Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Cyp4f39'

570168

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f39

Ensembl Gene

ENSMUSG00000061126

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 39

Synonyms

4732474A20Rik

MMRRC Submission

Accession Numbers

Genbank: NM_177307; MGI: 2445210

Essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32468462-32492479 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32486779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 318 (G318R)

Ref Sequence

ENSEMBL: ENSMUSP00000003413 (fasta)

Gene Model

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

AlphaFold

Q8BGU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000003413
AA Change: G318R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: G318R

Domain	Start	End	E-Value	Type
transmembrane domain	18	40	N/A	INTRINSIC
Pfam:p450	60	525	5.8e-124	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,955,910	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,466,478	R934Q	possibly damaging	Het
Atad5	T	C	11: 80,096,006	S640P	probably damaging	Het
B3galnt2	C	T	13: 13,980,480		probably null	Het
B430305J03Rik	T	C	3: 61,364,118	S69G	unknown	Het
C87499	T	C	4: 88,628,179	K309E	possibly damaging	Het
Cd163	A	T	6: 124,318,938	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,816	S906P	probably damaging	Het
D630003M21Rik	C	T	2: 158,217,209	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583	L139P	probably damaging	Het
Dcc	A	G	18: 71,378,824	V840A	probably benign	Het
Dnhd1	A	T	7: 105,703,967	I2776L	probably benign	Het
Fam166b	T	C	4: 43,428,022	D145G	possibly damaging	Het
Fbxo24	G	T	5: 137,621,261	F234L	probably damaging	Het
Gm21190	T	C	5: 15,527,904		probably null	Het
Grhl3	C	T	4: 135,546,246	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,645,670	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,304,773	R133S	probably benign	Het
Ipo4	C	T	14: 55,635,531	R23Q	probably benign	Het
Klc3	G	A	7: 19,394,889	T481M	probably benign	Het
Map2k6	A	T	11: 110,492,908	I127F		Het
Mapk8	A	T	14: 33,408,111	N63K	probably damaging	Het
Med13l	T	C	5: 118,742,760	W1306R	probably damaging	Het
Megf6	C	A	4: 154,267,315	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,708,024	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,714,659	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503	F838L	probably benign	Het
Nrm	A	G	17: 35,864,584	H194R	probably damaging	Het
Nup188	T	C	2: 30,340,601	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,960,127	D618E	probably damaging	Het
Olfr466	A	C	13: 65,152,743	N173T	possibly damaging	Het
Olfr506	C	T	7: 108,613,063	T252I	probably benign	Het
Olfr937	A	G	9: 39,060,579	L29P	probably damaging	Het
Olfr938	G	A	9: 39,078,334	S137F	probably damaging	Het
P2ry1	T	C	3: 61,003,674	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,491,923	F769L	probably benign	Het
Poc5	A	G	13: 96,396,796	E144G	probably damaging	Het
Pole	T	A	5: 110,303,903	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,349,119	F1159L	possibly damaging	Het
Rubcnl	A	G	14: 75,042,353	Y392C	probably benign	Het
Sec31a	T	C	5: 100,385,270	T539A	probably damaging	Het
Serpinh1	A	C	7: 99,346,356	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,796,160		probably null	Het
Soat2	A	G	15: 102,162,578	D469G	probably benign	Het
Speg	T	C	1: 75,384,835	L70P	probably damaging	Het
Spred2	T	C	11: 19,924,958		probably null	Het
Stac2	A	C	11: 98,042,613	S168A	probably damaging	Het
Stx1a	T	A	5: 135,037,188	D31E	probably benign	Het
Timeless	C	T	10: 128,249,754	T885M	probably damaging	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,695,615	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966	V1598A	unknown	Het
Zfat	A	T	15: 68,105,043	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,416,595	H296Y	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGAGCACGTGCAAGTAC -3'
(R):5'- ACTAGATGTTGTGTCATGACCTG -3'

Sequencing Primer
(F):5'- TGAGCACGTGCAAGTACTAAATACTC -3'
(R):5'- TCATGACCTGTGGGCAGACAG -3'

Posted On

2019-09-13