Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:Cyp4f39'

294983

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: 0.468) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

32468462-32492479 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32489645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 389 (T389A)

Ref Sequence

ENSEMBL: ENSMUSP00000003413 (fasta)

Gene Model

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

AlphaFold

Q8BGU0

Predicted Effect

probably benign
Transcript: ENSMUST00000003413
AA Change: T389A

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: T389A

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,746	I61F	probably benign	Het
Abr	T	C	11: 76,461,360	K280E	probably damaging	Het
Acaca	T	C	11: 84,307,168		probably benign	Het
Cep131	C	T	11: 120,070,580	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858	N613D	unknown	Het
D630003M21Rik	T	C	2: 158,217,488	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,850,589		probably null	Het
Elp3	T	C	14: 65,563,311	T283A	probably benign	Het
Fads3	C	A	19: 10,056,442	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,202,575	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,440,028	I208M	probably benign	Het
Fbxw17	G	A	13: 50,423,817	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,379,978	T140M	probably damaging	Het
Hspa14	C	T	2: 3,496,624	S277N	probably damaging	Het
Hspg2	C	T	4: 137,544,512		probably benign	Het
Ing2	G	T	8: 47,669,268	R82S	possibly damaging	Het
Kat6a	A	G	8: 22,929,300	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,409,623	M445V	probably benign	Het
Lifr	T	G	15: 7,186,923	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,865,770	M789K	probably benign	Het
Myom3	T	A	4: 135,779,368	L484Q	probably benign	Het
Nav2	T	A	7: 49,582,875	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,323,647		probably null	Het
Nsun7	T	A	5: 66,276,649	I214K	probably damaging	Het
Olfr181	T	C	16: 58,925,763	I269M	probably benign	Het
Olfr898	C	T	9: 38,349,125	S8L	probably benign	Het
Osm	T	A	11: 4,239,604	N129K	probably damaging	Het
Plce1	C	T	19: 38,719,553		probably benign	Het
Plch1	A	G	3: 63,753,293	F302L	probably damaging	Het
Pld2	T	C	11: 70,540,925	V27A	possibly damaging	Het
Prex2	A	G	1: 11,204,154	D1350G	probably benign	Het
Psme4	T	A	11: 30,842,083	V1190D	probably damaging	Het
Sema3g	G	T	14: 31,227,866	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,365,897	M1K	probably null	Het
Sult6b2	G	A	6: 142,801,721	P101S	probably damaging	Het
Trem3	G	A	17: 48,249,836	V112I	probably benign	Het
Ttll9	T	A	2: 153,000,197	F324I	possibly damaging	Het
Ttn	T	A	2: 76,726,760	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,436,205	K2639E	probably damaging	Het
Vwce	T	C	19: 10,664,618		probably null	Het
Zbtb14	T	A	17: 69,387,695	D129E	probably benign	Het
Zmym6	C	T	4: 127,078,502	Q16*	probably null	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
IGL01532:Cyp4f39	APN	17	32470954	splice site	probably benign
IGL01756:Cyp4f39	APN	17	32483441	nonsense	probably null
IGL02090:Cyp4f39	APN	17	32470958	splice site	probably benign
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
R8789:Cyp4f39	UTSW	17	32491874	missense	probably damaging	1.00
R8865:Cyp4f39	UTSW	17	32483297	missense	probably damaging	1.00
R9049:Cyp4f39	UTSW	17	32486991	missense	probably damaging	0.99
R9115:Cyp4f39	UTSW	17	32492322	missense	probably damaging	1.00
R9402:Cyp4f39	UTSW	17	32491209	critical splice donor site	probably null
R9571:Cyp4f39	UTSW	17	32483222	missense	probably damaging	1.00
R9600:Cyp4f39	UTSW	17	32486946	missense	probably damaging	1.00
R9641:Cyp4f39	UTSW	17	32487008	missense	probably damaging	0.99

Posted On

2015-04-16