Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00972:Cyp39a1'

29340

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp39a1

Ensembl Gene

ENSMUSG00000023963

Gene Name

cytochrome P450, family 39, subfamily a, polypeptide 1

Synonyms

oxysterol 7-alpha-hydroxylase

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL00972

Quality Score

Status

Chromosome

Chromosomal Location

43978316-44062322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44012434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 304 (I304L)

Ref Sequence

ENSEMBL: ENSMUSP00000130073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170988]

AlphaFold

Q9JKJ9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122525

Predicted Effect

probably benign
Transcript: ENSMUST00000170988
AA Change: I304L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963
AA Change: I304L

Domain	Start	End	E-Value	Type
Pfam:p450	32	464	1.9e-52	PFAM

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 endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,484 (GRCm39)	F23L	probably damaging	Het
Abcf3	A	T	16: 20,370,434 (GRCm39)	M320L	probably damaging	Het
Adam4	A	T	12: 81,467,423 (GRCm39)	H399Q	probably damaging	Het
Ank1	A	G	8: 23,631,660 (GRCm39)	K140E	probably damaging	Het
Atg2a	G	A	19: 6,304,629 (GRCm39)	C1162Y	probably damaging	Het
Atp2b1	T	A	10: 98,850,906 (GRCm39)	I34N	probably damaging	Het
Bin1	A	T	18: 32,557,887 (GRCm39)	E260V	probably benign	Het
Birc2	G	A	9: 7,833,716 (GRCm39)	S255L	probably benign	Het
Cdc42bpa	A	G	1: 179,902,249 (GRCm39)	Q502R	probably benign	Het
Cep170	A	G	1: 176,563,262 (GRCm39)	V1584A	probably benign	Het
Commd3	A	T	2: 18,679,476 (GRCm39)	R120S	probably benign	Het
Cyp3a44	A	T	5: 145,716,534 (GRCm39)	M352K	possibly damaging	Het
Dna2	T	C	10: 62,786,602 (GRCm39)	Y117H	probably benign	Het
Dnah6	A	G	6: 73,060,140 (GRCm39)		probably benign	Het
Dsc1	G	A	18: 20,221,420 (GRCm39)	P685L	probably benign	Het
Efna5	T	A	17: 62,920,374 (GRCm39)	I168L	possibly damaging	Het
Ephx1	A	G	1: 180,827,365 (GRCm39)	F96S	probably benign	Het
Fig4	A	T	10: 41,127,784 (GRCm39)	I560K	probably damaging	Het
Fktn	T	A	4: 53,734,992 (GRCm39)	I210N	probably damaging	Het
Fmnl1	T	C	11: 103,071,781 (GRCm39)	V96A	probably damaging	Het
Gabra1	T	G	11: 42,024,453 (GRCm39)	E407D	probably benign	Het
Gm5277	A	T	3: 78,799,593 (GRCm39)		noncoding transcript	Het
H2-M10.5	A	T	17: 37,084,227 (GRCm39)	E63V	possibly damaging	Het
Icam5	T	A	9: 20,945,993 (GRCm39)	V275E	probably damaging	Het
Kel	G	A	6: 41,665,000 (GRCm39)	A588V	possibly damaging	Het
Klra5	T	A	6: 129,883,568 (GRCm39)	E96D	probably damaging	Het
Limd1	C	T	9: 123,309,141 (GRCm39)	T280I	probably benign	Het
Mul1	C	A	4: 138,165,628 (GRCm39)	S95*	probably null	Het
Nlrp4a	T	C	7: 26,156,473 (GRCm39)	S733P	probably benign	Het
Ntn1	T	A	11: 68,104,098 (GRCm39)	I517F	possibly damaging	Het
Ntrk3	T	A	7: 77,897,070 (GRCm39)	M656L	possibly damaging	Het
Oacyl	T	G	18: 65,858,572 (GRCm39)	L226R	possibly damaging	Het
Or1ad6	A	T	11: 50,859,946 (GRCm39)	M34L	probably benign	Het
Or4f61	A	T	2: 111,922,439 (GRCm39)	N202K	probably damaging	Het
Or5ac17	A	G	16: 59,036,829 (GRCm39)	I49T	probably damaging	Het
Pibf1	T	A	14: 99,416,885 (GRCm39)	L486*	probably null	Het
Pla2g4c	A	G	7: 13,074,583 (GRCm39)	Y253C	probably benign	Het
Rims3	C	A	4: 120,748,583 (GRCm39)	A268E	probably benign	Het
Rpl12	T	C	2: 32,853,759 (GRCm39)	I129T	probably benign	Het
Rsl1	A	T	13: 67,329,862 (GRCm39)	K103N	probably benign	Het
Scn11a	A	T	9: 119,623,004 (GRCm39)	W612R	probably benign	Het
Sdk2	G	A	11: 113,745,210 (GRCm39)	T695M	possibly damaging	Het
Slc17a1	T	A	13: 24,062,437 (GRCm39)		probably benign	Het
Stam	A	T	2: 14,120,779 (GRCm39)		probably benign	Het
Tacr3	T	G	3: 134,638,116 (GRCm39)	N424K	probably benign	Het
Tas1r2	C	T	4: 139,387,347 (GRCm39)	R240W	probably damaging	Het
Tle1	T	C	4: 72,040,637 (GRCm39)	R648G	probably damaging	Het
Tmem92	T	C	11: 94,673,254 (GRCm39)	D3G	possibly damaging	Het
Trip11	T	C	12: 101,860,596 (GRCm39)	I250V	probably null	Het
Tspan8	C	T	10: 115,680,044 (GRCm39)		probably benign	Het
Vmn1r128	A	G	7: 21,084,001 (GRCm39)	E235G	probably benign	Het
Vmn1r220	A	G	13: 23,368,558 (GRCm39)	L46P	probably damaging	Het
Vmn2r9	T	C	5: 108,996,903 (GRCm39)	E122G	probably benign	Het
Zfp27	A	T	7: 29,594,383 (GRCm39)	N527K	probably damaging	Het

Other mutations in Cyp39a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Cyp39a1	APN	17	43,993,913 (GRCm39)	missense	probably benign	0.00
IGL01606:Cyp39a1	APN	17	44,057,509 (GRCm39)	splice site	probably benign
IGL01769:Cyp39a1	APN	17	44,060,806 (GRCm39)	missense	possibly damaging	0.53
IGL01916:Cyp39a1	APN	17	44,041,941 (GRCm39)	missense	probably damaging	1.00
IGL02374:Cyp39a1	APN	17	44,060,872 (GRCm39)	utr 3 prime	probably benign
IGL02402:Cyp39a1	APN	17	44,002,613 (GRCm39)	missense	probably benign	0.07
IGL03097:Cyp39a1	UTSW	17	43,993,941 (GRCm39)	nonsense	probably null
R0230:Cyp39a1	UTSW	17	44,042,903 (GRCm39)	missense	probably damaging	1.00
R1244:Cyp39a1	UTSW	17	44,060,836 (GRCm39)	missense	probably benign	0.13
R1572:Cyp39a1	UTSW	17	43,991,020 (GRCm39)	missense	probably damaging	1.00
R1656:Cyp39a1	UTSW	17	43,978,510 (GRCm39)	missense	possibly damaging	0.74
R4036:Cyp39a1	UTSW	17	43,987,831 (GRCm39)	missense	probably damaging	0.97
R4308:Cyp39a1	UTSW	17	44,041,855 (GRCm39)	splice site	probably null
R5081:Cyp39a1	UTSW	17	44,057,488 (GRCm39)	missense	probably damaging	1.00
R5197:Cyp39a1	UTSW	17	44,057,429 (GRCm39)	missense	possibly damaging	0.67
R5405:Cyp39a1	UTSW	17	43,987,831 (GRCm39)	missense	probably damaging	1.00
R5566:Cyp39a1	UTSW	17	43,996,099 (GRCm39)	missense	possibly damaging	0.92
R5578:Cyp39a1	UTSW	17	43,991,031 (GRCm39)	missense	possibly damaging	0.91
R6045:Cyp39a1	UTSW	17	44,042,882 (GRCm39)	missense	probably damaging	1.00
R6495:Cyp39a1	UTSW	17	44,002,585 (GRCm39)	missense	probably benign	0.41
R7191:Cyp39a1	UTSW	17	44,041,910 (GRCm39)	nonsense	probably null
R7431:Cyp39a1	UTSW	17	43,993,906 (GRCm39)	missense	probably benign
R7522:Cyp39a1	UTSW	17	43,978,370 (GRCm39)	start gained	probably benign
R7620:Cyp39a1	UTSW	17	44,036,544 (GRCm39)	splice site	probably null
R8022:Cyp39a1	UTSW	17	44,057,468 (GRCm39)	missense	probably damaging	1.00
R8143:Cyp39a1	UTSW	17	44,036,517 (GRCm39)	missense	probably benign	0.39
R8483:Cyp39a1	UTSW	17	43,993,898 (GRCm39)	missense	probably benign	0.01
R8549:Cyp39a1	UTSW	17	44,041,886 (GRCm39)	missense	possibly damaging	0.95
R8964:Cyp39a1	UTSW	17	44,002,558 (GRCm39)	missense	probably benign	0.02
R9730:Cyp39a1	UTSW	17	43,991,029 (GRCm39)	missense	probably benign	0.01
Z1176:Cyp39a1	UTSW	17	44,041,939 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp39a1	UTSW	17	44,036,468 (GRCm39)	missense	probably benign	0.01

Posted On

2013-04-17