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

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R9402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32671697-32712294 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 32710183 bp (GRCm39)

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
Abca9	T	A	11: 110,049,154 (GRCm39)	Q218L	probably benign	Het
Atg2b	A	G	12: 105,614,682 (GRCm39)	F1083S	probably damaging	Het
Bche	T	C	3: 73,608,656 (GRCm39)	N257D	probably benign	Het
Cfap221	T	A	1: 119,860,551 (GRCm39)	M692L	probably benign	Het
Cfap46	G	T	7: 139,215,865 (GRCm39)	P1530Q	unknown	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Daam1	A	G	12: 72,006,604 (GRCm39)	T674A	probably benign	Het
Elp2	A	T	18: 24,759,220 (GRCm39)	I526L	probably benign	Het
Exoc4	T	A	6: 33,453,078 (GRCm39)	*523K	probably null	Het
Fbxl7	G	A	15: 26,552,589 (GRCm39)	S226L	probably damaging	Het
Fbxl9	T	A	8: 106,049,988 (GRCm39)	Y12F	probably benign	Het
Fry	G	A	5: 150,357,161 (GRCm39)	E1903K	possibly damaging	Het
Fry	G	A	5: 150,360,318 (GRCm39)	R1988K	probably damaging	Het
Gas1	A	T	13: 60,324,016 (GRCm39)	M206K	probably damaging	Het
Gbp10	T	A	5: 105,381,863 (GRCm39)	T96S	possibly damaging	Het
Gm14569	G	A	X: 35,694,549 (GRCm39)	P1387S	probably damaging	Het
Gpaa1	A	G	15: 76,216,418 (GRCm39)	T105A	probably benign	Het
Hoxc13	C	A	15: 102,830,051 (GRCm39)	C143*	probably null	Het
Htt	T	C	5: 35,006,324 (GRCm39)	I1411T	probably damaging	Het
Inava	T	G	1: 136,155,348 (GRCm39)	S86R	probably benign	Het
Jmy	C	T	13: 93,635,678 (GRCm39)	C46Y	probably damaging	Het
Klhl40	A	G	9: 121,609,482 (GRCm39)	Y453C	possibly damaging	Het
Krit1	T	A	5: 3,872,210 (GRCm39)	Y460N	possibly damaging	Het
Lamb3	C	A	1: 193,013,704 (GRCm39)	T526K		Het
Luzp1	T	A	4: 136,270,493 (GRCm39)	H905Q	probably damaging	Het
Lyst	T	A	13: 13,812,463 (GRCm39)	H958Q	probably benign	Het
Magi1	T	C	6: 94,260,278 (GRCm39)	N9S	probably benign	Het
Mmadhc	A	T	2: 50,171,119 (GRCm39)	V231E	probably benign	Het
Muc5b	T	A	7: 141,399,151 (GRCm39)	M364K	unknown	Het
Nae1	A	G	8: 105,254,817 (GRCm39)		probably null	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nlgn2	A	G	11: 69,718,933 (GRCm39)	F252S		Het
Nlrp9a	A	T	7: 26,270,030 (GRCm39)	N874I	possibly damaging	Het
Nodal	T	C	10: 61,259,379 (GRCm39)	I272T	probably damaging	Het
Or4a15	C	A	2: 89,193,123 (GRCm39)	G217*	probably null	Het
Or4c12	A	T	2: 89,774,284 (GRCm39)	Y58*	probably null	Het
Or51a24	G	A	7: 103,733,610 (GRCm39)	R226*	probably null	Het
Or52ab4	T	C	7: 102,988,196 (GRCm39)	S312P	probably benign	Het
Orm1	C	A	4: 63,263,369 (GRCm39)	Q61K	possibly damaging	Het
Pcdh17	T	C	14: 84,684,646 (GRCm39)	V371A	probably damaging	Het
Pcdhb19	C	T	18: 37,632,532 (GRCm39)	Q776*	probably null	Het
Phf14	A	G	6: 11,933,779 (GRCm39)	R214G	possibly damaging	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Pigz	A	G	16: 31,764,187 (GRCm39)	E415G	probably damaging	Het
Pramel5	T	C	4: 143,998,026 (GRCm39)	T406A	probably benign	Het
Prtg	A	G	9: 72,819,253 (GRCm39)	E1082G	probably benign	Het
Rtp3	A	G	9: 110,815,031 (GRCm39)	C445R	unknown	Het
Scn3b	A	T	9: 40,193,852 (GRCm39)	E193V	probably damaging	Het
Scn7a	A	T	2: 66,510,456 (GRCm39)	N1315K	probably damaging	Het
Snx14	C	T	9: 88,289,490 (GRCm39)	G254D	probably damaging	Het
Srbd1	T	C	17: 86,406,705 (GRCm39)	D560G	probably benign	Het
Srp72	T	A	5: 77,124,329 (GRCm39)	L65*	probably null	Het
Steap1	T	A	5: 5,790,664 (GRCm39)	I95F		Het
Taf3	A	G	2: 9,955,923 (GRCm39)		probably null	Het
Taok2	T	C	7: 126,469,400 (GRCm39)	N1143D		Het
Tas2r114	C	T	6: 131,666,894 (GRCm39)	G45S	possibly damaging	Het
Tcerg1l	T	C	7: 137,811,551 (GRCm39)	K548E	probably damaging	Het
Tcp1	T	A	17: 13,141,505 (GRCm39)	L328Q	probably benign	Het
Tns2	A	G	15: 102,021,623 (GRCm39)	H1096R	probably damaging	Het
Trps1	A	T	15: 50,709,652 (GRCm39)	Y233N	probably damaging	Het
Tubgcp6	A	G	15: 88,987,064 (GRCm39)	V1303A	probably benign	Het
Ugt1a2	T	C	1: 88,128,684 (GRCm39)	F109S	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Zfp748	A	G	13: 67,693,511 (GRCm39)	V54A	probably benign	Het

Other mutations in Cyp4f39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Cyp4f39	APN	17	32,689,886 (GRCm39)	missense	probably damaging	1.00
IGL00822:Cyp4f39	APN	17	32,689,806 (GRCm39)	missense	probably benign	0.03
IGL00857:Cyp4f39	APN	17	32,708,631 (GRCm39)	missense	probably benign	0.08
IGL01380:Cyp4f39	APN	17	32,700,832 (GRCm39)	missense	probably damaging	1.00
IGL01532:Cyp4f39	APN	17	32,689,928 (GRCm39)	splice site	probably benign
IGL01756:Cyp4f39	APN	17	32,702,415 (GRCm39)	nonsense	probably null
IGL02090:Cyp4f39	APN	17	32,689,932 (GRCm39)	splice site	probably benign
IGL02477:Cyp4f39	APN	17	32,708,619 (GRCm39)	missense	probably benign	0.40
IGL02824:Cyp4f39	APN	17	32,687,659 (GRCm39)	critical splice donor site	probably null
N/A:Cyp4f39	UTSW	17	32,687,655 (GRCm39)	missense	probably benign	0.03
R0145:Cyp4f39	UTSW	17	32,705,934 (GRCm39)	missense	possibly damaging	0.92
R0288:Cyp4f39	UTSW	17	32,711,410 (GRCm39)	missense	probably benign	0.01
R1676:Cyp4f39	UTSW	17	32,701,176 (GRCm39)	missense	probably benign	0.41
R1677:Cyp4f39	UTSW	17	32,711,304 (GRCm39)	missense	probably benign	0.30
R1874:Cyp4f39	UTSW	17	32,702,298 (GRCm39)	missense	probably damaging	1.00
R1920:Cyp4f39	UTSW	17	32,702,265 (GRCm39)	missense	probably benign	0.00
R2049:Cyp4f39	UTSW	17	32,701,112 (GRCm39)	missense	probably benign	0.41
R2139:Cyp4f39	UTSW	17	32,710,163 (GRCm39)	missense	probably benign	0.01
R2212:Cyp4f39	UTSW	17	32,706,037 (GRCm39)	missense	possibly damaging	0.62
R3416:Cyp4f39	UTSW	17	32,708,716 (GRCm39)	missense	possibly damaging	0.72
R3417:Cyp4f39	UTSW	17	32,708,716 (GRCm39)	missense	possibly damaging	0.72
R4486:Cyp4f39	UTSW	17	32,702,428 (GRCm39)	missense	probably damaging	1.00
R5023:Cyp4f39	UTSW	17	32,700,078 (GRCm39)	missense	probably damaging	1.00
R5523:Cyp4f39	UTSW	17	32,689,807 (GRCm39)	missense	probably benign	0.10
R5714:Cyp4f39	UTSW	17	32,700,799 (GRCm39)	missense	probably damaging	1.00
R6010:Cyp4f39	UTSW	17	32,701,160 (GRCm39)	missense	probably damaging	0.99
R6312:Cyp4f39	UTSW	17	32,702,268 (GRCm39)	missense	probably benign	0.00
R6477:Cyp4f39	UTSW	17	32,700,791 (GRCm39)	missense	probably damaging	0.99
R6950:Cyp4f39	UTSW	17	32,711,280 (GRCm39)	missense	probably damaging	1.00
R7228:Cyp4f39	UTSW	17	32,710,803 (GRCm39)	missense	probably damaging	1.00
R7311:Cyp4f39	UTSW	17	32,708,629 (GRCm39)	missense	probably damaging	1.00
R7341:Cyp4f39	UTSW	17	32,705,928 (GRCm39)	missense	probably damaging	1.00
R7345:Cyp4f39	UTSW	17	32,705,753 (GRCm39)	missense	probably damaging	1.00
R7405:Cyp4f39	UTSW	17	32,700,789 (GRCm39)	missense	probably benign	0.01
R7522:Cyp4f39	UTSW	17	32,705,946 (GRCm39)	missense	probably damaging	1.00
R7842:Cyp4f39	UTSW	17	32,702,291 (GRCm39)	missense	probably benign	0.01
R8223:Cyp4f39	UTSW	17	32,689,839 (GRCm39)	missense	probably benign	0.10
R8315:Cyp4f39	UTSW	17	32,701,176 (GRCm39)	missense	probably benign	0.41
R8469:Cyp4f39	UTSW	17	32,711,340 (GRCm39)	missense	probably damaging	1.00
R8789:Cyp4f39	UTSW	17	32,710,848 (GRCm39)	missense	probably damaging	1.00
R8865:Cyp4f39	UTSW	17	32,702,271 (GRCm39)	missense	probably damaging	1.00
R9049:Cyp4f39	UTSW	17	32,705,965 (GRCm39)	missense	probably damaging	0.99
R9115:Cyp4f39	UTSW	17	32,711,296 (GRCm39)	missense	probably damaging	1.00
R9571:Cyp4f39	UTSW	17	32,702,196 (GRCm39)	missense	probably damaging	1.00
R9600:Cyp4f39	UTSW	17	32,705,920 (GRCm39)	missense	probably damaging	1.00
R9641:Cyp4f39	UTSW	17	32,705,982 (GRCm39)	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