Mutagenetix > Incidental Mutation

Incidental Mutation 'R8259:Cyp27a1'

640412

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 #

R8259 (G1)

Quality Score

204.009

Status

Validated

Chromosome

Chromosomal Location

74713574-74737892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74732055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 133 (D133V)

Ref Sequence

ENSEMBL: ENSMUSP00000027356 (fasta)

Gene Model

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

AlphaFold

Q9DBG1

Predicted Effect

probably benign
Transcript: ENSMUST00000027356
AA Change: D133V

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: D133V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	C	1: 26,682,481	E1206G	probably benign	Het
Abca15	A	T	7: 120,340,199	H272L	probably benign	Het
Abcg5	T	G	17: 84,676,095	T144P	possibly damaging	Het
Adam34	G	A	8: 43,651,609	S333L	probably benign	Het
Adcy6	A	G	15: 98,601,038	F294S	probably damaging	Het
Adhfe1	A	G	1: 9,558,192	N263S	probably null	Het
Aebp2	A	T	6: 140,637,727	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,171,156	Y281H	probably damaging	Het
Aplf	T	C	6: 87,630,005	R476G	probably benign	Het
Atg2a	G	A	19: 6,249,829	A588T	probably damaging	Het
Birc6	A	G	17: 74,598,078	T1289A	probably benign	Het
Cacna1d	A	G	14: 30,051,518	S1759P	probably benign	Het
Calcoco1	T	C	15: 102,715,793	D236G	probably damaging	Het
Camsap2	A	T	1: 136,280,339	D470E	probably benign	Het
Capn8	G	T	1: 182,565,133	V25L	probably benign	Het
Card10	A	G	15: 78,776,684	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,964,082	H137L	probably damaging	Het
Cdh23	A	T	10: 60,315,656	D2483E	probably damaging	Het
Chd2	G	T	7: 73,435,784	Q1701K	probably benign	Het
Ckmt2	T	A	13: 91,859,216	R286S	probably damaging	Het
Clhc1	G	A	11: 29,553,746	R54Q	probably benign	Het
Cntnap3	T	A	13: 64,787,867	D394V	probably damaging	Het
Comp	A	G	8: 70,379,054	D441G	probably damaging	Het
Cyp20a1	G	A	1: 60,352,171		probably null	Het
Cyp2a12	C	T	7: 27,032,658	Q275*	probably null	Het
Dnhd1	A	T	7: 105,694,788	I1780L	probably benign	Het
Dpy19l2	A	G	9: 24,669,406	V213A	probably benign	Het
Eml1	A	T	12: 108,510,199	I283F	probably damaging	Het
Ep300	A	G	15: 81,639,017	T1281A	unknown	Het
Ercc6l2	G	A	13: 63,872,471	E803K		Het
Fat3	A	G	9: 15,990,591	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,234,695	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,968,133	S76P	possibly damaging	Het
Fgg	C	T	3: 83,010,170	Q169*	probably null	Het
Flnb	A	G	14: 7,889,183	Y511C	probably damaging	Het
Ggt5	G	A	10: 75,614,832	V558I	probably benign	Het
Gm4779	G	C	X: 101,793,784	T171S	possibly damaging	Het
Greb1	A	T	12: 16,724,924	C157*	probably null	Het
Grid2ip	A	G	5: 143,362,589	E145G	probably benign	Het
Hdac11	T	A	6: 91,172,228	V238E	probably damaging	Het
Herc2	A	G	7: 56,205,890	D3858G	probably damaging	Het
Hoxc4	A	G	15: 103,034,739	Y6C	probably damaging	Het
Incenp	A	G	19: 9,893,629	L212P	unknown	Het
Incenp	G	C	19: 9,893,641	T208R	unknown	Het
Mctp1	T	A	13: 76,801,547		probably null	Het
Megf8	T	C	7: 25,358,423	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,911,909	V308I	probably benign	Het
Muc1	T	A	3: 89,232,034	H580Q	probably damaging	Het
Naip6	A	T	13: 100,316,412	M47K	probably benign	Het
Nectin3	C	T	16: 46,436,391	R419Q	probably benign	Het
Nlrp4g	T	G	9: 124,353,392	Y579D	noncoding transcript	Het
Nrxn1	C	A	17: 90,163,821	R1260L	probably damaging	Het
Nynrin	A	G	14: 55,863,358	I202V	possibly damaging	Het
Olfr128	T	C	17: 37,923,956	L130P	probably damaging	Het
Olfr1450	T	C	19: 12,954,363	M258T	possibly damaging	Het
Olfr199	T	C	16: 59,216,095	I173V	probably benign	Het
Olfr78	A	G	7: 102,742,827	Y59H	probably damaging	Het
Pard3	G	A	8: 127,371,540	W354*	probably null	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Prune2	A	G	19: 17,212,308	R3052G	unknown	Het
Prx	T	C	7: 27,519,383	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,825,580	I183T	probably benign	Het
Ranbp2	A	G	10: 58,455,933	E254G	probably benign	Het
Ren1	C	T	1: 133,350,796	R31*	probably null	Het
Rhot2	C	A	17: 25,839,890	R512L	probably benign	Het
Rpa1	T	C	11: 75,302,724	N594D	probably benign	Het
Rpp14	T	G	14: 8,090,526	V150G	probably null	Het
Rxfp2	T	A	5: 150,059,900	I300K	probably damaging	Het
Sbno1	A	T	5: 124,381,696	V1173E	probably damaging	Het
Scarf1	T	A	11: 75,523,863	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,254,669	V455A	probably damaging	Het
Slitrk1	A	G	14: 108,911,221	V686A	probably benign	Het
Ston2	A	T	12: 91,641,680	I882N	probably benign	Het
Syne2	C	A	12: 75,949,369	Q2228K	possibly damaging	Het
Tcf20	A	C	15: 82,852,273	F1659C	probably damaging	Het
Tenm4	G	A	7: 96,867,991	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,617,699	A253S	probably benign	Het
Tmem87a	A	G	2: 120,397,447	F73S	possibly damaging	Het
Trpm1	G	A	7: 64,269,029	A1590T	probably benign	Het
Usp13	C	T	3: 32,917,599	Q743*	probably null	Het
Vmn1r184	T	A	7: 26,267,261	M144K	probably benign	Het
Wee2	A	G	6: 40,444,180	D68G	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
R9352:Cyp27a1	UTSW	1	74713761	missense	possibly damaging	0.92
Z1177:Cyp27a1	UTSW	1	74737335	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCATCTCAACTGGACCCC -3'
(R):5'- AAGAGGCAGTGGCTGTTCTG -3'

Sequencing Primer
(F):5'- GGACCCCAGTTATTCCACTTTGG -3'
(R):5'- GCCTCAACGTTTTCTAGACAAG -3'

Posted On

2020-07-28