Incidental Mutation 'IGL02694:Cyp2c54'
ID 303846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2c54
Ensembl Gene ENSMUSG00000067225
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 54
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL02694
Quality Score
Status
Chromosome 19
Chromosomal Location 40026384-40062271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40035987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 308 (Y308H)
Ref Sequence ENSEMBL: ENSMUSP00000048284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048959]
AlphaFold Q6XVG2
Predicted Effect possibly damaging
Transcript: ENSMUST00000048959
AA Change: Y308H

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: Y308H

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:p450 30 487 2.2e-159 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 A G 7: 97,866,084 (GRCm39) I213T probably benign Het
Alox8 T A 11: 69,077,455 (GRCm39) T432S probably damaging Het
Col4a3 T C 1: 82,688,515 (GRCm39) probably benign Het
Dscam A G 16: 96,394,476 (GRCm39) V1942A probably benign Het
F11 T C 8: 45,705,196 (GRCm39) Y115C probably damaging Het
Fam13b A G 18: 34,584,259 (GRCm39) probably null Het
Gykl1 A G 18: 52,827,257 (GRCm39) H155R probably benign Het
Lmo7 T A 14: 102,124,606 (GRCm39) V355D probably damaging Het
Lrtm2 T A 6: 119,297,846 (GRCm39) D65V possibly damaging Het
Ly6g6f C T 17: 35,300,144 (GRCm39) V235M possibly damaging Het
Mlxipl G A 5: 135,152,872 (GRCm39) probably null Het
Or11j4 A G 14: 50,630,257 (GRCm39) I15V probably benign Het
Or13a20 A G 7: 140,232,093 (GRCm39) N67S probably damaging Het
Or14a256 C T 7: 86,265,518 (GRCm39) V112I probably benign Het
Ppp2r1a A G 17: 21,171,702 (GRCm39) probably benign Het
Psmb2 A G 4: 126,603,351 (GRCm39) N193S probably benign Het
Rassf2 A T 2: 131,851,641 (GRCm39) Y34N possibly damaging Het
Ryr2 A G 13: 11,620,075 (GRCm39) F3841L probably damaging Het
Skint2 A G 4: 112,473,792 (GRCm39) probably benign Het
Spdl1 T C 11: 34,704,448 (GRCm39) I462V probably benign Het
Spopfm1 A G 3: 94,173,459 (GRCm39) M152V probably benign Het
Tlk2 A G 11: 105,112,061 (GRCm39) E138G probably benign Het
Vmn1r89 A G 7: 12,954,056 (GRCm39) E196G probably benign Het
Zfp142 A G 1: 74,609,307 (GRCm39) L1496P probably damaging Het
Zfp689 T C 7: 127,047,573 (GRCm39) D94G possibly damaging Het
Zfp944 A G 17: 22,558,899 (GRCm39) V116A probably benign Het
Other mutations in Cyp2c54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Cyp2c54 APN 19 40,060,522 (GRCm39) missense probably damaging 1.00
IGL03170:Cyp2c54 APN 19 40,060,809 (GRCm39) critical splice donor site probably null
IGL03175:Cyp2c54 APN 19 40,058,672 (GRCm39) missense probably benign 0.00
R0097:Cyp2c54 UTSW 19 40,036,103 (GRCm39) splice site probably benign
R0097:Cyp2c54 UTSW 19 40,036,102 (GRCm39) splice site probably benign
R0391:Cyp2c54 UTSW 19 40,060,613 (GRCm39) missense possibly damaging 0.61
R0581:Cyp2c54 UTSW 19 40,035,999 (GRCm39) missense probably benign 0.23
R0787:Cyp2c54 UTSW 19 40,036,079 (GRCm39) missense probably benign 0.12
R1253:Cyp2c54 UTSW 19 40,034,629 (GRCm39) missense probably damaging 1.00
R1481:Cyp2c54 UTSW 19 40,036,032 (GRCm39) missense probably benign 0.30
R1604:Cyp2c54 UTSW 19 40,058,787 (GRCm39) missense probably benign 0.01
R3624:Cyp2c54 UTSW 19 40,058,688 (GRCm39) missense probably benign 0.21
R3871:Cyp2c54 UTSW 19 40,060,867 (GRCm39) missense probably benign 0.37
R3983:Cyp2c54 UTSW 19 40,034,699 (GRCm39) missense possibly damaging 0.49
R4401:Cyp2c54 UTSW 19 40,060,615 (GRCm39) missense probably benign 0.04
R4416:Cyp2c54 UTSW 19 40,026,703 (GRCm39) missense probably benign 0.04
R4962:Cyp2c54 UTSW 19 40,060,585 (GRCm39) missense possibly damaging 0.90
R5203:Cyp2c54 UTSW 19 40,060,918 (GRCm39) missense probably damaging 1.00
R5634:Cyp2c54 UTSW 19 40,060,858 (GRCm39) missense possibly damaging 0.84
R6083:Cyp2c54 UTSW 19 40,062,206 (GRCm39) missense probably benign 0.20
R6182:Cyp2c54 UTSW 19 40,036,005 (GRCm39) missense probably benign
R6754:Cyp2c54 UTSW 19 40,060,004 (GRCm39) missense probably damaging 1.00
R6901:Cyp2c54 UTSW 19 40,058,703 (GRCm39) missense probably damaging 1.00
R6948:Cyp2c54 UTSW 19 40,034,636 (GRCm39) missense possibly damaging 0.73
R7215:Cyp2c54 UTSW 19 40,034,626 (GRCm39) missense probably damaging 1.00
R7244:Cyp2c54 UTSW 19 40,035,953 (GRCm39) missense probably damaging 1.00
R7278:Cyp2c54 UTSW 19 40,058,697 (GRCm39) nonsense probably null
R7535:Cyp2c54 UTSW 19 40,058,716 (GRCm39) missense probably benign
R7838:Cyp2c54 UTSW 19 40,058,688 (GRCm39) missense probably benign 0.21
R8039:Cyp2c54 UTSW 19 40,062,176 (GRCm39) frame shift probably null
R8275:Cyp2c54 UTSW 19 40,026,749 (GRCm39) missense probably benign 0.00
R8340:Cyp2c54 UTSW 19 40,060,831 (GRCm39) missense possibly damaging 0.94
R8367:Cyp2c54 UTSW 19 40,062,125 (GRCm39) missense probably damaging 0.99
R8477:Cyp2c54 UTSW 19 40,058,708 (GRCm39) missense probably benign 0.43
R8487:Cyp2c54 UTSW 19 40,059,990 (GRCm39) missense probably damaging 1.00
R8519:Cyp2c54 UTSW 19 40,026,857 (GRCm39) missense probably damaging 0.99
R8534:Cyp2c54 UTSW 19 40,036,030 (GRCm39) missense probably damaging 0.99
R8858:Cyp2c54 UTSW 19 40,062,227 (GRCm39) missense probably benign 0.00
R9215:Cyp2c54 UTSW 19 40,035,950 (GRCm39) missense possibly damaging 0.52
R9236:Cyp2c54 UTSW 19 40,060,938 (GRCm39) nonsense probably null
R9470:Cyp2c54 UTSW 19 40,060,888 (GRCm39) missense probably damaging 1.00
R9792:Cyp2c54 UTSW 19 40,034,525 (GRCm39) missense probably damaging 1.00
Z1176:Cyp2c54 UTSW 19 40,034,659 (GRCm39) missense probably damaging 1.00
Z1177:Cyp2c54 UTSW 19 40,062,201 (GRCm39) missense probably benign 0.10
Posted On 2015-04-16