Incidental Mutation 'IGL03301:Cyp2ab1'
ID416228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2ab1
Ensembl Gene ENSMUSG00000022818
Gene Namecytochrome P450, family 2, subfamily ab, polypeptide 1
SynonymsEG224044
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03301
Quality Score
Status
Chromosome16
Chromosomal Location20308387-20325404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 20313799 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 250 (I250F)
Ref Sequence ENSEMBL: ENSMUSP00000138133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023513] [ENSMUST00000182508] [ENSMUST00000182741]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023513
AA Change: I32F

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023513
Gene: ENSMUSG00000022818
AA Change: I32F

DomainStartEndE-ValueType
Pfam:p450 1 268 3.7e-81 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000182508
AA Change: I32F

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182736
Predicted Effect possibly damaging
Transcript: ENSMUST00000182741
AA Change: I250F

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138133
Gene: ENSMUSG00000022818
AA Change: I250F

DomainStartEndE-ValueType
Pfam:p450 31 486 3.3e-121 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,707,404 E418G probably damaging Het
Arl14 T C 3: 69,222,943 F141S probably damaging Het
C1s1 A T 6: 124,541,324 probably benign Het
Cilp T C 9: 65,280,217 V1198A probably benign Het
Cnbd1 A T 4: 19,055,039 I129K probably benign Het
Ctdp1 G A 18: 80,449,634 Q549* probably null Het
Dmd G A X: 83,908,514 R1765Q probably damaging Het
Dnah1 C T 14: 31,292,692 G1739R probably damaging Het
Eml6 T C 11: 29,764,083 K1350E probably benign Het
Ephx4 C A 5: 107,426,864 T256K probably benign Het
Fnd3c2 G T X: 106,252,263 Q49K probably benign Het
Heatr1 G T 13: 12,434,205 G1889W probably damaging Het
Igkv19-93 A T 6: 68,736,481 W55R probably damaging Het
Jak1 T C 4: 101,175,173 Y412C probably damaging Het
Moxd1 A T 10: 24,279,484 N261I probably damaging Het
Mrgpra1 T C 7: 47,335,416 N172D probably benign Het
Papolg T C 11: 23,874,503 N293S probably benign Het
Piezo2 A G 18: 63,027,704 S2294P probably damaging Het
Ppp3cb A T 14: 20,523,984 V262D probably damaging Het
Rhox7a A G X: 37,840,011 T235A probably benign Het
Saal1 A G 7: 46,702,520 probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc22a2 A G 17: 12,606,039 R263G probably damaging Het
Speer3 T A 5: 13,795,433 L160H probably damaging Het
Tmcc2 T C 1: 132,360,819 M377V possibly damaging Het
Tsen2 T G 6: 115,568,771 Y341D probably damaging Het
Vmn2r13 A T 5: 109,158,089 V541D probably damaging Het
Vmn2r15 A G 5: 109,297,355 probably null Het
Zfp711 T C X: 112,633,401 Y710H probably damaging Het
Zmiz2 C T 11: 6,401,170 T566M probably damaging Het
Other mutations in Cyp2ab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02259:Cyp2ab1 APN 16 20313147 missense probably damaging 0.99
R2073:Cyp2ab1 UTSW 16 20313889 missense possibly damaging 0.57
R4657:Cyp2ab1 UTSW 16 20313072 missense probably damaging 1.00
R4851:Cyp2ab1 UTSW 16 20315064 missense probably damaging 1.00
R5546:Cyp2ab1 UTSW 16 20313757 missense probably damaging 1.00
R5845:Cyp2ab1 UTSW 16 20312332 missense probably benign 0.02
R7177:Cyp2ab1 UTSW 16 20316719 missense probably null 0.99
R7251:Cyp2ab1 UTSW 16 20315896 missense possibly damaging 0.70
R7410:Cyp2ab1 UTSW 16 20316725 missense probably benign
R7798:Cyp2ab1 UTSW 16 20312416 missense probably benign 0.04
R8053:Cyp2ab1 UTSW 16 20314268 missense probably benign 0.35
Z1177:Cyp2ab1 UTSW 16 20313881 missense possibly damaging 0.53
Posted On2016-08-02