Incidental Mutation 'R3176:Cyp4b1'
ID 475984
Institutional Source Beutler Lab
Gene Symbol Cyp4b1
Ensembl Gene ENSMUSG00000028713
Gene Name cytochrome P450, family 4, subfamily b, polypeptide 1
MMRRC Submission 040614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3176 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 115481922-115504920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115483047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 415 (N415D)
Ref Sequence ENSEMBL: ENSMUSP00000099768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084342] [ENSMUST00000102707]
AlphaFold Q64462
Predicted Effect probably benign
Transcript: ENSMUST00000084342
SMART Domains Protein: ENSMUSP00000081369
Gene: ENSMUSG00000063929

transmembrane domain 15 32 N/A INTRINSIC
Pfam:p450 51 504 1.3e-133 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102707
AA Change: N415D

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: N415D

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 unknown
Transcript: ENSMUST00000145841
AA Change: N339D
SMART Domains Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713
AA Change: N339D

Pfam:p450 1 375 3.5e-101 PFAM
Meta Mutation Damage Score 0.2674 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (28/28)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,233,495 (GRCm39) R1269H probably damaging Het
Ace A G 11: 105,867,528 (GRCm39) E164G probably null Het
Als2 A T 1: 59,209,167 (GRCm39) V1464E possibly damaging Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Cdkn3 T C 14: 47,008,934 (GRCm39) probably benign Het
Ces2a A G 8: 105,466,010 (GRCm39) probably benign Het
Col16a1 A G 4: 129,951,792 (GRCm39) K72E probably damaging Het
Col6a5 G A 9: 105,788,306 (GRCm39) R1565* probably null Het
Col6a6 T C 9: 105,663,429 (GRCm39) H36R probably benign Het
Dcp1a A G 14: 30,227,499 (GRCm39) probably benign Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dhcr24 T C 4: 106,418,436 (GRCm39) F25L probably benign Het
Dhrs3 A G 4: 144,650,510 (GRCm39) T219A probably benign Het
Dhx58 A G 11: 100,587,805 (GRCm39) F584S probably damaging Het
Dmbt1 A G 7: 130,689,801 (GRCm39) T715A probably benign Het
Dtx3l A G 16: 35,752,543 (GRCm39) S688P probably benign Het
Eogt T A 6: 97,108,355 (GRCm39) I229F probably benign Het
Ern2 T C 7: 121,780,187 (GRCm39) T164A possibly damaging Het
Fam133b A T 5: 3,608,522 (GRCm39) N84I probably damaging Het
Fbxl21 T A 13: 56,684,935 (GRCm39) Y346* probably null Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hao2 T C 3: 98,787,644 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kcnt2 A G 1: 140,537,377 (GRCm39) N1119S probably benign Het
Kif15 T C 9: 122,816,905 (GRCm39) probably benign Het
Klhl32 T C 4: 24,682,063 (GRCm39) I207V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl5 T C 17: 28,798,920 (GRCm39) I143T possibly damaging Het
Lrrk1 T C 7: 65,955,269 (GRCm39) K431E possibly damaging Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Maml3 A T 3: 51,764,351 (GRCm39) N204K possibly damaging Het
Mmut A G 17: 41,269,763 (GRCm39) probably null Het
Mrpl19 T C 6: 81,941,047 (GRCm39) S115G probably damaging Het
Mthfd1l G C 10: 4,098,025 (GRCm39) G954A probably damaging Het
Myo19 A G 11: 84,783,001 (GRCm39) I172V probably benign Het
Naca T C 10: 127,876,530 (GRCm39) probably benign Het
Nbeal2 G A 9: 110,465,955 (GRCm39) probably benign Het
Nfatc2 T C 2: 168,348,914 (GRCm39) N638D possibly damaging Het
Or52r1c C A 7: 102,734,957 (GRCm39) D72E probably damaging Het
Or8b49 T A 9: 38,505,939 (GRCm39) C141S probably damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Prcd A G 11: 116,550,637 (GRCm39) E103G possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rad54l2 A G 9: 106,631,142 (GRCm39) probably null Het
Rb1cc1 T A 1: 6,319,590 (GRCm39) M1003K probably benign Het
Scap A T 9: 110,203,093 (GRCm39) M256L probably benign Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Tmem120b T A 5: 123,252,167 (GRCm39) I146N probably damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Ube3a T A 7: 58,926,267 (GRCm39) C348* probably null Het
Ubr4 T A 4: 139,149,166 (GRCm39) D1777E probably benign Het
Unc79 C A 12: 103,079,476 (GRCm39) D1880E probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A 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
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
R2885:Cyp4b1 UTSW 4 115,492,849 (GRCm39) missense probably damaging 1.00
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
Posted On 2017-05-11