Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01380:Cyp4f39'

78818

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: 0.340) question?

Stock #

IGL01380

Quality Score

Status

Chromosome

Chromosomal Location

32671697-32712294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32700832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 167 (I167S)

Ref Sequence

ENSEMBL: ENSMUSP00000003413 (fasta)

Gene Model

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

AlphaFold

Q8BGU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000003413
AA Change: I167S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: I167S

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,840,053 (GRCm39)	T42A	probably benign	Het
Abcc10	C	A	17: 46,634,948 (GRCm39)	V352L	possibly damaging	Het
Ankrd44	A	T	1: 54,766,724 (GRCm39)	M488K	probably benign	Het
Ano8	A	G	8: 71,933,453 (GRCm39)		probably benign	Het
Atp2a1	T	A	7: 126,047,942 (GRCm39)	M623L	possibly damaging	Het
Atxn10	G	T	15: 85,260,896 (GRCm39)	E214*	probably null	Het
Btla	A	C	16: 45,070,716 (GRCm39)	D225A	probably benign	Het
C030048H21Rik	G	A	2: 26,146,659 (GRCm39)	Q1218*	probably null	Het
Cacna1a	A	G	8: 85,285,746 (GRCm39)	Y750C	probably damaging	Het
Ccdc15	A	T	9: 37,187,853 (GRCm39)		probably benign	Het
Ccdc18	T	A	5: 108,328,753 (GRCm39)	I724N	probably damaging	Het
Cluh	T	A	11: 74,556,772 (GRCm39)	F937L	probably benign	Het
Clybl	G	T	14: 122,616,761 (GRCm39)	A259S	probably benign	Het
Dchs1	T	A	7: 105,411,418 (GRCm39)	D1566V	probably damaging	Het
Dnah3	C	T	7: 119,525,787 (GRCm39)	A3867T	probably damaging	Het
Dtwd1	T	A	2: 126,001,847 (GRCm39)	L189Q	probably benign	Het
Dusp10	T	C	1: 183,801,211 (GRCm39)	I326T	possibly damaging	Het
Eaf1	T	A	14: 31,219,767 (GRCm39)		probably benign	Het
Eif3c	C	T	7: 126,163,585 (GRCm39)		probably benign	Het
Fam169a	C	T	13: 97,228,459 (GRCm39)	T44M	probably damaging	Het
Fam184a	T	C	10: 53,570,782 (GRCm39)		probably benign	Het
Fam25a	C	T	14: 34,075,655 (GRCm39)	A46T	probably null	Het
Gckr	A	G	5: 31,456,977 (GRCm39)		probably benign	Het
Gfra2	G	T	14: 71,204,586 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,703 (GRCm38)		probably null	Het
H2-Eb2	G	T	17: 34,554,783 (GRCm39)	L228F	probably benign	Het
Igf2r	T	C	17: 12,914,261 (GRCm39)	N1736S	probably benign	Het
Izumo1	T	G	7: 45,276,519 (GRCm39)	S361A	probably benign	Het
Klri1	T	C	6: 129,675,761 (GRCm39)	I170V	probably benign	Het
L3mbtl2	C	T	15: 81,555,326 (GRCm39)	A193V	possibly damaging	Het
Lats1	T	A	10: 7,567,544 (GRCm39)	M105K	possibly damaging	Het
Lrpprc	T	C	17: 85,030,158 (GRCm39)	D1080G	probably benign	Het
Lrrc74a	A	T	12: 86,808,496 (GRCm39)	M425L	possibly damaging	Het
Mfsd13a	G	T	19: 46,356,347 (GRCm39)	D151Y	probably damaging	Het
Mst1	G	A	9: 107,961,787 (GRCm39)	E640K	probably damaging	Het
Napsa	T	C	7: 44,236,098 (GRCm39)	V379A	probably damaging	Het
Or1e16	A	T	11: 73,286,017 (GRCm39)	M277K	probably damaging	Het
Or55b4	C	T	7: 102,133,592 (GRCm39)	C245Y	probably damaging	Het
Or7c19	C	A	8: 85,957,775 (GRCm39)	S217Y	probably damaging	Het
Or7c19	A	T	8: 85,957,958 (GRCm39)	Y278F	possibly damaging	Het
Otop3	T	C	11: 115,237,237 (GRCm39)	V567A	probably damaging	Het
Oxsr1	A	T	9: 119,089,167 (GRCm39)		probably benign	Het
Pak2	A	T	16: 31,860,362 (GRCm39)	V167E	probably benign	Het
Pcdhb16	A	G	18: 37,612,498 (GRCm39)	H486R	probably benign	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rbm6	T	C	9: 107,665,548 (GRCm39)	D616G	probably damaging	Het
Sf3b1	T	C	1: 55,027,108 (GRCm39)	Y1249C	probably damaging	Het
Sipa1l3	T	C	7: 29,030,797 (GRCm39)	H534R	possibly damaging	Het
Slco1c1	T	C	6: 141,485,777 (GRCm39)	Y136H	probably damaging	Het
Smarca4	A	G	9: 21,590,369 (GRCm39)	M1333V	probably benign	Het
Smc4	A	G	3: 68,933,161 (GRCm39)	D54G	probably damaging	Het
Spag5	T	A	11: 78,195,443 (GRCm39)	V250E	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Suv39h2	T	A	2: 3,465,296 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,968,005 (GRCm39)	H63L	probably damaging	Het
Tex2	G	A	11: 106,435,141 (GRCm39)	Q264*	probably null	Het
Thnsl2	A	C	6: 71,115,740 (GRCm39)	S156A	probably benign	Het
Tmtc4	G	T	14: 123,163,366 (GRCm39)		probably benign	Het
Usp25	T	C	16: 76,890,566 (GRCm39)	L758P	probably benign	Het
Zfyve1	G	A	12: 83,599,281 (GRCm39)	R144C	probably damaging	Het
Zpld1	A	G	16: 55,072,133 (GRCm39)	V42A	probably damaging	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
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
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

2013-11-05