Mutagenetix > Incidental Mutation

Incidental Mutation 'R2280:Cyp46a1'

243067

Institutional Source

Beutler Lab

Gene Symbol

Cyp46a1

Ensembl Gene

ENSMUSG00000021259

Gene Name

cytochrome P450, family 46, subfamily a, polypeptide 1

Synonyms

cholestrol 24-hydroxylase, Cyp46

MMRRC Submission

040279-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108300640-108328493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108321730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 319 (S319P)

Ref Sequence

ENSEMBL: ENSMUSP00000021684 (fasta)

Gene Model

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

AlphaFold

Q9WVK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021684
AA Change: S319P

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

SMART Domains

Protein: ENSMUSP00000021684
Gene: ENSMUSG00000021259
AA Change: S319P

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,654,955 (GRCm39)	N2698S	probably damaging	Het
Ankrd37	T	C	8: 46,452,413 (GRCm39)	T19A	probably benign	Het
Anks1b	A	C	10: 90,802,164 (GRCm39)	K353N	probably damaging	Het
Ano3	T	A	2: 110,513,104 (GRCm39)	E630D	probably benign	Het
Ap3b1	A	G	13: 94,664,724 (GRCm39)	M888V	unknown	Het
Apoh	T	A	11: 108,300,006 (GRCm39)	Y218*	probably null	Het
Arhgef19	G	A	4: 140,973,827 (GRCm39)	G105S	probably benign	Het
Brd7	A	G	8: 89,069,385 (GRCm39)	S437P	probably benign	Het
Cacna2d4	A	T	6: 119,327,002 (GRCm39)	Q1089L	possibly damaging	Het
Ccdc168	T	A	1: 44,095,620 (GRCm39)	H1826L	possibly damaging	Het
Ccser1	A	T	6: 61,547,799 (GRCm39)	M49L	probably damaging	Het
Cep170	A	T	1: 176,602,071 (GRCm39)	V345E	probably benign	Het
Chaf1b	T	G	16: 93,688,459 (GRCm39)	Y185D	probably damaging	Het
Clasp1	C	T	1: 118,492,913 (GRCm39)	P1153S	probably benign	Het
Clvs2	A	T	10: 33,404,496 (GRCm39)	I240N	probably damaging	Het
Cox8c	A	T	12: 102,865,713 (GRCm39)	H30L	possibly damaging	Het
Crtac1	G	A	19: 42,272,006 (GRCm39)	L646F	unknown	Het
Dcdc5	G	A	2: 106,202,867 (GRCm39)		noncoding transcript	Het
Ddx4	T	C	13: 112,757,190 (GRCm39)	I377V	probably benign	Het
Dis3l	T	A	9: 64,225,076 (GRCm39)	N407I	possibly damaging	Het
Dysf	A	C	6: 84,041,476 (GRCm39)	T161P	probably damaging	Het
Ecsit	C	T	9: 21,987,836 (GRCm39)	V68I	possibly damaging	Het
Ei24	A	G	9: 36,693,635 (GRCm39)		probably null	Het
Fbxl19	A	T	7: 127,347,540 (GRCm39)	D32V	possibly damaging	Het
Fgd5	G	A	6: 91,965,926 (GRCm39)	V562M	possibly damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Frem2	A	G	3: 53,479,844 (GRCm39)	C1950R	probably damaging	Het
Fryl	T	C	5: 73,198,707 (GRCm39)	D2640G	possibly damaging	Het
Ganab	T	C	19: 8,886,832 (GRCm39)	V306A	probably damaging	Het
Gbx2	A	T	1: 89,858,359 (GRCm39)	V40D	probably damaging	Het
Gcc2	C	A	10: 58,105,502 (GRCm39)	T210K	probably benign	Het
Gcn1	T	A	5: 115,750,789 (GRCm39)	M1991K	probably damaging	Het
Gpr18	T	A	14: 122,150,017 (GRCm39)	T3S	probably benign	Het
Herc2	A	C	7: 55,787,019 (GRCm39)	K1621N	possibly damaging	Het
Hspg2	A	G	4: 137,249,354 (GRCm39)	E1300G	probably damaging	Het
Krtap19-5	C	T	16: 88,693,231 (GRCm39)	C27Y	unknown	Het
Lrrc3b	A	T	14: 15,358,076 (GRCm38)	L177M	probably damaging	Het
Mthfd1	T	C	12: 76,327,266 (GRCm39)	I118T	probably benign	Het
Ncoa4-ps	A	G	12: 119,226,573 (GRCm39)		noncoding transcript	Het
Nphp4	A	G	4: 152,641,500 (GRCm39)	K1094E	possibly damaging	Het
Npy1r	C	T	8: 67,156,711 (GRCm39)	L44F	possibly damaging	Het
Or10aa1	C	A	1: 173,870,087 (GRCm39)	S190R	probably benign	Het
Pcx	C	A	19: 4,654,571 (GRCm39)	R328S	probably damaging	Het
Pde6a	T	C	18: 61,395,505 (GRCm39)	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,356,311 (GRCm39)	Y209F	probably damaging	Het
Plch2	A	T	4: 155,068,766 (GRCm39)	S1182T	probably damaging	Het
Pum1	A	T	4: 130,493,322 (GRCm39)	I696F	probably damaging	Het
Pxdn	T	C	12: 30,034,905 (GRCm39)	V254A	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rsph4a	A	T	10: 33,787,595 (GRCm39)	I584L	probably benign	Het
Scamp5	A	G	9: 57,352,722 (GRCm39)	V149A	probably benign	Het
Sike1	A	G	3: 102,904,694 (GRCm39)	H134R	possibly damaging	Het
Slc12a9	A	G	5: 137,330,474 (GRCm39)	L77P	probably damaging	Het
Spmap2l	T	C	5: 77,207,214 (GRCm39)	I324T	probably damaging	Het
Taar7f	G	A	10: 23,925,417 (GRCm39)	A4T	probably benign	Het
Tmem216	T	A	19: 10,529,237 (GRCm39)	T104S	probably damaging	Het
Tpsg1	C	T	17: 25,593,016 (GRCm39)	R94C	probably damaging	Het
Utp20	A	T	10: 88,661,365 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,028,628 (GRCm39)	Q82R	probably benign	Het
Zfp12	A	G	5: 143,231,248 (GRCm39)	Y525C	probably damaging	Het
Zfp532	T	C	18: 65,757,783 (GRCm39)	V572A	probably damaging	Het
Zfyve26	T	A	12: 79,321,814 (GRCm39)	Q935L	probably damaging	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
IGL01623: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
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

Predicted Primers

PCR Primer
(F):5'- TCCTTCATATCACAGCCACAGG -3'
(R):5'- AGGGGCTTTCTCTGGAGAAG -3'

Sequencing Primer
(F):5'- TTCATATCACAGCCACAGGAGGAG -3'
(R):5'- GCTTTCTCTGGAGAAGAACATG -3'

Posted On

2014-10-16