Incidental Mutation 'IGL02926:Cyp2t4'
ID363871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2t4
Ensembl Gene ENSMUSG00000078787
Gene Namecytochrome P450, family 2, subfamily t, polypeptide 4
SynonymsLOC384724
Accession Numbers

Genbank: NM_001100184; MGI: 2686296

Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02926
Quality Score
Status
Chromosome7
Chromosomal Location27153714-27158668 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 27157803 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 356 (V356M)
Ref Sequence ENSEMBL: ENSMUSP00000104022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080058] [ENSMUST00000108382] [ENSMUST00000108385] [ENSMUST00000164093]
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 damaging
Transcript: ENSMUST00000108385
AA Change: V356M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104022
Gene: ENSMUSG00000078787
AA Change: V356M

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 possibly damaging
Transcript: ENSMUST00000164093
AA Change: V364M

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126779
Gene: ENSMUSG00000078787
AA Change: V364M

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,712,366 R921K probably benign Het
Alms1 A T 6: 85,641,450 D2826V probably damaging Het
Alpl C T 4: 137,742,634 A460T probably damaging Het
C2cd5 A G 6: 143,031,237 probably benign Het
C4b C T 17: 34,730,712 R1468Q possibly damaging Het
Calu A G 6: 29,366,920 T44A possibly damaging Het
Cgn T C 3: 94,778,016 K399R probably benign Het
D430041D05Rik T C 2: 104,214,259 D683G probably damaging Het
Dhcr24 T A 4: 106,586,355 I410N probably damaging Het
Dmap1 T A 4: 117,681,888 E17V probably benign Het
Dnah7a A G 1: 53,495,950 I2717T possibly damaging Het
Epb41l3 G T 17: 69,247,746 K280N probably damaging Het
Espl1 T A 15: 102,299,855 M432K probably damaging Het
Fgf5 C A 5: 98,262,015 A141E probably damaging Het
Fto T A 8: 91,485,167 F373L probably damaging Het
Gpatch1 T C 7: 35,308,269 D122G probably damaging Het
Ints11 T C 4: 155,888,111 probably null Het
Jarid2 A G 13: 44,902,929 Q398R probably benign Het
Kcnh1 A G 1: 192,276,900 D254G probably damaging Het
Lamc3 C T 2: 31,935,725 probably benign Het
Lamc3 C T 2: 31,935,726 probably benign Het
Ltbp4 T C 7: 27,328,872 probably null Het
Mcm6 A G 1: 128,339,382 Y575H probably damaging Het
Myh9 A C 15: 77,787,626 Y422D probably damaging Het
Narfl A G 17: 25,782,154 H460R probably benign Het
Olfr1260 T C 2: 89,978,162 L128P probably damaging Het
Olfr1458 A C 19: 13,102,823 N160K possibly damaging Het
Olfr911-ps1 T C 9: 38,523,725 probably benign Het
Plcb1 T C 2: 135,364,762 probably benign Het
Pmfbp1 A G 8: 109,520,249 E251G probably damaging Het
Psg27 A T 7: 18,557,129 V383E probably damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rbl1 A G 2: 157,167,413 V734A probably benign Het
Rspry1 T A 8: 94,649,811 N320K probably damaging Het
Ryr1 A T 7: 29,061,540 V3219D probably damaging Het
Ryr2 C A 13: 11,759,835 W1145L probably damaging Het
Scel A T 14: 103,576,247 R319* probably null Het
Stxbp2 C T 8: 3,635,629 T226I probably benign Het
Tac1 A T 6: 7,562,410 N106I possibly damaging Het
Trim13 G T 14: 61,605,244 probably null Het
Tspan31 T G 10: 127,068,909 probably null Het
Usp36 C T 11: 118,264,783 V723M probably benign Het
Utrn A T 10: 12,690,760 N1219K probably damaging Het
Vcan G T 13: 89,688,623 T2934K probably damaging Het
Other mutations in Cyp2t4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Cyp2t4 APN 7 27155298 missense probably benign 0.00
IGL00706:Cyp2t4 APN 7 27155158 missense probably benign 0.01
R0560:Cyp2t4 UTSW 7 27158511 missense probably damaging 0.99
R0632:Cyp2t4 UTSW 7 27158246 missense possibly damaging 0.82
R0788:Cyp2t4 UTSW 7 27155163 missense probably null
R1353:Cyp2t4 UTSW 7 27156630 missense probably benign 0.03
R1652:Cyp2t4 UTSW 7 27157390 missense possibly damaging 0.48
R1838:Cyp2t4 UTSW 7 27158416 missense possibly damaging 0.92
R1997:Cyp2t4 UTSW 7 27157613 critical splice donor site probably null
R2136:Cyp2t4 UTSW 7 27158160 missense probably benign 0.32
R2963:Cyp2t4 UTSW 7 27155274 missense possibly damaging 0.86
R6239:Cyp2t4 UTSW 7 27157475 missense possibly damaging 0.73
R6634:Cyp2t4 UTSW 7 27155788 nonsense probably null
Z1088:Cyp2t4 UTSW 7 27157746 missense probably damaging 1.00
Posted On2015-12-18