Incidental Mutation 'IGL00706:Cyp2t4'
ID 10002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2t4
Ensembl Gene ENSMUSG00000078787
Gene Name cytochrome P450, family 2, subfamily t, polypeptide 4
Synonyms LOC384724
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL00706
Quality Score
Status
Chromosome 7
Chromosomal Location 26853139-26857989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26854583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 13 (I13T)
Ref Sequence ENSEMBL: ENSMUSP00000104022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080058] [ENSMUST00000108382] [ENSMUST00000108385] [ENSMUST00000164093]
AlphaFold E9PWV0
Predicted Effect probably benign
Transcript: ENSMUST00000080058
SMART Domains Protein: ENSMUSP00000078966
Gene: ENSMUSG00000058709

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 64 73 N/A INTRINSIC
Blast:P4Hc 75 136 3e-14 BLAST
low complexity region 154 174 N/A INTRINSIC
P4Hc 201 387 9.71e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108382
SMART Domains Protein: ENSMUSP00000104019
Gene: ENSMUSG00000058709

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 64 73 N/A INTRINSIC
Blast:P4Hc 75 136 3e-14 BLAST
low complexity region 154 174 N/A INTRINSIC
P4Hc 201 387 9.71e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108385
AA Change: I13T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000104022
Gene: ENSMUSG00000078787
AA Change: I13T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 35 492 5.3e-130 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152021
Predicted Effect probably benign
Transcript: ENSMUST00000164093
AA Change: I21T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126779
Gene: ENSMUSG00000078787
AA Change: I21T

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:p450 43 500 2.6e-130 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 8,991,094 (GRCm39) S4126* probably null Het
Arhgap26 T A 18: 39,419,604 (GRCm39) N521K probably damaging Het
Bard1 C T 1: 71,070,585 (GRCm39) R633H probably benign Het
Cntn3 C T 6: 102,180,910 (GRCm39) V762I probably benign Het
Cyp2e1 T C 7: 140,349,066 (GRCm39) I132T probably benign Het
Dhx36 A T 3: 62,404,263 (GRCm39) C227S probably damaging Het
Fetub A G 16: 22,754,446 (GRCm39) T138A probably benign Het
Gab3 C T X: 74,048,965 (GRCm39) S362N probably benign Het
Gpr158 T C 2: 21,751,584 (GRCm39) L501P probably damaging Het
Ifit1bl2 T A 19: 34,596,282 (GRCm39) T445S probably benign Het
Kdm5a T A 6: 120,383,597 (GRCm39) D779E possibly damaging Het
Ms4a5 C T 19: 11,261,142 (GRCm39) V6I probably benign Het
Rgl3 A G 9: 21,888,535 (GRCm39) F425S probably damaging Het
Rnf6 T C 5: 146,148,715 (GRCm39) D112G possibly damaging Het
Spink12 G A 18: 44,240,872 (GRCm39) C86Y probably damaging Het
Styxl2 T C 1: 165,928,121 (GRCm39) E497G probably benign Het
Wdr3 G A 3: 100,055,416 (GRCm39) probably benign Het
Other mutations in Cyp2t4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Cyp2t4 APN 7 26,854,723 (GRCm39) missense probably benign 0.00
IGL02926:Cyp2t4 APN 7 26,857,228 (GRCm39) missense probably damaging 1.00
R0560:Cyp2t4 UTSW 7 26,857,936 (GRCm39) missense probably damaging 0.99
R0632:Cyp2t4 UTSW 7 26,857,671 (GRCm39) missense possibly damaging 0.82
R0788:Cyp2t4 UTSW 7 26,854,588 (GRCm39) missense probably null
R1353:Cyp2t4 UTSW 7 26,856,055 (GRCm39) missense probably benign 0.03
R1652:Cyp2t4 UTSW 7 26,856,815 (GRCm39) missense possibly damaging 0.48
R1838:Cyp2t4 UTSW 7 26,857,841 (GRCm39) missense possibly damaging 0.92
R1997:Cyp2t4 UTSW 7 26,857,038 (GRCm39) critical splice donor site probably null
R2136:Cyp2t4 UTSW 7 26,857,585 (GRCm39) missense probably benign 0.32
R2963:Cyp2t4 UTSW 7 26,854,699 (GRCm39) missense possibly damaging 0.86
R6239:Cyp2t4 UTSW 7 26,856,900 (GRCm39) missense possibly damaging 0.73
R6634:Cyp2t4 UTSW 7 26,855,213 (GRCm39) nonsense probably null
R7251:Cyp2t4 UTSW 7 26,857,144 (GRCm39) missense possibly damaging 0.72
R7348:Cyp2t4 UTSW 7 26,856,676 (GRCm39) missense probably benign 0.01
R7436:Cyp2t4 UTSW 7 26,857,668 (GRCm39) missense probably damaging 0.99
R8350:Cyp2t4 UTSW 7 26,856,806 (GRCm39) missense possibly damaging 0.51
R8352:Cyp2t4 UTSW 7 26,857,162 (GRCm39) missense probably benign 0.04
R8405:Cyp2t4 UTSW 7 26,856,894 (GRCm39) critical splice acceptor site probably null
R8450:Cyp2t4 UTSW 7 26,856,806 (GRCm39) missense possibly damaging 0.51
R8452:Cyp2t4 UTSW 7 26,857,162 (GRCm39) missense probably benign 0.04
R9366:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9370:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9447:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9451:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9495:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9496:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9497:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9499:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9500:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9516:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9553:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9554:Cyp2t4 UTSW 7 26,854,717 (GRCm39) missense possibly damaging 0.80
R9682:Cyp2t4 UTSW 7 26,857,611 (GRCm39) missense probably damaging 1.00
R9732:Cyp2t4 UTSW 7 26,854,657 (GRCm39) missense probably damaging 0.97
Z1088:Cyp2t4 UTSW 7 26,857,171 (GRCm39) missense probably damaging 1.00
Z1177:Cyp2t4 UTSW 7 26,857,665 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06