Incidental Mutation 'IGL02343:Cyp4a31'
ID289175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4a31
Ensembl Gene ENSMUSG00000028712
Gene Namecytochrome P450, family 4, subfamily a, polypeptide 31
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL02343
Quality Score
Status
Chromosome4
Chromosomal Location115563649-115579015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115563829 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 38 (Y38C)
Ref Sequence ENSEMBL: ENSMUSP00000115628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030480] [ENSMUST00000030486] [ENSMUST00000126645] [ENSMUST00000141033]
Predicted Effect probably damaging
Transcript: ENSMUST00000030480
AA Change: Y38C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712
AA Change: Y38C

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 51 415 3.6e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000030486
AA Change: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712
AA Change: Y38C

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 51 504 2.6e-134 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126645
AA Change: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117129
Gene: ENSMUSG00000028712
AA Change: Y38C

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 51 340 4.3e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141033
AA Change: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115628
Gene: ENSMUSG00000028712
AA Change: Y38C

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 51 155 2.9e-17 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik C A 5: 90,579,614 H364N probably damaging Het
Acbd5 T A 2: 23,087,495 N168K possibly damaging Het
Aig1 T C 10: 13,868,674 M29V probably damaging Het
Apba2 A G 7: 64,695,146 E28G probably damaging Het
Bglap3 T C 3: 88,369,116 N45S possibly damaging Het
Cables2 A G 2: 180,260,279 probably null Het
Cd109 A G 9: 78,688,955 probably benign Het
Cdk1 T C 10: 69,340,501 N259D probably benign Het
Ces1h A G 8: 93,352,026 *563R probably null Het
Cfap46 C T 7: 139,682,509 A115T probably damaging Het
Cry2 A T 2: 92,426,921 V101E possibly damaging Het
Dip2a T C 10: 76,319,478 Y130C probably benign Het
Eps8l1 A G 7: 4,472,124 T366A probably benign Het
Esr2 C T 12: 76,145,345 R303H probably benign Het
Fbxo41 T G 6: 85,478,171 L617F possibly damaging Het
Fbxw15 A T 9: 109,552,655 probably benign Het
Lrriq1 T A 10: 103,234,163 probably benign Het
Me1 A T 9: 86,654,641 probably null Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Muc19 T G 15: 91,894,234 noncoding transcript Het
Myo15b A G 11: 115,873,400 probably benign Het
Nav1 A T 1: 135,454,752 L1264* probably null Het
Nhlrc4 T C 17: 25,943,361 *137W probably null Het
Nrxn3 A G 12: 88,795,353 T57A probably damaging Het
Olfr1512 T A 14: 52,372,477 D192V probably damaging Het
Orc2 A T 1: 58,469,666 probably null Het
Rpap2 G A 5: 107,618,181 probably null Het
S100a9 T C 3: 90,695,224 H21R probably damaging Het
Spz1 T A 13: 92,575,546 M141L probably benign Het
Stk40 A G 4: 126,136,902 Y305C probably damaging Het
Stra6l A G 4: 45,869,588 Q218R probably damaging Het
T C A 17: 8,439,900 probably benign Het
Tep1 T C 14: 50,829,247 D2298G probably damaging Het
Trim40 A T 17: 36,889,138 L16Q probably benign Het
Tubb4a T C 17: 57,081,538 I163V probably benign Het
Vwc2 T A 11: 11,116,532 C207S probably damaging Het
Zfp407 A G 18: 84,209,724 I1920T possibly damaging Het
Zfp429 T C 13: 67,390,725 E200G probably damaging Het
Zfp451 C T 1: 33,776,493 C792Y probably damaging Het
Other mutations in Cyp4a31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Cyp4a31 APN 4 115574974 unclassified probably benign
IGL01682:Cyp4a31 APN 4 115578031 missense probably damaging 0.97
IGL02112:Cyp4a31 APN 4 115570983 missense probably damaging 1.00
IGL02292:Cyp4a31 APN 4 115566501 missense probably damaging 0.98
IGL02508:Cyp4a31 APN 4 115571064 missense probably damaging 1.00
IGL03094:Cyp4a31 APN 4 115578108 utr 3 prime probably benign
IGL03493:Cyp4a31 APN 4 115570755 splice site probably null
R0400:Cyp4a31 UTSW 4 115563718 start codon destroyed probably null 1.00
R1263:Cyp4a31 UTSW 4 115574711 missense probably benign 0.01
R1508:Cyp4a31 UTSW 4 115565053 missense possibly damaging 0.53
R1523:Cyp4a31 UTSW 4 115569754 missense probably benign 0.23
R1822:Cyp4a31 UTSW 4 115566613 splice site probably null
R1832:Cyp4a31 UTSW 4 115569731 missense probably benign
R1872:Cyp4a31 UTSW 4 115574736 missense probably damaging 0.99
R2351:Cyp4a31 UTSW 4 115571313 missense possibly damaging 0.95
R2426:Cyp4a31 UTSW 4 115571016 missense probably damaging 0.98
R2993:Cyp4a31 UTSW 4 115569820 missense probably benign 0.03
R3743:Cyp4a31 UTSW 4 115566519 missense possibly damaging 0.95
R3812:Cyp4a31 UTSW 4 115566509 missense probably benign
R3963:Cyp4a31 UTSW 4 115574772 unclassified probably benign
R4211:Cyp4a31 UTSW 4 115565013 missense probably benign 0.01
R4814:Cyp4a31 UTSW 4 115570269 missense probably damaging 1.00
R6245:Cyp4a31 UTSW 4 115571348 missense possibly damaging 0.91
R6255:Cyp4a31 UTSW 4 115574920 missense possibly damaging 0.82
R6330:Cyp4a31 UTSW 4 115563877 missense probably damaging 0.99
R6433:Cyp4a31 UTSW 4 115570269 missense probably damaging 1.00
R6602:Cyp4a31 UTSW 4 115569707 critical splice acceptor site probably null
R6844:Cyp4a31 UTSW 4 115563792 missense probably null 0.00
R7154:Cyp4a31 UTSW 4 115574766 critical splice donor site probably null
R7300:Cyp4a31 UTSW 4 115570271 missense probably benign 0.03
R8188:Cyp4a31 UTSW 4 115569746 missense probably benign 0.29
X0020:Cyp4a31 UTSW 4 115565109 missense probably benign 0.06
X0021:Cyp4a31 UTSW 4 115577961 missense probably damaging 1.00
Posted On2015-04-16