Incidental Mutation 'IGL02292:Cyp4a31'
ID290064
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 #IGL02292
Quality Score
Status
Chromosome4
Chromosomal Location115563649-115579015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 115566501 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 133 (N133I)
Ref Sequence ENSEMBL: ENSMUSP00000117129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030480] [ENSMUST00000030486] [ENSMUST00000126645] [ENSMUST00000141033]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030480
AA Change: N119I

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712
AA Change: N119I

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: N134I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712
AA Change: N134I

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: N133I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117129
Gene: ENSMUSG00000028712
AA Change: N133I

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: N134I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115628
Gene: ENSMUSG00000028712
AA Change: N134I

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,564,557 M51V probably benign Het
Abcb5 C T 12: 118,918,197 G599D probably damaging Het
Aim2 T A 1: 173,462,274 I261N probably benign Het
Alpk3 A G 7: 81,077,905 H261R possibly damaging Het
Ankrd12 G A 17: 66,042,587 H84Y probably damaging Het
Ankrd17 T C 5: 90,252,859 probably benign Het
Apc2 C T 10: 80,302,424 P139S possibly damaging Het
Cct7 A G 6: 85,461,109 Y111C probably benign Het
Cd226 G A 18: 89,207,092 V38I possibly damaging Het
Cdh3 A G 8: 106,545,201 Y582C probably damaging Het
Csmd1 T C 8: 16,211,870 D871G probably damaging Het
Fem1b T C 9: 62,796,695 I428V probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flrt3 G A 2: 140,660,125 P528S probably damaging Het
Gm9476 A C 10: 100,307,184 noncoding transcript Het
Itgae T C 11: 73,118,535 I515T probably damaging Het
Itih1 T A 14: 30,933,355 probably null Het
Map3k4 A G 17: 12,235,158 V1419A possibly damaging Het
Mfsd6l A T 11: 68,557,750 I476L probably benign Het
Mrpl2 T C 17: 46,648,231 probably benign Het
Mrpl37 A G 4: 107,060,532 L314P probably damaging Het
Msto1 C A 3: 88,911,824 R205S probably benign Het
Myh9 A T 15: 77,807,996 I121N probably damaging Het
Olfr1201 G A 2: 88,795,287 V302I probably benign Het
Omt2a G A 9: 78,313,339 R20C possibly damaging Het
Pdpr G A 8: 111,125,680 V560I probably damaging Het
Rimkla A T 4: 119,468,352 C287S probably damaging Het
Shcbp1l T A 1: 153,436,145 probably benign Het
Tm7sf2 T A 19: 6,063,568 K111I probably damaging Het
Tnfrsf21 A G 17: 43,039,911 E322G probably benign Het
Ttn A G 2: 76,881,199 probably benign Het
Zbtb20 T A 16: 43,610,648 Y507* probably null 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
IGL02343:Cyp4a31 APN 4 115563829 missense probably damaging 1.00
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