Incidental Mutation 'R7348:Cyp2t4'
ID 570353
Institutional Source Beutler Lab
Gene Symbol Cyp2t4
Ensembl Gene ENSMUSG00000078787
Gene Name cytochrome P450, family 2, subfamily t, polypeptide 4
Synonyms LOC384724
MMRRC Submission 045380-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R7348 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 26853139-26857989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26856676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 239 (I239V)
Ref Sequence ENSEMBL: ENSMUSP00000126779 (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: I231V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104022
Gene: ENSMUSG00000078787
AA Change: I231V

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 35 492 5.3e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164093
AA Change: I239V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000126779
Gene: ENSMUSG00000078787
AA Change: I239V

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:p450 43 500 2.6e-130 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra G A 15: 41,729,555 (GRCm39) R282C probably damaging Het
Adcy2 T A 13: 68,882,794 (GRCm39) E314D possibly damaging Het
Adgrl2 A T 3: 148,523,402 (GRCm39) I274N Het
Adpgk A G 9: 59,221,069 (GRCm39) I292V probably benign Het
Agtrap G T 4: 148,165,054 (GRCm39) F124L probably benign Het
Ankrd26 A G 6: 118,485,525 (GRCm39) Y1450H probably damaging Het
Ap4e1 A T 2: 126,903,896 (GRCm39) S933C probably damaging Het
Ap4e1 G T 2: 126,903,897 (GRCm39) S933I possibly damaging Het
Ap5s1 A T 2: 131,054,572 (GRCm39) T128S possibly damaging Het
Arih1 T C 9: 59,393,341 (GRCm39) Y97C probably damaging Het
Atp1a3 A G 7: 24,678,251 (GRCm39) F1034S unknown Het
Bmp6 T C 13: 38,669,879 (GRCm39) S388P probably benign Het
Ccdc39 A G 3: 33,886,825 (GRCm39) V261A possibly damaging Het
Ccdc66 C T 14: 27,222,293 (GRCm39) C150Y probably damaging Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cln6 A G 9: 62,756,458 (GRCm39) S201G probably benign Het
Cntnap4 T C 8: 113,391,909 (GRCm39) Y125H probably damaging Het
Copa A G 1: 171,929,790 (GRCm39) T286A possibly damaging Het
Cul9 A T 17: 46,821,919 (GRCm39) I1852K possibly damaging Het
Cyp2j8 C A 4: 96,332,877 (GRCm39) A490S probably benign Het
Dpcd A G 19: 45,560,905 (GRCm39) Y111C probably damaging Het
E2f7 C T 10: 110,616,836 (GRCm39) T692I probably damaging Het
Fastkd5 A G 2: 130,457,055 (GRCm39) Y512H probably damaging Het
Fastkd5 A C 2: 130,458,359 (GRCm39) M77R probably benign Het
Fhod3 A G 18: 25,223,524 (GRCm39) R957G possibly damaging Het
H6pd C A 4: 150,068,359 (GRCm39) probably null Het
Haus5 G T 7: 30,356,391 (GRCm39) P544Q possibly damaging Het
Ifi207 CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG 1: 173,556,762 (GRCm39) probably benign Het
Igf2r A G 17: 12,922,371 (GRCm39) Y1248H probably damaging Het
Izumo3 T C 4: 92,035,455 (GRCm39) N6S possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Map3k8 T A 18: 4,340,561 (GRCm39) H251L probably damaging Het
Mapre3 T C 5: 31,019,173 (GRCm39) Y6H probably benign Het
Mlh3 G T 12: 85,314,215 (GRCm39) P657Q probably damaging Het
Mrgpra1 T C 7: 46,985,157 (GRCm39) Y174C probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myh1 C A 11: 67,093,365 (GRCm39) P152Q probably damaging Het
Myh6 A T 14: 55,189,716 (GRCm39) L1110Q probably damaging Het
Nf1 T A 11: 79,427,676 (GRCm39) S1778T probably benign Het
Nkpd1 G A 7: 19,258,341 (GRCm39) E707K probably damaging Het
Nlrp4a A G 7: 26,143,698 (GRCm39) E21G probably damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Or2f1 T C 6: 42,721,790 (GRCm39) L273S possibly damaging Het
Or5p1 T C 7: 107,916,920 (GRCm39) V273A possibly damaging Het
Or5p64 T C 7: 107,855,330 (GRCm39) D5G probably benign Het
Or7a38 A G 10: 78,753,396 (GRCm39) T241A probably damaging Het
Parg G A 14: 31,972,036 (GRCm39) R677Q possibly damaging Het
Pcsk5 A T 19: 17,434,182 (GRCm39) C1395* probably null Het
Psd2 G A 18: 36,113,389 (GRCm39) S287N possibly damaging Het
Psd3 T C 8: 68,243,583 (GRCm39) N685S possibly damaging Het
Pygb C T 2: 150,628,903 (GRCm39) T39M probably benign Het
Rbfox1 C A 16: 7,225,888 (GRCm39) Y351* probably null Het
Rftn1 A G 17: 50,311,351 (GRCm39) L396P probably damaging Het
S1pr1 A G 3: 115,505,710 (GRCm39) Y295H probably damaging Het
Scn5a T C 9: 119,364,899 (GRCm39) M440V probably benign Het
Sel1l2 T C 2: 140,107,644 (GRCm39) N240S probably benign Het
Skic3 T C 13: 76,331,003 (GRCm39) F1478L possibly damaging Het
Skint1 T C 4: 111,878,770 (GRCm39) L234P probably damaging Het
Skint11 T A 4: 114,101,919 (GRCm39) Y311N probably benign Het
Slc6a5 A T 7: 49,559,915 (GRCm39) probably benign Het
Tas2r134 T C 2: 51,518,414 (GRCm39) S298P possibly damaging Het
Tbcd C A 11: 121,485,137 (GRCm39) A773D probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tmem184a T C 5: 139,799,809 (GRCm39) E24G probably null Het
Tmem207 C A 16: 26,335,577 (GRCm39) W53C possibly damaging Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Ttc41 G T 10: 86,586,212 (GRCm39) E839* probably null Het
Ufd1 T G 16: 18,634,635 (GRCm39) probably benign Het
Usp28 A G 9: 48,942,177 (GRCm39) E713G probably benign Het
Utrn A G 10: 12,623,762 (GRCm39) W159R probably damaging Het
Vcl C T 14: 21,053,218 (GRCm39) A411V probably benign Het
Vcl T A 14: 21,059,020 (GRCm39) C545* probably null Het
Vmn1r120 A T 7: 20,787,377 (GRCm39) S111R probably damaging Het
Wwox T A 8: 115,199,392 (GRCm39) C146S probably benign Het
Zbtb2 T C 10: 4,324,574 (GRCm39) T57A possibly damaging Het
Zfp362 T C 4: 128,671,010 (GRCm39) D336G possibly damaging Het
Zfp628 G A 7: 4,924,817 (GRCm39) G1013E probably damaging Het
Zfp704 A G 3: 9,539,658 (GRCm39) S231P probably damaging Het
Zhx3 G T 2: 160,624,038 (GRCm39) S43* probably null Het
Other mutations in Cyp2t4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Cyp2t4 APN 7 26,854,723 (GRCm39) missense probably benign 0.00
IGL00706:Cyp2t4 APN 7 26,854,583 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TTGTCCAGGGCCCTATTAAGAC -3'
(R):5'- TCTAATGCCTGCTGCTTGGC -3'

Sequencing Primer
(F):5'- GGGCCCTATTAAGACCATTTCAG -3'
(R):5'- GCAGGGTGGGTATGGTTAAG -3'
Posted On 2019-09-13