Mutagenetix > Incidental Mutation

Incidental Mutation 'R8289:Cyp7a1'

638559

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

067711-MU

Accession Numbers

Essential gene?

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

Stock #

R8289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6265612-6275632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6268295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 477 (P477S)

Ref Sequence

ENSEMBL: ENSMUSP00000029905 (fasta)

Gene Model

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

AlphaFold

Q64505

Predicted Effect

probably damaging
Transcript: ENSMUST00000029905
AA Change: P477S

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

SMART Domains

Protein: ENSMUSP00000029905
Gene: ENSMUSG00000028240
AA Change: P477S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	C	11: 109,927,515 (GRCm39)		probably benign	Het
Adamts3	C	A	5: 89,923,282 (GRCm39)	D175Y	possibly damaging	Het
Adra1b	G	A	11: 43,726,315 (GRCm39)	P201S	probably damaging	Het
Ahnak2	A	G	12: 112,742,242 (GRCm39)	V610A	possibly damaging	Het
Ap5s1	A	C	2: 131,054,379 (GRCm39)	H62P	probably benign	Het
Apeh	A	G	9: 107,963,444 (GRCm39)	S593P	probably damaging	Het
Arhgap24	T	C	5: 103,028,692 (GRCm39)	V289A	possibly damaging	Het
Atoh1	A	G	6: 64,706,893 (GRCm39)	E196G	probably damaging	Het
Atp1b3	G	A	9: 96,215,602 (GRCm39)	S271L	probably benign	Het
Atp6v0a1	A	G	11: 100,924,931 (GRCm39)	R339G	probably damaging	Het
Calb2	T	C	8: 110,894,690 (GRCm39)	H27R	possibly damaging	Het
Camkk2	A	C	5: 122,894,689 (GRCm39)	L201R	probably damaging	Het
Car15	A	G	16: 17,654,580 (GRCm39)		probably null	Het
Cecr2	A	G	6: 120,735,077 (GRCm39)	N771S	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Csmd1	T	A	8: 16,108,716 (GRCm39)	I1896F	probably damaging	Het
Cubn	C	T	2: 13,491,613 (GRCm39)	V145I	probably benign	Het
Cuedc1	G	A	11: 88,073,381 (GRCm39)	S182N	probably benign	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Dcaf17	T	A	2: 70,885,718 (GRCm39)	W16R		Het
Dhx8	T	A	11: 101,631,571 (GRCm39)	M388K	probably benign	Het
Dnah14	T	A	1: 181,543,780 (GRCm39)	Y2453*	probably null	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,360 (GRCm39)	E148K	probably benign	Het
Hectd4	A	G	5: 121,404,424 (GRCm39)	T434A	possibly damaging	Het
Ide	A	G	19: 37,290,952 (GRCm39)	L368P		Het
Ide	G	C	19: 37,290,953 (GRCm39)	L368V	probably null	Het
Ifi206	T	C	1: 173,308,032 (GRCm39)	I655V		Het
Insrr	A	G	3: 87,721,501 (GRCm39)	M1136V	probably damaging	Het
Kcne2	A	G	16: 92,093,707 (GRCm39)	E78G	probably damaging	Het
Lrrc23	A	T	6: 124,755,267 (GRCm39)	L90H	probably damaging	Het
Magel2	A	C	7: 62,028,875 (GRCm39)	Q593P	unknown	Het
Mrgpra3	G	A	7: 47,239,468 (GRCm39)	H153Y	possibly damaging	Het
Msln	A	G	17: 25,967,880 (GRCm39)	V595A	possibly damaging	Het
Mvb12a	T	C	8: 71,995,703 (GRCm39)		probably null	Het
Myo7a	T	G	7: 97,726,376 (GRCm39)	M966L	probably benign	Het
Ncoa5	C	T	2: 164,854,982 (GRCm39)	D47N	possibly damaging	Het
Neurl4	T	A	11: 69,800,206 (GRCm39)		probably null	Het
Or1e29	T	A	11: 73,667,839 (GRCm39)	M105L	probably benign	Het
Or4d1	T	C	11: 87,805,589 (GRCm39)	T48A	probably benign	Het
Or5p75-ps1	T	A	7: 108,108,125 (GRCm39)	H287Q	unknown	Het
Or8b37	T	A	9: 37,959,000 (GRCm39)	C161S	probably benign	Het
Osbpl7	T	A	11: 96,947,405 (GRCm39)	S480T	probably benign	Het
Podnl1	T	C	8: 84,858,552 (GRCm39)	L484P		Het
Polr3gl	G	T	3: 96,489,228 (GRCm39)		probably benign	Het
Prkaa1	G	T	15: 5,206,563 (GRCm39)	V438L	possibly damaging	Het
Prune2	A	T	19: 17,100,373 (GRCm39)	H1959L	probably benign	Het
Rad50	A	T	11: 53,589,685 (GRCm39)	L172*	probably null	Het
Samsn1	C	A	16: 75,685,684 (GRCm39)	G25W	probably damaging	Het
Sbno1	T	G	5: 124,542,068 (GRCm39)	L362F	probably damaging	Het
Slc26a6	G	A	9: 108,733,230 (GRCm39)	R43H	probably benign	Het
Slc35f5	T	G	1: 125,490,252 (GRCm39)	Y49*	probably null	Het
Slc41a2	T	C	10: 83,137,044 (GRCm39)	I288V	probably benign	Het
Slc9c1	A	G	16: 45,403,344 (GRCm39)	M804V	probably benign	Het
Smc6	T	A	12: 11,324,052 (GRCm39)	S66T	probably benign	Het
Ssh1	T	C	5: 114,080,445 (GRCm39)	D995G	probably benign	Het
Stk11	G	T	10: 79,961,740 (GRCm39)		probably benign	Het
Sycp1	A	G	3: 102,748,353 (GRCm39)	I813T	probably benign	Het
Tmem121b	A	T	6: 120,469,722 (GRCm39)	S332T	possibly damaging	Het
Treml4	A	C	17: 48,581,456 (GRCm39)	I244L	probably benign	Het
Unc13b	T	A	4: 43,172,524 (GRCm39)	C1117*	probably null	Het
Wdr35	A	G	12: 9,058,020 (GRCm39)	I526V	probably benign	Het
Zap70	T	C	1: 36,820,218 (GRCm39)	W500R	probably damaging	Het
Zfr	G	T	15: 12,135,357 (GRCm39)	V49F	noncoding transcript	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
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
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'- AAGTGATGAAACTCAGGCCCC -3'
(R):5'- TGGGAAAGCAAAGACCACCTTC -3'

Sequencing Primer
(F):5'- CTAATACAGCTACTAGGGGGCTTC -3'
(R):5'- GCAAAGACCACCTTCTATAGAAATGG -3'

Posted On

2020-07-28