Incidental Mutation 'R2885:Cyp4b1'
ID 261003
Institutional Source Beutler Lab
Gene Symbol Cyp4b1
Ensembl Gene ENSMUSG00000028713
Gene Name cytochrome P450, family 4, subfamily b, polypeptide 1
Synonyms
MMRRC Submission 040473-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2885 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 115481922-115504920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115492849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 287 (D287N)
Ref Sequence ENSEMBL: ENSMUSP00000099768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102707]
AlphaFold Q64462
Predicted Effect probably damaging
Transcript: ENSMUST00000102707
AA Change: D287N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: D287N

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 46 501 1.3e-130 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000135569
AA Change: D163N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143237
Predicted Effect unknown
Transcript: ENSMUST00000145841
AA Change: D211N
SMART Domains Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713
AA Change: D211N

DomainStartEndE-ValueType
Pfam:p450 1 375 3.5e-101 PFAM
Meta Mutation Damage Score 0.6115 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 A G 7: 80,749,940 (GRCm39) S1453G probably damaging Het
Arhgap27 T C 11: 103,251,669 (GRCm39) probably null Het
Casp1 A T 9: 5,299,851 (GRCm39) H108L probably benign Het
Cerk A G 15: 86,027,084 (GRCm39) F142S probably damaging Het
Cmip A G 8: 118,111,704 (GRCm39) N145S probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dlx2 G A 2: 71,375,808 (GRCm39) R172* probably null Het
Dnah11 G A 12: 117,951,162 (GRCm39) Q1145* probably null Het
Dock2 A T 11: 34,580,593 (GRCm39) I659N probably damaging Het
Dync2h1 G C 9: 7,102,329 (GRCm39) F2690L probably damaging Het
Fcrl5 A G 3: 87,364,698 (GRCm39) Y566C probably damaging Het
Ift57 T C 16: 49,584,114 (GRCm39) V289A probably damaging Het
Lrrc46 G A 11: 96,925,806 (GRCm39) R219C probably damaging Het
Mapk1 A G 16: 16,844,309 (GRCm39) N269S probably benign Het
Mrgprb1 A T 7: 48,097,469 (GRCm39) Y148N probably damaging Het
Mzt2 G T 16: 15,680,780 (GRCm39) A3E unknown Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Obscn A T 11: 58,977,574 (GRCm39) V1959E probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Phf12 T C 11: 77,914,595 (GRCm39) I130T possibly damaging Het
Plekhg3 T C 12: 76,611,735 (GRCm39) V338A probably benign Het
Prl3b1 A T 13: 27,433,505 (GRCm39) N220I probably damaging Het
Rusc2 A G 4: 43,415,456 (GRCm39) Q254R probably benign Het
Ryr1 G T 7: 28,774,223 (GRCm39) R2404S probably damaging Het
Setdb1 A G 3: 95,247,506 (GRCm39) I463T probably benign Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Siglec1 A G 2: 130,914,667 (GRCm39) F1483S possibly damaging Het
Sis G A 3: 72,816,506 (GRCm39) P1515S probably benign Het
Sit1 C T 4: 43,483,314 (GRCm39) R50H possibly damaging Het
Smc6 T C 12: 11,326,294 (GRCm39) V97A probably damaging Het
Ttc39d A G 17: 80,524,144 (GRCm39) S268G probably benign Het
Ube2frt A G 12: 36,140,574 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r60 T A 7: 41,790,403 (GRCm39) D463E possibly damaging Het
Vmn2r91 A T 17: 18,325,628 (GRCm39) Y82F probably benign Het
Zfp709 A T 8: 72,643,549 (GRCm39) D325V probably benign Het
Znrf3 A T 11: 5,239,693 (GRCm39) D58E 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
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
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'- CATGTGATCCAGACTGCCAG -3'
(R):5'- TCATTCCTCCACTCCAGGTAGG -3'

Sequencing Primer
(F):5'- GATCCAGACTGCCAGTTCCCTAATG -3'
(R):5'- CCAGGTAGGAAGCCTTTGTTATTCC -3'
Posted On 2015-01-23