Mutagenetix > Incidental Mutation

Incidental Mutation 'R0166:Cyp7b1'

24151

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

038442-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0166 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18126114-18297502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18151530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 228 (I228L)

Ref Sequence

ENSEMBL: ENSMUSP00000037487 (fasta)

Gene Model

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

AlphaFold

Q60991

Predicted Effect

probably benign
Transcript: ENSMUST00000035625
AA Change: I228L

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037487
Gene: ENSMUSG00000039519
AA Change: I228L

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.4%

Validation Efficiency

91% (49/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,903,468 (GRCm39)	F1040L	probably damaging	Het
Adamts7	A	G	9: 90,075,745 (GRCm39)	N1201S	probably benign	Het
Ahnak	C	T	19: 8,983,089 (GRCm39)	P1458S	probably damaging	Het
Akap6	T	C	12: 53,187,707 (GRCm39)	V1707A	probably benign	Het
Akr1c21	T	A	13: 4,631,263 (GRCm39)	V266E	probably damaging	Het
Arap2	A	C	5: 62,833,361 (GRCm39)	C894G	probably damaging	Het
Atp2a2	T	C	5: 122,604,901 (GRCm39)	D426G	possibly damaging	Het
Azi2	A	T	9: 117,884,909 (GRCm39)	Q132L	possibly damaging	Het
Carmil1	C	T	13: 24,283,032 (GRCm39)	D91N	probably damaging	Het
Cnot7	A	T	8: 40,960,494 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,202,086 (GRCm39)	E311G	probably benign	Het
Csmd1	A	G	8: 16,283,036 (GRCm39)	V640A	probably benign	Het
Cst7	T	C	2: 150,417,647 (GRCm39)	S31P	probably benign	Het
Ddx28	G	A	8: 106,736,921 (GRCm39)	T379I	probably benign	Het
Drd1	T	A	13: 54,207,600 (GRCm39)	I205F	probably damaging	Het
Flnb	T	A	14: 7,896,115 (GRCm38)	V837D	probably damaging	Het
Fsd1l	A	G	4: 53,647,664 (GRCm39)		probably null	Het
Fubp1	T	A	3: 151,925,841 (GRCm39)	Y264*	probably null	Het
Gbp5	T	A	3: 142,212,680 (GRCm39)		probably null	Het
Gm7094	A	G	1: 21,342,958 (GRCm39)		noncoding transcript	Het
Gpr55	A	G	1: 85,868,858 (GRCm39)	V241A	probably benign	Het
Impa1	C	T	3: 10,394,020 (GRCm39)	A16T	probably damaging	Het
Llgl2	T	C	11: 115,735,680 (GRCm39)	L92P	probably damaging	Het
Ltbp2	T	A	12: 84,833,132 (GRCm39)	Q1472L	probably benign	Het
Lyplal1	A	T	1: 185,820,943 (GRCm39)	M168K	probably benign	Het
Macc1	A	T	12: 119,410,815 (GRCm39)	R528*	probably null	Het
Mdm1	T	A	10: 118,002,585 (GRCm39)	D635E	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrpl23	C	T	7: 142,088,851 (GRCm39)	R69W	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nr0b2	A	G	4: 133,281,049 (GRCm39)	Q105R	probably damaging	Het
Or8b53	T	A	9: 38,667,484 (GRCm39)	S167T	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Pcdhb14	A	T	18: 37,581,542 (GRCm39)		probably null	Het
Plxna1	A	G	6: 89,310,001 (GRCm39)	W1055R	probably damaging	Het
Pramel22	T	A	4: 143,381,081 (GRCm39)	H314L	probably benign	Het
Prdm1	C	T	10: 44,316,087 (GRCm39)	R716Q	probably damaging	Het
Proser1	C	A	3: 53,388,038 (GRCm39)	Q909K	possibly damaging	Het
Pus10	T	A	11: 23,617,358 (GRCm39)	C24S	probably damaging	Het
Rpl27	T	A	11: 101,336,146 (GRCm39)	F69I	possibly damaging	Het
Sctr	A	T	1: 119,983,124 (GRCm39)	I325F	probably damaging	Het
Slc49a4	G	A	16: 35,539,684 (GRCm39)	T379I	possibly damaging	Het
Slc5a3	G	A	16: 91,874,581 (GRCm39)	V213I	possibly damaging	Het
Spib	G	T	7: 44,179,324 (GRCm39)	D28E	probably damaging	Het
Spic	T	C	10: 88,511,579 (GRCm39)	S226G	possibly damaging	Het
Tet1	T	A	10: 62,676,058 (GRCm39)	T673S	probably benign	Het
Tph1	A	G	7: 46,297,020 (GRCm39)	F392L	probably damaging	Het
Ttc28	T	C	5: 111,373,500 (GRCm39)	S979P	probably benign	Het
Unc79	T	C	12: 103,122,812 (GRCm39)	L2110P	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Zfp467	T	C	6: 48,415,615 (GRCm39)	T346A	probably benign	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
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
R5382:Cyp7b1	UTSW	3	18,151,385 (GRCm39)	missense	possibly damaging	0.53
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'- GGACCCAGCCAAGGATCAGTGC -3'
(R):5'- AGGCAAACCTTTGGATGCTCTTCTG -3'

Sequencing Primer
(F):5'- AAATATCTTGTTTTACCACCTCAGC -3'
(R):5'- TTGAGTCCCAACTGCTAAAAATC -3'

Posted On

2013-04-16