Incidental Mutation 'IGL00981:Cyp2b19'
ID 27948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2b19
Ensembl Gene ENSMUSG00000066704
Gene Name cytochrome P450, family 2, subfamily b, polypeptide 19
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL00981
Quality Score
Status
Chromosome 7
Chromosomal Location 26456567-26472055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26462886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 256 (T256I)
Ref Sequence ENSEMBL: ENSMUSP00000077021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077855]
AlphaFold O55071
Predicted Effect possibly damaging
Transcript: ENSMUST00000077855
AA Change: T256I

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: T256I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:p450 32 489 8.7e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138018
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,586,404 (GRCm39) Q478* probably null Het
Armh4 A T 14: 50,010,447 (GRCm39) L420Q probably damaging Het
Atp7b T C 8: 22,517,543 (GRCm39) probably null Het
Bcan T A 3: 87,905,139 (GRCm39) I2F possibly damaging Het
Boc A G 16: 44,312,164 (GRCm39) S633P probably damaging Het
C2cd6 A G 1: 59,117,104 (GRCm39) S130P probably damaging Het
Cacna1a T C 8: 85,275,182 (GRCm39) F490L probably damaging Het
Carm1 T A 9: 21,498,490 (GRCm39) D469E possibly damaging Het
Cdyl A T 13: 36,000,096 (GRCm39) S126C probably damaging Het
Ceacam5 A T 7: 17,479,458 (GRCm39) I192F probably benign Het
Dlgap5 C T 14: 47,635,925 (GRCm39) E515K probably damaging Het
Eif3a A T 19: 60,755,049 (GRCm39) D1044E unknown Het
Eif3i T A 4: 129,488,862 (GRCm39) Y125F probably benign Het
Gnai1 T G 5: 18,472,045 (GRCm39) N346T probably benign Het
Kcnd1 C T X: 7,702,672 (GRCm39) T629I probably benign Het
Mcc A T 18: 44,582,416 (GRCm39) N578K probably damaging Het
Ncoa6 C T 2: 155,248,099 (GRCm39) R1735Q probably damaging Het
Nlrp4d A T 7: 10,116,021 (GRCm39) noncoding transcript Het
Nsun5 A T 5: 135,404,249 (GRCm39) Q352L possibly damaging Het
Or14j6 G A 17: 38,215,072 (GRCm39) V212M probably benign Het
Or2d2b C A 7: 106,705,268 (GRCm39) E267* probably null Het
Or2d2b T A 7: 106,705,269 (GRCm39) K266N probably benign Het
Or8g18 A G 9: 39,148,901 (GRCm39) V276A probably benign Het
Pkdrej C T 15: 85,703,857 (GRCm39) G693D probably damaging Het
Rpl10a-ps2 A T 13: 8,990,566 (GRCm39) probably benign Het
Spink1 C T 18: 43,870,159 (GRCm39) probably null Het
Sqle T C 15: 59,198,468 (GRCm39) V464A probably damaging Het
Trav6-4 A T 14: 53,692,153 (GRCm39) T84S probably damaging Het
Trim33 T A 3: 103,259,311 (GRCm39) probably benign Het
Txlng T C X: 161,567,368 (GRCm39) M319V probably benign Het
Wee1 A T 7: 109,738,876 (GRCm39) E582D probably damaging Het
Other mutations in Cyp2b19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Cyp2b19 APN 7 26,458,842 (GRCm39) missense probably benign 0.09
IGL01374:Cyp2b19 APN 7 26,458,504 (GRCm39) missense probably benign 0.06
IGL01613:Cyp2b19 APN 7 26,462,886 (GRCm39) missense possibly damaging 0.91
IGL01695:Cyp2b19 APN 7 26,458,489 (GRCm39) missense probably damaging 1.00
IGL02322:Cyp2b19 APN 7 26,461,803 (GRCm39) missense possibly damaging 0.79
IGL03077:Cyp2b19 APN 7 26,461,809 (GRCm39) missense probably benign
R0047:Cyp2b19 UTSW 7 26,466,251 (GRCm39) missense probably benign 0.01
R0047:Cyp2b19 UTSW 7 26,466,251 (GRCm39) missense probably benign 0.01
R0452:Cyp2b19 UTSW 7 26,466,187 (GRCm39) missense probably benign 0.01
R0865:Cyp2b19 UTSW 7 26,461,654 (GRCm39) splice site probably benign
R1514:Cyp2b19 UTSW 7 26,466,585 (GRCm39) missense probably benign 0.00
R1681:Cyp2b19 UTSW 7 26,462,765 (GRCm39) splice site probably null
R2362:Cyp2b19 UTSW 7 26,463,802 (GRCm39) missense probably damaging 1.00
R4015:Cyp2b19 UTSW 7 26,461,768 (GRCm39) missense probably damaging 1.00
R4259:Cyp2b19 UTSW 7 26,462,807 (GRCm39) missense probably damaging 1.00
R4592:Cyp2b19 UTSW 7 26,470,819 (GRCm39) missense probably benign 0.04
R4705:Cyp2b19 UTSW 7 26,456,717 (GRCm39) missense probably benign 0.03
R4789:Cyp2b19 UTSW 7 26,463,801 (GRCm39) missense probably benign 0.16
R5481:Cyp2b19 UTSW 7 26,466,246 (GRCm39) missense probably damaging 0.99
R5749:Cyp2b19 UTSW 7 26,462,844 (GRCm39) missense possibly damaging 0.84
R6041:Cyp2b19 UTSW 7 26,458,852 (GRCm39) missense probably damaging 1.00
R6170:Cyp2b19 UTSW 7 26,458,519 (GRCm39) missense possibly damaging 0.80
R6259:Cyp2b19 UTSW 7 26,470,817 (GRCm39) missense possibly damaging 0.91
R6370:Cyp2b19 UTSW 7 26,462,783 (GRCm39) missense probably benign 0.07
R6519:Cyp2b19 UTSW 7 26,458,536 (GRCm39) missense probably benign
R6656:Cyp2b19 UTSW 7 26,466,280 (GRCm39) missense probably benign
R7283:Cyp2b19 UTSW 7 26,466,339 (GRCm39) missense probably damaging 1.00
R7583:Cyp2b19 UTSW 7 26,458,489 (GRCm39) missense probably damaging 1.00
R7686:Cyp2b19 UTSW 7 26,461,768 (GRCm39) missense probably damaging 1.00
R7732:Cyp2b19 UTSW 7 26,470,769 (GRCm39) missense possibly damaging 0.67
R7831:Cyp2b19 UTSW 7 26,466,565 (GRCm39) missense possibly damaging 0.80
R8035:Cyp2b19 UTSW 7 26,470,675 (GRCm39) missense probably damaging 1.00
R8853:Cyp2b19 UTSW 7 26,456,645 (GRCm39) missense possibly damaging 0.53
R9574:Cyp2b19 UTSW 7 26,466,353 (GRCm39) missense probably null 1.00
R9574:Cyp2b19 UTSW 7 26,466,352 (GRCm39) missense probably damaging 1.00
R9650:Cyp2b19 UTSW 7 26,466,208 (GRCm39) missense possibly damaging 0.85
R9681:Cyp2b19 UTSW 7 26,466,328 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17