Incidental Mutation 'IGL02727:Cyp2j6'
ID 305253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2j6
Ensembl Gene ENSMUSG00000052914
Gene Name cytochrome P450, family 2, subfamily j, polypeptide 6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02727
Quality Score
Status
Chromosome 4
Chromosomal Location 96404375-96441898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96434001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 103 (Q103L)
Ref Sequence ENSEMBL: ENSMUSP00000030303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030303]
AlphaFold O54750
Predicted Effect probably benign
Transcript: ENSMUST00000030303
AA Change: Q103L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: Q103L

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 44 497 6.6e-138 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,226,724 (GRCm39) T13A probably benign Het
Aldh1l2 T A 10: 83,342,469 (GRCm39) K447I probably damaging Het
Ankrd17 A G 5: 90,392,151 (GRCm39) S1840P possibly damaging Het
Ash1l A G 3: 88,930,344 (GRCm39) I1940M probably benign Het
Bfar T G 16: 13,506,791 (GRCm39) probably null Het
Bicra G T 7: 15,713,390 (GRCm39) H937Q possibly damaging Het
Brip1 A T 11: 86,043,562 (GRCm39) M334K probably benign Het
Camsap2 T G 1: 136,232,050 (GRCm39) M182L probably benign Het
Chd6 A T 2: 160,811,383 (GRCm39) C1407S probably damaging Het
Cmya5 A G 13: 93,234,753 (GRCm39) S112P possibly damaging Het
Csmd1 A T 8: 16,281,341 (GRCm39) V728E probably damaging Het
Ddias A T 7: 92,515,830 (GRCm39) I21K probably damaging Het
Derl2 A C 11: 70,904,036 (GRCm39) probably benign Het
Dgka A T 10: 128,558,317 (GRCm39) probably benign Het
Dusp11 T C 6: 85,938,474 (GRCm39) D15G probably damaging Het
Enpp2 T C 15: 54,773,577 (GRCm39) D110G probably damaging Het
Fkbp11 A T 15: 98,622,471 (GRCm39) V134E probably damaging Het
Gm3248 T C 14: 5,945,036 (GRCm38) T49A probably damaging Het
Gm57858 T A 3: 36,087,065 (GRCm39) R176S possibly damaging Het
Irag2 T C 6: 145,120,344 (GRCm39) S520P possibly damaging Het
Luzp2 T C 7: 54,821,939 (GRCm39) probably benign Het
Manea C A 4: 26,328,127 (GRCm39) E305* probably null Het
Manea T A 4: 26,328,126 (GRCm39) E305V probably damaging Het
Megf6 A G 4: 154,337,606 (GRCm39) probably null Het
Mrpl3 G T 9: 104,931,726 (GRCm39) D59Y probably damaging Het
Myh9 T C 15: 77,675,942 (GRCm39) Y248C probably benign Het
Nbeal2 G A 9: 110,468,353 (GRCm39) probably benign Het
Or10a5 G T 7: 106,635,902 (GRCm39) C180F probably damaging Het
Or1f19 T A 16: 3,411,190 (GRCm39) I310K probably benign Het
Or2y1c G T 11: 49,361,893 (GRCm39) G305V probably benign Het
Or8b40 A G 9: 38,027,808 (GRCm39) T239A probably damaging Het
Pax8 C A 2: 24,331,642 (GRCm39) C147F probably damaging Het
Phf12 T C 11: 77,914,493 (GRCm39) V96A possibly damaging Het
Psg18 A T 7: 18,079,875 (GRCm39) I442K probably damaging Het
Pygl T A 12: 70,254,442 (GRCm39) probably null Het
Rassf2 C A 2: 131,846,307 (GRCm39) R150L probably benign Het
Rdh7 A T 10: 127,723,487 (GRCm39) W123R probably damaging Het
Saal1 T C 7: 46,339,223 (GRCm39) probably null Het
Sall1 T C 8: 89,757,383 (GRCm39) D907G probably damaging Het
Spag1 T A 15: 36,234,964 (GRCm39) F876I probably damaging Het
Syncrip G A 9: 88,361,932 (GRCm39) A61V probably damaging Het
Trbv3 A T 6: 41,025,576 (GRCm39) K55N probably benign Het
Vmn1r178 A G 7: 23,593,871 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,229,995 (GRCm39) D39G possibly damaging Het
Other mutations in Cyp2j6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Cyp2j6 APN 4 96,424,283 (GRCm39) missense possibly damaging 0.78
IGL01543:Cyp2j6 APN 4 96,414,161 (GRCm39) missense possibly damaging 0.78
IGL02324:Cyp2j6 APN 4 96,414,170 (GRCm39) missense probably damaging 0.99
IGL02963:Cyp2j6 APN 4 96,406,421 (GRCm39) missense probably damaging 1.00
IGL03099:Cyp2j6 APN 4 96,424,328 (GRCm39) missense possibly damaging 0.65
R0109:Cyp2j6 UTSW 4 96,406,394 (GRCm39) missense probably damaging 0.99
R0109:Cyp2j6 UTSW 4 96,406,394 (GRCm39) missense probably damaging 0.99
R0376:Cyp2j6 UTSW 4 96,414,260 (GRCm39) missense probably damaging 0.99
R0448:Cyp2j6 UTSW 4 96,433,965 (GRCm39) missense probably benign
R0471:Cyp2j6 UTSW 4 96,419,985 (GRCm39) nonsense probably null
R0734:Cyp2j6 UTSW 4 96,412,081 (GRCm39) splice site probably benign
R1497:Cyp2j6 UTSW 4 96,419,898 (GRCm39) missense probably damaging 1.00
R1686:Cyp2j6 UTSW 4 96,412,014 (GRCm39) missense probably benign 0.08
R2079:Cyp2j6 UTSW 4 96,419,962 (GRCm39) missense possibly damaging 0.87
R2293:Cyp2j6 UTSW 4 96,417,670 (GRCm39) missense possibly damaging 0.87
R2350:Cyp2j6 UTSW 4 96,417,645 (GRCm39) missense probably damaging 1.00
R2971:Cyp2j6 UTSW 4 96,420,018 (GRCm39) missense probably benign 0.06
R3927:Cyp2j6 UTSW 4 96,441,525 (GRCm39) missense probably benign 0.15
R4020:Cyp2j6 UTSW 4 96,406,407 (GRCm39) missense probably benign 0.03
R5087:Cyp2j6 UTSW 4 96,419,936 (GRCm39) missense probably damaging 0.99
R5309:Cyp2j6 UTSW 4 96,423,793 (GRCm39) missense probably damaging 1.00
R5861:Cyp2j6 UTSW 4 96,434,040 (GRCm39) missense possibly damaging 0.81
R5882:Cyp2j6 UTSW 4 96,423,839 (GRCm39) missense probably benign 0.00
R6123:Cyp2j6 UTSW 4 96,406,266 (GRCm39) makesense probably null
R6180:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6181:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6182:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6185:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6186:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6217:Cyp2j6 UTSW 4 96,406,398 (GRCm39) missense probably damaging 1.00
R6784:Cyp2j6 UTSW 4 96,423,741 (GRCm39) missense possibly damaging 0.70
R7038:Cyp2j6 UTSW 4 96,423,708 (GRCm39) missense probably benign
R7146:Cyp2j6 UTSW 4 96,434,019 (GRCm39) missense probably damaging 1.00
R7379:Cyp2j6 UTSW 4 96,414,183 (GRCm39) missense probably damaging 0.99
R7470:Cyp2j6 UTSW 4 96,423,708 (GRCm39) missense probably benign
R7536:Cyp2j6 UTSW 4 96,423,774 (GRCm39) missense probably damaging 1.00
R7789:Cyp2j6 UTSW 4 96,433,953 (GRCm39) missense probably benign 0.00
R8321:Cyp2j6 UTSW 4 96,441,684 (GRCm39) missense probably benign 0.07
R8836:Cyp2j6 UTSW 4 96,411,983 (GRCm39) missense probably damaging 1.00
R8897:Cyp2j6 UTSW 4 96,414,087 (GRCm39) missense probably benign 0.23
R9315:Cyp2j6 UTSW 4 96,420,035 (GRCm39) missense probably benign 0.05
R9507:Cyp2j6 UTSW 4 96,406,344 (GRCm39) nonsense probably null
R9563:Cyp2j6 UTSW 4 96,414,245 (GRCm39) missense probably damaging 1.00
R9564:Cyp2j6 UTSW 4 96,414,245 (GRCm39) missense probably damaging 1.00
R9565:Cyp2j6 UTSW 4 96,414,245 (GRCm39) missense probably damaging 1.00
R9618:Cyp2j6 UTSW 4 96,414,085 (GRCm39) missense probably benign 0.36
R9745:Cyp2j6 UTSW 4 96,441,621 (GRCm39) missense possibly damaging 0.82
Z1176:Cyp2j6 UTSW 4 96,424,305 (GRCm39) nonsense probably null
Posted On 2015-04-16