Incidental Mutation 'R5837:Cyp2j13'
ID449638
Institutional Source Beutler Lab
Gene Symbol Cyp2j13
Ensembl Gene ENSMUSG00000028571
Gene Namecytochrome P450, family 2, subfamily j, polypeptide 13
Synonyms
MMRRC Submission 044057-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #R5837 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location96027534-96077546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96071682 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 79 (I79N)
Ref Sequence ENSEMBL: ENSMUSP00000102693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030305] [ENSMUST00000097973] [ENSMUST00000107078]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030305
AA Change: I79N

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030305
Gene: ENSMUSG00000028571
AA Change: I79N

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 44 499 6.7e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097973
AA Change: I79N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095587
Gene: ENSMUSG00000028571
AA Change: I79N

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 44 404 8.9e-97 PFAM
low complexity region 411 420 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107078
AA Change: I79N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102693
Gene: ENSMUSG00000028571
AA Change: I79N

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 44 231 2.5e-39 PFAM
Pfam:p450 218 345 8.6e-41 PFAM
low complexity region 352 361 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120275
Meta Mutation Damage Score 0.0292 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,433,359 R113Q probably benign Het
Ank1 A G 8: 23,104,790 N605D probably damaging Het
Apob A G 12: 8,003,277 M1240V probably benign Het
Atf1 T A 15: 100,254,384 I86N probably damaging Het
Best1 T A 19: 9,989,119 probably null Het
Bet1l C A 7: 140,854,781 R51L probably benign Het
Bpifa5 A G 2: 154,163,678 Y60C probably damaging Het
Ccdc141 G T 2: 77,108,437 Q275K possibly damaging Het
Cep295 T A 9: 15,346,984 H241L probably damaging Het
Commd7 A G 2: 153,629,224 V36A possibly damaging Het
Cyld G A 8: 88,741,404 S555N probably damaging Het
Dact2 A G 17: 14,196,253 S562P probably damaging Het
Diexf A T 1: 193,118,393 F373Y probably damaging Het
Dnajc13 T A 9: 104,176,666 I1664F possibly damaging Het
Ehmt1 A G 2: 24,863,914 V277A probably damaging Het
Fbn1 A T 2: 125,379,134 probably null Het
Galnt6 G A 15: 100,694,646 T560M possibly damaging Het
Glra1 G T 11: 55,536,507 probably null Het
Gm10762 C T 2: 128,967,157 probably benign Het
Greb1 C T 12: 16,688,585 R1459H probably damaging Het
Ift140 A G 17: 25,089,540 K1048E probably damaging Het
Ilk T C 7: 105,741,171 probably null Het
Lgi4 C T 7: 31,070,783 probably benign Het
Loxhd1 A G 18: 77,286,409 T59A possibly damaging Het
Lzic G T 4: 149,486,000 probably null Het
Mef2d A G 3: 88,161,781 T286A probably benign Het
Mycbp2 C A 14: 103,124,403 C4447F probably damaging Het
Ncoa2 A G 1: 13,224,706 probably benign Het
Nolc1 T C 19: 46,083,183 probably benign Het
Npl T C 1: 153,503,525 T271A probably benign Het
Nudt1 A G 5: 140,334,540 R25G probably damaging Het
Nudt19 T C 7: 35,551,636 E226G possibly damaging Het
Oc90 T C 15: 65,876,446 D405G probably benign Het
Olfr1111 A T 2: 87,150,355 F102Y probably benign Het
Olfr1491 T A 19: 13,704,960 C44* probably null Het
Olfr376 A G 11: 73,375,648 M300V probably benign Het
Olfr826 A T 10: 130,180,397 L161H probably damaging Het
Pcdhb1 T C 18: 37,265,827 I277T possibly damaging Het
Pcdhb9 C A 18: 37,402,798 A615E probably damaging Het
Phrf1 C G 7: 141,260,061 D1056E probably benign Het
Phyhip C A 14: 70,467,010 A223E probably damaging Het
Polr2h T A 16: 20,717,932 I4N probably damaging Het
Ppp1r12c C A 7: 4,497,404 probably benign Het
Pramef6 A G 4: 143,896,920 V228A probably benign Het
Psg17 T A 7: 18,820,215 T37S possibly damaging Het
Ptprz1 T C 6: 23,001,418 V1169A probably benign Het
Rabgap1l T C 1: 160,307,222 probably benign Het
Rapgef3 C T 15: 97,757,342 probably benign Het
Rbp3 C A 14: 33,954,273 H59Q probably benign Het
Robo3 T A 9: 37,429,816 probably null Het
Slco4c1 C T 1: 96,818,982 E712K probably benign Het
Ssh3 T C 19: 4,266,400 T168A probably benign Het
Stoml2 G T 4: 43,028,989 N248K probably damaging Het
Tmigd1 A G 11: 76,916,085 probably benign Het
Tnc T A 4: 64,013,214 D753V probably damaging Het
Tnik A T 3: 28,668,053 probably benign Het
Treml1 A G 17: 48,360,152 S22G possibly damaging Het
Trmt2a C T 16: 18,249,462 probably benign Het
Ttn T C 2: 76,717,374 T32151A probably damaging Het
Vmn1r67 T C 7: 10,447,022 I10T probably benign Het
Vmn2r116 T C 17: 23,387,080 F322S probably damaging Het
Wdr19 A G 5: 65,202,957 D35G probably benign Het
Zfp365 A T 10: 67,889,040 H339Q probably damaging Het
Zfp677 A T 17: 21,397,386 H235L probably damaging Het
Zpbp2 G A 11: 98,551,271 probably benign Het
Other mutations in Cyp2j13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Cyp2j13 APN 4 96062038 missense probably damaging 1.00
IGL01511:Cyp2j13 APN 4 96077315 missense possibly damaging 0.79
IGL01540:Cyp2j13 APN 4 96068722 splice site probably benign
IGL01923:Cyp2j13 APN 4 96062057 missense probably benign 0.00
IGL03124:Cyp2j13 APN 4 96061922 missense possibly damaging 0.78
IGL03389:Cyp2j13 APN 4 96068321 missense probably damaging 1.00
R0671:Cyp2j13 UTSW 4 96071695 missense probably damaging 0.97
R1351:Cyp2j13 UTSW 4 96056918 missense probably benign 0.00
R1510:Cyp2j13 UTSW 4 96061972 missense possibly damaging 0.48
R1708:Cyp2j13 UTSW 4 96062067 missense probably damaging 0.99
R2327:Cyp2j13 UTSW 4 96059107 missense possibly damaging 0.50
R3834:Cyp2j13 UTSW 4 96056557 critical splice donor site probably null
R4643:Cyp2j13 UTSW 4 96056924 missense possibly damaging 0.62
R4867:Cyp2j13 UTSW 4 96058998 missense possibly damaging 0.68
R4900:Cyp2j13 UTSW 4 96059043 missense probably damaging 1.00
R5175:Cyp2j13 UTSW 4 96068215 missense possibly damaging 0.55
R5291:Cyp2j13 UTSW 4 96068329 missense probably damaging 1.00
R5770:Cyp2j13 UTSW 4 96077432 missense probably benign 0.23
R5912:Cyp2j13 UTSW 4 96056842 missense probably damaging 1.00
R6283:Cyp2j13 UTSW 4 96056837 missense possibly damaging 0.89
R6362:Cyp2j13 UTSW 4 96071695 missense probably damaging 0.97
R6627:Cyp2j13 UTSW 4 96059106 missense probably damaging 0.96
R7001:Cyp2j13 UTSW 4 96056875 missense probably damaging 1.00
R7356:Cyp2j13 UTSW 4 96077418 missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- TGTGCCTGTTGGATAAATAAGGC -3'
(R):5'- CTGAAGTGAATCTGAGTTAAGTAGC -3'

Sequencing Primer
(F):5'- GAGGAAATATACGGCGATT -3'
(R):5'- ACACAGAGATACGAGCCT -3'
Posted On2016-12-20