Incidental Mutation 'R9076:Cyp4b1'
ID 689777
Institutional Source Beutler Lab
Gene Symbol Cyp4b1
Ensembl Gene ENSMUSG00000028713
Gene Name cytochrome P450, family 4, subfamily b, polypeptide 1
Synonyms
MMRRC Submission 068897-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9076 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 115481922-115504920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115482424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 452 (N452D)
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

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:p450 51 504 1.3e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102707
AA Change: N452D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: N452D

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 probably benign
Transcript: ENSMUST00000145841
SMART Domains Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713

DomainStartEndE-ValueType
Pfam:p450 1 375 3.5e-101 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (67/68)
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
Adcy7 G A 8: 89,054,336 (GRCm39) G1064R probably damaging Het
Adcy9 A G 16: 4,106,687 (GRCm39) V1046A probably damaging Het
Adgrv1 C T 13: 81,570,247 (GRCm39) probably null Het
Apbb2 A C 5: 66,469,507 (GRCm39) L554W probably damaging Het
Arhgef10 C T 8: 15,024,993 (GRCm39) P722S probably damaging Het
B3galt9 A T 2: 34,729,209 (GRCm39) Y336F probably damaging Het
Capns1 A C 7: 29,893,510 (GRCm39) M1R probably null Het
Chst1 C T 2: 92,443,761 (GRCm39) Q78* probably null Het
Clec12b A G 6: 129,356,580 (GRCm39) S195P possibly damaging Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Defb40 A T 8: 19,024,994 (GRCm39) Y71N probably benign Het
Dhx8 G T 11: 101,629,021 (GRCm39) R190L Het
Disp1 G A 1: 182,868,799 (GRCm39) T1207M possibly damaging Het
Dnah9 T A 11: 66,008,464 (GRCm39) Y787F probably benign Het
Egflam T C 15: 7,237,155 (GRCm39) N1010D probably damaging Het
Fam151a T A 4: 106,603,254 (GRCm39) Y272N probably damaging Het
Fat1 T C 8: 45,492,938 (GRCm39) Y3887H probably damaging Het
Fpr3 T A 17: 18,191,725 (GRCm39) I332N probably benign Het
Frmd4a G T 2: 4,608,765 (GRCm39) G878W probably damaging Het
Fv1 T C 4: 147,953,628 (GRCm39) Y65H possibly damaging Het
Gabra6 G A 11: 42,198,289 (GRCm39) A387V probably benign Het
Gna11 T C 10: 81,366,715 (GRCm39) T332A Het
Gpr161 T A 1: 165,133,757 (GRCm39) H6Q possibly damaging Het
Grin2b CA C 6: 135,709,509 (GRCm39) probably null Het
Heatr3 A T 8: 88,876,827 (GRCm39) M290L probably benign Het
Ifi47 T G 11: 48,986,842 (GRCm39) I203R probably benign Het
Ighv5-8 TATACAT TAT 12: 113,618,583 (GRCm39) probably benign Het
Klhl10 A G 11: 100,337,962 (GRCm39) M234V possibly damaging Het
Klra4 A G 6: 130,039,107 (GRCm39) I95T possibly damaging Het
Krt84 A G 15: 101,438,098 (GRCm39) F286L probably damaging Het
Lrp2 A G 2: 69,350,260 (GRCm39) V704A probably benign Het
Lypd6b A T 2: 49,837,534 (GRCm39) S169C possibly damaging Het
Mapk12 T C 15: 89,024,611 (GRCm39) E22G probably benign Het
Ncapg T C 5: 45,833,983 (GRCm39) C340R probably benign Het
Ncor2 A G 5: 125,111,086 (GRCm39) L394P Het
Nek1 T G 8: 61,481,768 (GRCm39) S228A probably damaging Het
Or2ak7 T C 11: 58,574,722 (GRCm39) C8R probably benign Het
Or2t29 A T 11: 58,433,782 (GRCm39) C186* probably null Het
Or2t44 T A 11: 58,677,559 (GRCm39) F166L possibly damaging Het
Or4c119 C T 2: 88,986,719 (GRCm39) E267K possibly damaging Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Pcdha8 C A 18: 37,126,285 (GRCm39) P256T possibly damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Ptprn A T 1: 75,229,018 (GRCm39) M799K probably damaging Het
Rhpn2 A T 7: 35,083,473 (GRCm39) probably benign Het
Sae1 A G 7: 16,070,668 (GRCm39) F281L probably benign Het
Slc25a23 A G 17: 57,354,309 (GRCm39) Y366H probably benign Het
Slc25a25 G T 2: 32,309,175 (GRCm39) T222K probably damaging Het
Smarca2 T A 19: 26,659,452 (GRCm39) F914Y possibly damaging Het
Spef2 C A 15: 9,653,091 (GRCm39) V897L probably benign Het
Spon2 C A 5: 33,374,054 (GRCm39) E110* probably null Het
Sstr2 A G 11: 113,515,177 (GRCm39) N32S probably benign Het
Stk4 T C 2: 163,959,985 (GRCm39) V415A probably benign Het
Tcaf1 T G 6: 42,654,372 (GRCm39) T607P probably benign Het
Ush1c C A 7: 45,850,480 (GRCm39) L766F probably damaging Het
Usp9y T C Y: 1,383,354 (GRCm39) I795V probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r53 A G 7: 12,340,231 (GRCm39) S81P probably damaging Het
Vps45 A G 3: 95,960,345 (GRCm39) probably benign Het
Wdr6 A G 9: 108,451,627 (GRCm39) V752A probably benign Het
Xkr4 G A 1: 3,286,358 (GRCm39) R611* probably null Het
Zc3h6 T G 2: 128,859,096 (GRCm39) Y1042* probably null Het
Zfp236 A G 18: 82,638,469 (GRCm39) S1384P possibly damaging Het
Zfp800 A T 6: 28,243,215 (GRCm39) N583K probably benign Het
Zpld1 T C 16: 55,061,764 (GRCm39) S206G probably benign Het
Zxdc T A 6: 90,349,821 (GRCm39) S372R 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
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
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'- ACCTACTTTCCAGACCCAGG -3'
(R):5'- ATTCTGTGAGAGACTGAAAGCC -3'

Sequencing Primer
(F):5'- AGACCCAGGGCCCAGTG -3'
(R):5'- AATGTGAAGCTACCCACTGG -3'
Posted On 2021-11-19