Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01756:Cyp4f39'

153443

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

Essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

IGL01756

Quality Score

Status

Chromosome

Chromosomal Location

32671697-32712294 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 32702415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 304 (L304*)

Ref Sequence

ENSEMBL: ENSMUSP00000003413 (fasta)

Gene Model

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

AlphaFold

Q8BGU0

Predicted Effect

probably null
Transcript: ENSMUST00000003413
AA Change: L304*

SMART Domains

Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: L304*

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atrnl1	A	G	19: 57,641,380 (GRCm39)	N343D	probably benign	Het
Birc6	T	C	17: 74,947,203 (GRCm39)	V2974A	probably benign	Het
Cngb3	A	C	4: 19,367,850 (GRCm39)	D253A	probably damaging	Het
Cog4	A	T	8: 111,580,391 (GRCm39)	K154*	probably null	Het
Col6a3	T	A	1: 90,706,884 (GRCm39)	E2076D	unknown	Het
Cox7a2	T	G	9: 79,665,837 (GRCm39)	T15P	probably benign	Het
Gucy2e	A	T	11: 69,123,678 (GRCm39)	L407Q	probably damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Hipk4	T	A	7: 27,227,968 (GRCm39)	L238*	probably null	Het
Igf2r	C	T	17: 12,902,709 (GRCm39)	R2447Q	probably benign	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Klkb1	T	A	8: 45,725,361 (GRCm39)	K526M	probably damaging	Het
Ninl	T	C	2: 150,821,436 (GRCm39)	E66G	probably damaging	Het
Pde8b	A	G	13: 95,182,895 (GRCm39)	S288P	probably damaging	Het
Rigi	A	T	4: 40,209,934 (GRCm39)	N666K	probably damaging	Het
Sar1a	T	A	10: 61,522,235 (GRCm39)	M109K	probably benign	Het
Snx18	T	A	13: 113,754,052 (GRCm39)	T294S	probably benign	Het
Srek1	C	T	13: 103,897,090 (GRCm39)	D84N	probably damaging	Het
Trem1	G	A	17: 48,544,141 (GRCm39)	W55*	probably null	Het
Tsnaxip1	A	T	8: 106,569,420 (GRCm39)		probably benign	Het
Vmn2r43	A	G	7: 8,258,583 (GRCm39)	L210S	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
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
R9402:Cyp4f39	UTSW	17	32,710,183 (GRCm39)	critical splice donor site	probably null
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

Posted On

2014-02-04