Mutagenetix > Incidental Mutation

Incidental Mutation 'R7086:Cyp8b1'

549902

Institutional Source

Beutler Lab

Gene Symbol

Cyp8b1

Ensembl Gene

ENSMUSG00000050445

Gene Name

cytochrome P450, family 8, subfamily b, polypeptide 1

Synonyms

sterol 12-alpha-hydrolase

MMRRC Submission

045180-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R7086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121743422-121745371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121744355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 326 (F326L)

Ref Sequence

ENSEMBL: ENSMUSP00000052989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050327] [ENSMUST00000062474] [ENSMUST00000214340]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050327

SMART Domains

Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
Pfam:7tm_1	62	311	1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000062474
AA Change: F326L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445
AA Change: F326L

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
Pfam:p450	32	492	5.7e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214340

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (60/61)

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 endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele lack synthsesis of cholate (a primary bile acid) and its metabolites and display an increased bile acid pool and alterations in cholesterol metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,068,635 (GRCm39)	H28R	probably damaging	Het
Adgre4	T	C	17: 56,127,649 (GRCm39)	I563T	probably benign	Het
Ankub1	A	T	3: 57,597,746 (GRCm39)	C75S	probably damaging	Het
Antxrl	G	A	14: 33,787,873 (GRCm39)	V299I	probably benign	Het
Arfgef2	T	A	2: 166,718,536 (GRCm39)	C1442S	probably damaging	Het
Atp13a3	T	C	16: 30,169,881 (GRCm39)	D399G	possibly damaging	Het
Cacna2d1	T	A	5: 16,554,414 (GRCm39)	Y666N	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cfap91	A	T	16: 38,127,219 (GRCm39)	F512L	possibly damaging	Het
Chrng	C	A	1: 87,138,735 (GRCm39)	R455S	probably benign	Het
Cimap1a	A	G	7: 140,429,402 (GRCm39)	H151R	probably benign	Het
Cluh	T	A	11: 74,558,166 (GRCm39)	H1155Q	possibly damaging	Het
Col16a1	G	A	4: 129,946,773 (GRCm39)		probably null	Het
Cpne5	G	A	17: 29,378,051 (GRCm39)	P576L	unknown	Het
Crocc	C	A	4: 140,774,368 (GRCm39)	V144L	possibly damaging	Het
Cubn	A	G	2: 13,324,669 (GRCm39)	V2781A	probably damaging	Het
Dclk1	G	A	3: 55,395,333 (GRCm39)		probably null	Het
Dennd2b	A	G	7: 109,124,781 (GRCm39)	I1083T	probably damaging	Het
Dnah7c	A	G	1: 46,789,285 (GRCm39)	R3303G	probably benign	Het
Dnhd1	G	T	7: 105,357,739 (GRCm39)	R3191S	probably benign	Het
Fgfbp3	T	G	19: 36,896,103 (GRCm39)	S172R	possibly damaging	Het
Gpr158	G	A	2: 21,831,386 (GRCm39)	V829I	probably benign	Het
Gtse1	A	G	15: 85,759,750 (GRCm39)	D647G	probably damaging	Het
H2-Q7	T	A	17: 35,658,461 (GRCm39)	V33E	probably damaging	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Kcnip1	G	T	11: 33,584,629 (GRCm39)	P175T	probably damaging	Het
Klhl10	T	C	11: 100,347,768 (GRCm39)	V608A	probably benign	Het
Klhl2	A	G	8: 65,275,664 (GRCm39)	Y80H	probably damaging	Het
Lnx2	A	T	5: 146,956,988 (GRCm39)		probably null	Het
Lst1	G	A	17: 35,404,262 (GRCm39)	H59Y	probably damaging	Het
Mphosph8	G	C	14: 56,905,980 (GRCm39)	V58L	possibly damaging	Het
Mpnd	C	A	17: 56,316,457 (GRCm39)	S45R	possibly damaging	Het
Myh8	A	G	11: 67,183,453 (GRCm39)		probably null	Het
Or12j4	A	G	7: 140,046,341 (GRCm39)	T76A	possibly damaging	Het
Or4c52	A	G	2: 89,845,594 (GRCm39)	I107V	probably benign	Het
Phox2a	A	G	7: 101,467,718 (GRCm39)	Y5C	probably damaging	Het
Pkdrej	A	G	15: 85,704,317 (GRCm39)	S540P	probably damaging	Het
Plcb4	A	G	2: 135,849,767 (GRCm39)	M1133V	probably benign	Het
Plxnc1	T	C	10: 94,667,297 (GRCm39)	M1126V	probably benign	Het
Ppm1l	A	G	3: 69,225,186 (GRCm39)	Y96C	probably damaging	Het
Prpsap1	T	C	11: 116,368,109 (GRCm39)	T234A	probably benign	Het
R3hcc1l	T	C	19: 42,570,409 (GRCm39)	V668A	probably damaging	Het
Rapgef2	A	G	3: 78,993,353 (GRCm39)	S712P	probably benign	Het
Rcc2	T	C	4: 140,435,280 (GRCm39)	C100R	probably benign	Het
Recql4	C	A	15: 76,589,753 (GRCm39)	G764V	unknown	Het
Rlbp1	A	G	7: 79,029,813 (GRCm39)	I140T	possibly damaging	Het
Samsn1	T	C	16: 75,667,794 (GRCm39)	T261A	probably benign	Het
Sgtb	T	C	13: 104,254,924 (GRCm39)	S65P	possibly damaging	Het
Spag9	T	C	11: 93,988,690 (GRCm39)	V920A	probably benign	Het
Spata31	T	A	13: 65,070,043 (GRCm39)	S730R	probably benign	Het
Spta1	C	T	1: 174,027,050 (GRCm39)	A841V	probably damaging	Het
Tnfaip1	T	C	11: 78,416,265 (GRCm39)	S273G	probably benign	Het
Vezf1	T	C	11: 87,969,364 (GRCm39)	V371A	probably benign	Het
Vmn1r67	G	A	7: 10,181,044 (GRCm39)	V103I	possibly damaging	Het
Vmn2r87	G	T	10: 130,333,178 (GRCm39)	T24K	probably benign	Het
Wdr43	G	A	17: 71,923,434 (GRCm39)	G60D	probably benign	Het
Xkr4	G	A	1: 3,287,185 (GRCm39)	T335I	probably damaging	Het
Zdhhc23	A	T	16: 43,791,873 (GRCm39)	I300N	probably damaging	Het
Zfp729b	T	C	13: 67,741,056 (GRCm39)	K403R	probably damaging	Het

Other mutations in Cyp8b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Cyp8b1	APN	9	121,744,061 (GRCm39)	missense	probably damaging	0.98
IGL01874:Cyp8b1	APN	9	121,744,969 (GRCm39)	missense	possibly damaging	0.71
IGL02004:Cyp8b1	APN	9	121,744,058 (GRCm39)	missense	probably benign	0.01
IGL02218:Cyp8b1	APN	9	121,744,183 (GRCm39)	missense	probably damaging	1.00
IGL02606:Cyp8b1	APN	9	121,744,801 (GRCm39)	missense	probably damaging	1.00
IGL02724:Cyp8b1	APN	9	121,744,453 (GRCm39)	missense	probably benign	0.12
IGL02796:Cyp8b1	UTSW	9	121,744,564 (GRCm39)	missense	probably benign
R1052:Cyp8b1	UTSW	9	121,744,348 (GRCm39)	missense	possibly damaging	0.67
R1223:Cyp8b1	UTSW	9	121,744,070 (GRCm39)	missense	possibly damaging	0.71
R1572:Cyp8b1	UTSW	9	121,744,024 (GRCm39)	missense	possibly damaging	0.94
R1639:Cyp8b1	UTSW	9	121,743,956 (GRCm39)	missense	probably benign	0.01
R3833:Cyp8b1	UTSW	9	121,745,109 (GRCm39)	missense	probably benign	0.00
R3938:Cyp8b1	UTSW	9	121,744,684 (GRCm39)	missense	probably benign	0.05
R4151:Cyp8b1	UTSW	9	121,745,134 (GRCm39)	missense	probably damaging	1.00
R4615:Cyp8b1	UTSW	9	121,745,164 (GRCm39)	nonsense	probably null
R4625:Cyp8b1	UTSW	9	121,744,651 (GRCm39)	missense	probably damaging	0.99
R5327:Cyp8b1	UTSW	9	121,743,950 (GRCm39)	missense	probably damaging	0.99
R6391:Cyp8b1	UTSW	9	121,744,864 (GRCm39)	nonsense	probably null
R6998:Cyp8b1	UTSW	9	121,745,059 (GRCm39)	missense	probably benign
R7162:Cyp8b1	UTSW	9	121,744,777 (GRCm39)	missense	probably damaging	0.99
R7210:Cyp8b1	UTSW	9	121,744,246 (GRCm39)	missense	probably damaging	1.00
R7223:Cyp8b1	UTSW	9	121,744,163 (GRCm39)	missense	probably damaging	1.00
R8352:Cyp8b1	UTSW	9	121,744,997 (GRCm39)	missense	probably damaging	0.97
R8392:Cyp8b1	UTSW	9	121,744,300 (GRCm39)	missense	probably damaging	0.98
R8452:Cyp8b1	UTSW	9	121,744,997 (GRCm39)	missense	probably damaging	0.97
R8672:Cyp8b1	UTSW	9	121,743,986 (GRCm39)	missense	probably benign	0.00
R8897:Cyp8b1	UTSW	9	121,745,358 (GRCm39)	start gained	probably benign
R9484:Cyp8b1	UTSW	9	121,744,983 (GRCm39)	missense	probably benign	0.00
R9764:Cyp8b1	UTSW	9	121,744,294 (GRCm39)	missense	probably benign	0.03
RF013:Cyp8b1	UTSW	9	121,744,561 (GRCm39)	missense	possibly damaging	0.59
Z1177:Cyp8b1	UTSW	9	121,745,212 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp8b1	UTSW	9	121,744,597 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGGAAGAGAGCCACCTTATC -3'
(R):5'- AGCTGTTGGTTAGGCTACATGC -3'

Sequencing Primer
(F):5'- GAGAGCCACCTTATCTCCGC -3'
(R):5'- GGAATAGCTTCATCCATGCAGG -3'

Posted On

2019-05-15