Incidental Mutation 'E7848:Cyp2j11'
ID 55
Institutional Source Beutler Lab
Gene Symbol Cyp2j11
Ensembl Gene ENSMUSG00000066097
Gene Name cytochrome P450, family 2, subfamily j, polypeptide 11
Synonyms Cyp2j11-ps
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # E7848 of strain Klein-zschocher
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 96182745-96236899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96207602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 238 (I238L)
Ref Sequence ENSEMBL: ENSMUSP00000132180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015368]
AlphaFold Q3UNV2
Predicted Effect probably benign
Transcript: ENSMUST00000015368
AA Change: I238L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132180
Gene: ENSMUSG00000066097
AA Change: I238L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 44 500 4.3e-133 PFAM
Meta Mutation Damage Score 0.0976 question?
Coding Region Coverage
  • 1x: 86.1%
  • 3x: 63.4%
Validation Efficiency 94% (82/87)
Allele List at MGI
Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn2 T A 1: 182,314,159 (GRCm39) D362V possibly damaging Het
Cdsn T C 17: 35,867,004 (GRCm39) V511A probably benign Homo
Nat8f5 T G 6: 85,794,601 (GRCm39) T120P probably damaging Homo
Sybu A T 15: 44,536,818 (GRCm39) S375T probably benign Homo
Trappc8 T C 18: 20,983,975 (GRCm39) H680R probably damaging Het
Other mutations in Cyp2j11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Cyp2j11 APN 4 96,227,332 (GRCm39) missense probably benign
IGL01816:Cyp2j11 APN 4 96,183,161 (GRCm39) missense probably damaging 1.00
IGL02406:Cyp2j11 APN 4 96,236,776 (GRCm39) missense possibly damaging 0.56
R0020:Cyp2j11 UTSW 4 96,195,641 (GRCm39) missense probably benign 0.19
R0020:Cyp2j11 UTSW 4 96,195,641 (GRCm39) missense probably benign 0.19
R1298:Cyp2j11 UTSW 4 96,195,497 (GRCm39) critical splice donor site probably null
R1411:Cyp2j11 UTSW 4 96,233,453 (GRCm39) missense probably benign 0.03
R1428:Cyp2j11 UTSW 4 96,183,117 (GRCm39) missense probably benign 0.01
R1740:Cyp2j11 UTSW 4 96,207,613 (GRCm39) missense probably benign 0.00
R1818:Cyp2j11 UTSW 4 96,185,976 (GRCm39) missense probably damaging 0.97
R1819:Cyp2j11 UTSW 4 96,185,976 (GRCm39) missense probably damaging 0.97
R1917:Cyp2j11 UTSW 4 96,228,211 (GRCm39) missense probably damaging 1.00
R2084:Cyp2j11 UTSW 4 96,227,438 (GRCm39) missense probably damaging 1.00
R2146:Cyp2j11 UTSW 4 96,204,595 (GRCm39) missense probably damaging 1.00
R2148:Cyp2j11 UTSW 4 96,204,595 (GRCm39) missense probably damaging 1.00
R2150:Cyp2j11 UTSW 4 96,204,595 (GRCm39) missense probably damaging 1.00
R4963:Cyp2j11 UTSW 4 96,204,619 (GRCm39) missense probably damaging 1.00
R5335:Cyp2j11 UTSW 4 96,195,589 (GRCm39) missense probably damaging 1.00
R5450:Cyp2j11 UTSW 4 96,228,113 (GRCm39) missense probably benign 0.44
R5688:Cyp2j11 UTSW 4 96,233,358 (GRCm39) missense probably damaging 1.00
R5978:Cyp2j11 UTSW 4 96,207,589 (GRCm39) missense probably damaging 1.00
R6061:Cyp2j11 UTSW 4 96,236,853 (GRCm39) start gained probably benign
R6075:Cyp2j11 UTSW 4 96,233,322 (GRCm39) missense probably benign 0.04
R6912:Cyp2j11 UTSW 4 96,183,108 (GRCm39) missense probably benign 0.00
R7338:Cyp2j11 UTSW 4 96,195,524 (GRCm39) missense possibly damaging 0.64
R7394:Cyp2j11 UTSW 4 96,204,677 (GRCm39) missense probably benign 0.00
R7464:Cyp2j11 UTSW 4 96,233,357 (GRCm39) missense probably damaging 1.00
R7972:Cyp2j11 UTSW 4 96,185,871 (GRCm39) missense probably damaging 1.00
R8152:Cyp2j11 UTSW 4 96,195,529 (GRCm39) missense probably damaging 1.00
R8328:Cyp2j11 UTSW 4 96,236,605 (GRCm39) missense probably benign 0.03
R8383:Cyp2j11 UTSW 4 96,236,695 (GRCm39) missense probably benign 0.00
R8519:Cyp2j11 UTSW 4 96,207,539 (GRCm39) missense probably benign 0.44
R8789:Cyp2j11 UTSW 4 96,227,405 (GRCm39) missense probably damaging 0.99
R9268:Cyp2j11 UTSW 4 96,207,781 (GRCm39) intron probably benign
R9323:Cyp2j11 UTSW 4 96,195,619 (GRCm39) missense probably benign 0.01
R9457:Cyp2j11 UTSW 4 96,195,596 (GRCm39) missense probably damaging 0.98
R9590:Cyp2j11 UTSW 4 96,195,614 (GRCm39) missense probably benign 0.11
Z1176:Cyp2j11 UTSW 4 96,195,673 (GRCm39) missense probably damaging 0.99
Z1176:Cyp2j11 UTSW 4 96,195,540 (GRCm39) missense probably damaging 0.99
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to T transversion at position 825 of the Cyp2j11 transcript, in exon 5 of 9 total exons. The mutated nucleotide causes an isoleucine to leucine substitution at amino acid 238. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Cyp2j11 gene encodes a 504 amino acid protein that is a Cytochrome P450, subfamily E, group I enzyme. Cytochrome P450 enzymes are a superfamily of heme-containing mono-oxygenases with diverse substrates and functions (InterPro IPR002401). Analysis of the protein sequence by the SMART program predicted a signal peptide at amino acids 1-32.
 
The I238L change is predicted to be benign by the PolyPhen program.
Posted On 2009-11-13