Incidental Mutation 'IGL02053:Cyp2j8'
ID185127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2j8
Ensembl Gene ENSMUSG00000082932
Gene Namecytochrome P450, family 2, subfamily j, polypeptide 8
SynonymsCyp2j8-ps, OTTMUSG00000007938
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02053
Quality Score
Status
Chromosome4
Chromosomal Location96444596-96507386 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 96470654 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 343 (I343V)
Ref Sequence ENSEMBL: ENSMUSP00000134591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124729]
Predicted Effect probably damaging
Transcript: ENSMUST00000124729
AA Change: I343V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134591
Gene: ENSMUSG00000082932
AA Change: I343V

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 44 500 1.2e-134 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik T C 6: 129,326,762 Q80R probably benign Het
Adgrf5 T C 17: 43,450,167 S918P possibly damaging Het
AY358078 G T 14: 51,805,552 E232D unknown Het
Baz1b C A 5: 135,242,466 P1301Q probably benign Het
Btn2a2 T C 13: 23,478,820 D311G probably damaging Het
Cept1 A T 3: 106,533,396 L149Q probably damaging Het
Col6a4 T A 9: 106,063,095 D1212V possibly damaging Het
Dapk2 A G 9: 66,220,745 I102V probably benign Het
Dntt A G 19: 41,046,274 T321A probably benign Het
Ezh1 T C 11: 101,199,943 probably benign Het
Fam189a1 C T 7: 64,819,842 G53R probably damaging Het
Fbxw5 T C 2: 25,503,441 V18A probably damaging Het
Fgd5 T A 6: 92,053,244 C1109S probably benign Het
Ms4a6c A G 19: 11,478,222 I132V probably benign Het
Ncoa3 T C 2: 166,054,834 L515P probably damaging Het
Nfic A G 10: 81,420,551 V115A probably damaging Het
P4ha2 A G 11: 54,117,587 T207A probably benign Het
Pde10a G T 17: 8,974,769 V732L probably damaging Het
Pfas A T 11: 68,992,953 L626Q probably damaging Het
Plekha6 A G 1: 133,272,492 N270D probably damaging Het
Prdm10 T C 9: 31,360,848 S977P probably benign Het
Ptprm A G 17: 66,693,841 L1073P probably damaging Het
Rai14 A C 15: 10,633,156 H49Q probably benign Het
Ros1 T A 10: 52,162,720 I394F probably damaging Het
Sec14l1 C T 11: 117,156,912 probably benign Het
Sema5a A G 15: 32,550,267 I151V probably benign Het
Tet2 T A 3: 133,488,523 N50I possibly damaging Het
Tubal3 A C 13: 3,933,159 D313A probably damaging Het
Usp45 A G 4: 21,824,553 N483S probably benign Het
Other mutations in Cyp2j8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Cyp2j8 APN 4 96503842 missense probably benign 0.06
IGL00418:Cyp2j8 APN 4 96444616 missense possibly damaging 0.85
IGL01577:Cyp2j8 APN 4 96479071 missense probably damaging 0.96
IGL01629:Cyp2j8 APN 4 96499603 missense probably damaging 1.00
IGL01928:Cyp2j8 APN 4 96470476 splice site probably benign
IGL01978:Cyp2j8 APN 4 96504009 splice site probably null
IGL02500:Cyp2j8 APN 4 96470650 missense probably damaging 1.00
IGL02947:Cyp2j8 APN 4 96470578 missense probably damaging 1.00
cyprus UTSW 4 96499603 missense probably damaging 1.00
R0558:Cyp2j8 UTSW 4 96444634 missense probably benign 0.01
R0718:Cyp2j8 UTSW 4 96501196 missense probably benign
R1553:Cyp2j8 UTSW 4 96475557 missense probably benign
R1557:Cyp2j8 UTSW 4 96470476 splice site probably benign
R1632:Cyp2j8 UTSW 4 96447324 missense probably benign 0.02
R1708:Cyp2j8 UTSW 4 96499595 missense probably damaging 1.00
R2119:Cyp2j8 UTSW 4 96507201 missense probably benign
R2220:Cyp2j8 UTSW 4 96444625 missense probably benign 0.03
R3123:Cyp2j8 UTSW 4 96501213 splice site probably benign
R3735:Cyp2j8 UTSW 4 96444599 missense probably damaging 1.00
R3736:Cyp2j8 UTSW 4 96444599 missense probably damaging 1.00
R4326:Cyp2j8 UTSW 4 96507329 missense probably benign 0.10
R4327:Cyp2j8 UTSW 4 96507329 missense probably benign 0.10
R4762:Cyp2j8 UTSW 4 96470649 missense probably damaging 1.00
R4901:Cyp2j8 UTSW 4 96479086 missense probably benign 0.16
R4960:Cyp2j8 UTSW 4 96507377 missense probably benign
R5260:Cyp2j8 UTSW 4 96501064 missense possibly damaging 0.65
R5562:Cyp2j8 UTSW 4 96470653 missense probably damaging 1.00
R5596:Cyp2j8 UTSW 4 96507341 missense probably benign 0.00
R5741:Cyp2j8 UTSW 4 96444643 missense probably benign 0.00
R5825:Cyp2j8 UTSW 4 96507214 missense probably benign 0.01
R5903:Cyp2j8 UTSW 4 96507277 missense possibly damaging 0.46
R6122:Cyp2j8 UTSW 4 96444640 missense probably benign
R6232:Cyp2j8 UTSW 4 96507190 missense possibly damaging 0.94
R6748:Cyp2j8 UTSW 4 96475545 missense probably benign 0.01
R6931:Cyp2j8 UTSW 4 96444781 splice site probably null
R7000:Cyp2j8 UTSW 4 96447351 missense probably benign 0.06
R7183:Cyp2j8 UTSW 4 96479181 missense probably damaging 0.97
R7186:Cyp2j8 UTSW 4 96475550 missense probably benign 0.00
R7348:Cyp2j8 UTSW 4 96444640 missense probably benign 0.00
R7575:Cyp2j8 UTSW 4 96470548 missense possibly damaging 0.63
R7648:Cyp2j8 UTSW 4 96499603 missense probably damaging 1.00
R7975:Cyp2j8 UTSW 4 96470539 missense possibly damaging 0.65
R7993:Cyp2j8 UTSW 4 96447219 critical splice donor site probably null
R8878:Cyp2j8 UTSW 4 96470570 missense possibly damaging 0.56
Posted On2014-05-07