Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Cyp27a1'

17788

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

038389-MU

Accession Numbers

Essential gene?

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

Stock #

R0103 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

74752733-74777051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74775074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 301 (E301A)

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: E301A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: E301A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.4%
3x: 86.4%
10x: 77.8%
20x: 63.0%

Validation Efficiency

91% (89/98)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,223,951 (GRCm39)	R443S	probably damaging	Het
Adgrl3	A	G	5: 81,940,194 (GRCm39)		probably benign	Het
Anapc1	T	C	2: 128,522,372 (GRCm39)		probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,206,922 (GRCm39)		probably benign	Het
Asah2	G	T	19: 31,996,377 (GRCm39)	H374N	probably benign	Het
Catspere2	A	G	1: 177,943,771 (GRCm39)	N703D	unknown	Het
Ccdc106	C	A	7: 5,060,544 (GRCm39)	Q35K	probably benign	Het
Ccm2l	G	T	2: 152,909,839 (GRCm39)	E64*	probably null	Het
Cep85l	A	T	10: 53,154,270 (GRCm39)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,815,951 (GRCm39)	I611F	possibly damaging	Het
Cldn22	C	T	8: 48,277,589 (GRCm39)	T9M	probably benign	Het
Coa7	T	C	4: 108,195,338 (GRCm39)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,821,701 (GRCm39)	Y2N	probably damaging	Het
Dennd4c	A	G	4: 86,730,683 (GRCm39)	Y860C	probably benign	Het
Dhx58	T	C	11: 100,586,096 (GRCm39)	T642A	probably damaging	Het
Dlg4	A	G	11: 69,922,019 (GRCm39)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,069,155 (GRCm39)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,443,717 (GRCm39)	E9*	probably null	Het
Fbln2	A	C	6: 91,248,532 (GRCm39)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,192,381 (GRCm39)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm39)	I17K	probably damaging	Het
Gbp7	T	A	3: 142,252,299 (GRCm39)	N627K	probably benign	Het
Gnptab	A	G	10: 88,265,381 (GRCm39)	Y331C	probably damaging	Het
Hibadh	T	A	6: 52,534,862 (GRCm39)	M173L	probably benign	Het
Itga1	T	C	13: 115,152,790 (GRCm39)	I211V	probably benign	Het
Keg1	A	T	19: 12,696,280 (GRCm39)	I155F	possibly damaging	Het
Ltb	A	G	17: 35,414,016 (GRCm39)		probably benign	Het
Manea	A	T	4: 26,329,080 (GRCm39)		probably null	Het
Ms4a4a	T	A	19: 11,370,048 (GRCm39)	M202K	possibly damaging	Het
Myo3a	T	G	2: 22,436,360 (GRCm39)		probably benign	Het
Myo9b	C	T	8: 71,776,493 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ncor1	G	T	11: 62,233,871 (GRCm39)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,471,980 (GRCm39)	C53*	probably null	Het
Obscn	G	T	11: 58,953,522 (GRCm39)	Y4044*	probably null	Het
Pcsk6	T	C	7: 65,578,845 (GRCm39)		probably benign	Het
Phax	T	A	18: 56,695,785 (GRCm39)	V7D	probably benign	Het
Phxr4	T	C	9: 13,343,087 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,593,583 (GRCm39)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,460,537 (GRCm39)	C4249R	probably benign	Het
Prpf39	T	C	12: 65,102,057 (GRCm39)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,137,770 (GRCm39)	N455S	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rad9b	A	T	5: 122,469,590 (GRCm39)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,076,212 (GRCm39)		probably benign	Het
Rhoc	A	T	3: 104,699,307 (GRCm39)	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,199,743 (GRCm39)	V925G	probably damaging	Het
Slc25a32	A	T	15: 38,963,292 (GRCm39)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,289,236 (GRCm39)	K4*	probably null	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taar4	A	T	10: 23,837,304 (GRCm39)	N305Y	probably damaging	Het
Tcaf1	G	T	6: 42,663,324 (GRCm39)	D185E	probably benign	Het
Tmem138	T	C	19: 10,552,316 (GRCm39)	N62S	possibly damaging	Het
Tnfrsf25	C	T	4: 152,201,405 (GRCm39)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,067,240 (GRCm39)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,184,805 (GRCm39)	F597S	probably damaging	Het
Ugt2a3	A	G	5: 87,484,577 (GRCm39)	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,051,267 (GRCm39)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,417,108 (GRCm39)	C114R	possibly damaging	Het
Zc3h13	T	A	14: 75,567,908 (GRCm39)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,808,375 (GRCm39)	W274*	probably null	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
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
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

Posted On

2013-01-31