Incidental Mutation 'IGL02960:Cyp2b13'
ID365298
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 #IGL02960
Quality Score
Status
Chromosome7
Chromosomal Location26061497-26096197 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26061676 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 53 (K53E)
Ref Sequence ENSEMBL: ENSMUSP00000005669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005669]
Predicted Effect probably benign
Transcript: ENSMUST00000005669
AA Change: K53E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000005669
Gene: ENSMUSG00000040583
AA Change: K53E

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,142,808 R14C probably benign Het
Adam29 A T 8: 55,872,666 L251* probably null Het
Atpaf2 T C 11: 60,405,824 E161G probably damaging Het
Brwd1 T C 16: 96,057,466 D381G probably damaging Het
Cept1 T A 3: 106,539,396 R45* probably null Het
Col3a1 A G 1: 45,328,455 E273G unknown Het
Cuzd1 T C 7: 131,320,103 N57D probably benign Het
Fadd T C 7: 144,580,539 E203G probably benign Het
Gm14548 T C 7: 3,897,079 T175A possibly damaging Het
Gm3159 G A 14: 4,400,552 probably null Het
Gpr137c T C 14: 45,246,433 F206L possibly damaging Het
Hephl1 G T 9: 15,084,319 T471N probably damaging Het
Ido1 A T 8: 24,593,329 probably benign Het
Krt40 C T 11: 99,539,867 probably null Het
Lrp2 T A 2: 69,455,453 probably benign Het
Lrrc8a T A 2: 30,257,013 L613H probably damaging Het
Mettl14 A G 3: 123,374,885 Y169H probably damaging Het
Nlrp4a A G 7: 26,449,730 Q254R probably benign Het
Olfr1211 A C 2: 88,929,784 M177R possibly damaging Het
Olfr1356 A T 10: 78,847,537 I126N probably damaging Het
Pkhd1 A T 1: 20,377,446 M2241K possibly damaging Het
Ptprd G A 4: 76,128,868 S387L probably damaging Het
Ryr1 A C 7: 29,060,053 L3264R probably damaging Het
Serpina16 G A 12: 103,675,379 T29I probably benign Het
Slc9a7 A G X: 20,186,143 M237T probably benign Het
Tbck A G 3: 132,722,783 T300A probably benign Het
Tcaf1 A C 6: 42,686,459 D162E probably benign Het
Unc80 G A 1: 66,678,058 probably benign Het
Usp17le A C 7: 104,768,740 H398Q probably benign Het
Utp15 G A 13: 98,252,881 T303M probably benign Het
Vmn2r86 A C 10: 130,453,767 D86E possibly damaging Het
Zmym2 T A 14: 56,938,413 C822S probably benign Het
Zp3r T C 1: 130,583,438 D336G possibly damaging Het
Zpr1 A G 9: 46,273,551 H82R probably damaging Het
Other mutations in Cyp2b13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Cyp2b13 APN 7 26081727 missense probably benign 0.26
IGL01134:Cyp2b13 APN 7 26081700 missense probably damaging 1.00
IGL02386:Cyp2b13 APN 7 26086013 missense probably damaging 1.00
IGL02531:Cyp2b13 APN 7 26061605 missense possibly damaging 0.55
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
R7940:Cyp2b13 UTSW 7 26088728 missense possibly damaging 0.94
Posted On2015-12-18