Incidental Mutation 'R9359:Cyp2j13'
ID 708570
Institutional Source Beutler Lab
Gene Symbol Cyp2j13
Ensembl Gene ENSMUSG00000028571
Gene Name cytochrome P450, family 2, subfamily j, polypeptide 13
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R9359 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 95930897-95965803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95950170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 277 (D277G)
Ref Sequence ENSEMBL: ENSMUSP00000030305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030305] [ENSMUST00000097973] [ENSMUST00000107078]
AlphaFold Q3UNV4
Predicted Effect probably damaging
Transcript: ENSMUST00000030305
AA Change: D277G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030305
Gene: ENSMUSG00000028571
AA Change: D277G

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: D277G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095587
Gene: ENSMUSG00000028571
AA Change: D277G

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 benign
Transcript: ENSMUST00000107078
SMART Domains Protein: ENSMUSP00000102693
Gene: ENSMUSG00000028571

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
SMART Domains Protein: ENSMUSP00000121962
Gene: ENSMUSG00000028571
AA Change: D32G

DomainStartEndE-ValueType
Pfam:p450 1 156 2.1e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,780,892 (GRCm39) T380M probably damaging Het
Ankrd50 A T 3: 38,537,172 (GRCm39) N60K probably damaging Het
Atp6v0a4 G A 6: 38,059,048 (GRCm39) T245I probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Def8 A T 8: 124,185,105 (GRCm39) I310F probably benign Het
Dmtf1 A G 5: 9,171,927 (GRCm39) L503S possibly damaging Het
Dock1 T C 7: 134,770,125 (GRCm39) V1795A probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gabbr1 A G 17: 37,381,605 (GRCm39) T790A probably damaging Het
Glg1 C T 8: 111,914,425 (GRCm39) R453Q probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpld1 G A 13: 25,163,712 (GRCm39) V502I probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Inhba A G 13: 16,191,966 (GRCm39) H29R probably benign Het
Insr G C 8: 3,208,717 (GRCm39) P1248R probably damaging Het
Ipcef1 C T 10: 6,840,663 (GRCm39) D349N probably damaging Het
Itga4 T A 2: 79,156,004 (GRCm39) I990N possibly damaging Het
Malrd1 T C 2: 15,618,988 (GRCm39) V284A Het
Maml2 C T 9: 13,532,969 (GRCm39) Q728* probably null Het
Mex3d A T 10: 80,217,581 (GRCm39) N545K Het
Mios T A 6: 8,214,894 (GRCm39) V30E probably benign Het
Muc16 A G 9: 18,449,060 (GRCm39) probably null Het
Naxd A G 8: 11,562,968 (GRCm39) K303E possibly damaging Het
Or2w1 T C 13: 21,317,865 (GRCm39) F307L probably benign Het
Or4l1 T C 14: 50,166,906 (GRCm39) T32A probably benign Het
Or5a21 T A 19: 12,310,803 (GRCm39) H139L possibly damaging Het
Or9q2 C T 19: 13,772,200 (GRCm39) M258I probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Ptgdr A G 14: 45,090,715 (GRCm39) S348P Het
Ptpdc1 T A 13: 48,740,030 (GRCm39) E467V probably benign Het
Qsox1 A G 1: 155,658,343 (GRCm39) S409P probably damaging Het
Rfx4 A G 10: 84,740,921 (GRCm39) T680A probably benign Het
Slc30a5 T C 13: 100,949,970 (GRCm39) T371A probably damaging Het
Slc5a7 A T 17: 54,583,669 (GRCm39) N540K probably benign Het
Slco6c1 A T 1: 96,990,248 (GRCm39) S664R possibly damaging Het
Tbxa2r A G 10: 81,168,958 (GRCm39) S216G probably damaging Het
Tgm4 C A 9: 122,881,837 (GRCm39) S344R probably damaging Het
Thoc6 A G 17: 23,887,823 (GRCm39) V328A possibly damaging Het
Trim61 T A 8: 65,467,228 (GRCm39) Q11L probably damaging Het
Txndc2 G A 17: 65,944,992 (GRCm39) T395I probably damaging Het
Txndc9 T C 1: 38,034,859 (GRCm39) E15G probably benign Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Uspl1 G A 5: 149,146,481 (GRCm39) V411M probably damaging Het
Vcpip1 A G 1: 9,816,049 (GRCm39) I778T possibly damaging Het
Vps54 A G 11: 21,242,108 (GRCm39) T408A probably benign Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P possibly damaging Het
Other mutations in Cyp2j13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Cyp2j13 APN 4 95,950,275 (GRCm39) missense probably damaging 1.00
IGL01511:Cyp2j13 APN 4 95,965,552 (GRCm39) missense possibly damaging 0.79
IGL01540:Cyp2j13 APN 4 95,956,959 (GRCm39) splice site probably benign
IGL01923:Cyp2j13 APN 4 95,950,294 (GRCm39) missense probably benign 0.00
IGL03124:Cyp2j13 APN 4 95,950,159 (GRCm39) missense possibly damaging 0.78
IGL03389:Cyp2j13 APN 4 95,956,558 (GRCm39) missense probably damaging 1.00
R0671:Cyp2j13 UTSW 4 95,959,932 (GRCm39) missense probably damaging 0.97
R1351:Cyp2j13 UTSW 4 95,945,155 (GRCm39) missense probably benign 0.00
R1510:Cyp2j13 UTSW 4 95,950,209 (GRCm39) missense possibly damaging 0.48
R1708:Cyp2j13 UTSW 4 95,950,304 (GRCm39) missense probably damaging 0.99
R2327:Cyp2j13 UTSW 4 95,947,344 (GRCm39) missense possibly damaging 0.50
R3834:Cyp2j13 UTSW 4 95,944,794 (GRCm39) critical splice donor site probably null
R4643:Cyp2j13 UTSW 4 95,945,161 (GRCm39) missense possibly damaging 0.62
R4867:Cyp2j13 UTSW 4 95,947,235 (GRCm39) missense possibly damaging 0.68
R4900:Cyp2j13 UTSW 4 95,947,280 (GRCm39) missense probably damaging 1.00
R5175:Cyp2j13 UTSW 4 95,956,452 (GRCm39) missense possibly damaging 0.55
R5291:Cyp2j13 UTSW 4 95,956,566 (GRCm39) missense probably damaging 1.00
R5770:Cyp2j13 UTSW 4 95,965,669 (GRCm39) missense probably benign 0.23
R5837:Cyp2j13 UTSW 4 95,959,919 (GRCm39) missense probably damaging 0.98
R5912:Cyp2j13 UTSW 4 95,945,079 (GRCm39) missense probably damaging 1.00
R6283:Cyp2j13 UTSW 4 95,945,074 (GRCm39) missense possibly damaging 0.89
R6362:Cyp2j13 UTSW 4 95,959,932 (GRCm39) missense probably damaging 0.97
R6627:Cyp2j13 UTSW 4 95,947,343 (GRCm39) missense probably damaging 0.96
R7001:Cyp2j13 UTSW 4 95,945,112 (GRCm39) missense probably damaging 1.00
R7356:Cyp2j13 UTSW 4 95,965,655 (GRCm39) missense probably benign 0.23
R7620:Cyp2j13 UTSW 4 95,944,899 (GRCm39) missense probably benign 0.25
R8717:Cyp2j13 UTSW 4 95,933,777 (GRCm39) missense probably benign 0.06
R8810:Cyp2j13 UTSW 4 95,945,153 (GRCm39) missense probably benign 0.30
R8850:Cyp2j13 UTSW 4 95,956,428 (GRCm39) missense probably benign 0.09
R8981:Cyp2j13 UTSW 4 95,965,527 (GRCm39) missense possibly damaging 0.87
R9595:Cyp2j13 UTSW 4 95,933,797 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTTTCGAAGTAGCTTGCCTGG -3'
(R):5'- CAGAGGCAAAGTCAAGACTGTC -3'

Sequencing Primer
(F):5'- AAGTAGCTTGCCTGGCAGAC -3'
(R):5'- AGAAAGTGAGTTTATGATTGCCTTC -3'
Posted On 2022-04-18