Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Cyp8b1'

603347

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

Accession Numbers

Essential gene?

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

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121743422-121745371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121744561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 257 (M257K)

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

possibly damaging
Transcript: ENSMUST00000062474
AA Change: M257K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445
AA Change: M257K

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adamts9	A	G	6: 92,920,126 (GRCm39)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,475,260 (GRCm39)		probably benign	Het
Alk	A	G	17: 72,202,931 (GRCm39)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,979 (GRCm39)		probably benign	Het
Ano3	A	C	2: 110,527,381 (GRCm39)	L609R	probably benign	Het
Bicc1	A	G	10: 70,771,660 (GRCm39)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,104,906 (GRCm39)		probably benign	Het
Card6	T	C	15: 5,129,624 (GRCm39)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,597,937 (GRCm39)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,368,582 (GRCm39)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 47,047,670 (GRCm39)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,755,796 (GRCm39)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 86,922,485 (GRCm39)		probably benign	Het
Dbf4	A	T	5: 8,447,985 (GRCm39)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,327,751 (GRCm39)		probably benign	Het
Ercc6l2	A	T	13: 64,000,831 (GRCm39)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,522,706 (GRCm39)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,793,960 (GRCm39)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,981,149 (GRCm39)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 71,314,022 (GRCm39)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm4884	C	A	7: 40,690,233 (GRCm39)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,779 (GRCm39)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm39)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,479,650 (GRCm39)		probably benign	Het
Kif18b	T	C	11: 102,803,192 (GRCm39)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,019,995 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,088,057 (GRCm39)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 122,969,059 (GRCm39)		probably null	Het
Lmna	A	G	3: 88,391,361 (GRCm39)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Mboat7	T	A	7: 3,694,856 (GRCm39)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,183,387 (GRCm39)		probably benign	Het
Morc2a	T	A	11: 3,626,191 (GRCm39)	M225K	probably benign	Het
Mpdz	G	A	4: 81,211,829 (GRCm39)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,455,924 (GRCm39)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,984 (GRCm39)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,799,565 (GRCm39)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,329,409 (GRCm39)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Numa1	T	C	7: 101,648,987 (GRCm39)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,308,469 (GRCm39)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,124,190 (GRCm39)	S182P	probably benign	Het
Otop2	G	T	11: 115,214,492 (GRCm39)	R83L	probably benign	Het
Pmm1	T	A	15: 81,842,014 (GRCm39)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,301,514 (GRCm39)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,756,800 (GRCm39)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,588,605 (GRCm39)		probably benign	Het
Rsrp1	T	A	4: 134,651,266 (GRCm39)	V10E	unknown	Het
Sh2d6	C	T	6: 72,493,371 (GRCm39)		probably null	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,236,077 (GRCm39)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Sost	A	T	11: 101,854,958 (GRCm39)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,777,726 (GRCm39)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,183,975 (GRCm39)		probably null	Het
Tcaf1	C	T	6: 42,656,107 (GRCm39)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,968,815 (GRCm39)		probably benign	Het
Tex55	T	C	16: 38,648,363 (GRCm39)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm39)	I15V	unknown	Het
Tmem241	A	T	18: 12,116,618 (GRCm39)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,032,270 (GRCm39)	V100G	probably benign	Het
Trim66	A	G	7: 109,059,960 (GRCm39)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,394,464 (GRCm39)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,406,795 (GRCm39)	V220A	probably benign	Het
Zan	T	A	5: 137,389,982 (GRCm39)	Q4830L	unknown	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
R7086:Cyp8b1	UTSW	9	121,744,355 (GRCm39)	missense	probably benign	0.02
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
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'- AACGACTTCTTGGCTTCCAG -3'
(R):5'- CAAGCAGCAAGACCTGGATG -3'

Sequencing Primer
(F):5'- CTTACCCATGACCCTGGTGG -3'
(R):5'- ATGAGGCCGATGAGCTGTTCAG -3'

Posted On

2019-12-04