Mutagenetix > Incidental Mutation

Incidental Mutation 'R2049:Cyp4f39'

226284

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f39

Ensembl Gene

ENSMUSG00000061126

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 39

Synonyms

4732474A20Rik

MMRRC Submission

040056-MU

Accession Numbers

Genbank: NM_177307; MGI: 2445210

Essential gene?

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

Stock #

R2049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32468462-32492479 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32482138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 201 (F201L)

Ref Sequence

ENSEMBL: ENSMUSP00000003413 (fasta)

Gene Model

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

AlphaFold

Q8BGU0

Predicted Effect

probably benign
Transcript: ENSMUST00000003413
AA Change: F201L

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: F201L

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

Meta Mutation Damage Score

0.3124

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (118/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,584,987	R8*	probably null	Het
Abhd17a	A	G	10: 80,585,606		probably null	Het
Acsm1	A	G	7: 119,656,039	R415G	probably damaging	Het
Acta1	G	T	8: 123,892,064	T360N	probably benign	Het
Adam6a	T	A	12: 113,544,429	S141T	probably benign	Het
Adgrd1	G	T	5: 129,115,095	K76N	probably benign	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Agps	T	A	2: 75,858,926	M156K	probably benign	Het
Agxt	A	G	1: 93,137,315	I149V	probably benign	Het
Aqp2	A	G	15: 99,579,366	T72A	probably damaging	Het
Arhgap18	T	A	10: 26,849,942	D54E	probably benign	Het
Asb8	C	A	15: 98,136,069	E202*	probably null	Het
Bmp5	A	G	9: 75,893,790	I401V	probably damaging	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cep112	A	G	11: 108,606,325	E697G	probably damaging	Het
Cerk	G	A	15: 86,142,808	S167L	probably benign	Het
Chrm3	T	A	13: 9,878,335	I222F	probably damaging	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Commd10	A	T	18: 46,963,747	T74S	probably benign	Het
Dennd4a	A	G	9: 64,889,605	T860A	possibly damaging	Het
Dlg5	A	T	14: 24,154,647	I1253N	probably damaging	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dnah9	A	G	11: 66,044,683	M1970T	probably damaging	Het
Doxl2	T	A	6: 48,977,755	L609*	probably null	Het
Dsc3	A	T	18: 19,989,680	D62E	possibly damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Dusp7	C	T	9: 106,373,897	T407M	probably damaging	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Entpd5	A	G	12: 84,396,858	I12T	probably benign	Het
Espn	T	C	4: 152,121,257	E408G	probably damaging	Het
Fam160a2	A	T	7: 105,389,839	D64E	probably damaging	Het
Gdpd3	A	G	7: 126,768,594	T200A	probably damaging	Het
Gli1	A	G	10: 127,336,727	L182P	probably damaging	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gm5134	G	A	10: 76,004,884	A521T	possibly damaging	Het
Gm8300	A	G	12: 87,517,276	D127G	unknown	Het
Gm960	A	G	19: 4,698,605		probably benign	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
H2-M10.1	T	C	17: 36,325,216	D153G	possibly damaging	Het
Helb	A	T	10: 120,106,021	M254K	possibly damaging	Het
I0C0044D17Rik	A	G	4: 98,820,296		probably benign	Het
Igfn1	T	A	1: 135,970,638	Q730L	probably benign	Het
Igfn1	AGGG	AGG	1: 135,974,852		probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jmjd1c	T	A	10: 67,157,998	L86*	probably null	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kif14	A	G	1: 136,487,080	N768S	probably benign	Het
Kif14	A	G	1: 136,510,167	E1199G	possibly damaging	Het
Klhl29	A	G	12: 5,137,876	S163P	probably damaging	Het
Kmt2c	C	A	5: 25,285,079	Q4287H	probably damaging	Het
Krt82	T	A	15: 101,545,156	Q265L	probably damaging	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myom2	T	G	8: 15,106,379	I742S	probably damaging	Het
Narf	A	T	11: 121,250,369	R310*	probably null	Het
Nktr	T	A	9: 121,741,694	D167E	probably damaging	Het
Nle1	A	G	11: 82,905,366	W183R	probably damaging	Het
Npas3	A	G	12: 54,062,088	N425S	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1197	A	T	2: 88,728,745	Y285N	probably damaging	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396	T238I	possibly damaging	Het
Olfr816	A	G	10: 129,912,167	V37A	probably benign	Het
Olfr965	A	T	9: 39,720,115	D296V	probably damaging	Het
Olfr984	T	A	9: 40,101,119	I124L	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Otol1	T	A	3: 70,018,836	F115I	probably benign	Het
Parp8	T	A	13: 116,894,886	D430V	probably benign	Het
Pex7	T	A	10: 19,894,315	H123L	probably damaging	Het
Pkhd1l1	T	A	15: 44,547,513		probably benign	Het
Pkhd1l1	G	A	15: 44,581,741	D3670N	probably damaging	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Plekha4	A	G	7: 45,553,798	D704G	probably benign	Het
Plxnb2	T	A	15: 89,159,002	N1453I	probably damaging	Het
Pms1	T	A	1: 53,281,988	I29F	probably damaging	Het
Ppp1r1a	G	A	15: 103,531,406	T153I	probably damaging	Het
Pramef8	T	A	4: 143,416,871	L69Q	probably damaging	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptpre	A	G	7: 135,670,695		probably benign	Het
Ptprt	A	T	2: 161,534,545	I1312N	probably damaging	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rims1	C	T	1: 22,596,435	C155Y	probably damaging	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Sltm	G	A	9: 70,581,301	G578S	probably benign	Het
Smyd5	A	G	6: 85,444,318	E338G	probably benign	Het
Snx2	G	A	18: 53,194,444	V81M	probably damaging	Het
Sp2	G	T	11: 96,961,365	N244K	probably benign	Het
Sspo	C	A	6: 48,460,763		probably benign	Het
Sspo	A	C	6: 48,463,531	D1568A	probably benign	Het
Ssrp1	T	C	2: 85,041,427		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,746,741		probably benign	Het
Syt7	G	A	19: 10,439,213	R138Q	probably benign	Het
Taar7f	T	C	10: 24,050,425	Y306H	possibly damaging	Het
Tbccd1	T	C	16: 22,818,541		probably null	Het
Tex261	A	G	6: 83,772,259	Y119H	probably damaging	Het
Tmem131l	T	G	3: 83,942,788	E234D	probably damaging	Het
Tnnt2	TG	TGG	1: 135,846,761		probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257	A157V	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Uso1	G	A	5: 92,181,936	G427R	probably damaging	Het
Usp15	A	T	10: 123,119,137	V912D	probably damaging	Het
Vmn1r20	T	C	6: 57,431,958	S90P	probably damaging	Het
Vmn1r32	T	C	6: 66,553,561	K77R	probably damaging	Het
Vmn2r100	A	G	17: 19,522,050	K229E	probably benign	Het
Vmn2r106	A	G	17: 20,268,304	V611A	possibly damaging	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het
Zbtb21	G	T	16: 97,950,155	P804H	probably damaging	Het
Zdhhc3	T	C	9: 123,100,537	D11G	probably damaging	Het
Zfhx3	A	G	8: 108,945,177	T1324A	probably benign	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zfp608	G	T	18: 54,895,565	L1259I	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTAGTAGCCGGAAGAGGTTGG -3'
(R):5'- TGATGTCACCTTGGGGCTTAC -3'

Sequencing Primer
(F):5'- TGAGGCCGCCAATGAAGTG -3'
(R):5'- GGCTTACCCAAGAAGAAAAAGAAAG -3'

Posted On

2014-09-17