Mutagenetix > Incidental Mutation

Incidental Mutation 'R9402:Cyp4f39'

711318

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 #

R9402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32468462-32492479 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 32491209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003413 (fasta)

Gene Model

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

AlphaFold

Q8BGU0

Predicted Effect

probably null
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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	G	1: 136,227,610	S86R	probably benign	Het
Abca9	T	A	11: 110,158,328	Q218L	probably benign	Het
Atg2b	A	G	12: 105,648,423	F1083S	probably damaging	Het
Bche	T	C	3: 73,701,323	N257D	probably benign	Het
Cfap221	T	A	1: 119,932,821	M692L	probably benign	Het
Cfap46	G	T	7: 139,635,949	P1530Q	unknown	Het
Crim1	CCGC	CC	17: 78,350,865		probably null	Het
Daam1	A	G	12: 71,959,830	T674A	probably benign	Het
Elp2	A	T	18: 24,626,163	I526L	probably benign	Het
Exoc4	T	A	6: 33,476,143	*523K	probably null	Het
Fbxl7	G	A	15: 26,552,503	S226L	probably damaging	Het
Fry	G	A	5: 150,433,696	E1903K	possibly damaging	Het
Fry	G	A	5: 150,436,853	R1988K	probably damaging	Het
Gas1	A	T	13: 60,176,202	M206K	probably damaging	Het
Gbp10	T	A	5: 105,233,997	T96S	possibly damaging	Het
Gm14569	G	A	X: 36,430,896	P1387S	probably damaging	Het
Gpaa1	A	G	15: 76,332,218	T105A	probably benign	Het
Hoxc13	C	A	15: 102,921,616	C143*	probably null	Het
Htt	T	C	5: 34,848,980	I1411T	probably damaging	Het
Jmy	C	T	13: 93,499,170	C46Y	probably damaging	Het
Klhl40	A	G	9: 121,780,416	Y453C	possibly damaging	Het
Krit1	T	A	5: 3,822,210	Y460N	possibly damaging	Het
Lamb3	C	A	1: 193,331,396	T526K		Het
Lrrc29	T	A	8: 105,323,356	Y12F	probably benign	Het
Luzp1	T	A	4: 136,543,182	H905Q	probably damaging	Het
Lyst	T	A	13: 13,637,878	H958Q	probably benign	Het
Magi1	T	C	6: 94,283,297	N9S	probably benign	Het
Mmadhc	A	T	2: 50,281,107	V231E	probably benign	Het
Muc5b	T	A	7: 141,845,414	M364K	unknown	Het
Nae1	A	G	8: 104,528,185		probably null	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nlgn2	A	G	11: 69,828,107	F252S		Het
Nlrp9a	A	T	7: 26,570,605	N874I	possibly damaging	Het
Nodal	T	C	10: 61,423,600	I272T	probably damaging	Het
Olfr1234	C	A	2: 89,362,779	G217*	probably null	Het
Olfr1259	A	T	2: 89,943,940	Y58*	probably null	Het
Olfr599	T	C	7: 103,338,989	S312P	probably benign	Het
Olfr645	G	A	7: 104,084,403	R226*	probably null	Het
Orm1	C	A	4: 63,345,132	Q61K	possibly damaging	Het
Pcdh17	T	C	14: 84,447,206	V371A	probably damaging	Het
Pcdhb19	C	T	18: 37,499,479	Q776*	probably null	Het
Phf14	A	G	6: 11,933,780	R214G	possibly damaging	Het
Phf3	G	A	1: 30,811,847	T1142M	probably damaging	Het
Pigz	A	G	16: 31,945,369	E415G	probably damaging	Het
Pramel5	T	C	4: 144,271,456	T406A	probably benign	Het
Prtg	A	G	9: 72,911,971	E1082G	probably benign	Het
Rtp3	A	G	9: 110,985,963	C445R	unknown	Het
Scn3b	A	T	9: 40,282,556	E193V	probably damaging	Het
Scn7a	A	T	2: 66,680,112	N1315K	probably damaging	Het
Snx14	C	T	9: 88,407,437	G254D	probably damaging	Het
Srbd1	T	C	17: 86,099,277	D560G	probably benign	Het
Srp72	T	A	5: 76,976,482	L65*	probably null	Het
Steap1	T	A	5: 5,740,664	I95F		Het
Taf3	A	G	2: 9,951,112		probably null	Het
Taok2	T	C	7: 126,870,228	N1143D		Het
Tas2r114	C	T	6: 131,689,931	G45S	possibly damaging	Het
Tcerg1l	T	C	7: 138,209,822	K548E	probably damaging	Het
Tcp1	T	A	17: 12,922,618	L328Q	probably benign	Het
Tns2	A	G	15: 102,113,188	H1096R	probably damaging	Het
Trps1	A	T	15: 50,846,256	Y233N	probably damaging	Het
Tubgcp6	A	G	15: 89,102,861	V1303A	probably benign	Het
Ugt1a2	T	C	1: 88,200,962	F109S	possibly damaging	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Zfp748	A	G	13: 67,545,392	V54A	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
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
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'- TACGACTGCAGGAAGAGCTG -3'
(R):5'- GGGGCCATTTGTTCCAATCTATC -3'

Sequencing Primer
(F):5'- CTGCAGGAAGAGCTGAGGTG -3'
(R):5'- CTTTAAGGTCCATGAGGGCATAC -3'

Posted On

2022-05-16