Mutagenetix > Incidental Mutation

Incidental Mutation 'R7223:Cyp8b1'

561949

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

045295-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R7223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121914356-121916305 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121915097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 390 (H390Y)

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: H390Y

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

SMART Domains

Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445
AA Change: H390Y

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: 99.6%
20x: 98.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,274,143	V733E	probably benign	Het
Adam34	A	T	8: 43,652,004	N201K	probably benign	Het
Aldh3b2	A	C	19: 3,979,592	S322R	probably damaging	Het
Anpep	A	T	7: 79,825,310	L914Q	probably damaging	Het
Arhgap30	T	C	1: 171,407,571	F535S	probably damaging	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Baz2a	G	T	10: 128,112,606	G252V	probably damaging	Het
Brinp3	T	A	1: 146,901,074	S420T	possibly damaging	Het
Carmil3	T	C	14: 55,496,238	F359S	possibly damaging	Het
Ccdc124	A	T	8: 70,868,526	L190Q	probably damaging	Het
Ccr6	T	C	17: 8,256,140	V59A	probably damaging	Het
Ccr8	T	A	9: 120,094,617	I266N	probably damaging	Het
Cdh23	T	A	10: 60,331,817	E1798V	probably damaging	Het
Cdk5rap2	T	C	4: 70,235,447	N1713S	probably benign	Het
Cep19	T	A	16: 32,104,015	I33N	probably damaging	Het
Cers3	A	T	7: 66,783,415	Y196F	probably damaging	Het
Cidea	T	C	18: 67,366,421	I126T	probably damaging	Het
Copg2	A	T	6: 30,812,754	Y546*	probably null	Het
Cul3	A	T	1: 80,287,000	V261E	probably benign	Het
Cyp2g1	A	T	7: 26,814,632	D221V	probably damaging	Het
Daam1	T	C	12: 71,988,943	F971L	probably damaging	Het
Dnajc24	G	A	2: 106,001,966	S24L	possibly damaging	Het
Dpysl3	T	C	18: 43,438,042	S56G	probably benign	Het
Esp1	A	G	17: 40,731,081	D88G	probably benign	Het
Fam171b	A	G	2: 83,878,230	T359A	probably damaging	Het
Fam186b	T	C	15: 99,279,837	E536G	possibly damaging	Het
Fbxo3	T	C	2: 104,043,012	V156A	possibly damaging	Het
Gls2	C	A	10: 128,199,194	H65Q	probably benign	Het
Gp2	A	G	7: 119,451,498		probably null	Het
Gpcpd1	T	A	2: 132,534,056	K435I	probably benign	Het
Gpx6	T	A	13: 21,317,670		probably null	Het
Hps3	A	T	3: 20,030,419	S202T	probably benign	Het
Htr1d	T	A	4: 136,443,501	L347H	probably damaging	Het
Igfals	T	C	17: 24,881,234	L433P	probably damaging	Het
Ilvbl	C	T	10: 78,583,696	H537Y	probably benign	Het
Iqgap2	A	T	13: 95,628,972	M1530K	probably damaging	Het
Jarid2	A	G	13: 44,896,322	T247A	possibly damaging	Het
L3hypdh	C	T	12: 72,074,009	V323I	possibly damaging	Het
Lama3	C	T	18: 12,582,608	T1707I	possibly damaging	Het
Map6	G	T	7: 99,268,025	A2S	probably damaging	Het
Mfap3	T	A	11: 57,530,240	I349K	probably benign	Het
Mybl2	A	G	2: 163,072,705	T248A	probably benign	Het
N6amt1	A	G	16: 87,362,660	*151W	probably null	Het
Nhlrc1	A	G	13: 47,014,208	V191A	probably benign	Het
Nkx2-5	T	C	17: 26,839,620	E120G	possibly damaging	Het
Olfr1066	T	A	2: 86,455,867	I135F	possibly damaging	Het
Olfr1380	T	A	11: 49,564,098	M59K	probably damaging	Het
Olfr582	C	A	7: 103,041,632	T46N	possibly damaging	Het
Olfr890	T	C	9: 38,143,753	V201A	probably benign	Het
Pcdha8	T	G	18: 36,993,148	L228V	probably benign	Het
Pcsk2	A	G	2: 143,690,333	T134A	possibly damaging	Het
Phldb3	G	A	7: 24,624,653	R484Q	probably benign	Het
Pipox	A	G	11: 77,881,186	S371P	probably damaging	Het
Plekhg1	T	C	10: 3,873,343	S159P		Het
Psme4	C	T	11: 30,874,226	P1737S	probably benign	Het
Pygm	G	A	19: 6,388,863	D328N	probably benign	Het
Rabgef1	A	T	5: 130,190,960	E88V	probably benign	Het
Rims2	G	T	15: 39,437,032	R245L	probably benign	Het
Slc38a4	T	C	15: 97,010,345	I172V	probably damaging	Het
Slc4a10	T	A	2: 62,268,665	Y586N	probably damaging	Het
Snap91	C	T	9: 86,879,557		probably benign	Het
Sorcs1	C	T	19: 50,190,042	V881I	probably benign	Het
Spef2	A	T	15: 9,601,640	V1512E	unknown	Het
Sufu	T	C	19: 46,453,277	I292T	possibly damaging	Het
Tet1	T	C	10: 62,813,671	N87D	possibly damaging	Het
Tmem108	T	C	9: 103,499,534	T239A	not run	Het
Tmem121	A	T	12: 113,188,494	K111*	probably null	Het
Tpp2	T	A	1: 43,968,888	D417E	probably damaging	Het
Tpr	G	A	1: 150,439,256	E2025K	possibly damaging	Het
Trappc3	C	T	4: 126,275,152	A145V	possibly damaging	Het
Ttn	T	C	2: 76,890,981	D6754G	probably null	Het
Unc13c	T	A	9: 73,629,191	M1627L	probably benign	Het
Ush2a	A	G	1: 188,810,217	I3327V	probably benign	Het
Vmn1r74	C	T	7: 11,846,967	Q65*	probably null	Het
Wdr18	G	A	10: 79,960,368	R69H	probably damaging	Het
Zbed5	G	T	5: 129,900,438	D132Y	probably damaging	Het
Zfp644	A	T	5: 106,637,582	Y366*	probably null	Het
Zfyve26	T	C	12: 79,246,171	N2068S	probably damaging	Het
Zic2	T	C	14: 122,476,091	F139S	probably damaging	Het
Zmynd11	T	C	13: 9,710,162	Q141R	probably benign	Het
Zrsr1	A	G	11: 22,973,388	E54G	probably benign	Het
Zscan10	G	A	17: 23,609,482	D333N	probably benign	Het

Other mutations in Cyp8b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Cyp8b1	APN	9	121914995	missense	probably damaging	0.98
IGL01874:Cyp8b1	APN	9	121915903	missense	possibly damaging	0.71
IGL02004:Cyp8b1	APN	9	121914992	missense	probably benign	0.01
IGL02218:Cyp8b1	APN	9	121915117	missense	probably damaging	1.00
IGL02606:Cyp8b1	APN	9	121915735	missense	probably damaging	1.00
IGL02724:Cyp8b1	APN	9	121915387	missense	probably benign	0.12
IGL02796:Cyp8b1	UTSW	9	121915498	missense	probably benign
R1052:Cyp8b1	UTSW	9	121915282	missense	possibly damaging	0.67
R1223:Cyp8b1	UTSW	9	121915004	missense	possibly damaging	0.71
R1572:Cyp8b1	UTSW	9	121914958	missense	possibly damaging	0.94
R1639:Cyp8b1	UTSW	9	121914890	missense	probably benign	0.01
R3833:Cyp8b1	UTSW	9	121916043	missense	probably benign	0.00
R3938:Cyp8b1	UTSW	9	121915618	missense	probably benign	0.05
R4151:Cyp8b1	UTSW	9	121916068	missense	probably damaging	1.00
R4615:Cyp8b1	UTSW	9	121916098	nonsense	probably null
R4625:Cyp8b1	UTSW	9	121915585	missense	probably damaging	0.99
R5327:Cyp8b1	UTSW	9	121914884	missense	probably damaging	0.99
R6391:Cyp8b1	UTSW	9	121915798	nonsense	probably null
R6998:Cyp8b1	UTSW	9	121915993	missense	probably benign
R7086:Cyp8b1	UTSW	9	121915289	missense	probably benign	0.02
R7162:Cyp8b1	UTSW	9	121915711	missense	probably damaging	0.99
R7210:Cyp8b1	UTSW	9	121915180	missense	probably damaging	1.00
R8352:Cyp8b1	UTSW	9	121915931	missense	probably damaging	0.97
R8392:Cyp8b1	UTSW	9	121915234	missense	probably damaging	0.98
R8452:Cyp8b1	UTSW	9	121915931	missense	probably damaging	0.97
R8672:Cyp8b1	UTSW	9	121914920	missense	probably benign	0.00
R8897:Cyp8b1	UTSW	9	121916292	start gained	probably benign
R9484:Cyp8b1	UTSW	9	121915917	missense	probably benign	0.00
R9764:Cyp8b1	UTSW	9	121915228	missense	probably benign	0.03
RF013:Cyp8b1	UTSW	9	121915495	missense	possibly damaging	0.59
Z1177:Cyp8b1	UTSW	9	121915531	missense	probably benign	0.06
Z1177:Cyp8b1	UTSW	9	121916146	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAGGTCTTCATCTCGCTGAG -3'
(R):5'- CTGGAAGCCAAGAAGTCGTTCAC -3'

Sequencing Primer
(F):5'- TCTTCATCTCGCTGAGGGCAAAG -3'
(R):5'- GCCAAGAAGTCGTTCACTTTCAC -3'

Posted On

2019-06-26