Mutagenetix > Incidental Mutation

Incidental Mutation 'R5613:Cyp7a1'

438072

Institutional Source

Beutler Lab

Gene Symbol

Cyp7a1

Ensembl Gene

ENSMUSG00000028240

Gene Name

cytochrome P450, family 7, subfamily a, polypeptide 1

Synonyms

cholesterol 7 alpha hydroxylase

MMRRC Submission

043274-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R5613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6265612-6275632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6272799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 138 (L138Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029905]

AlphaFold

Q64505

Predicted Effect

probably damaging
Transcript: ENSMUST00000029905
AA Change: L138Q

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

SMART Domains

Protein: ENSMUSP00000029905
Gene: ENSMUSG00000028240
AA Change: L138Q

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:p450	32	497	2.3e-87	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147346

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.9%
20x: 97.0%

Validation Efficiency

98% (59/60)

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 first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for disruption of this gene experience severe neonatal and postnatal lethality. Supplementation of the maternal diet with fat soluble vitamins and cholic acid starting before birth alleviates much of the phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,465,346 (GRCm39)		probably benign	Het
Adamts16	A	C	13: 70,878,253 (GRCm39)	S1171A	probably benign	Het
Agtr1b	T	C	3: 20,370,424 (GRCm39)	T61A	probably damaging	Het
Ankrd35	A	G	3: 96,590,334 (GRCm39)	D257G	possibly damaging	Het
Arhgef5	A	G	6: 43,250,997 (GRCm39)	T583A	probably benign	Het
Camk2g	T	C	14: 20,787,559 (GRCm39)	N423S	probably damaging	Het
Cand1	A	T	10: 119,051,228 (GRCm39)	H293Q	possibly damaging	Het
Chd4	A	C	6: 125,097,509 (GRCm39)	E1359D	probably damaging	Het
Creb3	T	C	4: 43,566,196 (GRCm39)	C264R	probably benign	Het
Cul9	T	C	17: 46,814,770 (GRCm39)	D2171G	probably damaging	Het
Dclk1	A	G	3: 55,424,360 (GRCm39)	T380A	probably benign	Het
Dnm2	T	A	9: 21,383,963 (GRCm39)	I248N	probably damaging	Het
Dtx4	A	T	19: 12,462,767 (GRCm39)	S337R	probably damaging	Het
Dus3l	T	C	17: 57,074,882 (GRCm39)	S335P	possibly damaging	Het
Dync1h1	T	C	12: 110,599,254 (GRCm39)	Y1870H	possibly damaging	Het
Eral1	G	A	11: 77,965,230 (GRCm39)		probably benign	Het
Eya1	G	T	1: 14,373,153 (GRCm39)		probably benign	Het
Fbxw28	T	A	9: 109,167,601 (GRCm39)	Y52F	probably benign	Het
Fcgbpl1	A	T	7: 27,842,303 (GRCm39)		probably benign	Het
Gm5600	A	G	7: 113,307,293 (GRCm39)		noncoding transcript	Het
Gm5901	A	G	7: 105,026,532 (GRCm39)	Y100C	probably damaging	Het
Haus3	A	G	5: 34,325,173 (GRCm39)	L162P	probably damaging	Het
Hivep2	T	C	10: 14,015,239 (GRCm39)	I1802T	probably damaging	Het
Klf7	G	A	1: 64,081,555 (GRCm39)	R258C	probably damaging	Het
Mapt	A	G	11: 104,193,216 (GRCm39)	N66D	possibly damaging	Het
Mypop	G	A	7: 18,725,901 (GRCm39)		probably benign	Het
Nefm	T	A	14: 68,358,583 (GRCm39)	K484*	probably null	Het
Nup153	A	C	13: 46,840,747 (GRCm39)	S954A	possibly damaging	Het
Or13c7	G	A	4: 43,854,528 (GRCm39)	C73Y	probably damaging	Het
Or4a78	T	C	2: 89,497,388 (GRCm39)	N281D	probably damaging	Het
Pkn1	C	T	8: 84,404,390 (GRCm39)	A543T	probably benign	Het
Ppp1r11	C	A	17: 37,262,380 (GRCm39)	G7W	probably damaging	Het
Prss52	A	T	14: 64,346,951 (GRCm39)	N42Y	possibly damaging	Het
Ptger2	T	G	14: 45,226,960 (GRCm39)	V180G	possibly damaging	Het
Rep15	G	T	6: 146,934,352 (GRCm39)	V64F	possibly damaging	Het
Rfpl4b	T	A	10: 38,697,373 (GRCm39)	Q76L	probably benign	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Slc16a12	T	C	19: 34,652,358 (GRCm39)	M263V	probably benign	Het
Spdye4c	A	T	2: 128,434,889 (GRCm39)	Q95L	possibly damaging	Het
Srfbp1	G	A	18: 52,616,717 (GRCm39)	D81N	probably damaging	Het
Sspo	G	A	6: 48,431,978 (GRCm39)	V731M	possibly damaging	Het
Susd6	G	T	12: 80,915,308 (GRCm39)	G98C	probably damaging	Het
Tlr4	T	A	4: 66,759,122 (GRCm39)	S638R	possibly damaging	Het
Tnfsf13	G	T	11: 69,574,821 (GRCm39)		probably null	Het
Tnfsf18	A	G	1: 161,331,297 (GRCm39)	N149S	possibly damaging	Het
Tor1aip1	T	C	1: 155,909,499 (GRCm39)	K176E	probably damaging	Het
Trav10	A	T	14: 53,743,483 (GRCm39)	H28L	probably benign	Het
Trim30a	T	A	7: 104,079,389 (GRCm39)	K155N	probably damaging	Het
Trpm1	A	G	7: 63,858,159 (GRCm39)	D333G	probably damaging	Het
Tssk1	T	C	16: 17,712,364 (GRCm39)	S50P	probably benign	Het
Ttll9	CAAA	CAA	2: 152,815,521 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,739,996 (GRCm39)		probably benign	Het
Vmn2r115	A	T	17: 23,564,307 (GRCm39)	I160L	probably benign	Het
Wdr95	A	T	5: 149,507,935 (GRCm39)	D396V	probably damaging	Het
Zbtb47	T	A	9: 121,596,585 (GRCm39)	I647N	probably damaging	Het
Zfp799	T	C	17: 33,038,964 (GRCm39)	Y433C	probably damaging	Het

Other mutations in Cyp7a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01298:Cyp7a1	APN	4	6,275,517 (GRCm39)	missense	probably damaging	1.00
IGL01577:Cyp7a1	APN	4	6,273,618 (GRCm39)	missense	probably damaging	1.00
IGL01723:Cyp7a1	APN	4	6,272,442 (GRCm39)	missense	probably damaging	1.00
IGL02602:Cyp7a1	APN	4	6,272,871 (GRCm39)	missense	possibly damaging	0.88
IGL03302:Cyp7a1	APN	4	6,273,801 (GRCm39)	missense	probably benign	0.05
R1017:Cyp7a1	UTSW	4	6,272,307 (GRCm39)	missense	probably damaging	1.00
R1737:Cyp7a1	UTSW	4	6,272,848 (GRCm39)	missense	probably benign	0.00
R2044:Cyp7a1	UTSW	4	6,275,492 (GRCm39)	missense	probably null	1.00
R2326:Cyp7a1	UTSW	4	6,268,396 (GRCm39)	missense	probably benign
R2867:Cyp7a1	UTSW	4	6,272,493 (GRCm39)	missense	probably damaging	0.99
R2867:Cyp7a1	UTSW	4	6,272,493 (GRCm39)	missense	probably damaging	0.99
R3438:Cyp7a1	UTSW	4	6,272,769 (GRCm39)	missense	probably damaging	1.00
R4181:Cyp7a1	UTSW	4	6,271,205 (GRCm39)	missense	probably benign	0.09
R4844:Cyp7a1	UTSW	4	6,273,655 (GRCm39)	missense	probably damaging	1.00
R5184:Cyp7a1	UTSW	4	6,271,207 (GRCm39)	missense	probably benign
R5371:Cyp7a1	UTSW	4	6,268,378 (GRCm39)	missense	probably damaging	1.00
R5682:Cyp7a1	UTSW	4	6,268,429 (GRCm39)	missense	probably benign	0.28
R5987:Cyp7a1	UTSW	4	6,268,476 (GRCm39)	missense	probably benign	0.05
R5995:Cyp7a1	UTSW	4	6,272,371 (GRCm39)	missense	possibly damaging	0.74
R6128:Cyp7a1	UTSW	4	6,272,788 (GRCm39)	missense	possibly damaging	0.80
R6552:Cyp7a1	UTSW	4	6,272,361 (GRCm39)	nonsense	probably null
R6860:Cyp7a1	UTSW	4	6,272,587 (GRCm39)	missense	probably damaging	1.00
R7032:Cyp7a1	UTSW	4	6,268,463 (GRCm39)	missense	possibly damaging	0.94
R7631:Cyp7a1	UTSW	4	6,272,763 (GRCm39)	missense	possibly damaging	0.89
R7884:Cyp7a1	UTSW	4	6,272,697 (GRCm39)	missense	probably benign	0.04
R8289:Cyp7a1	UTSW	4	6,268,295 (GRCm39)	missense	probably damaging	1.00
R8681:Cyp7a1	UTSW	4	6,271,207 (GRCm39)	missense	probably benign
R8721:Cyp7a1	UTSW	4	6,268,273 (GRCm39)	missense	probably damaging	1.00
R8931:Cyp7a1	UTSW	4	6,271,238 (GRCm39)	missense	possibly damaging	0.57
R9613:Cyp7a1	UTSW	4	6,272,587 (GRCm39)	missense	probably damaging	1.00
R9748:Cyp7a1	UTSW	4	6,269,216 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCCGGAAATACTTGGTC -3'
(R):5'- ATCCTATTAGGGAAGGCCAGGC -3'

Sequencing Primer
(F):5'- GTGCCGGAAATACTTGGTCAAATTG -3'
(R):5'- CCAGGCAGAGAAGTATGAATGTATTC -3'

Posted On

2016-10-26