Incidental Mutation 'IGL01134:Cyp2b13'
ID51627
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2b13
Ensembl Gene ENSMUSG00000040583
Gene Namecytochrome P450, family 2, subfamily b, polypeptide 13
Synonymsphenobarbital inducible, type c
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01134
Quality Score
Status
Chromosome7
Chromosomal Location26061497-26096197 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 26081700 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 179 (I179N)
Ref Sequence ENSEMBL: ENSMUSP00000005669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005669]
Predicted Effect probably damaging
Transcript: ENSMUST00000005669
AA Change: I179N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005669
Gene: ENSMUSG00000040583
AA Change: I179N

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:p450 31 488 9.8e-150 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Acaca T G 11: 84,251,279 H637Q probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap6 C A 12: 52,937,217 A848E probably damaging Het
Cxxc4 A G 3: 134,240,659 I334V probably null Het
Cyp2d40 C A 15: 82,760,901 A183S unknown Het
Cyp2g1 A G 7: 26,809,831 N110S probably benign Het
F5 A T 1: 164,191,979 R674S possibly damaging Het
Fnip2 G T 3: 79,512,503 Y155* probably null Het
Fut9 G T 4: 25,620,446 Q123K probably benign Het
Gda A G 19: 21,417,065 S143P probably damaging Het
Gpr162 T C 6: 124,858,857 probably null Het
Hsf2bp A G 17: 31,987,404 L251S probably damaging Het
Hsh2d A T 8: 72,193,531 D24V probably damaging Het
Htr1f T A 16: 64,926,138 T264S probably benign Het
Med12l G A 3: 59,042,275 E151K possibly damaging Het
Mgat3 C A 15: 80,212,176 N401K probably benign Het
Mmp27 T G 9: 7,573,297 M130R probably benign Het
Mroh2b T A 15: 4,915,152 S412T probably benign Het
Mrps9 A G 1: 42,903,397 I338M probably damaging Het
Mtmr4 C T 11: 87,604,067 T395M probably damaging Het
Nlrp9b A G 7: 20,023,187 I116M probably benign Het
Nqo1 T C 8: 107,388,955 D230G probably benign Het
Pcnx2 C T 8: 125,863,150 V795I probably benign Het
Pde8a G A 7: 81,319,078 R449Q possibly damaging Het
Scn9a A G 2: 66,504,968 Y1226H probably damaging Het
Sema3e A G 5: 14,252,770 R770G probably damaging Het
Smr2 T C 5: 88,108,519 S19P probably damaging Het
Trank1 T C 9: 111,391,781 S2529P probably benign Het
Uspl1 T A 5: 149,204,293 F367L probably damaging Het
Vps41 A G 13: 18,866,150 S838G probably benign Het
Ythdf2 A T 4: 132,205,478 F124I probably damaging Het
Other mutations in Cyp2b13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Cyp2b13 APN 7 26081727 missense probably benign 0.26
IGL02386:Cyp2b13 APN 7 26086013 missense probably damaging 1.00
IGL02531:Cyp2b13 APN 7 26061605 missense possibly damaging 0.55
IGL02960:Cyp2b13 APN 7 26061676 missense probably benign 0.33
R0018:Cyp2b13 UTSW 7 26085950 missense probably benign 0.30
R0018:Cyp2b13 UTSW 7 26085950 missense probably benign 0.30
R0103:Cyp2b13 UTSW 7 26088710 missense probably damaging 1.00
R0121:Cyp2b13 UTSW 7 26086585 missense probably benign
R0392:Cyp2b13 UTSW 7 26085883 missense probably benign 0.01
R0540:Cyp2b13 UTSW 7 26081711 missense probably benign 0.07
R1887:Cyp2b13 UTSW 7 26088650 missense probably damaging 1.00
R2416:Cyp2b13 UTSW 7 26095821 makesense probably null
R2879:Cyp2b13 UTSW 7 26086031 critical splice donor site probably null
R4654:Cyp2b13 UTSW 7 26061647 missense probably damaging 1.00
R4735:Cyp2b13 UTSW 7 26088295 missense probably benign
R4969:Cyp2b13 UTSW 7 26080988 missense probably damaging 0.98
R5174:Cyp2b13 UTSW 7 26088693 missense possibly damaging 0.68
R6243:Cyp2b13 UTSW 7 26061619 missense probably damaging 1.00
R6616:Cyp2b13 UTSW 7 26085881 missense probably benign 0.04
R6647:Cyp2b13 UTSW 7 26085899 missense possibly damaging 0.52
R6766:Cyp2b13 UTSW 7 26081811 critical splice donor site probably null
R6844:Cyp2b13 UTSW 7 26081697 missense probably damaging 1.00
R7431:Cyp2b13 UTSW 7 26061551 missense probably damaging 0.96
R7593:Cyp2b13 UTSW 7 26080991 missense possibly damaging 0.64
R7719:Cyp2b13 UTSW 7 26095670 missense probably damaging 1.00
R7857:Cyp2b13 UTSW 7 26088728 missense possibly damaging 0.94
Posted On2013-06-21