Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01089:Cyp27a1'

50232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp27a1

Ensembl Gene

ENSMUSG00000026170

Gene Name

cytochrome P450, family 27, subfamily a, polypeptide 1

Synonyms

cholesterol 27 hydroxylase, Cyp27, 1300013A03Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

74713574-74737892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74731938 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 94 (Y94F)

Ref Sequence

ENSEMBL: ENSMUSP00000027356 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027356
AA Change: Y94F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: Y94F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190781

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,337	E180G	possibly damaging	Het
Actr8	T	C	14: 29,988,335	L353S	probably damaging	Het
Adgrf2	G	A	17: 42,710,158	P592S	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,913,411		probably null	Het
Asnsd1	G	A	1: 53,348,277	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,271	M76T	probably damaging	Het
Clca3b	A	T	3: 144,823,522	V797D	probably benign	Het
Cog2	T	C	8: 124,545,243	S499P	probably benign	Het
D430042O09Rik	A	G	7: 125,795,313	E187G	probably damaging	Het
D630045J12Rik	A	G	6: 38,136,963	S1765P	probably benign	Het
Fam149a	A	G	8: 45,348,527	L519P	possibly damaging	Het
Fam171a2	G	A	11: 102,437,848	A695V	possibly damaging	Het
Fat1	T	A	8: 45,017,857	V1566E	probably damaging	Het
Flvcr1	T	G	1: 191,013,390	N361H	probably damaging	Het
Gm1110	T	C	9: 26,881,860	N540S	probably benign	Het
Kcns3	T	A	12: 11,091,571	T376S	possibly damaging	Het
Krt32	A	G	11: 100,087,779	S150P	probably benign	Het
Lrtm2	C	T	6: 119,320,792	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,020,798	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363		probably null	Het
Olfr338	A	T	2: 36,377,166	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,707,887	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,483,869		probably benign	Het
Plaa	A	G	4: 94,574,047	V531A	probably benign	Het
Psmb2	A	G	4: 126,684,206	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,168,697	V926D	possibly damaging	Het
Rgma	G	T	7: 73,409,714	V189L	possibly damaging	Het
Sbf2	A	T	7: 110,348,962	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,648,281	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,388,881	V896A	probably damaging	Het
Taf2	T	C	15: 55,016,581	M1120V	probably benign	Het
Ugt2b34	C	T	5: 86,906,326	V199I	probably benign	Het
Unc5c	C	A	3: 141,818,202		probably benign	Het
Usp37	G	A	1: 74,493,046	R63*	probably null	Het

Other mutations in Cyp27a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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

Posted On

2013-06-21