Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01532:Cyp4f39'

89816

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp4f39

Ensembl Gene

ENSMUSG00000061126

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 39

Synonyms

4732474A20Rik

Accession Numbers

Genbank: NM_177307; MGI: 2445210

Is this an essential gene?

Possibly non essential (E-score: 0.385) question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

32468462-32492479 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 32470954 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003413]

Predicted Effect

probably benign
Transcript: ENSMUST00000003413

SMART Domains

Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126

Domain	Start	End	E-Value	Type
transmembrane domain	18	40	N/A	INTRINSIC
Pfam:p450	60	525	5.8e-124	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 gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,908,601	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,694,569	T260I	probably damaging	Het
Ambra1	G	T	2: 91,885,632	K769N	probably damaging	Het
Arel1	A	G	12: 84,934,162	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,849,502	C76*	probably null	Het
AW112010	C	A	19: 11,048,069		noncoding transcript	Het
Bfar	A	T	16: 13,687,387		probably benign	Het
Ccdc70	T	G	8: 21,973,283	L30V	probably damaging	Het
Chrm5	C	T	2: 112,479,232	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732	T7I	probably benign	Het
Dlg5	T	C	14: 24,158,592	T849A	probably benign	Het
Dock8	G	T	19: 25,169,441	G1428V	probably damaging	Het
Eomes	T	C	9: 118,482,249	I380T	probably damaging	Het
Fam13a	T	C	6: 58,940,295	D532G	probably damaging	Het
Fopnl	A	G	16: 14,304,511	S130P	probably benign	Het
Gm10061	G	T	16: 89,151,302	*55L	probably null	Het
Gm27438	T	G	2: 87,252,925		probably benign	Het
Gpalpp1	T	C	14: 76,102,502	K124E	probably benign	Het
Hgs	T	A	11: 120,477,509		probably null	Het
Hpn	T	A	7: 31,103,513	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,294,928		probably null	Het
Jag2	A	T	12: 112,914,363	C583S	probably damaging	Het
Katnal2	T	C	18: 77,012,000	H146R	probably benign	Het
Ldah	T	C	12: 8,220,596		probably benign	Het
Lvrn	T	A	18: 46,900,484	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,870,006	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,400,551	S518G	probably benign	Het
Ncf1	T	C	5: 134,226,593	N148S	probably benign	Het
Nes	T	G	3: 87,978,347	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,085,999		probably benign	Het
Olfr548-ps1	T	C	7: 102,542,656	L240P	probably damaging	Het
Rnf31	C	A	14: 55,602,623	Q968K	probably damaging	Het
Ros1	A	G	10: 52,090,938		probably benign	Het
Ryk	T	C	9: 102,897,266	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,273,040		probably null	Het
Sptssb	A	G	3: 69,820,869		probably benign	Het
Sstr5	T	C	17: 25,491,331	D308G	probably damaging	Het
Taf2	A	G	15: 55,049,486	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vti1b	A	C	12: 79,165,138	L1W	probably null	Het
Wdr1	T	C	5: 38,535,187	Y125C	probably damaging	Het

Other mutations in Cyp4f39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Cyp4f39	APN	17	32470912	missense	probably damaging	1.00
IGL00822:Cyp4f39	APN	17	32470832	missense	probably benign	0.03
IGL00857:Cyp4f39	APN	17	32489657	missense	probably benign	0.08
IGL01380:Cyp4f39	APN	17	32481858	missense	probably damaging	1.00
IGL01756:Cyp4f39	APN	17	32483441	nonsense	probably null
IGL02090:Cyp4f39	APN	17	32470958	splice site	probably benign
IGL02477:Cyp4f39	APN	17	32489645	missense	probably benign	0.40
IGL02824:Cyp4f39	APN	17	32468685	critical splice donor site	probably null
N/A:Cyp4f39	UTSW	17	32468681	missense	probably benign	0.03
R0145:Cyp4f39	UTSW	17	32486960	missense	possibly damaging	0.92
R0288:Cyp4f39	UTSW	17	32492436	missense	probably benign	0.01
R1676:Cyp4f39	UTSW	17	32482202	missense	probably benign	0.41
R1677:Cyp4f39	UTSW	17	32492330	missense	probably benign	0.30
R1874:Cyp4f39	UTSW	17	32483324	missense	probably damaging	1.00
R1920:Cyp4f39	UTSW	17	32483291	missense	probably benign	0.00
R2049:Cyp4f39	UTSW	17	32482138	missense	probably benign	0.41
R2139:Cyp4f39	UTSW	17	32491189	missense	probably benign	0.01
R2212:Cyp4f39	UTSW	17	32487063	missense	possibly damaging	0.62
R3416:Cyp4f39	UTSW	17	32489742	missense	possibly damaging	0.72
R3417:Cyp4f39	UTSW	17	32489742	missense	possibly damaging	0.72
R4486:Cyp4f39	UTSW	17	32483454	missense	probably damaging	1.00
R5023:Cyp4f39	UTSW	17	32481104	missense	probably damaging	1.00
R5523:Cyp4f39	UTSW	17	32470833	missense	probably benign	0.10
R5714:Cyp4f39	UTSW	17	32481825	missense	probably damaging	1.00
R6010:Cyp4f39	UTSW	17	32482186	missense	probably damaging	0.99
R6312:Cyp4f39	UTSW	17	32483294	missense	probably benign	0.00
R6477:Cyp4f39	UTSW	17	32481817	missense	probably damaging	0.99
R6950:Cyp4f39	UTSW	17	32492306	missense	probably damaging	1.00
R7228:Cyp4f39	UTSW	17	32491829	missense	probably damaging	1.00
R7311:Cyp4f39	UTSW	17	32489655	missense	probably damaging	1.00
R7341:Cyp4f39	UTSW	17	32486954	missense	probably damaging	1.00
R7345:Cyp4f39	UTSW	17	32486779	missense	probably damaging	1.00
R7405:Cyp4f39	UTSW	17	32481815	missense	probably benign	0.01
R7522:Cyp4f39	UTSW	17	32486972	missense	probably damaging	1.00
R7842:Cyp4f39	UTSW	17	32483317	missense	probably benign	0.01
R8223:Cyp4f39	UTSW	17	32470865	missense	probably benign	0.10
R8315:Cyp4f39	UTSW	17	32482202	missense	probably benign	0.41
R8469:Cyp4f39	UTSW	17	32492366	missense	probably damaging	1.00

Posted On

2013-12-03