Incidental Mutation 'IGL01511:Cyp2j13'
ID 89231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2j13
Ensembl Gene ENSMUSG00000028571
Gene Name cytochrome P450, family 2, subfamily j, polypeptide 13
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01511
Quality Score
Status
Chromosome 4
Chromosomal Location 96027534-96077546 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96077315 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 52 (F52L)
Ref Sequence ENSEMBL: ENSMUSP00000102693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030305] [ENSMUST00000097973] [ENSMUST00000107078]
AlphaFold Q3UNV4
Predicted Effect possibly damaging
Transcript: ENSMUST00000030305
AA Change: F52L

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030305
Gene: ENSMUSG00000028571
AA Change: F52L

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 44 499 6.7e-131 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097973
AA Change: F52L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095587
Gene: ENSMUSG00000028571
AA Change: F52L

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 possibly damaging
Transcript: ENSMUST00000107078
AA Change: F52L

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102693
Gene: ENSMUSG00000028571
AA Change: F52L

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,244,310 D216E probably benign Het
Abcc4 C A 14: 118,599,341 L669F probably benign Het
Adam29 C T 8: 55,871,421 G666D probably damaging Het
Adat2 T G 10: 13,560,238 M109R probably null Het
Atf3 T A 1: 191,171,496 T178S probably benign Het
Birc6 T A 17: 74,627,003 Y2522* probably null Het
Ccr8 G A 9: 120,094,625 G269R probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chrna4 C T 2: 181,028,668 V432I probably benign Het
Commd8 A G 5: 72,165,379 V65A probably benign Het
Desi1 T A 15: 82,002,588 K45* probably null Het
Dmbt1 T A 7: 131,116,728 M1552K possibly damaging Het
Dna2 G A 10: 62,955,314 M197I possibly damaging Het
Dnah7a A C 1: 53,419,595 L3795V probably damaging Het
Fam221b T C 4: 43,660,135 probably null Het
Fbxw18 A T 9: 109,688,821 S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 Y125C unknown Het
Gcsam T C 16: 45,615,952 Y11H probably damaging Het
Gucy2f G T X: 142,161,734 D410E probably damaging Het
Hdac3 C T 18: 37,952,595 A53T probably benign Het
Lamp2 A G X: 38,431,875 L244P probably damaging Het
Lrrk1 A T 7: 66,265,450 F1630Y possibly damaging Het
M1ap C A 6: 83,028,412 D434E probably benign Het
Mcmbp A G 7: 128,707,164 Y378H probably damaging Het
Mvb12a T A 8: 71,545,302 V120E probably damaging Het
Nbeal2 A C 9: 110,629,234 W2063G probably damaging Het
Neto1 A C 18: 86,395,908 H9P possibly damaging Het
Nmu C T 5: 76,340,821 V126M probably damaging Het
Odf2 T C 2: 29,914,309 probably benign Het
Olfr1387 A G 11: 49,460,216 E179G probably damaging Het
Pdzrn3 T C 6: 101,153,256 H533R possibly damaging Het
Pikfyve G T 1: 65,258,869 E1586* probably null Het
Plcb3 C A 19: 6,955,843 R970L probably damaging Het
Plxna3 A G X: 74,335,308 E686G probably damaging Het
Polrmt T A 10: 79,740,151 Y586F probably benign Het
Ppt1 T A 4: 122,854,425 F225I probably damaging Het
Prcc T G 3: 87,872,241 D162A probably damaging Het
Ripor1 T C 8: 105,619,930 probably benign Het
Rnaseh1 A G 12: 28,659,009 H263R probably damaging Het
Rnf19b T A 4: 129,080,418 S490R probably damaging Het
Slc15a2 T A 16: 36,784,726 T23S probably damaging Het
Slc17a2 T C 13: 23,819,138 probably null Het
Slc35f4 T C 14: 49,298,877 M434V probably benign Het
Slc52a3 C T 2: 152,004,644 T175I probably benign Het
Slc5a2 C T 7: 128,270,622 T409M probably benign Het
Tbc1d24 A G 17: 24,181,918 S108P probably benign Het
Thnsl2 T G 6: 71,139,793 Q125P probably benign Het
Ttc13 T C 8: 124,676,371 D672G probably damaging Het
Ttn G T 2: 76,753,745 H14013N possibly damaging Het
Unc5a T C 13: 55,004,816 F792L probably damaging Het
Vac14 T C 8: 110,712,798 V669A possibly damaging Het
Vmn1r13 A T 6: 57,210,329 M158L probably benign Het
Vmn1r220 A T 13: 23,184,214 V104D probably damaging Het
Wdr78 T C 4: 103,048,361 D741G possibly damaging Het
Zfp738 A T 13: 67,683,401 probably null Het
Zscan5b A C 7: 6,231,422 H149P probably benign Het
Other mutations in Cyp2j13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Cyp2j13 APN 4 96062038 missense probably damaging 1.00
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
R5837:Cyp2j13 UTSW 4 96071682 missense probably damaging 0.98
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
R7620:Cyp2j13 UTSW 4 96056662 missense probably benign 0.25
R8717:Cyp2j13 UTSW 4 96045540 missense probably benign 0.06
R8810:Cyp2j13 UTSW 4 96056916 missense probably benign 0.30
R8850:Cyp2j13 UTSW 4 96068191 missense probably benign 0.09
R8981:Cyp2j13 UTSW 4 96077290 missense possibly damaging 0.87
R9359:Cyp2j13 UTSW 4 96061933 missense probably damaging 1.00
R9595:Cyp2j13 UTSW 4 96045560 nonsense probably null
Posted On 2013-12-03