Mutagenetix > Incidental Mutation

Incidental Mutation 'R7162:Cyp8b1'

557666

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

045261-MU

Accession Numbers

Essential gene?

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

Stock #

R7162 (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 121744777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 185 (F185S)

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: F185S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445
AA Change: F185S

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: 99.0%

Validation Efficiency

99% (85/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	C	T	1: 87,055,471 (GRCm39)	T506I	unknown	Het
Ank1	T	C	8: 23,622,370 (GRCm39)	W1640R	possibly damaging	Het
Atp2a2	A	G	5: 122,627,387 (GRCm39)	M126T	probably benign	Het
Bptf	A	T	11: 106,934,457 (GRCm39)		probably null	Het
Brat1	T	C	5: 140,696,004 (GRCm39)	V125A	probably benign	Het
Cables1	T	C	18: 12,059,423 (GRCm39)		probably null	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Cacna1b	A	C	2: 24,590,034 (GRCm39)	I558S	probably benign	Het
Ccdc166	A	G	15: 75,853,044 (GRCm39)	S308P	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cfhr2	A	G	1: 139,741,264 (GRCm39)	V237A	probably benign	Het
Clybl	C	A	14: 122,608,732 (GRCm39)	S108*	probably null	Het
Cubn	A	G	2: 13,347,309 (GRCm39)	Y2070H	probably damaging	Het
Dennd2c	T	A	3: 103,063,423 (GRCm39)	V620D	probably damaging	Het
Dis3l2	T	C	1: 86,971,752 (GRCm39)	F597L	possibly damaging	Het
Eif3f	G	A	7: 108,539,938 (GRCm39)	R282H	probably benign	Het
Ell	C	A	8: 71,031,559 (GRCm39)	R86S	possibly damaging	Het
Eppk1	A	G	15: 75,990,809 (GRCm39)	V2024A	possibly damaging	Het
Exoc6	T	C	19: 37,565,566 (GRCm39)	I214T	probably damaging	Het
Faim2	A	G	15: 99,419,048 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,168,306 (GRCm39)	S516P	probably benign	Het
Gm18596	A	T	10: 77,578,034 (GRCm39)	S147T	unknown	Het
Gm19965	A	G	1: 116,750,095 (GRCm39)	Y592C	unknown	Het
Gng12	T	C	6: 66,994,285 (GRCm39)	S36P	unknown	Het
Gramd2b	G	A	18: 56,618,529 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,624,744 (GRCm39)	T1054S	probably benign	Het
Ifngr1	A	G	10: 19,485,101 (GRCm39)	T367A	probably benign	Het
Il21r	G	T	7: 125,231,483 (GRCm39)	V304L	probably benign	Het
Ino80d	G	A	1: 63,104,894 (GRCm39)	T394M	probably damaging	Het
Itfg2	C	T	6: 128,387,546 (GRCm39)	V380M	probably damaging	Het
Kcna5	C	T	6: 126,510,806 (GRCm39)	V441I	possibly damaging	Het
Kcp	T	A	6: 29,497,199 (GRCm39)		probably null	Het
Kdf1	C	T	4: 133,257,229 (GRCm39)	T375I	unknown	Het
Klk1b1	A	T	7: 43,618,671 (GRCm39)	D16V	probably damaging	Het
Krtap5-4	A	C	7: 141,857,335 (GRCm39)	T2P	unknown	Het
Lamtor1	A	G	7: 101,555,243 (GRCm39)	D13G	probably benign	Het
Lrp10	T	C	14: 54,703,163 (GRCm39)	V72A	possibly damaging	Het
Lrrc1	C	A	9: 77,339,472 (GRCm39)	A503S	probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Myo5b	C	G	18: 74,828,498 (GRCm39)	L717V	probably benign	Het
Myoz3	T	A	18: 60,709,485 (GRCm39)	R225S	probably damaging	Het
Myrf	A	G	19: 10,196,010 (GRCm39)	F335L	possibly damaging	Het
Nfib	A	C	4: 82,268,677 (GRCm39)	S292A	probably damaging	Het
Notch3	G	T	17: 32,365,423 (GRCm39)	H1096Q	probably damaging	Het
Nt5c1a	A	G	4: 123,107,898 (GRCm39)	R194G	probably benign	Het
Or10d3	A	G	9: 39,461,525 (GRCm39)	I214T	probably damaging	Het
Or5a1	A	G	19: 12,097,501 (GRCm39)	F192L	possibly damaging	Het
Parp4	A	G	14: 56,886,333 (GRCm39)	E1804G	unknown	Het
Pcdhac2	A	T	18: 37,278,840 (GRCm39)	I607L	probably benign	Het
Pcdhb5	A	G	18: 37,454,739 (GRCm39)	D373G	probably benign	Het
Pcf11	A	T	7: 92,313,221 (GRCm39)	V154E	probably damaging	Het
Pdia3	T	G	2: 121,260,002 (GRCm39)	D180E	probably benign	Het
Piezo2	C	A	18: 63,257,780 (GRCm39)	V313F	possibly damaging	Het
Pik3ap1	C	A	19: 41,309,965 (GRCm39)	A452S	probably benign	Het
Plb1	A	G	5: 32,507,007 (GRCm39)	K1194R	probably benign	Het
Pld3	A	C	7: 27,231,899 (GRCm39)	W431G	probably damaging	Het
Plekha3	T	C	2: 76,523,110 (GRCm39)		probably null	Het
Ppm1f	G	T	16: 16,732,057 (GRCm39)	R169L	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,673 (GRCm38)	V60A		Het
Prop1	T	A	11: 50,842,881 (GRCm39)	D102V	probably damaging	Het
Rbm27	G	A	18: 42,447,092 (GRCm39)	G446R	unknown	Het
Rc3h2	C	A	2: 37,299,617 (GRCm39)	V138L	possibly damaging	Het
Rorc	G	A	3: 94,284,915 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,087,702 (GRCm39)	V723A	possibly damaging	Het
Sart3	A	G	5: 113,900,896 (GRCm39)	Y181H	probably damaging	Het
Sbpl	A	T	17: 24,172,439 (GRCm39)	M160K	possibly damaging	Het
Sh3gl3	A	G	7: 81,933,350 (GRCm39)	S238G	probably benign	Het
Slc22a30	A	G	19: 8,314,081 (GRCm39)		probably null	Het
Slc3a1	A	T	17: 85,371,442 (GRCm39)	R665*	probably null	Het
Stk32a	C	A	18: 43,430,649 (GRCm39)	Y186*	probably null	Het
Stxbp6	T	C	12: 44,949,663 (GRCm39)	N89D	probably benign	Het
Svep1	A	G	4: 58,070,262 (GRCm39)	F2508S	possibly damaging	Het
Tas1r1	A	G	4: 152,116,695 (GRCm39)	V313A	possibly damaging	Het
Tmem81	T	C	1: 132,435,355 (GRCm39)	Y54H	probably damaging	Het
Tmtc1	T	C	6: 148,172,985 (GRCm39)	N582S	probably damaging	Het
Top2b	T	C	14: 16,416,653 (GRCm38)	S1138P	probably benign	Het
Trim24	T	A	6: 37,942,456 (GRCm39)	N989K	possibly damaging	Het
Trim72	T	A	7: 127,606,821 (GRCm39)	M145K	probably benign	Het
Ttll9	T	A	2: 152,831,523 (GRCm39)	S154T	probably damaging	Het
Tusc3	T	C	8: 39,593,741 (GRCm39)	V286A	probably benign	Het
Vat1l	C	A	8: 114,963,518 (GRCm39)	H185N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,128 (GRCm39)	D187E	probably damaging	Het
Vmn2r87	T	C	10: 130,313,416 (GRCm39)	N450S	probably benign	Het
Wdr7	T	A	18: 63,857,210 (GRCm39)	D95E	possibly damaging	Het
Zfp937	C	T	2: 150,081,439 (GRCm39)	H490Y	probably benign	Het
Zfp974	A	T	7: 27,610,944 (GRCm39)	H260Q	possibly 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
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'- CAGGTTTTGCTTCACAGAGAGTC -3'
(R):5'- CCAGTCTGTAGATGGGGATCAC -3'

Sequencing Primer
(F):5'- TCTCTGATGGAAGAGACGCTGC -3'
(R):5'- GGATGATCCACTTAGCTAGTACC -3'

Posted On

2019-06-26