Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01623:Cyp46a1'

278706

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp46a1

Ensembl Gene

ENSMUSG00000021259

Gene Name

cytochrome P450, family 46, subfamily a, polypeptide 1

Synonyms

cholestrol 24-hydroxylase, Cyp46

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01623

Quality Score

Status

Chromosome

Chromosomal Location

108300640-108328493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108318234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 215 (V215A)

Ref Sequence

ENSEMBL: ENSMUSP00000021684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021684] [ENSMUST00000221708]

AlphaFold

Q9WVK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021684
AA Change: V215A

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021684
Gene: ENSMUSG00000021259
AA Change: V215A

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:p450	34	484	1.7e-86	PFAM
low complexity region	493	499	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222902

Coding Region Coverage

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 expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygouse for deletions in this gene are essentially normal. Levels of 24(s)-hydroxycholesterol are reduced in serum and in the brain. Cholesterol synthesis in the brain is reduced 40%. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	G	A	14: 35,532,024 (GRCm39)	Q184*	probably null	Het
A1bg	A	C	15: 60,789,742 (GRCm39)	I502S	possibly damaging	Het
Actl11	T	C	9: 107,805,775 (GRCm39)	S33P	probably benign	Het
Aftph	G	T	11: 20,659,632 (GRCm39)	D730E	probably damaging	Het
Arhgap29	A	G	3: 121,767,773 (GRCm39)		probably benign	Het
Brf1	T	G	12: 112,924,795 (GRCm39)	E643A	probably benign	Het
Caskin1	G	T	17: 24,722,914 (GRCm39)		probably null	Het
Ccnjl	T	C	11: 43,476,154 (GRCm39)	V259A	probably benign	Het
Ccser2	G	T	14: 36,662,920 (GRCm39)	T88K	probably benign	Het
Cdk17	T	C	10: 93,074,824 (GRCm39)		probably benign	Het
Clec16a	G	A	16: 10,395,774 (GRCm39)	S309N	possibly damaging	Het
Cpxm1	C	A	2: 130,233,191 (GRCm39)	A633S	probably benign	Het
Ctnnbl1	A	T	2: 157,661,468 (GRCm39)	N326I	probably damaging	Het
Dnah6	T	C	6: 73,121,701 (GRCm39)	Y1427C	probably damaging	Het
Dpy19l3	G	A	7: 35,422,169 (GRCm39)	T228I	probably damaging	Het
Fam131c	C	T	4: 141,109,761 (GRCm39)	A131V	possibly damaging	Het
Fat1	A	G	8: 45,482,592 (GRCm39)	T3061A	possibly damaging	Het
Fgl2	T	A	5: 21,578,175 (GRCm39)	L154H	possibly damaging	Het
Fhod3	T	A	18: 25,155,924 (GRCm39)	I514K	probably benign	Het
Frem3	A	G	8: 81,340,544 (GRCm39)	T946A	probably benign	Het
Gan	T	A	8: 117,913,917 (GRCm39)	V105D	probably damaging	Het
Garin5b	A	G	7: 4,761,722 (GRCm39)	V330A	probably benign	Het
Gm28043	T	C	17: 29,895,222 (GRCm39)	F134L	probably benign	Het
Gramd1c	A	G	16: 43,811,061 (GRCm39)	V221A	probably damaging	Het
Hacd1	A	G	2: 14,040,667 (GRCm39)	V196A	probably benign	Het
Kcna6	C	A	6: 126,715,576 (GRCm39)	V438L	probably damaging	Het
Klhl41	T	C	2: 69,508,582 (GRCm39)	V512A	probably benign	Het
Lrfn1	A	G	7: 28,166,111 (GRCm39)	T502A	probably damaging	Het
Notch3	A	T	17: 32,377,844 (GRCm39)	F105I	possibly damaging	Het
Or4b13	T	G	2: 90,082,953 (GRCm39)	K126N	probably damaging	Het
Or5m10	A	T	2: 85,717,306 (GRCm39)	H54L	probably benign	Het
P3h1	C	T	4: 119,092,480 (GRCm39)	T171I	probably damaging	Het
Pcdhb1	A	G	18: 37,399,366 (GRCm39)	E439G	possibly damaging	Het
Pik3c3	A	T	18: 30,423,578 (GRCm39)	K225*	probably null	Het
Pik3c3	A	G	18: 30,426,102 (GRCm39)		probably benign	Het
Pik3r5	T	A	11: 68,377,452 (GRCm39)		probably null	Het
Pnpt1	A	C	11: 29,098,272 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,789,422 (GRCm39)	V495D	probably damaging	Het
Rbfox3	C	A	11: 118,396,440 (GRCm39)		probably benign	Het
Sec14l2	G	A	11: 4,053,966 (GRCm39)	P234S	possibly damaging	Het
Sec16a	A	C	2: 26,328,915 (GRCm39)	D1033E	probably benign	Het
Septin14	A	G	5: 129,763,019 (GRCm39)	V357A	probably damaging	Het
Setx	T	C	2: 29,053,021 (GRCm39)	V2095A	possibly damaging	Het
Sf3a3	C	T	4: 124,612,136 (GRCm39)	T131I	possibly damaging	Het
Snrpa	A	T	7: 26,892,395 (GRCm39)	M55K	probably benign	Het
Swt1	G	T	1: 151,286,760 (GRCm39)	T244N	probably benign	Het
Tbl1xr1	A	G	3: 22,246,238 (GRCm39)	T253A	probably benign	Het
Tst	G	T	15: 78,283,964 (GRCm39)	R288S	probably benign	Het
Vmn2r60	A	G	7: 41,785,910 (GRCm39)	I238V	probably benign	Het
Zbtb14	A	G	17: 69,695,184 (GRCm39)	K294R	probably benign	Het
Zfp710	T	A	7: 79,730,871 (GRCm39)	V16E	probably damaging	Het
Zfpm2	A	G	15: 40,965,320 (GRCm39)	T602A	probably benign	Het
Zfr2	G	A	10: 81,087,193 (GRCm39)	M850I	probably benign	Het

Other mutations in Cyp46a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Cyp46a1	APN	12	108,318,234 (GRCm39)	missense	possibly damaging	0.78
IGL01804:Cyp46a1	APN	12	108,321,745 (GRCm39)	missense	probably benign	0.44
IGL02069:Cyp46a1	APN	12	108,312,394 (GRCm39)	missense	probably benign	0.18
IGL02900:Cyp46a1	APN	12	108,309,350 (GRCm39)	missense	probably damaging	1.00
IGL02969:Cyp46a1	APN	12	108,309,296 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Cyp46a1	UTSW	12	108,319,367 (GRCm39)	missense	probably benign	0.17
R0138:Cyp46a1	UTSW	12	108,317,470 (GRCm39)	missense	probably damaging	1.00
R1572:Cyp46a1	UTSW	12	108,318,198 (GRCm39)	missense	probably null	0.97
R1879:Cyp46a1	UTSW	12	108,319,385 (GRCm39)	missense	probably damaging	1.00
R2280:Cyp46a1	UTSW	12	108,321,730 (GRCm39)	missense	probably damaging	1.00
R3879:Cyp46a1	UTSW	12	108,324,389 (GRCm39)	missense	probably benign	0.14
R4674:Cyp46a1	UTSW	12	108,324,345 (GRCm39)	missense	probably damaging	1.00
R4717:Cyp46a1	UTSW	12	108,318,285 (GRCm39)	critical splice donor site	probably null
R6224:Cyp46a1	UTSW	12	108,327,819 (GRCm39)	missense	probably damaging	1.00
R6473:Cyp46a1	UTSW	12	108,321,734 (GRCm39)	missense	possibly damaging	0.87
R6539:Cyp46a1	UTSW	12	108,319,416 (GRCm39)	splice site	probably null
R7253:Cyp46a1	UTSW	12	108,318,255 (GRCm39)	missense	probably benign	0.16
R8208:Cyp46a1	UTSW	12	108,318,171 (GRCm39)	critical splice acceptor site	probably null
R8805:Cyp46a1	UTSW	12	108,327,462 (GRCm39)	missense	probably damaging	1.00
R8951:Cyp46a1	UTSW	12	108,312,348 (GRCm39)	missense	possibly damaging	0.90
R8992:Cyp46a1	UTSW	12	108,324,366 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-04-16