Incidental Mutation 'IGL01959:Cyp2a4'
ID182310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2a4
Ensembl Gene ENSMUSG00000074254
Gene Namecytochrome P450, family 2, subfamily a, polypeptide 4
SynonymsD7Ucla4, Cyp15a1, testosterone 15alpha-hydroxylase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL01959
Quality Score
Status
Chromosome7
Chromosomal Location26307169-26315088 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 26307708 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 80 (V80E)
Ref Sequence ENSEMBL: ENSMUSP00000096254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098657]
Predicted Effect probably damaging
Transcript: ENSMUST00000098657
AA Change: V80E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: V80E

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:p450 34 491 8.9e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206226
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T C 11: 51,091,818 noncoding transcript Het
Aip A G 19: 4,121,397 I13T probably damaging Het
Cacna2d1 C T 5: 16,212,897 P140S probably benign Het
Cald1 A G 6: 34,753,468 D40G probably damaging Het
Cep250 T A 2: 155,983,359 V1052E possibly damaging Het
Chd1 A G 17: 15,742,173 N731D probably damaging Het
Chml C T 1: 175,687,600 V252I probably benign Het
Cog8 T C 8: 107,056,378 Y93C probably damaging Het
Creld1 G A 6: 113,492,833 A399T probably damaging Het
Cyp2c37 T A 19: 39,995,833 L255* probably null Het
Cyp2d12 C A 15: 82,555,344 probably benign Het
Dimt1 A G 13: 106,953,455 I229V probably benign Het
Dsc1 G A 18: 20,097,225 T341I probably damaging Het
Ercc3 T A 18: 32,257,358 F567I probably damaging Het
Espl1 C A 15: 102,305,662 probably benign Het
Fcrls T C 3: 87,259,632 D18G probably damaging Het
Fnip1 T A 11: 54,490,912 S296R possibly damaging Het
Fzd5 C A 1: 64,735,946 A219S possibly damaging Het
Gbp7 A G 3: 142,541,347 probably benign Het
Gm3298 T C 14: 5,018,731 L162S probably damaging Het
Hspa1l A G 17: 34,977,135 E50G probably damaging Het
Ipo9 T C 1: 135,420,355 probably null Het
Kazn A G 4: 142,150,884 L185P probably damaging Het
Kcnh8 T C 17: 52,834,607 S293P probably damaging Het
Lrp1b T C 2: 41,312,527 T1191A probably damaging Het
Mnat1 A G 12: 73,181,931 probably benign Het
Msx2 C T 13: 53,468,602 probably benign Het
Ndufs2 T G 1: 171,237,229 I317L probably benign Het
Nms T C 1: 38,941,925 probably benign Het
Oosp3 T A 19: 11,700,922 F87L probably benign Het
Pask A G 1: 93,334,607 V177A probably benign Het
Poldip2 G T 11: 78,512,307 probably benign Het
Prr14l A T 5: 32,830,205 S649T possibly damaging Het
Slc6a18 T A 13: 73,677,865 N22I probably damaging Het
Smco2 T A 6: 146,861,710 S228T probably benign Het
Speer4a G A 5: 26,035,904 Q197* probably null Het
Speg A G 1: 75,391,090 K641R probably damaging Het
Strip2 G A 6: 29,928,554 V286M probably damaging Het
Tnfrsf22 C T 7: 143,643,275 probably null Het
Tnpo3 A G 6: 29,589,020 probably benign Het
Top2b T A 14: 16,422,695 N1377K probably benign Het
Trmt1 T A 8: 84,691,376 probably null Het
Trpm1 A G 7: 64,208,975 M266V possibly damaging Het
Vmn1r199 A G 13: 22,383,120 T195A probably benign Het
Vmn2r10 A G 5: 108,997,705 V512A probably benign Het
Zfp777 A G 6: 48,044,341 F116L probably benign Het
Zp3r T A 1: 130,591,451 K253* probably null Het
Other mutations in Cyp2a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Cyp2a4 APN 7 26308544 missense probably damaging 1.00
IGL01609:Cyp2a4 APN 7 26308663 critical splice donor site probably null
IGL02282:Cyp2a4 APN 7 26309047 missense probably benign 0.01
IGL03053:Cyp2a4 APN 7 26313550 splice site probably benign
IGL03168:Cyp2a4 APN 7 26313550 splice site probably benign
R0393:Cyp2a4 UTSW 7 26312868 missense possibly damaging 0.67
R0453:Cyp2a4 UTSW 7 26312833 missense probably benign 0.22
R0825:Cyp2a4 UTSW 7 26312916 missense probably benign 0.07
R0948:Cyp2a4 UTSW 7 26310788 missense probably damaging 1.00
R1215:Cyp2a4 UTSW 7 26314801 missense possibly damaging 0.75
R1222:Cyp2a4 UTSW 7 26308588 missense possibly damaging 0.70
R1374:Cyp2a4 UTSW 7 26312923 missense probably damaging 0.99
R1473:Cyp2a4 UTSW 7 26314763 missense probably benign
R1580:Cyp2a4 UTSW 7 26307651 missense possibly damaging 0.91
R1768:Cyp2a4 UTSW 7 26312772 missense possibly damaging 0.94
R1832:Cyp2a4 UTSW 7 26312210 missense probably damaging 0.99
R1911:Cyp2a4 UTSW 7 26308974 missense possibly damaging 0.85
R2080:Cyp2a4 UTSW 7 26308537 missense possibly damaging 0.96
R2086:Cyp2a4 UTSW 7 26312308 missense probably damaging 1.00
R2259:Cyp2a4 UTSW 7 26309035 missense probably damaging 0.99
R2877:Cyp2a4 UTSW 7 26312187 missense possibly damaging 0.95
R2878:Cyp2a4 UTSW 7 26312187 missense possibly damaging 0.95
R3732:Cyp2a4 UTSW 7 26312827 missense probably damaging 1.00
R3732:Cyp2a4 UTSW 7 26312827 missense probably damaging 1.00
R3733:Cyp2a4 UTSW 7 26312827 missense probably damaging 1.00
R3734:Cyp2a4 UTSW 7 26312827 missense probably damaging 1.00
R3741:Cyp2a4 UTSW 7 26308544 missense probably damaging 1.00
R4079:Cyp2a4 UTSW 7 26307366 missense probably benign 0.22
R4297:Cyp2a4 UTSW 7 26307368 missense probably damaging 0.96
R4785:Cyp2a4 UTSW 7 26312875 missense probably damaging 1.00
R4998:Cyp2a4 UTSW 7 26307361 missense probably damaging 1.00
R5297:Cyp2a4 UTSW 7 26312204 missense probably benign 0.07
R5893:Cyp2a4 UTSW 7 26308928 missense probably damaging 1.00
R5942:Cyp2a4 UTSW 7 26310704 critical splice acceptor site probably null
R6262:Cyp2a4 UTSW 7 26312230 missense probably damaging 0.99
R6612:Cyp2a4 UTSW 7 26308647 missense probably benign 0.00
R6722:Cyp2a4 UTSW 7 26313558 missense probably benign 0.04
R7064:Cyp2a4 UTSW 7 26312307 missense probably benign 0.02
R7419:Cyp2a4 UTSW 7 26314763 missense probably benign 0.00
R7562:Cyp2a4 UTSW 7 26312896 missense possibly damaging 0.88
Posted On2014-05-07