Incidental Mutation 'IGL03111:Cyp4b1'
ID 419213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4b1
Ensembl Gene ENSMUSG00000028713
Gene Name cytochrome P450, family 4, subfamily b, polypeptide 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03111
Quality Score
Status
Chromosome 4
Chromosomal Location 115481922-115504920 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 115493066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000102707]
AlphaFold Q64462
Predicted Effect probably benign
Transcript: ENSMUST00000102707
SMART Domains Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 46 501 1.3e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143237
Predicted Effect silent
Transcript: ENSMUST00000145841
SMART Domains Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713

DomainStartEndE-ValueType
Pfam:p450 1 375 3.5e-101 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to 4-ipomeanol activation and toxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,676,040 (GRCm39) D523G probably benign Het
Alkbh1 A C 12: 87,480,907 (GRCm39) H176Q probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arid4a G A 12: 71,086,740 (GRCm39) A193T probably damaging Het
Cdkal1 A G 13: 29,538,684 (GRCm39) S492P possibly damaging Het
Cep170b C T 12: 112,701,613 (GRCm39) T164I probably damaging Het
Chst1 T C 2: 92,443,692 (GRCm39) Y55H possibly damaging Het
Clybl C T 14: 122,639,395 (GRCm39) P320S probably damaging Het
Cpne9 T C 6: 113,277,571 (GRCm39) I430T possibly damaging Het
Cyc1 T G 15: 76,229,072 (GRCm39) S113A probably benign Het
Dpysl3 T C 18: 43,462,910 (GRCm39) D489G probably damaging Het
Epha3 T C 16: 63,473,809 (GRCm39) D15G probably damaging Het
Ephb4 C A 5: 137,370,767 (GRCm39) F933L probably benign Het
Fan1 A T 7: 63,999,816 (GRCm39) D856E possibly damaging Het
Gabra6 T A 11: 42,207,844 (GRCm39) D208V probably damaging Het
Kif3b T A 2: 153,171,988 (GRCm39) S719R probably benign Het
Ldhd A C 8: 112,353,797 (GRCm39) C439G probably damaging Het
Lipo3 C T 19: 33,559,637 (GRCm39) V78I probably damaging Het
Mterf2 A T 10: 84,955,786 (GRCm39) Y279* probably null Het
Myo9a G T 9: 59,734,526 (GRCm39) A703S probably benign Het
Ndst3 T A 3: 123,465,745 (GRCm39) T76S possibly damaging Het
Nlrp4f A T 13: 65,330,816 (GRCm39) L859Q probably damaging Het
Nlrp4g T A 9: 124,353,978 (GRCm38) noncoding transcript Het
Or1s2 T A 19: 13,758,343 (GRCm39) Y122* probably null Het
Or51g2 G A 7: 102,622,738 (GRCm39) R154C probably damaging Het
Or6c215 G A 10: 129,637,947 (GRCm39) T149I probably benign Het
Osgin1 A T 8: 120,169,788 (GRCm39) K113M probably damaging Het
Plcb4 T A 2: 135,818,202 (GRCm39) Y823N probably damaging Het
Prg4 T C 1: 150,327,653 (GRCm39) I856V probably benign Het
Pxdn T A 12: 30,032,755 (GRCm39) S180T probably damaging Het
Skint9 T A 4: 112,248,921 (GRCm39) N169I probably benign Het
Slc24a1 T C 9: 64,833,608 (GRCm39) T996A probably damaging Het
Tbc1d20 T C 2: 152,149,998 (GRCm39) Y91H probably damaging Het
Tbc1d9b A G 11: 50,049,369 (GRCm39) Y772C probably damaging Het
Thbd T A 2: 148,248,392 (GRCm39) E492V probably benign Het
Thra A G 11: 98,651,855 (GRCm39) probably benign Het
Tmem131 A G 1: 36,867,225 (GRCm39) S403P probably damaging Het
Zfp455 T C 13: 67,356,063 (GRCm39) S444P probably benign Het
Zfp946 A G 17: 22,673,537 (GRCm39) H97R possibly damaging Het
Other mutations in Cyp4b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01677:Cyp4b1 APN 4 115,493,479 (GRCm39) missense probably damaging 0.97
IGL02484:Cyp4b1 APN 4 115,504,754 (GRCm39) missense probably benign 0.00
IGL03340:Cyp4b1 APN 4 115,499,076 (GRCm39) missense probably damaging 1.00
R0026:Cyp4b1 UTSW 4 115,504,718 (GRCm39) missense possibly damaging 0.95
R0026:Cyp4b1 UTSW 4 115,504,718 (GRCm39) missense possibly damaging 0.95
R0143:Cyp4b1 UTSW 4 115,493,071 (GRCm39) missense probably damaging 0.99
R0532:Cyp4b1 UTSW 4 115,484,073 (GRCm39) missense probably damaging 1.00
R0725:Cyp4b1 UTSW 4 115,484,024 (GRCm39) missense probably damaging 1.00
R0970:Cyp4b1 UTSW 4 115,492,833 (GRCm39) missense probably benign 0.07
R1084:Cyp4b1 UTSW 4 115,497,509 (GRCm39) missense probably benign 0.00
R1570:Cyp4b1 UTSW 4 115,493,160 (GRCm39) missense probably benign 0.00
R1626:Cyp4b1 UTSW 4 115,498,855 (GRCm39) missense probably damaging 1.00
R1966:Cyp4b1 UTSW 4 115,483,076 (GRCm39) missense probably benign 0.13
R2279:Cyp4b1 UTSW 4 115,497,557 (GRCm39) missense probably benign 0.23
R2396:Cyp4b1 UTSW 4 115,498,843 (GRCm39) missense probably benign 0.43
R2679:Cyp4b1 UTSW 4 115,485,894 (GRCm39) missense probably benign 0.01
R2885:Cyp4b1 UTSW 4 115,492,849 (GRCm39) missense probably damaging 1.00
R3176:Cyp4b1 UTSW 4 115,483,047 (GRCm39) missense possibly damaging 0.87
R3276:Cyp4b1 UTSW 4 115,483,047 (GRCm39) missense possibly damaging 0.87
R4375:Cyp4b1 UTSW 4 115,493,510 (GRCm39) missense probably benign 0.35
R7221:Cyp4b1 UTSW 4 115,493,175 (GRCm39) missense possibly damaging 0.92
R7584:Cyp4b1 UTSW 4 115,485,884 (GRCm39) missense probably damaging 0.98
R7699:Cyp4b1 UTSW 4 115,499,162 (GRCm39) missense probably benign 0.06
R8867:Cyp4b1 UTSW 4 115,493,169 (GRCm39) missense possibly damaging 0.78
R9076:Cyp4b1 UTSW 4 115,482,424 (GRCm39) missense probably damaging 1.00
R9440:Cyp4b1 UTSW 4 115,493,581 (GRCm39) missense probably damaging 0.99
X0058:Cyp4b1 UTSW 4 115,485,975 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02