Incidental Mutation 'R0970:Cyp4b1'
ID 84010
Institutional Source Beutler Lab
Gene Symbol Cyp4b1
Ensembl Gene ENSMUSG00000028713
Gene Name cytochrome P450, family 4, subfamily b, polypeptide 1
Synonyms
MMRRC Submission 039099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0970 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 115481922-115504920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115492833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 292 (A292V)
Ref Sequence ENSEMBL: ENSMUSP00000099768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102707]
AlphaFold Q64462
Predicted Effect probably benign
Transcript: ENSMUST00000102707
AA Change: A292V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: A292V

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 46 501 1.3e-130 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000135569
AA Change: A168V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143237
Predicted Effect unknown
Transcript: ENSMUST00000145841
AA Change: A216V
SMART Domains Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713
AA Change: A216V

DomainStartEndE-ValueType
Pfam:p450 1 375 3.5e-101 PFAM
Meta Mutation Damage Score 0.2726 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (40/41)
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
A3galt2 T C 4: 128,661,364 (GRCm39) S307P probably damaging Het
Amdhd2 C T 17: 24,375,544 (GRCm39) probably null Het
Ano1 A T 7: 144,149,308 (GRCm39) M851K probably benign Het
Arid3b A T 9: 57,740,834 (GRCm39) probably benign Het
Arpp21 A G 9: 111,965,516 (GRCm39) probably benign Het
Atxn7l3 C G 11: 102,183,261 (GRCm39) probably benign Het
C87436 G A 6: 86,424,310 (GRCm39) V281M probably damaging Het
Cep70 A G 9: 99,157,652 (GRCm39) K184E possibly damaging Het
Clcn7 T C 17: 25,370,208 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col4a2 A G 8: 11,465,438 (GRCm39) T383A probably benign Het
Commd5 A T 15: 76,784,885 (GRCm39) probably null Het
Dthd1 T C 5: 63,045,324 (GRCm39) L696P probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Eepd1 A G 9: 25,514,722 (GRCm39) R510G probably damaging Het
Eno3 T C 11: 70,551,628 (GRCm39) I196T probably damaging Het
Eva1a A G 6: 82,069,084 (GRCm39) E137G probably damaging Het
Gapvd1 T A 2: 34,620,625 (GRCm39) probably null Het
Ggnbp2 T C 11: 84,753,138 (GRCm39) M34V possibly damaging Het
Gpihbp1 G A 15: 75,469,795 (GRCm39) S170N probably benign Het
Kdm3b T C 18: 34,942,092 (GRCm39) S528P probably damaging Het
Lrrk2 A T 15: 91,613,372 (GRCm39) Q832L probably benign Het
Nav2 C A 7: 49,233,901 (GRCm39) P1861Q probably damaging Het
Or52n5 A C 7: 104,588,284 (GRCm39) M184L probably benign Het
Piezo1 A T 8: 123,213,549 (GRCm39) I1782N possibly damaging Het
Pikfyve T A 1: 65,304,983 (GRCm39) S1757T probably damaging Het
Plxnb1 G T 9: 108,932,331 (GRCm39) W523C probably damaging Het
Pmm2 G T 16: 8,460,640 (GRCm39) L31F probably damaging Het
Ppm1f T C 16: 16,721,457 (GRCm39) probably null Het
Prss16 T C 13: 22,189,287 (GRCm39) Y34C probably damaging Het
Slc10a2 C G 8: 5,155,115 (GRCm39) E23D probably benign Het
Smc5 T A 19: 23,216,362 (GRCm39) I489F probably damaging Het
Snx2 T C 18: 53,343,762 (GRCm39) probably benign Het
Stradb C T 1: 59,016,219 (GRCm39) L3F possibly damaging Het
Tnxb C G 17: 34,917,917 (GRCm39) P2277A possibly damaging Het
Tpm2 T A 4: 43,515,968 (GRCm39) I270F probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Urb1 A T 16: 90,566,335 (GRCm39) L1484Q possibly damaging Het
Xylt1 G A 7: 117,233,963 (GRCm39) V497I probably 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
IGL03111:Cyp4b1 APN 4 115,493,066 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CAGTTCCCTAATGTCACAGCCCAG -3'
(R):5'- TGCCAGATAGCCCATGACCATACAG -3'

Sequencing Primer
(F):5'- AGCCACACACATGCTGC -3'
(R):5'- ACTCCAGGTAGGAAGCCTTTG -3'
Posted On 2013-11-08