Mutagenetix > Incidental Mutation

Incidental Mutation 'R5371:Cyp7a1'

428705

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R5371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6265612-6275632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6268378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 449 (F449S)

Ref Sequence

ENSEMBL: ENSMUSP00000029905 (fasta)

Gene Model

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

AlphaFold

Q64505

Predicted Effect

probably damaging
Transcript: ENSMUST00000029905
AA Change: F449S

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

SMART Domains

Protein: ENSMUSP00000029905
Gene: ENSMUSG00000028240
AA Change: F449S

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

0.8754

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (71/74)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,261,918 (GRCm39)		noncoding transcript	Het
Arpp21	G	A	9: 111,895,000 (GRCm39)	P755S	probably benign	Het
Aspm	C	T	1: 139,398,279 (GRCm39)	Q982*	probably null	Het
Atp5f1e	C	T	2: 174,304,319 (GRCm39)		probably benign	Het
BC024139	A	G	15: 76,004,886 (GRCm39)	*598Q	probably null	Het
Bcl6	T	A	16: 23,788,736 (GRCm39)	D544V	possibly damaging	Het
Ccdc9	A	T	7: 16,014,655 (GRCm39)	D195E	probably damaging	Het
Cd38	A	G	5: 44,026,225 (GRCm39)	N3S	probably benign	Het
Cfap46	A	T	7: 139,212,097 (GRCm39)		probably null	Het
Cmtr2	T	C	8: 110,948,044 (GRCm39)	F118S	probably damaging	Het
Dnah10	C	T	5: 124,820,693 (GRCm39)	A509V	probably benign	Het
Dsp	A	T	13: 38,378,865 (GRCm39)	Q1271L	probably damaging	Het
Edar	A	C	10: 58,443,274 (GRCm39)	V284G	possibly damaging	Het
Fdft1	A	G	14: 63,388,750 (GRCm39)	V294A	probably damaging	Het
Gba1	T	A	3: 89,112,778 (GRCm39)	V140E	probably benign	Het
Gm12185	A	T	11: 48,806,566 (GRCm39)	S208R	probably benign	Het
Gm21028	C	A	7: 42,227,946 (GRCm39)	E23*	probably null	Het
Gm6871	A	G	7: 41,222,992 (GRCm39)	L32P	probably benign	Het
Hhip	C	T	8: 80,724,220 (GRCm39)	V341M	probably damaging	Het
Kcnq2	C	A	2: 180,776,813 (GRCm39)	V25L	probably damaging	Het
Krit1	C	A	5: 3,881,551 (GRCm39)	H548N	probably damaging	Het
Kynu	C	T	2: 43,479,406 (GRCm39)	A100V	probably benign	Het
Lpp	T	C	16: 24,708,554 (GRCm39)	C295R	probably damaging	Het
Mdp1	A	G	14: 55,897,806 (GRCm39)	V9A	probably damaging	Het
Mllt3	T	C	4: 87,759,093 (GRCm39)	I318M	possibly damaging	Het
Mpzl3	A	G	9: 44,966,510 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mup8	A	G	4: 60,222,423 (GRCm39)	V16A	probably benign	Het
Myh13	T	A	11: 67,235,616 (GRCm39)		probably null	Het
Myh4	A	T	11: 67,150,150 (GRCm39)	Q1869L	probably damaging	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or13c7b	A	T	4: 43,821,058 (GRCm39)	M101K	probably damaging	Het
Or51h7	T	A	7: 102,591,719 (GRCm39)	M22L	probably benign	Het
Or5d43	C	A	2: 88,104,976 (GRCm39)	C139F	probably damaging	Het
Parp11	T	C	6: 127,447,755 (GRCm39)	F30L	probably damaging	Het
Pcdhgc3	A	T	18: 37,941,507 (GRCm39)	D636V	possibly damaging	Het
Ppp1cb	T	C	5: 32,643,332 (GRCm39)	F234L	probably damaging	Het
Rras2	A	T	7: 113,649,572 (GRCm39)	V164E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Scg3	T	C	9: 75,568,583 (GRCm39)	T390A	probably damaging	Het
Shh	C	A	5: 28,671,688 (GRCm39)	C25F	probably damaging	Het
Slc24a1	T	C	9: 64,856,550 (GRCm39)	K119R	unknown	Het
Speg	G	T	1: 75,408,037 (GRCm39)	R3244L	possibly damaging	Het
Spns1	A	G	7: 125,972,936 (GRCm39)		probably benign	Het
Sptbn4	A	C	7: 27,059,166 (GRCm39)		probably null	Het
Stap1	T	A	5: 86,244,375 (GRCm39)	F214Y	possibly damaging	Het
Tcerg1	T	A	18: 42,652,600 (GRCm39)	M76K	unknown	Het
Tjp1	A	T	7: 64,963,059 (GRCm39)	Y959*	probably null	Het
Tmprss11e	A	T	5: 86,875,225 (GRCm39)	C14S	probably benign	Het
Tnfrsf14	T	C	4: 155,006,934 (GRCm39)		probably null	Het
Tsfm	A	C	10: 126,847,512 (GRCm39)	V193G	probably benign	Het
Ube2q2l	T	A	6: 136,378,371 (GRCm39)	Y153F	probably benign	Het
Ush2a	A	T	1: 188,175,267 (GRCm39)	I1122L	probably benign	Het
Vmn1r74	T	A	7: 11,580,984 (GRCm39)	S95T	probably damaging	Het
Vmn2r98	G	A	17: 19,290,015 (GRCm39)	C517Y	probably damaging	Het
Vstm2b	G	A	7: 40,550,702 (GRCm39)	S99N	possibly damaging	Het
Zbtb24	A	G	10: 41,327,537 (GRCm39)	N141S	probably benign	Het
Zcchc4	T	G	5: 52,942,512 (GRCm39)	C106G	probably benign	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
R5613:Cyp7a1	UTSW	4	6,272,799 (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'- GTCGTTACATCATCCAGTGTCC -3'
(R):5'- CTGAGGATGGCACGAGTACTAG -3'

Sequencing Primer
(F):5'- CTTCTTCCAACCACATATCAGTG -3'
(R):5'- TGGCACGAGTACTAGAAACTTAC -3'

Posted On

2016-09-06