Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02969:Cyp46a1'

365724

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02969

Quality Score

Status

Chromosome

Chromosomal Location

108334381-108362234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108343037 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 68 (V68A)

Ref Sequence

ENSEMBL: ENSMUSP00000152489 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021684
AA Change: V75A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021684
Gene: ENSMUSG00000021259
AA Change: V75A

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 damaging
Transcript: ENSMUST00000221708
AA Change: V68A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,220,237		probably benign	Het
1700061G19Rik	A	T	17: 56,883,751	T440S	probably damaging	Het
Akap12	T	A	10: 4,354,864	V558E	probably damaging	Het
Atg4c	T	C	4: 99,258,387		probably benign	Het
Atg7	T	A	6: 114,724,923	N673K	possibly damaging	Het
BC005561	C	T	5: 104,519,343	T577I	probably benign	Het
Brpf3	A	G	17: 28,821,305	D900G	probably benign	Het
C2cd5	T	C	6: 143,079,943	Y176C	probably damaging	Het
Cep70	A	T	9: 99,298,504	I571F	possibly damaging	Het
Cir1	C	T	2: 73,303,776	G150R	probably null	Het
Dlgap2	A	G	8: 14,831,579	T883A	possibly damaging	Het
Dnah2	C	A	11: 69,521,187	K249N	possibly damaging	Het
Dnajc11	A	G	4: 151,978,046	K434R	probably benign	Het
Eri3	A	G	4: 117,649,311	Y279C	probably damaging	Het
Gm3259	C	T	5: 95,341,399	P234S	probably benign	Het
Hectd4	T	A	5: 121,365,053	Y4362N	possibly damaging	Het
Ilk	A	G	7: 105,740,340	K85E	possibly damaging	Het
Insrr	G	T	3: 87,814,191	G1135*	probably null	Het
Itgax	T	A	7: 128,149,123	M1108K	probably benign	Het
Mpzl3	C	T	9: 45,068,216	T155I	probably benign	Het
Olfr1308	A	T	2: 111,960,567	C169S	probably damaging	Het
Olfr805	A	T	10: 129,723,196	M116K	probably damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polr2h	A	G	16: 20,719,057	Y68C	probably damaging	Het
Rhobtb3	A	G	13: 75,943,431	S2P	probably damaging	Het
Slc24a5	T	C	2: 125,083,227	S263P	probably damaging	Het
Spz1	T	G	13: 92,575,343	K208N	possibly damaging	Het
Tbpl2	C	A	2: 24,091,093	C231F	probably damaging	Het
Tdrd6	T	C	17: 43,627,549	I869M	probably damaging	Het
Tesk1	G	A	4: 43,447,027	E472K	possibly damaging	Het
Tesk1	C	A	4: 43,447,026	C471*	probably null	Het
Tmem213	T	A	6: 38,115,666	V111E	probably damaging	Het
Tmem232	A	T	17: 65,256,563	Y612N	possibly damaging	Het
Ttn	T	C	2: 76,899,363		probably benign	Het
Vmn2r113	G	A	17: 22,958,617	V792I	probably benign	Het
Wdfy1	A	G	1: 79,713,871	V273A	probably benign	Het
Wwp1	A	G	4: 19,623,200	S762P	probably damaging	Het

Other mutations in Cyp46a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Cyp46a1	APN	12	108351975	missense	possibly damaging	0.78
IGL01623:Cyp46a1	APN	12	108351975	missense	possibly damaging	0.78
IGL01804:Cyp46a1	APN	12	108355486	missense	probably benign	0.44
IGL02069:Cyp46a1	APN	12	108346135	missense	probably benign	0.18
IGL02900:Cyp46a1	APN	12	108343091	missense	probably damaging	1.00
R0138:Cyp46a1	UTSW	12	108351211	missense	probably damaging	1.00
R1572:Cyp46a1	UTSW	12	108351939	missense	probably null	0.97
R1879:Cyp46a1	UTSW	12	108353126	missense	probably damaging	1.00
R2280:Cyp46a1	UTSW	12	108355471	missense	probably damaging	1.00
R3879:Cyp46a1	UTSW	12	108358130	missense	probably benign	0.14
R4674:Cyp46a1	UTSW	12	108358086	missense	probably damaging	1.00
R4717:Cyp46a1	UTSW	12	108352026	critical splice donor site	probably null
R6224:Cyp46a1	UTSW	12	108361560	missense	probably damaging	1.00
R6473:Cyp46a1	UTSW	12	108355475	missense	possibly damaging	0.87
R6539:Cyp46a1	UTSW	12	108353157	splice site	probably null

Posted On

2015-12-18