Incidental Mutation 'R0765:Cyp3a57'
ID72603
Institutional Source Beutler Lab
Gene Symbol Cyp3a57
Ensembl Gene ENSMUSG00000070419
Gene Namecytochrome P450, family 3, subfamily a, polypeptide 57
SynonymsEG622127
MMRRC Submission 038945-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #R0765 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location145345279-145390926 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 145390410 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079268] [ENSMUST00000174696]
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.7%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T A 5: 107,506,934 D354E probably benign Het
Abhd16a T A 17: 35,101,851 V425D probably benign Het
Ano9 T G 7: 141,107,184 I381L probably damaging Het
Apob C T 12: 8,016,518 L4496F probably benign Het
Arhgef38 C T 3: 133,116,583 E724K probably damaging Het
Atp8b4 T A 2: 126,372,150 probably null Het
Baiap2l1 G T 5: 144,277,703 P394T probably damaging Het
Cnbp C A 6: 87,845,173 C122F probably damaging Het
Col3a1 A G 1: 45,336,651 probably benign Het
Colq T G 14: 31,526,037 D408A possibly damaging Het
Cuzd1 A T 7: 131,316,095 S259T probably benign Het
Dbn1 C A 13: 55,482,294 V112F probably damaging Het
Dcc T A 18: 71,362,990 D1028V probably damaging Het
Dnajb11 T C 16: 22,862,568 V32A probably damaging Het
Dsg4 G A 18: 20,454,646 probably benign Het
Dyrk1b C T 7: 28,185,711 probably benign Het
Ebf1 T A 11: 44,869,160 M208K probably damaging Het
Efhc1 A G 1: 20,978,652 I430V probably benign Het
Elovl2 T C 13: 41,187,466 Y181C probably benign Het
Fras1 A G 5: 96,552,796 Q225R probably benign Het
Frmd3 G A 4: 74,161,767 R332Q probably damaging Het
Glg1 A G 8: 111,159,797 probably null Het
Hmcn1 G A 1: 150,808,787 T344M probably damaging Het
Il1rap T G 16: 26,710,632 probably null Het
Klra1 A T 6: 130,379,092 probably benign Het
Larp7 C A 3: 127,546,165 K289N probably damaging Het
Lgr6 C A 1: 134,993,886 G240V probably benign Het
Lrp10 G T 14: 54,468,090 D246Y probably damaging Het
Map3k20 G A 2: 72,371,925 V167I probably damaging Het
Med23 T C 10: 24,900,710 S347P probably damaging Het
Mybph T C 1: 134,197,496 V254A possibly damaging Het
Ndufv2 A G 17: 66,101,078 probably benign Het
Nuf2 A T 1: 169,522,936 probably benign Het
Nup210l T C 3: 90,119,877 Y189H probably damaging Het
Olfr1025-ps1 T C 2: 85,918,705 L260P probably damaging Het
Olfr1263 G A 2: 90,015,670 V247I probably benign Het
Olfr574 C T 7: 102,948,732 T79I probably damaging Het
Pdgfra C A 5: 75,187,987 probably benign Het
Phlpp1 T C 1: 106,392,283 L1336P probably damaging Het
Prpf38b T C 3: 108,911,418 T9A possibly damaging Het
Rnf213 G A 11: 119,423,095 probably null Het
Saal1 A T 7: 46,699,647 V281E possibly damaging Het
Slc17a3 C T 13: 23,846,896 Q186* probably null Het
Slc6a2 A G 8: 92,989,031 T266A probably damaging Het
Snai2 T C 16: 14,706,804 V58A possibly damaging Het
Srfbp1 T C 18: 52,490,435 probably benign Het
Sucla2 C T 14: 73,560,634 probably benign Het
Tesk1 C T 4: 43,446,706 P365S possibly damaging Het
Tmem127 C A 2: 127,257,149 T201K probably damaging Het
Trim17 T G 11: 58,971,369 V409G possibly damaging Het
Trim43c C T 9: 88,841,916 T165I probably benign Het
Ush2a C A 1: 188,948,574 F4916L possibly damaging Het
Vmn1r89 A G 7: 13,219,540 M68V probably benign Het
Vmn2r105 C T 17: 20,227,711 E284K probably benign Het
Vmn2r105 T C 17: 20,227,857 D235G probably damaging Het
Vmn2r-ps134 C T 17: 23,446,041 noncoding transcript Het
Zdbf2 G A 1: 63,305,723 S1087N possibly damaging Het
Zfp534 G A 4: 147,674,236 P659S probably damaging Het
Other mutations in Cyp3a57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Cyp3a57 APN 5 145371024 missense probably damaging 1.00
IGL00656:Cyp3a57 APN 5 145372549 missense possibly damaging 0.55
IGL01368:Cyp3a57 APN 5 145369068 missense probably damaging 0.99
IGL01602:Cyp3a57 APN 5 145387044 missense probably damaging 1.00
IGL01605:Cyp3a57 APN 5 145387044 missense probably damaging 1.00
IGL01924:Cyp3a57 APN 5 145372629 missense probably benign
IGL02191:Cyp3a57 APN 5 145365685 missense probably damaging 1.00
IGL02213:Cyp3a57 APN 5 145381280 missense probably damaging 1.00
IGL02217:Cyp3a57 APN 5 145369143 splice site probably null
R0141:Cyp3a57 UTSW 5 145362102 missense probably benign 0.05
R0720:Cyp3a57 UTSW 5 145390403 splice site probably benign
R0976:Cyp3a57 UTSW 5 145390468 missense probably benign 0.01
R1494:Cyp3a57 UTSW 5 145381267 missense probably damaging 0.97
R1624:Cyp3a57 UTSW 5 145390415 critical splice acceptor site probably null
R1732:Cyp3a57 UTSW 5 145365645 missense probably damaging 1.00
R1791:Cyp3a57 UTSW 5 145371010 missense probably benign 0.06
R1839:Cyp3a57 UTSW 5 145381301 missense probably damaging 1.00
R1858:Cyp3a57 UTSW 5 145381249 missense probably damaging 1.00
R2095:Cyp3a57 UTSW 5 145369134 nonsense probably null
R2305:Cyp3a57 UTSW 5 145381280 missense probably damaging 1.00
R3954:Cyp3a57 UTSW 5 145349325 critical splice acceptor site probably null
R4289:Cyp3a57 UTSW 5 145349397 missense probably damaging 1.00
R4463:Cyp3a57 UTSW 5 145381274 missense probably damaging 1.00
R4579:Cyp3a57 UTSW 5 145374264 missense probably benign 0.00
R4598:Cyp3a57 UTSW 5 145390417 missense probably benign 0.01
R4678:Cyp3a57 UTSW 5 145370728 splice site probably null
R4853:Cyp3a57 UTSW 5 145365679 missense probably damaging 1.00
R4954:Cyp3a57 UTSW 5 145370955 critical splice acceptor site probably null
R4977:Cyp3a57 UTSW 5 145349426 splice site probably null
R5162:Cyp3a57 UTSW 5 145369083 missense probably damaging 1.00
R5226:Cyp3a57 UTSW 5 145365697 missense probably benign 0.04
R5470:Cyp3a57 UTSW 5 145372619 missense probably benign 0.12
R5568:Cyp3a57 UTSW 5 145370646 missense probably benign 0.01
R5652:Cyp3a57 UTSW 5 145349325 critical splice acceptor site probably null
R5872:Cyp3a57 UTSW 5 145371057 nonsense probably null
R6855:Cyp3a57 UTSW 5 145372566 missense probably damaging 0.97
R6861:Cyp3a57 UTSW 5 145370963 missense possibly damaging 0.85
R6893:Cyp3a57 UTSW 5 145386974 nonsense probably null
R7081:Cyp3a57 UTSW 5 145381373 missense probably damaging 1.00
R7305:Cyp3a57 UTSW 5 145370985 missense probably benign 0.03
Z1177:Cyp3a57 UTSW 5 145365633 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGCTGCCCAGACACTTTGATAAC -3'
(R):5'- TGGTGTTCTGTGACACAAGCCC -3'

Sequencing Primer
(F):5'- CCAGACACTTTGATAACTGAGTTCC -3'
(R):5'- GCCCCTTGAAGAATATAACATGG -3'
Posted On2013-09-30