Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Cyp39a1'

617492

Institutional Source

Beutler Lab

Gene Symbol

Cyp39a1

Ensembl Gene

ENSMUSG00000023963

Gene Name

cytochrome P450, family 39, subfamily a, polypeptide 1

Synonyms

oxysterol 7-alpha-hydroxylase

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43667425-43751431 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43746577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 436 (Y436H)

Ref Sequence

ENSEMBL: ENSMUSP00000130073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170988]

AlphaFold

Q9JKJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000170988
AA Change: Y436H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963
AA Change: Y436H

Domain	Start	End	E-Value	Type
Pfam:p450	32	464	1.9e-52	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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 protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp3a25	T	A	5: 145,977,668	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		probably null	Het

Other mutations in Cyp39a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Cyp39a1	APN	17	43701543	missense	probably benign	0.01
IGL01070:Cyp39a1	APN	17	43683022	missense	probably benign	0.00
IGL01606:Cyp39a1	APN	17	43746618	splice site	probably benign
IGL01769:Cyp39a1	APN	17	43749915	missense	possibly damaging	0.53
IGL01916:Cyp39a1	APN	17	43731050	missense	probably damaging	1.00
IGL02374:Cyp39a1	APN	17	43749981	utr 3 prime	probably benign
IGL02402:Cyp39a1	APN	17	43691722	missense	probably benign	0.07
IGL03097:Cyp39a1	UTSW	17	43683050	nonsense	probably null
R0230:Cyp39a1	UTSW	17	43732012	missense	probably damaging	1.00
R1244:Cyp39a1	UTSW	17	43749945	missense	probably benign	0.13
R1572:Cyp39a1	UTSW	17	43680129	missense	probably damaging	1.00
R1656:Cyp39a1	UTSW	17	43667619	missense	possibly damaging	0.74
R4036:Cyp39a1	UTSW	17	43676940	missense	probably damaging	0.97
R4308:Cyp39a1	UTSW	17	43730964	splice site	probably null
R5081:Cyp39a1	UTSW	17	43746597	missense	probably damaging	1.00
R5197:Cyp39a1	UTSW	17	43746538	missense	possibly damaging	0.67
R5405:Cyp39a1	UTSW	17	43676940	missense	probably damaging	1.00
R5566:Cyp39a1	UTSW	17	43685208	missense	possibly damaging	0.92
R5578:Cyp39a1	UTSW	17	43680140	missense	possibly damaging	0.91
R6045:Cyp39a1	UTSW	17	43731991	missense	probably damaging	1.00
R6495:Cyp39a1	UTSW	17	43691694	missense	probably benign	0.41
R7191:Cyp39a1	UTSW	17	43731019	nonsense	probably null
R7431:Cyp39a1	UTSW	17	43683015	missense	probably benign
R7522:Cyp39a1	UTSW	17	43667479	start gained	probably benign
R7620:Cyp39a1	UTSW	17	43725653	splice site	probably null
R8143:Cyp39a1	UTSW	17	43725626	missense	probably benign	0.39
R8483:Cyp39a1	UTSW	17	43683007	missense	probably benign	0.01
R8549:Cyp39a1	UTSW	17	43730995	missense	possibly damaging	0.95
R8964:Cyp39a1	UTSW	17	43691667	missense	probably benign	0.02
R9730:Cyp39a1	UTSW	17	43680138	missense	probably benign	0.01
Z1176:Cyp39a1	UTSW	17	43725577	missense	probably benign	0.01
Z1176:Cyp39a1	UTSW	17	43731048	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAAGCAATGGAGCCATGCC -3'
(R):5'- TGCATCTACCTGGAGTTAAACC -3'

Sequencing Primer
(F):5'- GCCATGCCAACCACTCAGTG -3'
(R):5'- CTACCTGGAGTTAAACCTGAGTTG -3'

Posted On

2020-01-23