Incidental Mutation 'IGL02191:Cyp3a57'
ID 283854
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 # IGL02191
Quality Score
Status
Chromosome 5
Chromosomal Location 145282089-145327736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145302495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 97 (E97G)
Ref Sequence ENSEMBL: ENSMUSP00000078251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079268] [ENSMUST00000174696]
AlphaFold D3YYZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000079268
AA Change: E97G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: E97G

DomainStartEndE-ValueType
Pfam:p450 38 493 6.5e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174696
AA Change: E97G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419
AA Change: E97G

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
Actn1 T C 12: 80,220,883 (GRCm39) I642V probably benign Het
Adam5 G A 8: 25,302,439 (GRCm39) R185* probably null Het
C2 T C 17: 35,085,539 (GRCm39) I122V probably damaging Het
Camsap1 A G 2: 25,819,892 (GRCm39) I1531T probably damaging Het
Celsr1 T C 15: 85,863,205 (GRCm39) T1276A possibly damaging Het
Cnot7 A T 8: 40,963,068 (GRCm39) N35K probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Cyp51 C A 5: 4,150,147 (GRCm39) R192I probably benign Het
Ddx59 T C 1: 136,344,896 (GRCm39) L189P probably damaging Het
Dnah6 A G 6: 72,994,780 (GRCm39) I4127T probably benign Het
Dock3 C T 9: 106,815,340 (GRCm39) V1217I probably benign Het
Ergic2 T C 6: 148,106,319 (GRCm39) D57G probably null Het
Flvcr2 A T 12: 85,832,966 (GRCm39) K329* probably null Het
Foxp1 T C 6: 98,922,561 (GRCm39) S327G probably damaging Het
Gen1 A C 12: 11,292,297 (GRCm39) H562Q probably benign Het
Gjc2 A G 11: 59,068,386 (GRCm39) V32A probably damaging Het
Grk4 C T 5: 34,912,533 (GRCm39) H574Y probably benign Het
Kif15 T A 9: 122,804,744 (GRCm39) C93S probably damaging Het
Lrtm1 A C 14: 28,743,906 (GRCm39) I125L probably benign Het
Mrgprb8 A G 7: 48,038,527 (GRCm39) Y66C probably damaging Het
Pfn1 G A 11: 70,545,209 (GRCm39) A33V probably damaging Het
Scnn1b A C 7: 121,516,736 (GRCm39) K492Q probably damaging Het
Slc22a29 G A 19: 8,196,045 (GRCm39) probably benign Het
Spocd1 A G 4: 129,847,380 (GRCm39) D523G probably damaging Het
Tmem144 A T 3: 79,734,159 (GRCm39) D181E possibly damaging Het
Tmem220 G A 11: 66,921,933 (GRCm39) C101Y probably damaging Het
Tmpo A G 10: 90,997,741 (GRCm39) V682A probably benign Het
Wdr93 A G 7: 79,398,968 (GRCm39) K34R probably damaging Het
Zdhhc16 C A 19: 41,926,130 (GRCm39) C8* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* 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
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
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 2015-04-16