Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Cyp46a1'

684497

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

068823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108300640-108328493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108324366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 381 (D381V)

Ref Sequence

ENSEMBL: ENSMUSP00000021684 (fasta)

Gene Model

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

AlphaFold

Q9WVK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021684
AA Change: D381V

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021684
Gene: ENSMUSG00000021259
AA Change: D381V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,328,817 (GRCm39)	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282 (GRCm38)	D4E	probably benign	Het
Atp5if1	T	C	4: 132,260,685 (GRCm39)	D34G	probably benign	Het
Bcr	T	C	10: 74,967,404 (GRCm39)	F546S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc141	A	T	2: 76,844,739 (GRCm39)	W1443R	probably damaging	Het
Chd7	A	G	4: 8,839,589 (GRCm39)	D1375G	probably damaging	Het
Chi3l1	A	T	1: 134,115,662 (GRCm39)	Q223H	probably benign	Het
Clcn2	A	T	16: 20,531,080 (GRCm39)	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,381 (GRCm39)	D464V	probably benign	Het
Crygb	T	C	1: 65,121,300 (GRCm39)	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,624,815 (GRCm39)	K438E	unknown	Het
Dhx40	A	C	11: 86,667,582 (GRCm39)		probably benign	Het
Dnase2b	G	T	3: 146,292,717 (GRCm39)	P152Q	probably damaging	Het
Duox1	A	T	2: 122,175,186 (GRCm39)	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fam168b	A	G	1: 34,858,862 (GRCm39)	F102L	probably benign	Het
Fam3b	T	A	16: 97,277,594 (GRCm39)	D128V	probably damaging	Het
Galnt11	T	G	5: 25,469,983 (GRCm39)	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,316,730 (GRCm39)	R460S	probably benign	Het
Hdhd2	A	C	18: 77,058,366 (GRCm39)	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,415,995 (GRCm39)	M189T	probably damaging	Het
Ift70a1	A	T	2: 75,810,251 (GRCm39)	C611S	probably benign	Het
Ino80	A	G	2: 119,210,059 (GRCm39)	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,274,882 (GRCm39)	T467A	probably benign	Het
Kcnh2	A	G	5: 24,536,868 (GRCm39)	S239P	probably benign	Het
Lct	T	A	1: 128,228,299 (GRCm39)	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,787,227 (GRCm39)	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,921,490 (GRCm39)	D26E	probably benign	Het
Myh1	A	T	11: 67,096,607 (GRCm39)	M333L	probably benign	Het
Neurl4	T	C	11: 69,798,958 (GRCm39)	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,295,304 (GRCm39)	V80D	probably damaging	Het
Nop9	T	C	14: 55,983,438 (GRCm39)	S70P	possibly damaging	Het
Or2t46	A	G	11: 58,471,738 (GRCm39)	S23G	probably benign	Het
Pcdhb14	G	T	18: 37,582,231 (GRCm39)	D446Y	probably damaging	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pdgfa	G	T	5: 138,971,977 (GRCm39)	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,122,307 (GRCm39)	L1133F	probably damaging	Het
Pole	A	T	5: 110,471,488 (GRCm39)	N1411Y	possibly damaging	Het
Primpol	A	G	8: 47,034,597 (GRCm39)		probably benign	Het
Psmc5	T	G	11: 106,152,787 (GRCm39)	V203G	probably damaging	Het
Ptgdr	C	T	14: 45,096,181 (GRCm39)	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,641,220 (GRCm39)	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170 (GRCm38)	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,580,907 (GRCm39)	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,296,197 (GRCm39)	T857A	probably damaging	Het
Rnf24	A	G	2: 131,155,197 (GRCm39)	F10S	possibly damaging	Het
Rreb1	C	A	13: 38,114,352 (GRCm39)	S570R	probably benign	Het
Rttn	A	G	18: 88,995,832 (GRCm39)	N205S	probably benign	Het
Rusc1	T	C	3: 88,999,365 (GRCm39)	E139G	probably benign	Het
Scn2a	A	G	2: 65,594,242 (GRCm39)	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 106,974,907 (GRCm39)	M209L	probably damaging	Het
Shank3	A	G	15: 89,432,888 (GRCm39)	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,592,514 (GRCm39)	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,313,901 (GRCm39)	W548*	probably null	Het
Srfbp1	T	A	18: 52,609,392 (GRCm39)	L59*	probably null	Het
Ss18	A	T	18: 14,803,380 (GRCm39)	S73T	probably damaging	Het
Syne1	T	C	10: 5,135,508 (GRCm39)	K189R	probably benign	Het
Szt2	G	T	4: 118,239,985 (GRCm39)		probably benign	Het
Tbx1	T	A	16: 18,402,937 (GRCm39)	H183L	probably damaging	Het
Thop1	A	G	10: 80,915,972 (GRCm39)	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,849 (GRCm39)	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559 (GRCm39)	Y513H	probably damaging	Het
Top1	A	G	2: 160,562,921 (GRCm39)	D709G	probably damaging	Het
Tprg1l	A	C	4: 154,242,890 (GRCm39)	S247A	probably damaging	Het
Trim46	A	G	3: 89,143,692 (GRCm39)	S602P	probably damaging	Het
Ttc7b	T	C	12: 100,466,433 (GRCm39)	K60E	probably benign	Het
Ttn	G	A	2: 76,714,815 (GRCm39)	S8053F	unknown	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp24	T	A	4: 106,234,762 (GRCm39)	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Xpc	G	A	6: 91,477,956 (GRCm39)	T309I	possibly damaging	Het
Zfp560	C	T	9: 20,260,895 (GRCm39)	M129I	probably benign	Het
Zpld2	G	A	4: 133,929,978 (GRCm39)	T109I	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
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

Predicted Primers

PCR Primer
(F):5'- ATGTTCTGGGAATCTGGCCC -3'
(R):5'- CTAAGCCTTGGCTGGATGTG -3'

Sequencing Primer
(F):5'- AATCTGGCCCGTCCTGG -3'
(R):5'- CCTGATGGGGTCACAGGGAG -3'

Posted On

2021-10-11