Mutagenetix > Incidental Mutation

Incidental Mutation 'R5382:Cyp7b1'

424773

Institutional Source

Beutler Lab

Gene Symbol

Cyp7b1

Ensembl Gene

ENSMUSG00000039519

Gene Name

cytochrome P450, family 7, subfamily b, polypeptide 1

Synonyms

D3Ertd552e, hct-1

MMRRC Submission

042957-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18126114-18297502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18151385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 276 (D276V)

Ref Sequence

ENSEMBL: ENSMUSP00000037487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035625]

AlphaFold

Q60991

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035625
AA Change: D276V

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037487
Gene: ENSMUSG00000039519
AA Change: D276V

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
Pfam:p450	44	496	1e-52	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (59/59)

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 first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele show significantly increased levels of 25- and 27-hydroxycholesterol, and reduced IgA levels. Female mice homozygous for a reporter allele display early onset of puberty and early ovarian failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,314,844 (GRCm39)	P250S	possibly damaging	Het
Actn2	T	A	13: 12,323,837 (GRCm39)	M133L	probably benign	Het
Arhgap32	A	T	9: 32,063,306 (GRCm39)	K105M	probably damaging	Het
BC034090	A	G	1: 155,101,349 (GRCm39)	V305A	probably benign	Het
Brd1	G	A	15: 88,613,767 (GRCm39)	T376M	probably damaging	Het
Cbl	C	T	9: 44,070,318 (GRCm39)	A505T	probably benign	Het
Cga	G	T	4: 34,904,048 (GRCm39)	M14I	probably benign	Het
Ciao3	A	G	17: 25,995,894 (GRCm39)		probably benign	Het
Cluh	T	C	11: 74,555,935 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,225,832 (GRCm39)	D165V	unknown	Het
Cp	T	C	3: 20,033,089 (GRCm39)	W639R	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ecpas	A	T	4: 58,850,934 (GRCm39)	M413K	probably benign	Het
Erc1	T	A	6: 119,738,233 (GRCm39)	M509L	probably benign	Het
Evi5l	A	G	8: 4,228,653 (GRCm39)		probably benign	Het
Exoc6	T	C	19: 37,587,127 (GRCm39)		probably null	Het
Gm38706	C	T	6: 130,460,744 (GRCm39)		noncoding transcript	Het
Gpr183	T	C	14: 122,192,333 (GRCm39)	T63A	possibly damaging	Het
Gpr63	T	A	4: 25,007,952 (GRCm39)	D225E	probably benign	Het
Grb14	T	A	2: 64,745,078 (GRCm39)	K93N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kif28	C	T	1: 179,527,847 (GRCm39)	G768D	probably damaging	Het
Krt79	A	T	15: 101,839,875 (GRCm39)	D373E	probably benign	Het
Mro	G	A	18: 74,009,893 (GRCm39)	S187N	probably benign	Het
Ms4a14	G	T	19: 11,280,421 (GRCm39)	D712E	possibly damaging	Het
Ndufaf1	T	C	2: 119,490,893 (GRCm39)	T56A	possibly damaging	Het
Nell2	A	T	15: 95,127,091 (GRCm39)	D761E	probably damaging	Het
Numb	A	G	12: 83,854,979 (GRCm39)	F116L	probably damaging	Het
Or3a1	T	A	11: 74,225,806 (GRCm39)	M84L	probably benign	Het
Or4c114	A	G	2: 88,905,079 (GRCm39)	Y119H	probably damaging	Het
Or5an11	A	T	19: 12,245,773 (GRCm39)	M60L	possibly damaging	Het
Or6c66	T	A	10: 129,461,876 (GRCm39)	D18V	probably damaging	Het
Or8k27	A	G	2: 86,275,660 (GRCm39)	L222P	probably damaging	Het
Or9g20	T	C	2: 85,630,492 (GRCm39)	N41D	probably damaging	Het
Otog	A	C	7: 45,898,428 (GRCm39)	N182T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Padi6	A	T	4: 140,458,521 (GRCm39)	V457E	probably damaging	Het
Pex16	G	A	2: 92,207,875 (GRCm39)	R109H	possibly damaging	Het
Phactr1	T	C	13: 43,288,695 (GRCm39)		probably benign	Het
Phf20	G	A	2: 156,109,417 (GRCm39)	E255K	probably damaging	Het
Pim1	A	G	17: 29,710,457 (GRCm39)		probably benign	Het
Prr23a2	T	A	9: 98,739,229 (GRCm39)	Y196N	probably damaging	Het
Prune2	A	T	19: 16,981,023 (GRCm39)	N60I	probably damaging	Het
Ptprb	T	A	10: 116,189,776 (GRCm39)	Y1812N	probably damaging	Het
Rab11fip4	A	G	11: 79,581,541 (GRCm39)	Y512C	possibly damaging	Het
Resf1	G	T	6: 149,227,958 (GRCm39)	E335*	probably null	Het
Rft1	T	C	14: 30,388,739 (GRCm39)	V221A	probably benign	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tgfbrap1	A	G	1: 43,115,025 (GRCm39)	I25T	probably benign	Het
Th	A	G	7: 142,449,177 (GRCm39)	F191S	probably damaging	Het
Trim3	C	A	7: 105,267,554 (GRCm39)	R275L	probably benign	Het
Trpm3	A	G	19: 22,862,705 (GRCm39)		probably null	Het
Wars1	A	T	12: 108,848,706 (GRCm39)	D80E	probably benign	Het
Wdr90	T	A	17: 26,064,572 (GRCm39)	Y1806F	probably damaging	Het
Zfp644	A	T	5: 106,782,735 (GRCm39)	I1182N	possibly damaging	Het

Other mutations in Cyp7b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02728:Cyp7b1	APN	3	18,126,739 (GRCm39)	missense	probably damaging	1.00
R0166:Cyp7b1	UTSW	3	18,151,530 (GRCm39)	missense	probably benign	0.23
R0334:Cyp7b1	UTSW	3	18,157,960 (GRCm39)	missense	probably damaging	1.00
R0417:Cyp7b1	UTSW	3	18,150,855 (GRCm39)	missense	probably damaging	1.00
R0696:Cyp7b1	UTSW	3	18,126,749 (GRCm39)	missense	probably benign	0.23
R0894:Cyp7b1	UTSW	3	18,151,674 (GRCm39)	missense	probably benign	0.00
R1799:Cyp7b1	UTSW	3	18,151,616 (GRCm39)	missense	probably benign	0.01
R1893:Cyp7b1	UTSW	3	18,150,731 (GRCm39)	missense	possibly damaging	0.57
R4538:Cyp7b1	UTSW	3	18,151,745 (GRCm39)	missense	possibly damaging	0.71
R4692:Cyp7b1	UTSW	3	18,126,728 (GRCm39)	missense	probably damaging	0.97
R4877:Cyp7b1	UTSW	3	18,151,457 (GRCm39)	missense	probably damaging	0.98
R5841:Cyp7b1	UTSW	3	18,151,670 (GRCm39)	missense	probably damaging	1.00
R6867:Cyp7b1	UTSW	3	18,151,394 (GRCm39)	missense	probably damaging	1.00
R7007:Cyp7b1	UTSW	3	18,151,782 (GRCm39)	nonsense	probably null
R7379:Cyp7b1	UTSW	3	18,151,538 (GRCm39)	missense	probably benign	0.23
R7554:Cyp7b1	UTSW	3	18,151,610 (GRCm39)	missense	probably benign	0.00
R7814:Cyp7b1	UTSW	3	18,151,466 (GRCm39)	missense	probably benign	0.00
R8137:Cyp7b1	UTSW	3	18,151,765 (GRCm39)	missense	probably benign	0.23
R8338:Cyp7b1	UTSW	3	18,151,730 (GRCm39)	missense	probably benign	0.01
R8898:Cyp7b1	UTSW	3	18,150,788 (GRCm39)	missense	probably benign	0.29
R9132:Cyp7b1	UTSW	3	18,151,476 (GRCm39)	missense	probably benign	0.05
R9285:Cyp7b1	UTSW	3	18,151,564 (GRCm39)	missense	probably damaging	1.00
R9378:Cyp7b1	UTSW	3	18,150,837 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGCTAATGAGAACCAATAGGC -3'
(R):5'- TGCATTCTGTGGCTCACTGG -3'

Sequencing Primer
(F):5'- GCTAATGAGAACCAATAGGCTTCTG -3'
(R):5'- GGCTCACTGGTATTTGAGATCAC -3'

Posted On

2016-08-04