Mutagenetix > Incidental Mutation

Incidental Mutation 'R7210:Cyp8b1'

561008

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

045239-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

R7210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121743422-121745371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121744246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 362 (D362V)

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 damaging
Transcript: ENSMUST00000062474
AA Change: D362V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445
AA Change: D362V

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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
Abcc3	G	A	11: 94,264,767 (GRCm39)	P194S	probably benign	Het
Ackr2	C	T	9: 121,737,943 (GRCm39)	A106V	possibly damaging	Het
Alg3	G	A	16: 20,424,644 (GRCm39)	P112L	unknown	Het
Areg	T	A	5: 91,288,764 (GRCm39)	Y23*	probably null	Het
Aspn	A	G	13: 49,719,967 (GRCm39)	T328A	probably benign	Het
B020011L13Rik	A	T	1: 117,729,241 (GRCm39)	E249D	possibly damaging	Het
Bptf	G	A	11: 106,945,290 (GRCm39)	Q2650*	probably null	Het
Btbd3	A	T	2: 138,125,664 (GRCm39)	R283W	probably damaging	Het
Cep131	T	C	11: 119,955,615 (GRCm39)	H1035R	probably damaging	Het
Cfap57	A	T	4: 118,433,900 (GRCm39)	Y959*	probably null	Het
Cnot1	T	C	8: 96,515,286 (GRCm39)	Y25C	probably damaging	Het
Crebbp	G	A	16: 3,902,121 (GRCm39)	H2373Y	possibly damaging	Het
Ctnna3	T	C	10: 64,086,547 (GRCm39)	L373P	probably damaging	Het
D630003M21Rik	T	A	2: 158,057,932 (GRCm39)		probably null	Het
Dpp6	T	C	5: 27,803,801 (GRCm39)	I249T	probably damaging	Het
Fam149b	T	G	14: 20,428,540 (GRCm39)	I475M	probably damaging	Het
Fat1	A	G	8: 45,476,540 (GRCm39)	Y1862C	probably damaging	Het
Fcrl5	A	T	3: 87,353,719 (GRCm39)	N355Y	possibly damaging	Het
Fgd6	C	T	10: 93,969,954 (GRCm39)	T1201I	probably damaging	Het
Fndc8	A	T	11: 82,788,692 (GRCm39)	D174V	probably damaging	Het
Gatb	A	G	3: 85,481,527 (GRCm39)	H26R	probably benign	Het
Gm37240	T	A	3: 84,405,114 (GRCm39)	T230S	probably benign	Het
Gria4	T	C	9: 4,464,135 (GRCm39)	Q609R	probably damaging	Het
Gse1	C	A	8: 120,957,441 (GRCm39)	T644K	unknown	Het
Ifit1bl1	T	G	19: 34,571,564 (GRCm39)	I298L	probably benign	Het
Il31ra	T	C	13: 112,686,034 (GRCm39)	D85G	possibly damaging	Het
Katnip	T	C	7: 125,471,411 (GRCm39)	V1504A	probably damaging	Het
Lyst	T	C	13: 13,831,568 (GRCm39)	L1664P	probably damaging	Het
Mrpl35	A	G	6: 71,794,722 (GRCm39)	L82S	possibly damaging	Het
Myo7b	G	A	18: 32,140,155 (GRCm39)	R212C	probably damaging	Het
Myom2	T	C	8: 15,154,114 (GRCm39)	V684A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nop58	G	T	1: 59,749,539 (GRCm39)		probably null	Het
Nudt13	T	A	14: 20,359,852 (GRCm39)	I193N	possibly damaging	Het
Nyap1	C	A	5: 137,736,244 (GRCm39)	R81L	probably damaging	Het
Or1e28-ps1	T	C	11: 73,615,699 (GRCm39)	I50M	possibly damaging	Het
Oxct2b	A	C	4: 123,010,069 (GRCm39)		probably benign	Het
Pcf11	C	T	7: 92,312,684 (GRCm39)	A230T	probably benign	Het
Phactr4	A	T	4: 132,085,582 (GRCm39)	*695R	probably null	Het
Pkd1	T	C	17: 24,794,840 (GRCm39)	S2176P	probably damaging	Het
Plch2	C	A	4: 155,093,543 (GRCm39)	R133L	probably damaging	Het
Ptprq	G	T	10: 107,521,032 (GRCm39)	N713K	probably damaging	Het
Ptrh2	A	T	11: 86,580,793 (GRCm39)	T137S	probably benign	Het
R3hdm1	A	G	1: 128,138,945 (GRCm39)	Y718C	possibly damaging	Het
Rftn1	T	A	17: 50,301,335 (GRCm39)	R505*	probably null	Het
Rps15a	A	G	7: 117,708,334 (GRCm39)	F128L	probably benign	Het
Slc25a25	A	T	2: 32,310,408 (GRCm39)	M177K	possibly damaging	Het
Smgc	C	A	15: 91,744,492 (GRCm39)	P631Q	probably damaging	Het
Sox2	T	C	3: 34,705,306 (GRCm39)	S248P	probably damaging	Het
Sycp1	T	C	3: 102,760,808 (GRCm39)	K702E	probably damaging	Het
Tes	G	T	6: 17,104,761 (GRCm39)	C414F	probably damaging	Het
Tet1	A	T	10: 62,650,280 (GRCm39)	C14S	probably null	Het
Tle3	C	T	9: 61,319,587 (GRCm39)	P452S	probably damaging	Het
Tmc6	A	C	11: 117,666,670 (GRCm39)	L131R	possibly damaging	Het
Tnip3	C	T	6: 65,570,495 (GRCm39)	R30*	probably null	Het
Tnrc6b	G	T	15: 80,813,486 (GRCm39)	G1748W	probably damaging	Het
Ugt2b38	T	G	5: 87,558,284 (GRCm39)	D459A	probably damaging	Het
Zdhhc2	A	T	8: 40,920,480 (GRCm39)	R246S	probably damaging	Het
Zscan22	T	A	7: 12,640,748 (GRCm39)	C331S	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
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
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'- GGATCTTCTTGCCCGACTTG -3'
(R):5'- GGTCCTCTTATTCCTGCTGAAG -3'

Sequencing Primer
(F):5'- ACTTGTAGAAGTCCACTTTCCGGG -3'
(R):5'- CTGAAGCACCAGGATGCCATG -3'

Posted On

2019-06-26