Mutagenetix > Incidental Mutation

Incidental Mutation 'R8258:Cyp27a1'

640056

Institutional Source

Beutler Lab

Gene Symbol

Cyp27a1

Ensembl Gene

ENSMUSG00000026170

Gene Name

cytochrome P450, family 27, subfamily a, polypeptide 1

Synonyms

Cyp27, cholesterol 27 hydroxylase, 1300013A03Rik

MMRRC Submission

067684-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R8258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74752733-74777051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74771214 bp (GRCm39)

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Cimap2	C	T	4: 106,448,859 (GRCm39)	G400S	probably damaging	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	probably benign	Het

Other mutations in Cyp27a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Cyp27a1	APN	1	74,771,097 (GRCm39)	missense	possibly damaging	0.88
IGL01824:Cyp27a1	APN	1	74,775,040 (GRCm39)	nonsense	probably null
IGL02725:Cyp27a1	APN	1	74,774,862 (GRCm39)	missense	probably damaging	0.98
IGL02966:Cyp27a1	APN	1	74,771,249 (GRCm39)	missense	probably benign
IGL03067:Cyp27a1	APN	1	74,771,068 (GRCm39)	splice site	probably null
R0103:Cyp27a1	UTSW	1	74,775,074 (GRCm39)	missense	probably benign
R0103:Cyp27a1	UTSW	1	74,775,074 (GRCm39)	missense	probably benign
R1968:Cyp27a1	UTSW	1	74,776,435 (GRCm39)	missense	probably benign	0.00
R2271:Cyp27a1	UTSW	1	74,775,846 (GRCm39)	missense	probably damaging	1.00
R3847:Cyp27a1	UTSW	1	74,776,718 (GRCm39)	missense	probably damaging	0.99
R4735:Cyp27a1	UTSW	1	74,776,366 (GRCm39)	missense	possibly damaging	0.94
R4936:Cyp27a1	UTSW	1	74,774,564 (GRCm39)	missense	probably benign	0.35
R5849:Cyp27a1	UTSW	1	74,775,843 (GRCm39)	missense	probably damaging	1.00
R6129:Cyp27a1	UTSW	1	74,774,851 (GRCm39)	missense	probably benign	0.24
R6193:Cyp27a1	UTSW	1	74,776,231 (GRCm39)	missense	probably benign	0.00
R6344:Cyp27a1	UTSW	1	74,776,008 (GRCm39)	critical splice donor site	probably null
R6464:Cyp27a1	UTSW	1	74,775,047 (GRCm39)	missense	possibly damaging	0.61
R7226:Cyp27a1	UTSW	1	74,776,507 (GRCm39)	missense	probably damaging	1.00
R7337:Cyp27a1	UTSW	1	74,774,594 (GRCm39)	missense	probably damaging	1.00
R7696:Cyp27a1	UTSW	1	74,771,198 (GRCm39)	missense	probably benign	0.00
R7959:Cyp27a1	UTSW	1	74,776,236 (GRCm39)	missense	probably benign	0.07
R8259:Cyp27a1	UTSW	1	74,771,214 (GRCm39)	missense	probably benign	0.22
R9352:Cyp27a1	UTSW	1	74,752,920 (GRCm39)	missense	possibly damaging	0.92
Z1177:Cyp27a1	UTSW	1	74,776,494 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2020-07-28