Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01960:Cyp4f40'

182368

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp4f40

Ensembl Gene

ENSMUSG00000090700

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 40

Synonyms

EG631304

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL01960

Quality Score

Status

Chromosome

Chromosomal Location

32877874-32895888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32878535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 26 (G26R)

Ref Sequence

ENSEMBL: ENSMUSP00000129536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165061]

AlphaFold

G3UW81

Predicted Effect

probably benign
Transcript: ENSMUST00000165061
AA Change: G26R

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: G26R

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	52	515	2.2e-130	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, CYP4F11, 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. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	A	4: 129,906,177 (GRCm39)		probably benign	Het
Adh7	T	C	3: 137,932,043 (GRCm39)	I219T	probably damaging	Het
Ankmy1	C	A	1: 92,799,385 (GRCm39)		probably benign	Het
Aoc1	A	G	6: 48,885,537 (GRCm39)	I681V	probably benign	Het
Arfgap3	T	C	15: 83,197,758 (GRCm39)	T333A	probably benign	Het
Cdc42ep4	A	G	11: 113,619,830 (GRCm39)	V187A	probably benign	Het
Dnah7b	T	A	1: 46,163,497 (GRCm39)		probably benign	Het
Dnajb4	T	C	3: 151,892,176 (GRCm39)	E219G	probably damaging	Het
Dnmt3b	A	G	2: 153,518,631 (GRCm39)	K578R	possibly damaging	Het
Dst	A	T	1: 34,329,570 (GRCm39)	D4649V	probably damaging	Het
Fam20c	T	C	5: 138,792,075 (GRCm39)	S391P	probably damaging	Het
Fbxw10	A	T	11: 62,767,582 (GRCm39)	Y801F	probably damaging	Het
Frem2	T	G	3: 53,429,725 (GRCm39)	E2775A	probably benign	Het
Frmd4b	A	T	6: 97,272,741 (GRCm39)	S830T	possibly damaging	Het
Gatad2a	T	G	8: 70,362,598 (GRCm39)	S581R	possibly damaging	Het
Gpcpd1	C	T	2: 132,381,818 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,226,158 (GRCm39)	L2505P	probably benign	Het
Igsf9b	A	G	9: 27,239,902 (GRCm39)	D649G	possibly damaging	Het
Impact	T	C	18: 13,107,815 (GRCm39)	C28R	probably benign	Het
Ino80d	G	T	1: 63,097,306 (GRCm39)	Q863K	probably damaging	Het
Iqsec1	A	C	6: 90,653,762 (GRCm39)	M675R	probably damaging	Het
Kcng3	C	T	17: 83,895,279 (GRCm39)	V396I	probably damaging	Het
Klhl18	A	T	9: 110,279,814 (GRCm39)	D60E	probably benign	Het
Krtap7-1	C	T	16: 89,305,156 (GRCm39)		probably benign	Het
Mal2	T	A	15: 54,461,941 (GRCm39)	Y145*	probably null	Het
Mcpt8	A	T	14: 56,319,864 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,758,393 (GRCm39)	D4810G	probably benign	Het
Med24	T	C	11: 98,598,368 (GRCm39)	I766V	probably benign	Het
Mga	G	A	2: 119,769,138 (GRCm39)	V1477M	probably damaging	Het
Mybph	T	A	1: 134,121,663 (GRCm39)	V112E	probably benign	Het
Nmur2	A	T	11: 55,931,337 (GRCm39)	S125T	probably damaging	Het
Or2w3	T	C	11: 58,556,691 (GRCm39)	V102A	probably benign	Het
Or6c212	A	G	10: 129,558,756 (GRCm39)	I219T	probably damaging	Het
Or8b44	A	T	9: 38,410,003 (GRCm39)	I13F	probably damaging	Het
Otop3	A	G	11: 115,231,795 (GRCm39)	N220S	probably damaging	Het
Pacsin1	T	G	17: 27,923,809 (GRCm39)		probably null	Het
Pcsk1	A	G	13: 75,241,286 (GRCm39)	R89G	possibly damaging	Het
Pde2a	A	T	7: 101,153,947 (GRCm39)	E509V	probably benign	Het
Pex1	T	C	5: 3,677,588 (GRCm39)		probably benign	Het
Ppp4r4	T	G	12: 103,547,753 (GRCm39)		probably benign	Het
Pygb	T	A	2: 150,655,403 (GRCm39)	N251K	probably benign	Het
Rsf1	C	T	7: 97,310,782 (GRCm39)	T504I	probably benign	Het
Slc5a11	A	T	7: 122,869,163 (GRCm39)	T584S	probably benign	Het
Smad2	G	A	18: 76,395,555 (GRCm39)		probably benign	Het
Srsf6	G	A	2: 162,775,674 (GRCm39)	R161H	probably damaging	Het
Tbx3	T	A	5: 119,820,708 (GRCm39)	S573T	probably benign	Het
Tecpr1	C	T	5: 144,153,737 (GRCm39)	R172Q	probably benign	Het
Ttn	T	A	2: 76,619,244 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,284,893 (GRCm39)	M542V	probably benign	Het
Unc80	T	C	1: 66,647,659 (GRCm39)		probably benign	Het
Vmn1r222	T	A	13: 23,416,315 (GRCm39)	K299N	probably benign	Het
Wwp1	A	T	4: 19,662,115 (GRCm39)		probably benign	Het
Zbtb46	T	A	2: 181,065,928 (GRCm39)	H74L	possibly damaging	Het
Zfp106	A	T	2: 120,354,524 (GRCm39)	L1416I	probably damaging	Het
Zfp106	A	G	2: 120,369,803 (GRCm39)	L73S	probably benign	Het
Zfp667	G	A	7: 6,308,336 (GRCm39)	G335R	probably benign	Het

Other mutations in Cyp4f40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Cyp4f40	APN	17	32,886,948 (GRCm39)	missense	probably benign	0.00
IGL01563:Cyp4f40	APN	17	32,892,930 (GRCm39)	missense	probably damaging	0.99
IGL01801:Cyp4f40	APN	17	32,895,279 (GRCm39)	missense	probably damaging	1.00
IGL02387:Cyp4f40	APN	17	32,886,984 (GRCm39)	missense	probably damaging	1.00
IGL02631:Cyp4f40	APN	17	32,894,609 (GRCm39)	splice site	probably benign
IGL02967:Cyp4f40	APN	17	32,893,222 (GRCm39)	missense	probably damaging	1.00
R0030:Cyp4f40	UTSW	17	32,894,947 (GRCm39)	missense	probably damaging	1.00
R0103:Cyp4f40	UTSW	17	32,895,283 (GRCm39)	nonsense	probably null
R0103:Cyp4f40	UTSW	17	32,895,282 (GRCm39)	missense	probably damaging	1.00
R0180:Cyp4f40	UTSW	17	32,878,641 (GRCm39)	missense	probably benign	0.00
R1413:Cyp4f40	UTSW	17	32,892,913 (GRCm39)	missense	probably benign	0.35
R2882:Cyp4f40	UTSW	17	32,887,047 (GRCm39)	missense	probably benign	0.05
R3903:Cyp4f40	UTSW	17	32,878,598 (GRCm39)	missense	possibly damaging	0.51
R4378:Cyp4f40	UTSW	17	32,887,003 (GRCm39)	missense	probably null	0.44
R4465:Cyp4f40	UTSW	17	32,890,186 (GRCm39)	missense	probably benign	0.00
R4808:Cyp4f40	UTSW	17	32,893,249 (GRCm39)	missense	probably benign	0.23
R5377:Cyp4f40	UTSW	17	32,894,590 (GRCm39)	missense	probably null	0.61
R5395:Cyp4f40	UTSW	17	32,888,827 (GRCm39)	missense	probably benign	0.01
R5523:Cyp4f40	UTSW	17	32,888,796 (GRCm39)	missense	probably damaging	0.98
R5889:Cyp4f40	UTSW	17	32,894,731 (GRCm39)	missense	probably benign	0.15
R6624:Cyp4f40	UTSW	17	32,890,154 (GRCm39)	missense	possibly damaging	0.82
R6692:Cyp4f40	UTSW	17	32,894,716 (GRCm39)	missense	possibly damaging	0.48
R6859:Cyp4f40	UTSW	17	32,894,923 (GRCm39)	missense	probably benign	0.19
R7792:Cyp4f40	UTSW	17	32,890,143 (GRCm39)	missense	probably damaging	1.00
R8324:Cyp4f40	UTSW	17	32,878,502 (GRCm39)	missense	probably benign	0.35
R8711:Cyp4f40	UTSW	17	32,894,962 (GRCm39)	critical splice donor site	probably benign
R8755:Cyp4f40	UTSW	17	32,886,957 (GRCm39)	nonsense	probably null
R8913:Cyp4f40	UTSW	17	32,886,810 (GRCm39)	missense	probably benign	0.05
R9013:Cyp4f40	UTSW	17	32,890,173 (GRCm39)	missense	probably benign
R9548:Cyp4f40	UTSW	17	32,890,158 (GRCm39)	missense	probably benign	0.01
Z1088:Cyp4f40	UTSW	17	32,892,976 (GRCm39)	splice site	probably null
Z1177:Cyp4f40	UTSW	17	32,895,423 (GRCm39)	missense	probably damaging	0.98
Z1177:Cyp4f40	UTSW	17	32,890,133 (GRCm39)	missense	probably benign	0.04

Posted On

2014-05-07