Mammalian Genetics & Genomics
Life Sciences Division
Oak Ridge National Laboratory

Mutations Identified in the Cryopreserved Mutant Mouse Bank (CMMB)

Types of ENU-induced gene mutations identified by TGCE screening of DNA and cDNA templates from 4,000 C57BL/6J mice in the CMMB, and recovery of mutant lines from the cryopreserved sperm by ICSI.
Gene symbol Amplicon size (bp) Template
(D-DNA C-cDNA) 		Number of
individuals
screeneda 		Mbp screened Mutations identified
(mouse #)b 		GenBank accession number Base mutationc Amino acid change Type of mutation Rederived by ICSI
Mc1r 446 D 1667* 0.743 1 (1110) NM_008559 T781C Phe256Ser Nonconservative Yes
Mc1r 527 D 1671* 0.880 1 (997) AF176016 A115G Promoter Promoterd Yes
Zfp111 327 D 1250* 0.409 1 (803) NM_019940 G2182A 3’ UTR 3’ UTRe Yes
Scnm1 484 D 3400 1.645 1 (1128)
1 (3789)		 NM_027013
AC140190		 T428C
T19199C		 Ile112Thr
Intronic		 Nonconservative
Intron 5f		 Yes
Scnm1 372 D 3800 1.414 1 (2364) NM_027013 A594G Ser167Ser Silent  
Scnm1 460 D 3086* 1.420 1 (3109) NM_027013 T776C Leu228Ser Nonconservative  
Usp29 300 D 3884 1.165 1 (3909) NM_021323 G1850A Glu124Lys Nonconservative Yes
Usp29 300 D 3271* 0.981 1 (36)
1 (1207)		 NM_021323
NM_021323		 T2632C
T2551C		 Cys384Cys
Ser357Ser		 Silent
Silent		  
Usp29 336 D 3544 1.191 1 (1954) NM_021323 T2933A Cys485Ser Conservative  
Usp29 298 D 3621 1.079 1 (573) NM_021323 A3516G Lys679Arg Conservative  
Zim1 298 D 2037* 0.607 1 (195) NM_011769 A808G Lys176Arg Conservative  
Zim1 298 D 3720 1.109 1 (2277) NM_011769 A1017G Lys246Glu Nonconservative  
Zim1 302 D 3726 1.125 1 (1027)
1 (3119*)		 NM_011769
NM_011769		 T1660A
A1610G		 Val460Glu
Gly443Gly		 Nonconservative
Silent		  
Myd88 497 D 3739 1.858 1 (364) NM_010851 G604A Val175Met Conservative  
Myd88 245 D 3836 0.940 1 (1569) NM_010851 T899A Ile273Lys Nonconservative Yes
Ap2s1 186 D 3501 0.651 1 (1986)
1 (3119*)		 NM_198613
NM_198613		 G321T
C296T		 Val80Leu
Leu71Leu		 Conservative
Silent		  
Col5a3 559 D 3543 1.981 1 (732) AC170598 A12961G Intronic Intron 40g  
Capsl 372 D 3694 1.374 1 (661) NT_039618 T418425A Intronic Intron 2h  
Capsl 344 D 2422* 0.833 1 (1813) NM_029341 G665A Leu125Leu Silent  
Antxr1 419 D 3726 1.560 1 (832) AC153853 A188590G Intronic Intron 1i  
Antxr1 335 D 3739 1.253 1 (1176) AC153853 T94846A Intronic Intron 4j  
Dnahc3 564 D 3521 1.986 1 (564)
1 (3599)		 AK053178
AK053178		 T1418A
T1451A		 Val405Asp
Met416Lys		 Nonconservative
Nonconservative		 Yes
Htr1a 593 D 3406 2.020 1 (1699) NM_008308 A1428G Gly312Gly Silent  
Gpr4 503 D 3673 1.848 1 (186)
1 (1985)		 NM_175668
NM_175668		 G1047A
A1039G		 Leu61Leu
Met59Val		 Silent
Conservative		  
Ticam2 378 D 3706 1.401 1 (355) NM_173394 A501T Asp9Val Nonconservative  
Ffar2 427 D 3626 1.548 1 (2146) NM_146187 T818G Cys95Gly Conservative  
Mtap2 386 D 2734* 1.055 1 (962) NM_008632 T1317C Pro290Pro Silent  
Tmem67 360 D 3659 1.317 1 (3415) NM_177861 A22G Met4Val Conservative  
2810432L12Rik 381 D 3721 1.418 1 (2648) NM_025944 A1019G Ile255Val Conservative  
Ift140 323 D 3706 1.197 1 (1516)
1 (3119*)
1 (3119*)
1 (3119*)		 NM_134126
NM_134126
AC130711
AC130711		 C551T
G486A
G7801T
T7804A		 Thr113Ile
Gln91Gln
Intronic
Intronic		 Nonconservative
Silent
Intron 3k
Intron 3l		  
Ift140 576 D 3322 1.913 1 (2614) AC130711 C80032A Intronic Intron 27m  
Ift140 498 D 3062* 1.525 1 (3119*)
1 (3119*)
1 (3119*)
1 (3119*)
1 (3119*)
1 (3119*)		 NM_134126
AC130711
AC130711
AC130711
AC130711
AC130711		 G3504A
G77647A
C77777T
A77778G
C77799T
C77857T		 Lys1097Lys
Gly1051Ser
Intronic
Intronic
Intronic
Intronic		 Silent
Conservative
Intron 24n
Intron 24o
Intron 24p
Intron 24q		  
Ap2a1 510 C 1113* 0.568 1 (131) NM_007458 A1446G Glu414Gly Nonconservative Yes
Ap2a1 543 C 1137* 0.617 1 (663) NM_007458 T796A Asn197Lys Nonconservative Yes
Pak4 503 C 441* 0.222 1 (61) NM_027470 C1094T Pro283Ser Nonconservative Yes
Pak4 449 C 1170* 0.525 1 (1141) NM_027470 G1831T Met528Ile Conservative  
Terf2 567 C 1138* 0.645 1 (1186) NM_009353 T456A Ser131Thr Conservative  
Eml2 466 C 1100* 0.513 1 (931)
1 (1066)		 BC055476
BC055476		 A752G
A545G		 Ser240Gly
Asn171Asp		 Conservative
Nonconservative		  
TOTAL         53          

aAsterisk indicates that only a portion of the CMMB was screened for the amplicon.
bNumber in parentheses indicates the CMMB animal number in which the mutation was identified. Asterisk signifies the unique nature of animal number 3119, in which mutations were identified in many different amplicons, including multiple mutations in two amplicons. The reason for the high mutation frequency in this mouse is unclear, but we speculate that it may have resulted from an ENU-induced mutation in a DNA repair gene.
cBases are numbered according to corresponding GenBank accession number and refer to the sense strand.
dPromoter, -681 bp upstream of start codon.
e3’ UTR, +7 bp downstream of stop codon.
fIntron 5, +62 bp downstream of end of exon 5.
gIntron 40, +6 bp downstream of end of exon 40.
hIntron 2, -7 bp upstream of start of exon 3.
iIntron 1, -33 bp upstream of start of exon 2.
jIntron 4, +75 bp downstream of end of exon 4.
kIntron 3, +5 bp downstream of end of exon 3.
lIntron 3, +8 bp downstream of end of exon 3.
mIntron 27, -30 bp upstream of start of exon 28.
nIntron 24, +8 bp downstream of end of exon 24.
oIntron 24, +9 bp downstream of end of exon 24.
pIntron 24, +30 bp downstream of end of exon 24.
qIntron 24, +88 bp downstream of end of exon 24.

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