Incidental Mutation 'IGL01368:Cyp3a57'
ID 76011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp3a57
Ensembl Gene ENSMUSG00000070419
Gene Name cytochrome P450, family 3, subfamily a, polypeptide 57
Synonyms EG622127
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL01368
Quality Score
Status
Chromosome 5
Chromosomal Location 145282089-145327736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145305878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 121 (S121P)
Ref Sequence ENSEMBL: ENSMUSP00000133600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079268] [ENSMUST00000174696]
AlphaFold D3YYZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000079268
AA Change: S121P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: S121P

DomainStartEndE-ValueType
Pfam:p450 38 493 6.5e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174696
AA Change: S121P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419
AA Change: S121P

DomainStartEndE-ValueType
Pfam:p450 38 147 1.8e-21 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,288,770 (GRCm39) D93E probably damaging Het
Adam22 T C 5: 8,177,411 (GRCm39) Y566C probably damaging Het
Atp8b3 G A 10: 80,370,063 (GRCm39) probably benign Het
Babam1 T A 8: 71,851,050 (GRCm39) D104E probably damaging Het
Bcl2a1a T A 9: 88,839,500 (GRCm39) W133R probably damaging Het
Ckm C T 7: 19,150,712 (GRCm39) Q184* probably null Het
Clk4 T A 11: 51,171,999 (GRCm39) Y246* probably null Het
Eif1ad15 C T 12: 88,287,858 (GRCm39) D132N unknown Het
Gm8011 T C 14: 42,287,831 (GRCm39) probably benign Het
Gpr153 T C 4: 152,367,451 (GRCm39) F434S probably benign Het
Gpr158 G T 2: 21,831,909 (GRCm39) W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,700,010 (GRCm39) E34G probably damaging Het
Igkv16-104 G T 6: 68,402,594 (GRCm39) R2S possibly damaging Het
Map3k3 T C 11: 106,041,215 (GRCm39) F395L probably benign Het
Myof T A 19: 37,924,905 (GRCm39) T1161S probably damaging Het
Nlrp9a T C 7: 26,257,299 (GRCm39) S217P probably damaging Het
Nol9 T A 4: 152,142,848 (GRCm39) N687K probably benign Het
Or10ad1 T C 15: 98,105,381 (GRCm39) I295V probably damaging Het
Or11h23 T C 14: 50,948,450 (GRCm39) V221A possibly damaging Het
Or2ag15 T C 7: 106,340,829 (GRCm39) E104G probably benign Het
Or8g33 A T 9: 39,337,476 (GRCm39) V297D probably damaging Het
Prss1l A G 6: 41,373,620 (GRCm39) D161G possibly damaging Het
Rrh T C 3: 129,602,618 (GRCm39) D229G probably benign Het
Sclt1 T C 3: 41,665,610 (GRCm39) T153A probably damaging Het
Slc41a1 G A 1: 131,766,862 (GRCm39) V127I probably damaging Het
Smarca2 C T 19: 26,751,694 (GRCm39) S214L possibly damaging Het
Tmem63a T C 1: 180,797,797 (GRCm39) V616A possibly damaging Het
Ubr1 A G 2: 120,771,612 (GRCm39) probably benign Het
Vmn1r228 A G 17: 20,996,774 (GRCm39) L248P probably benign Het
Zdhhc16 T A 19: 41,929,945 (GRCm39) probably null 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
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
R4678:Cyp3a57 UTSW 5 145,307,538 (GRCm39) splice site probably null
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
Posted On 2013-10-07