Mutagenetix > Incidental Mutation

Incidental Mutation 'R9352:Cyp27a1'

708105

Institutional Source

Beutler Lab

Gene Symbol

Cyp27a1

Ensembl Gene

ENSMUSG00000026170

Gene Name

cytochrome P450, family 27, subfamily a, polypeptide 1

Synonyms

cholesterol 27 hydroxylase, Cyp27, 1300013A03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R9352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74713574-74737892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74713761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 44 (T44M)

Ref Sequence

ENSEMBL: ENSMUSP00000027356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027356]

AlphaFold

Q9DBG1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027356
AA Change: T44M

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: T44M

Domain	Start	End	E-Value	Type
Pfam:p450	63	529	5.1e-107	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null allele show hepato- and adrenomegaly, reduced bile acid synthesis, increased cholesterol 7alpha-hydroxylase activity and 7alpha-hydroxycholesterol levels, slightly higher 25-hydroxyvitamin D levels, and altered hepatic fatty acid, triacylglycerol, and adrenal cholesterol homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,334,682	F1500S	probably damaging	Het
Adamtsl3	A	T	7: 82,442,448	Q123L	probably damaging	Het
Adarb2	T	A	13: 8,757,392	L743Q	probably damaging	Het
Alpk2	C	A	18: 65,306,712	D537Y	probably benign	Het
Anxa4	C	T	6: 86,765,793		probably benign	Het
Arfgap3	T	A	15: 83,306,926	I464L	possibly damaging	Het
Asb2	C	T	12: 103,330,439	V320I	probably damaging	Het
Axl	T	C	7: 25,763,327	T659A	possibly damaging	Het
Bbof1	A	G	12: 84,414,620	H139R	probably benign	Het
Birc6	G	A	17: 74,658,352		probably null	Het
Cdh23	G	A	10: 60,307,527	A3005V	possibly damaging	Het
Chil3	A	T	3: 106,160,471	F126Y	probably damaging	Het
Chrnb4	T	A	9: 55,043,883	D32V	probably benign	Het
Chst15	C	A	7: 132,270,528	C8F	probably damaging	Het
Cntnap5c	A	G	17: 58,092,468	I439V	probably benign	Het
Crisp2	T	A	17: 40,767,309	N194I	probably damaging	Het
Csrnp1	G	A	9: 119,972,931	T354M	probably benign	Het
Cul1	T	A	6: 47,502,492	S231T	probably benign	Het
Dgkg	T	C	16: 22,579,831	D232G	probably damaging	Het
Dnah1	G	T	14: 31,316,663	Q154K	probably benign	Het
Dnmt1	A	G	9: 20,929,088	V304A	probably benign	Het
Dok6	T	C	18: 89,474,009	N148S	probably benign	Het
Fam71e2	T	A	7: 4,758,606	Y369F		Het
Fnta	A	T	8: 26,011,091	W134R	probably damaging	Het
Gm32742	T	G	9: 51,141,244	Q1441P	possibly damaging	Het
Gm3486	T	C	14: 41,486,361	Q131R	possibly damaging	Het
Gnptab	A	G	10: 88,432,488	N486D	probably benign	Het
H2-Q4	T	G	17: 35,382,933	F257C	probably damaging	Het
Hfe	A	G	13: 23,706,136	V218A	probably benign	Het
Htr2b	A	G	1: 86,099,572	V404A	probably benign	Het
Hyou1	T	A	9: 44,389,629		probably null	Het
Ikbkb	T	C	8: 22,660,428	D746G	probably benign	Het
Ikzf4	T	C	10: 128,636,754	N251S	probably benign	Het
Il23r	A	C	6: 67,426,608	N436K	probably damaging	Het
Impg2	A	T	16: 56,252,107	I301L	probably benign	Het
Irf4	A	T	13: 30,752,723	M146L	probably benign	Het
Iws1	G	A	18: 32,080,160	E214K	possibly damaging	Het
Kctd3	T	C	1: 188,972,580	S665G	probably damaging	Het
Kiz	T	C	2: 146,953,007	S596P	probably damaging	Het
Kpna2	T	C	11: 106,989,466	E452G	probably damaging	Het
Lclat1	A	G	17: 73,161,942	Y39C	probably damaging	Het
Lig3	A	G	11: 82,796,145	S705G	probably benign	Het
Lrp1b	T	C	2: 40,858,426	D3134G		Het
Map3k8	C	T	18: 4,349,170	M49I	probably benign	Het
Mep1b	A	G	18: 21,076,374	D54G	probably damaging	Het
Mgat5b	T	A	11: 116,966,707	S342R	probably benign	Het
Mthfd2l	G	T	5: 90,961,313	V201L	possibly damaging	Het
Naip6	G	T	13: 100,301,385	T371K	possibly damaging	Het
Naxd	T	C	8: 11,505,504	I104T	probably damaging	Het
Nbeal2	T	A	9: 110,627,848	I2361F	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr145	A	G	9: 37,897,416	E4G	probably benign	Het
Olfr23	A	G	11: 73,940,644	T133A	probably benign	Het
Olfr790	A	T	10: 129,501,495	M196L	probably benign	Het
Olfr894	T	G	9: 38,219,387	L185R	probably damaging	Het
Pga5	C	T	19: 10,669,533	G303S	probably damaging	Het
Polq	T	C	16: 37,041,890	F591L	probably damaging	Het
Ppp2r1a	A	T	17: 20,965,237		probably null	Het
Prrc1	A	G	18: 57,389,245	Y383C	probably damaging	Het
Ptgfr	A	T	3: 151,835,523	V116D	probably damaging	Het
Qpctl	C	T	7: 19,144,674	R292Q	possibly damaging	Het
Rasip1	G	A	7: 45,628,856	V194M	possibly damaging	Het
Rbbp4	A	T	4: 129,317,705	N385K	probably benign	Het
Rbbp8nl	A	G	2: 180,279,260	S444P	probably benign	Het
Sf3a1	G	A	11: 4,160,494	A3T	unknown	Het
Slc1a4	A	G	11: 20,332,025	S150P	probably damaging	Het
Slc28a2	T	C	2: 122,451,041		probably null	Het
Slc30a5	A	G	13: 100,803,872	I702T	probably benign	Het
Slc36a4	T	A	9: 15,722,023		probably null	Het
Slf2	A	G	19: 44,943,518	R671G	probably null	Het
Smarcc1	A	G	9: 110,206,152	K881R	probably null	Het
Srsf11	A	G	3: 158,012,199	V414A	unknown	Het
Tcn2	T	C	11: 3,923,446	N300S	probably damaging	Het
Tecta	T	C	9: 42,337,851	K1905R	probably damaging	Het
Tex30	T	G	1: 44,091,593		probably null	Het
Tktl2	A	T	8: 66,513,322	I511F	possibly damaging	Het
Tpp1	G	T	7: 105,749,674	Q183K	probably benign	Het
Trib2	A	C	12: 15,815,412	I30R	probably benign	Het
Tti1	A	G	2: 158,000,772	L779P	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unc13b	GAGCCA	GAGCCATAGCCA	4: 43,177,313		probably null	Het
Vmn2r112	A	G	17: 22,603,498	T386A	probably damaging	Het
Vps16	T	C	2: 130,441,903		probably null	Het
Zan	T	G	5: 137,436,483	N2186T	unknown	Het
Zdhhc11	C	T	13: 73,973,681	R104*	probably null	Het
Zfp318	T	G	17: 46,410,358	H1176Q	probably damaging	Het
Zfp335	G	A	2: 164,900,322	H581Y	probably damaging	Het
Zfp7	T	C	15: 76,891,474	I572T	probably damaging	Het
Zfp955a	T	C	17: 33,242,361	T266A	probably benign	Het

Other mutations in Cyp27a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Cyp27a1	APN	1	74731938	missense	possibly damaging	0.88
IGL01824:Cyp27a1	APN	1	74735881	nonsense	probably null
IGL02725:Cyp27a1	APN	1	74735703	missense	probably damaging	0.98
IGL02966:Cyp27a1	APN	1	74732090	missense	probably benign
IGL03067:Cyp27a1	APN	1	74731909	splice site	probably null
R0103:Cyp27a1	UTSW	1	74735915	missense	probably benign
R0103:Cyp27a1	UTSW	1	74735915	missense	probably benign
R1968:Cyp27a1	UTSW	1	74737276	missense	probably benign	0.00
R2271:Cyp27a1	UTSW	1	74736687	missense	probably damaging	1.00
R3847:Cyp27a1	UTSW	1	74737559	missense	probably damaging	0.99
R4735:Cyp27a1	UTSW	1	74737207	missense	possibly damaging	0.94
R4936:Cyp27a1	UTSW	1	74735405	missense	probably benign	0.35
R5849:Cyp27a1	UTSW	1	74736684	missense	probably damaging	1.00
R6129:Cyp27a1	UTSW	1	74735692	missense	probably benign	0.24
R6193:Cyp27a1	UTSW	1	74737072	missense	probably benign	0.00
R6344:Cyp27a1	UTSW	1	74736849	critical splice donor site	probably null
R6464:Cyp27a1	UTSW	1	74735888	missense	possibly damaging	0.61
R7226:Cyp27a1	UTSW	1	74737348	missense	probably damaging	1.00
R7337:Cyp27a1	UTSW	1	74735435	missense	probably damaging	1.00
R7696:Cyp27a1	UTSW	1	74732039	missense	probably benign	0.00
R7959:Cyp27a1	UTSW	1	74737077	missense	probably benign	0.07
R8258:Cyp27a1	UTSW	1	74732055	missense	probably benign	0.22
R8259:Cyp27a1	UTSW	1	74732055	missense	probably benign	0.22
Z1177:Cyp27a1	UTSW	1	74737335	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGCTCATAGTCTCTGGATC -3'
(R):5'- TCAGACAGTGGCGAGCTAAG -3'

Sequencing Primer
(F):5'- GGGCTCATAGTCTCTGGATCTAAAC -3'
(R):5'- CAGTGGCGAGCTAAGTTCTATTTAC -3'

Posted On

2022-04-18