Incidental Mutation 'IGL00980:Cyp2b13'
ID306646
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 #IGL00980
Quality Score
Status
Chromosome7
Chromosomal Location26061497-26096197 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 26081727 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 188 (F188Y)
Ref Sequence ENSEMBL: ENSMUSP00000005669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005669]
Predicted Effect probably benign
Transcript: ENSMUST00000005669
AA Change: F188Y

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000005669
Gene: ENSMUSG00000040583
AA Change: F188Y

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 37,000,041 T3103I probably damaging Het
Adam2 A T 14: 66,056,528 Y283* probably null Het
Bend3 C A 10: 43,511,566 Q652K probably damaging Het
Ccdc136 G A 6: 29,420,258 S992N probably damaging Het
Cct6a T C 5: 129,791,793 probably benign Het
Cd74 A T 18: 60,811,326 I203F probably benign Het
Cd8b1 C A 6: 71,332,479 C182* probably null Het
Cmtr1 T A 17: 29,691,284 D454E probably benign Het
Dppa2 T C 16: 48,311,686 S49P possibly damaging Het
Fhl5 G T 4: 25,207,181 L196I possibly damaging Het
Gimap4 T A 6: 48,690,938 V81D probably damaging Het
Gm4884 T G 7: 41,043,726 M373R probably damaging Het
Gnrhr C T 5: 86,197,303 probably null Het
H2-Oa T G 17: 34,094,563 L196R probably damaging Het
Icosl T C 10: 78,071,971 S122P probably damaging Het
Itpr3 A G 17: 27,110,956 T1575A probably benign Het
Krt80 T C 15: 101,349,998 K373E possibly damaging Het
Lamp1 G A 8: 13,171,195 probably benign Het
Npvf T C 6: 50,650,885 K185E probably damaging Het
Nuf2 A G 1: 169,510,434 M258T probably damaging Het
Olfr1416 T C 1: 92,479,680 probably null Het
Olfr883 G A 9: 38,025,811 V2I probably benign Het
Smurf2 A C 11: 106,836,095 I469S probably damaging Het
Soat1 T A 1: 156,441,341 H180L probably benign Het
Spink5 G T 18: 44,007,710 D659Y probably damaging Het
Sprtn T C 8: 124,900,298 M139T probably damaging Het
Tas2r137 T C 6: 40,491,418 S61P possibly damaging Het
Tec G A 5: 72,786,798 L89F probably damaging Het
Trav21-dv12 A T 14: 53,876,650 M76L probably benign Het
Ttc7 A C 17: 87,321,446 T271P possibly damaging Het
Tyk2 G A 9: 21,120,588 T397I probably benign Het
Ugt1a6b T A 1: 88,107,605 Y222N possibly damaging Het
Vmn2r2 A T 3: 64,117,180 M660K probably benign Het
Vmn2r52 T A 7: 10,171,090 Y274F probably damaging Het
Wscd1 A C 11: 71,788,942 N547T possibly damaging Het
Zfp335 C A 2: 164,902,674 E394* probably null Het
Other mutations in Cyp2b13
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2015-04-16