Incidental Mutation 'R4678:Cyp3a57'
ID 349749
Institutional Source Beutler Lab
Gene Symbol Cyp3a57
Ensembl Gene ENSMUSG00000070419
Gene Name cytochrome P450, family 3, subfamily a, polypeptide 57
Synonyms EG622127
MMRRC Submission 041931-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4678 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 145282089-145327736 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 145307538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079268] [ENSMUST00000079268] [ENSMUST00000174696]
AlphaFold D3YYZ0
Predicted Effect probably null
Transcript: ENSMUST00000079268
SMART Domains Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419

DomainStartEndE-ValueType
Pfam:p450 38 493 6.5e-131 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000079268
SMART Domains Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419

DomainStartEndE-ValueType
Pfam:p450 38 493 6.5e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174696
SMART Domains Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419

DomainStartEndE-ValueType
Pfam:p450 38 147 1.8e-21 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik T C 16: 88,860,873 (GRCm39) probably benign Het
Abcc4 A G 14: 118,865,103 (GRCm39) S308P probably damaging Het
Agr3 G T 12: 35,997,832 (GRCm39) V115L probably damaging Het
Ahr A T 12: 35,557,463 (GRCm39) I319N probably damaging Het
Alpk1 A T 3: 127,473,507 (GRCm39) V832D probably damaging Het
Ano1 T C 7: 144,223,289 (GRCm39) T78A probably benign Het
Apob G A 12: 8,045,585 (GRCm39) G897D probably damaging Het
Arfgef1 A G 1: 10,212,891 (GRCm39) F1677L probably benign Het
Arhgap40 G T 2: 158,374,226 (GRCm39) G217W probably benign Het
Arhgef4 A G 1: 34,761,749 (GRCm39) E335G unknown Het
Calcoco2 T C 11: 95,994,374 (GRCm39) T60A probably damaging Het
Catsperg1 A T 7: 28,889,721 (GRCm39) S741T probably benign Het
Ccdc181 T G 1: 164,105,846 (GRCm39) I27S probably damaging Het
Ceacam9 A T 7: 16,459,334 (GRCm39) Y211F probably damaging Het
Cep41 T C 6: 30,671,318 (GRCm39) probably null Het
Cercam T A 2: 29,759,689 (GRCm39) L45Q probably damaging Het
Cnnm2 G A 19: 46,751,685 (GRCm39) V492M possibly damaging Het
Cntn3 A G 6: 102,180,981 (GRCm39) V738A probably damaging Het
Coq8a T C 1: 179,997,646 (GRCm39) E351G probably damaging Het
Dbn1 T C 13: 55,623,071 (GRCm39) I471V probably benign Het
Ddx21 G T 10: 62,429,782 (GRCm39) Q321K probably benign Het
Dhx8 T C 11: 101,630,634 (GRCm39) V347A probably damaging Het
Dkc1 A G X: 74,144,598 (GRCm39) I215V probably benign Homo
Dlg2 A G 7: 92,077,788 (GRCm39) I685V possibly damaging Het
Dusp11 A C 6: 85,930,363 (GRCm39) N140K probably damaging Het
Ece2 A G 16: 20,459,468 (GRCm39) K454R probably damaging Het
Eno4 T A 19: 58,935,181 (GRCm39) V131E probably damaging Het
Enpep A G 3: 129,097,362 (GRCm39) probably null Het
Etv1 T C 12: 38,885,219 (GRCm39) Y236H probably damaging Het
F2rl2 A G 13: 95,837,140 (GRCm39) T62A probably benign Het
Fbxl21 T C 13: 56,684,862 (GRCm39) V296A probably damaging Het
Fig4 T C 10: 41,148,994 (GRCm39) I153V probably benign Het
Fis1 T A 5: 136,991,951 (GRCm39) N41K possibly damaging Het
Fras1 T A 5: 96,848,427 (GRCm39) M1814K probably benign Het
Frem2 T A 3: 53,451,792 (GRCm39) I2266F probably benign Het
Gm10330 A T 12: 23,829,843 (GRCm39) *113R probably null Het
Gm12185 T A 11: 48,806,367 (GRCm39) I275F probably benign Het
Gsdme A T 6: 50,206,304 (GRCm39) C180S possibly damaging Het
Herc1 A G 9: 66,323,551 (GRCm39) E1355G probably benign Het
Hnrnpm A T 17: 33,869,185 (GRCm39) I453N possibly damaging Het
Hspb9 T C 11: 100,604,896 (GRCm39) L74P probably damaging Het
Ift46 C A 9: 44,695,260 (GRCm39) Y85* probably null Het
Insyn2b T G 11: 34,353,227 (GRCm39) L423R probably damaging Het
Ints3 T C 3: 90,315,817 (GRCm39) T316A possibly damaging Het
Isg20 C T 7: 78,564,076 (GRCm39) probably benign Het
Itga11 T A 9: 62,642,639 (GRCm39) N187K probably damaging Het
Klhl9 G A 4: 88,639,161 (GRCm39) T360I probably damaging Het
Krt39 T A 11: 99,411,826 (GRCm39) I87F probably benign Het
Krtap19-4 G A 16: 88,681,734 (GRCm39) S74F unknown Het
Lgi1 G A 19: 38,289,737 (GRCm39) V268I probably damaging Het
Lrrc46 G A 11: 96,925,719 (GRCm39) P248S probably benign Het
Lrrn4 C T 2: 132,721,488 (GRCm39) V110I probably benign Het
Mamstr C A 7: 45,294,116 (GRCm39) probably benign Het
Micu3 T A 8: 40,833,718 (GRCm39) F451I probably damaging Het
Mid1 C A X: 168,768,044 (GRCm39) D130E possibly damaging Het
Mkks T C 2: 136,722,201 (GRCm39) T319A probably benign Het
Mob3c A G 4: 115,690,968 (GRCm39) probably null Het
Muc6 T C 7: 141,230,554 (GRCm39) E1192G probably benign Het
Ndc80 A G 17: 71,827,753 (GRCm39) probably null Het
Nfx1 A G 4: 41,012,070 (GRCm39) K807E probably benign Het
Nrxn1 A T 17: 90,930,850 (GRCm39) L181Q probably damaging Het
Nsun7 A G 5: 66,418,407 (GRCm39) S46G probably benign Het
Nup98 A T 7: 101,834,038 (GRCm39) L308H probably damaging Het
Or4c115 C A 2: 88,927,860 (GRCm39) W137L probably benign Het
Or52j3 T C 7: 102,836,098 (GRCm39) F97L probably damaging Het
Or6f2 T C 7: 139,756,141 (GRCm39) V36A probably benign Het
Or8k32 T C 2: 86,369,077 (GRCm39) M61V possibly damaging Het
Palb2 T C 7: 121,726,589 (GRCm39) K427R probably damaging Het
Pcdha1 C A 18: 37,063,965 (GRCm39) Q210K probably benign Het
Pcdhb2 T C 18: 37,429,260 (GRCm39) L411P probably damaging Het
Pde4dip C A 3: 97,602,321 (GRCm39) D2252Y probably damaging Het
Plekhg4 T A 8: 106,107,003 (GRCm39) Y899* probably null Het
Plxnb2 G T 15: 89,045,131 (GRCm39) T1105K probably benign Het
Psmd2 T C 16: 20,478,719 (GRCm39) V606A probably damaging Het
Ptprq A T 10: 107,521,043 (GRCm39) F710I probably benign Het
Rad51ap2 A G 12: 11,506,552 (GRCm39) E158G probably damaging Het
Rasip1 T A 7: 45,277,247 (GRCm39) H18Q possibly damaging Het
Rassf8 A G 6: 145,760,808 (GRCm39) K45E probably damaging Het
Rrn3 T A 16: 13,613,940 (GRCm39) M284K probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Rtn2 C A 7: 19,027,820 (GRCm39) N403K probably damaging Het
Rusc1 A G 3: 88,997,027 (GRCm39) W462R probably damaging Het
Sdc3 T A 4: 130,545,907 (GRCm39) probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc12a2 T A 18: 58,039,032 (GRCm39) C537* probably null Het
Slc4a2 G A 5: 24,639,238 (GRCm39) probably null Het
Spsb4 T A 9: 96,877,744 (GRCm39) D193V probably damaging Het
Strn A C 17: 78,984,780 (GRCm39) F288V probably damaging Het
Stx18 G A 5: 38,293,712 (GRCm39) probably benign Het
Tfcp2l1 T A 1: 118,596,378 (GRCm39) M371K probably benign Het
Thnsl1 A G 2: 21,216,352 (GRCm39) probably null Het
Tlr11 C T 14: 50,598,439 (GRCm39) H142Y possibly damaging Het
Tor1aip2 T A 1: 155,940,780 (GRCm39) I362K probably damaging Het
Trmt13 T C 3: 116,383,404 (GRCm39) K125E probably damaging Het
Trpm8 T C 1: 88,264,851 (GRCm39) V320A probably benign Het
Ubr3 A T 2: 69,766,263 (GRCm39) H377L probably damaging Het
Usp8 A G 2: 126,567,349 (GRCm39) R123G probably null Het
Vim T A 2: 13,579,775 (GRCm39) L178Q probably damaging Het
Vmn1r231 A C 17: 21,110,489 (GRCm39) V142G possibly damaging Het
Vmn1r83 A G 7: 12,055,697 (GRCm39) M120T possibly damaging Het
Vwce G T 19: 10,642,012 (GRCm39) V913F possibly damaging Het
Zbtb18 C A 1: 177,275,285 (GRCm39) T215K probably benign Het
Zeb2 A T 2: 44,886,353 (GRCm39) D857E probably damaging Het
Zfp106 G A 2: 120,364,221 (GRCm39) H729Y probably damaging Het
Zfp977 C A 7: 42,229,437 (GRCm39) A363S probably benign Het
Other mutations in Cyp3a57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Cyp3a57 APN 5 145,307,834 (GRCm39) missense probably damaging 1.00
IGL00656:Cyp3a57 APN 5 145,309,359 (GRCm39) missense possibly damaging 0.55
IGL01368:Cyp3a57 APN 5 145,305,878 (GRCm39) missense probably damaging 0.99
IGL01602:Cyp3a57 APN 5 145,323,854 (GRCm39) missense probably damaging 1.00
IGL01605:Cyp3a57 APN 5 145,323,854 (GRCm39) missense probably damaging 1.00
IGL01924:Cyp3a57 APN 5 145,309,439 (GRCm39) missense probably benign
IGL02191:Cyp3a57 APN 5 145,302,495 (GRCm39) missense probably damaging 1.00
IGL02213:Cyp3a57 APN 5 145,318,090 (GRCm39) missense probably damaging 1.00
IGL02217:Cyp3a57 APN 5 145,305,953 (GRCm39) splice site probably null
R0141:Cyp3a57 UTSW 5 145,298,912 (GRCm39) missense probably benign 0.05
R0720:Cyp3a57 UTSW 5 145,327,213 (GRCm39) splice site probably benign
R0765:Cyp3a57 UTSW 5 145,327,220 (GRCm39) splice site probably benign
R0976:Cyp3a57 UTSW 5 145,327,278 (GRCm39) missense probably benign 0.01
R1494:Cyp3a57 UTSW 5 145,318,077 (GRCm39) missense probably damaging 0.97
R1624:Cyp3a57 UTSW 5 145,327,225 (GRCm39) critical splice acceptor site probably null
R1732:Cyp3a57 UTSW 5 145,302,455 (GRCm39) missense probably damaging 1.00
R1791:Cyp3a57 UTSW 5 145,307,820 (GRCm39) missense probably benign 0.06
R1839:Cyp3a57 UTSW 5 145,318,111 (GRCm39) missense probably damaging 1.00
R1858:Cyp3a57 UTSW 5 145,318,059 (GRCm39) missense probably damaging 1.00
R2095:Cyp3a57 UTSW 5 145,305,944 (GRCm39) nonsense probably null
R2305:Cyp3a57 UTSW 5 145,318,090 (GRCm39) missense probably damaging 1.00
R3954:Cyp3a57 UTSW 5 145,286,135 (GRCm39) critical splice acceptor site probably null
R4289:Cyp3a57 UTSW 5 145,286,207 (GRCm39) missense probably damaging 1.00
R4463:Cyp3a57 UTSW 5 145,318,084 (GRCm39) missense probably damaging 1.00
R4579:Cyp3a57 UTSW 5 145,311,074 (GRCm39) missense probably benign 0.00
R4598:Cyp3a57 UTSW 5 145,327,227 (GRCm39) missense probably benign 0.01
R4853:Cyp3a57 UTSW 5 145,302,489 (GRCm39) missense probably damaging 1.00
R4954:Cyp3a57 UTSW 5 145,307,765 (GRCm39) critical splice acceptor site probably null
R4977:Cyp3a57 UTSW 5 145,286,236 (GRCm39) splice site probably null
R5162:Cyp3a57 UTSW 5 145,305,893 (GRCm39) missense probably damaging 1.00
R5226:Cyp3a57 UTSW 5 145,302,507 (GRCm39) missense probably benign 0.04
R5470:Cyp3a57 UTSW 5 145,309,429 (GRCm39) missense probably benign 0.12
R5568:Cyp3a57 UTSW 5 145,307,456 (GRCm39) missense probably benign 0.01
R5652:Cyp3a57 UTSW 5 145,286,135 (GRCm39) critical splice acceptor site probably null
R5872:Cyp3a57 UTSW 5 145,307,867 (GRCm39) nonsense probably null
R6855:Cyp3a57 UTSW 5 145,309,376 (GRCm39) missense probably damaging 0.97
R6861:Cyp3a57 UTSW 5 145,307,773 (GRCm39) missense possibly damaging 0.85
R6893:Cyp3a57 UTSW 5 145,323,784 (GRCm39) nonsense probably null
R7081:Cyp3a57 UTSW 5 145,318,183 (GRCm39) missense probably damaging 1.00
R7305:Cyp3a57 UTSW 5 145,307,795 (GRCm39) missense probably benign 0.03
R8987:Cyp3a57 UTSW 5 145,311,040 (GRCm39) critical splice acceptor site probably null
R8987:Cyp3a57 UTSW 5 145,311,039 (GRCm39) critical splice acceptor site probably null
R9317:Cyp3a57 UTSW 5 145,309,421 (GRCm39) missense possibly damaging 0.78
R9368:Cyp3a57 UTSW 5 145,318,159 (GRCm39) missense probably benign 0.01
R9505:Cyp3a57 UTSW 5 145,286,139 (GRCm39) missense probably benign 0.40
Z1177:Cyp3a57 UTSW 5 145,302,443 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTACTTAAGAACAGTATGGGGA -3'
(R):5'- TCCAACCTATCAGGCAAGGAG -3'

Sequencing Primer
(F):5'- AGAAGTGTCCATGCCTATGC -3'
(R):5'- GCAAGGAGCCACAGAGTCAC -3'
Posted On 2015-10-08