Mutagenetix > Incidental Mutation

Incidental Mutation 'R4936:Cyp27a1'

380335

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

042536-MU

Accession Numbers

Essential gene?

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

Stock #

R4936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74752733-74777051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74774564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 194 (V194A)

Ref Sequence

ENSEMBL: ENSMUSP00000027356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027356] [ENSMUST00000081636] [ENSMUST00000113672] [ENSMUST00000160732] [ENSMUST00000188073]

AlphaFold

Q9DBG1

Predicted Effect

probably benign
Transcript: ENSMUST00000027356
AA Change: V194A

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: V194A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081636

SMART Domains

Protein: ENSMUSP00000080342
Gene: ENSMUSG00000006542

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
CBS	202	251	2.66e-6	SMART
CBS	283	332	7.57e-11	SMART
CBS	358	406	8.69e-11	SMART
CBS	430	478	3.73e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113672

SMART Domains

Protein: ENSMUSP00000109302
Gene: ENSMUSG00000006542

Domain	Start	End	E-Value	Type
low complexity region	38	52	N/A	INTRINSIC
CBS	177	226	2.66e-6	SMART
CBS	258	307	7.57e-11	SMART
CBS	333	381	8.69e-11	SMART
CBS	405	453	3.73e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160732

SMART Domains

Protein: ENSMUSP00000125344
Gene: ENSMUSG00000006542

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
CBS	202	251	2.66e-6	SMART
CBS	283	332	7.57e-11	SMART
CBS	358	406	8.69e-11	SMART
CBS	430	478	3.73e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188073

SMART Domains

Protein: ENSMUSP00000139909
Gene: ENSMUSG00000006542

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
CBS	202	251	2.66e-6	SMART
CBS	283	332	7.57e-11	SMART
CBS	358	406	8.69e-11	SMART
CBS	430	478	3.73e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190781

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,212 (GRCm39)	F183L	possibly damaging	Het
4930590J08Rik	T	A	6: 91,921,245 (GRCm39)	M775K	probably damaging	Het
Actn1	T	G	12: 80,219,772 (GRCm39)	I700L	probably benign	Het
Adam5	T	C	8: 25,276,287 (GRCm39)	Y460C	probably damaging	Het
Akna	C	T	4: 63,313,502 (GRCm39)	G207E	probably damaging	Het
Ank2	T	A	3: 126,748,688 (GRCm39)	H527L	possibly damaging	Het
Anks1	C	A	17: 28,207,779 (GRCm39)	N383K	probably damaging	Het
Apba3	C	T	10: 81,105,204 (GRCm39)		probably null	Het
Atp9b	C	A	18: 80,779,308 (GRCm39)	V1121F	possibly damaging	Het
Bsn	T	C	9: 107,988,960 (GRCm39)	Y2264C	probably damaging	Het
Bst1	A	G	5: 43,997,799 (GRCm39)	D266G	probably damaging	Het
Cep55	A	G	19: 38,060,202 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckb	T	C	12: 111,637,664 (GRCm39)	K156E	probably benign	Het
Cln3	T	A	7: 126,174,393 (GRCm39)	H315L	probably damaging	Het
Cnot6l	A	G	5: 96,227,796 (GRCm39)	F479S	probably damaging	Het
Col1a1	A	G	11: 94,837,958 (GRCm39)	D826G	unknown	Het
Dis3l2	C	T	1: 86,971,890 (GRCm39)	P643S	probably benign	Het
Dpf3	T	C	12: 83,378,740 (GRCm39)	D108G	probably damaging	Het
Eif2b4	C	T	5: 31,350,241 (GRCm39)	G27D	probably benign	Het
Eif4a1	T	G	11: 69,563,251 (GRCm39)		probably benign	Het
Espl1	A	T	15: 102,213,372 (GRCm39)	D566V	probably damaging	Het
Ext2	T	A	2: 93,644,024 (GRCm39)	R86*	probably null	Het
Fasn	A	T	11: 120,706,911 (GRCm39)	F914I	probably damaging	Het
Fbf1	A	G	11: 116,043,378 (GRCm39)	L477P	probably benign	Het
Fsd1	A	T	17: 56,303,452 (GRCm39)	K441N	possibly damaging	Het
Fsip2	T	A	2: 82,815,384 (GRCm39)	S3706T	probably benign	Het
Gabra5	A	T	7: 57,058,547 (GRCm39)	N400K	probably benign	Het
Gimap8	G	T	6: 48,633,068 (GRCm39)	G296W	probably damaging	Het
Gli2	A	G	1: 118,763,870 (GRCm39)	V1427A	probably benign	Het
Gm7334	A	T	17: 51,005,855 (GRCm39)	Y47F	probably damaging	Het
Gm8674	T	G	13: 50,054,791 (GRCm39)		noncoding transcript	Het
Gmeb2	G	T	2: 180,896,039 (GRCm39)	T377K	probably benign	Het
Gp9	T	A	6: 87,756,229 (GRCm39)	D81E	probably benign	Het
Il5ra	T	A	6: 106,715,123 (GRCm39)	I212F	possibly damaging	Het
Klhl18	G	T	9: 110,258,029 (GRCm39)	N470K	possibly damaging	Het
Lfng	G	T	5: 140,598,150 (GRCm39)		probably null	Het
Lpo	A	G	11: 87,701,166 (GRCm39)	I430T	probably benign	Het
Lrrc31	C	T	3: 30,743,417 (GRCm39)	D183N	probably damaging	Het
Meis2	T	C	2: 115,694,893 (GRCm39)	T410A	probably benign	Het
Myo6	A	G	9: 80,214,963 (GRCm39)	D1232G	probably damaging	Het
Ncapd2	C	T	6: 125,146,803 (GRCm39)	R1261H	probably benign	Het
Nfkb1	C	T	3: 135,319,743 (GRCm39)	V251M	probably damaging	Het
Nmbr	C	A	10: 14,642,730 (GRCm39)	H96Q	probably damaging	Het
Nop14	C	T	5: 34,809,737 (GRCm39)	R256H	probably damaging	Het
Nqo2	T	A	13: 34,165,501 (GRCm39)	Y133N	probably damaging	Het
Or1f12	T	C	13: 21,721,357 (GRCm39)	I273V	probably benign	Het
Or5w20	A	G	2: 87,727,157 (GRCm39)	I213V	probably benign	Het
Pbld2	C	A	10: 62,888,017 (GRCm39)	S168R	probably damaging	Het
Pcdhb7	G	T	18: 37,475,202 (GRCm39)	G113*	probably null	Het
Pcdhb7	G	T	18: 37,475,203 (GRCm39)	G113V	probably damaging	Het
Pdgfra	A	T	5: 75,355,687 (GRCm39)	T1066S	probably damaging	Het
Prdm8	A	T	5: 98,332,881 (GRCm39)		probably null	Het
Prdm8	G	T	5: 98,332,882 (GRCm39)		probably null	Het
Prkg1	T	C	19: 30,563,775 (GRCm39)	Y479C	probably benign	Het
Pudp	T	C	18: 50,701,539 (GRCm39)	T65A	probably benign	Het
Rbbp6	C	T	7: 122,598,926 (GRCm39)		probably benign	Het
Rcc1	C	G	4: 132,063,046 (GRCm39)	V187L	probably damaging	Het
Rims2	T	A	15: 39,301,124 (GRCm39)	M285K	probably damaging	Het
Rtkn2	T	C	10: 67,877,745 (GRCm39)	*602Q	probably null	Het
Rxfp3	T	G	15: 11,036,866 (GRCm39)	S169R	probably damaging	Het
Sardh	T	C	2: 27,118,253 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,584 (GRCm39)	F157I	probably damaging	Het
Slc25a20	T	C	9: 108,559,191 (GRCm39)	Y186H	probably damaging	Het
Slc25a24	A	G	3: 109,070,864 (GRCm39)	R408G	probably damaging	Het
Slc44a5	T	G	3: 153,959,353 (GRCm39)	I348S	probably damaging	Het
Slc8a2	A	T	7: 15,868,100 (GRCm39)	K111*	probably null	Het
Smc5	A	G	19: 23,211,367 (GRCm39)	V589A	probably damaging	Het
Thbd	A	T	2: 148,249,655 (GRCm39)	I71N	probably damaging	Het
Thsd7b	T	C	1: 129,605,882 (GRCm39)	M541T	probably benign	Het
Tie1	T	A	4: 118,341,968 (GRCm39)		silent	Het
Tln1	A	G	4: 43,547,522 (GRCm39)	F813S	possibly damaging	Het
Tnrc18	A	T	5: 142,751,732 (GRCm39)	L1191*	probably null	Het
Tubb2a	A	C	13: 34,259,240 (GRCm39)	Y183*	probably null	Het
Ubr4	T	A	4: 139,123,877 (GRCm39)	V343E	probably damaging	Het
Vmn2r93	A	T	17: 18,524,327 (GRCm39)	D107V	possibly damaging	Het
Vwa5a	T	G	9: 38,647,494 (GRCm39)	S624R	probably benign	Het
Wwox	G	A	8: 115,433,098 (GRCm39)	V255I	probably benign	Het
Wwp1	T	C	4: 19,638,804 (GRCm39)	K546E	probably damaging	Het
Xirp2	T	A	2: 67,340,163 (GRCm39)	F801L	possibly damaging	Het
Zfp407	T	C	18: 84,577,589 (GRCm39)	I1175V	probably benign	Het
Zfp646	T	A	7: 127,480,933 (GRCm39)	C1037S	possibly damaging	Het
Zfp786	A	T	6: 47,798,202 (GRCm39)	C245*	probably null	Het
Zfp827	T	C	8: 79,787,812 (GRCm39)	V326A	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
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
R8258:Cyp27a1	UTSW	1	74,771,214 (GRCm39)	missense	probably benign	0.22
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'- AACCCCATGCTTACTTGTGC -3'
(R):5'- ACAGATCTGATGAAGGCGGC -3'

Sequencing Primer
(F):5'- CATGCTTACTTGTGCCGTTCTTGG -3'
(R):5'- AGGGTTTCAGGCAGCCAATC -3'

Posted On

2016-04-15