Mutagenetix > Incidental Mutation

Incidental Mutation 'R0180:Cyp4f40'

23867

Institutional Source

Beutler Lab

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: 0.060) question?

Stock #

R0180 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

32877874-32895888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32878641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 61 (W61L)

Ref Sequence

ENSEMBL: ENSMUSP00000129536 (fasta)

Gene Model

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

AlphaFold

G3UW81

Predicted Effect

probably benign
Transcript: ENSMUST00000165061
AA Change: W61L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: W61L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	52	515	2.2e-130	PFAM

Meta Mutation Damage Score

0.1345

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 89.5%

Validation Efficiency

77% (53/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,630,003 (GRCm39)	N24Y	probably damaging	Het
2810408A11Rik	A	T	11: 69,789,702 (GRCm39)	M311K	probably benign	Het
Ackr2	T	C	9: 121,737,982 (GRCm39)	I119T	probably benign	Het
Adamtsl3	A	G	7: 82,225,198 (GRCm39)	M336V	probably benign	Het
Adhfe1	T	A	1: 9,634,082 (GRCm39)	F374I	probably benign	Het
Apob	C	T	12: 8,058,285 (GRCm39)	Q2256*	probably null	Het
Arg1	T	C	10: 24,792,728 (GRCm39)	I169V	probably benign	Het
Atxn1	A	G	13: 45,711,024 (GRCm39)	V636A	probably damaging	Het
B3gnt5	T	A	16: 19,587,850 (GRCm39)	I23K	possibly damaging	Het
Catsperg1	A	T	7: 28,889,856 (GRCm39)		probably null	Het
Celf3	T	A	3: 94,392,647 (GRCm39)	F115L	probably damaging	Het
Cep192	T	A	18: 67,968,559 (GRCm39)	H984Q	probably damaging	Het
Col18a1	A	G	10: 76,932,351 (GRCm39)	V493A	probably benign	Het
Col5a2	C	T	1: 45,450,620 (GRCm39)	G376S	probably damaging	Het
Colec12	A	G	18: 9,848,890 (GRCm39)	H356R	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cracr2a	T	C	6: 127,581,037 (GRCm39)		probably null	Het
Ctsr	T	C	13: 61,310,559 (GRCm39)	H62R	probably damaging	Het
Dnah9	T	G	11: 66,038,116 (GRCm39)	H140P	probably damaging	Het
Dnai7	A	G	6: 145,128,944 (GRCm39)		probably benign	Het
Dnm1	T	G	2: 32,218,005 (GRCm39)	I464L	probably damaging	Het
Dnmt1	G	A	9: 20,819,916 (GRCm39)	T1409I	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
Efhc1	A	G	1: 21,037,713 (GRCm39)	M297V	probably benign	Het
Emcn	A	T	3: 137,124,755 (GRCm39)		probably null	Het
Ephb1	A	T	9: 101,804,703 (GRCm39)	M905K	probably damaging	Het
Fbxw10	A	G	11: 62,743,922 (GRCm39)	Y276C	probably benign	Het
Fermt3	C	A	19: 6,979,711 (GRCm39)	S474I	possibly damaging	Het
Frg1	T	A	8: 41,852,105 (GRCm39)		probably null	Het
Gbf1	T	C	19: 46,274,161 (GRCm39)	S1732P	probably benign	Het
Gbp8	A	C	5: 105,179,142 (GRCm39)	L119R	probably damaging	Het
Gldc	C	T	19: 30,078,217 (GRCm39)	A927T	possibly damaging	Het
Gm8836	T	A	6: 70,237,389 (GRCm39)		probably benign	Het
Grhl3	C	T	4: 135,281,841 (GRCm39)	V344I	probably benign	Het
Hhipl1	T	A	12: 108,294,329 (GRCm39)	L745H	probably damaging	Het
Ido1	T	C	8: 25,083,156 (GRCm39)	I90V	possibly damaging	Het
Itpr2	T	A	6: 146,403,407 (GRCm39)		probably benign	Het
Kif1b	T	G	4: 149,298,116 (GRCm39)	S1029R	probably damaging	Het
Kmt2a	G	A	9: 44,738,148 (GRCm39)		probably benign	Het
Limk1	T	C	5: 134,698,115 (GRCm39)	N215D	probably damaging	Het
Lims2	A	G	18: 32,089,368 (GRCm39)	K144E	probably benign	Het
Mfsd6l	A	T	11: 68,447,371 (GRCm39)	Q74L	possibly damaging	Het
Mroh1	T	A	15: 76,312,450 (GRCm39)	S546T	probably damaging	Het
Ncbp3	T	A	11: 72,955,804 (GRCm39)		probably null	Het
Nlrx1	G	A	9: 44,166,756 (GRCm39)	H776Y	possibly damaging	Het
Nptxr	T	C	15: 79,678,604 (GRCm39)	M228V	probably benign	Het
Nsf	T	A	11: 103,821,606 (GRCm39)	L13F	probably damaging	Het
Nyap1	T	C	5: 137,736,283 (GRCm39)	E68G	probably damaging	Het
Or10p22	A	T	10: 128,826,703 (GRCm39)	R307S	possibly damaging	Het
Or51r1	A	G	7: 102,228,239 (GRCm39)	Y179C	probably damaging	Het
Pcdhb9	A	G	18: 37,535,307 (GRCm39)	N434D	probably damaging	Het
Pgm5	T	C	19: 24,793,127 (GRCm39)	D313G	probably damaging	Het
Pkdcc	G	A	17: 83,529,299 (GRCm39)		probably null	Het
Pkp1	T	C	1: 135,814,538 (GRCm39)	K261R	probably benign	Het
Pnpla6	A	G	8: 3,574,250 (GRCm39)		probably null	Het
Polr3b	A	G	10: 84,458,379 (GRCm39)	T17A	probably benign	Het
Ppt2	A	T	17: 34,845,477 (GRCm39)	M98K	probably damaging	Het
Rasal3	T	C	17: 32,618,379 (GRCm39)	D142G	probably benign	Het
Rbm17	G	A	2: 11,592,590 (GRCm39)	S295L	probably benign	Het
Rhbdf1	A	T	11: 32,160,042 (GRCm39)	V153D	possibly damaging	Het
Slc6a3	C	T	13: 73,710,455 (GRCm39)	T355M	probably damaging	Het
Snrnp35	A	T	5: 124,628,883 (GRCm39)		probably benign	Het
Sorcs2	A	T	5: 36,311,189 (GRCm39)	I37N	probably damaging	Het
Tecta	G	T	9: 42,278,109 (GRCm39)	P1133Q	probably benign	Het
Tmem145	A	G	7: 25,014,124 (GRCm39)	I413V	probably benign	Het
Trappc11	G	T	8: 47,981,009 (GRCm39)	T144K	possibly damaging	Het
Triml2	A	T	8: 43,643,346 (GRCm39)	I223L	probably benign	Het
Ube2g2	T	A	10: 77,466,573 (GRCm39)	N19K	possibly damaging	Het
Ubqln3	A	G	7: 103,791,047 (GRCm39)	Y348H	probably damaging	Het
Wfs1	A	G	5: 37,124,372 (GRCm39)	F840L	probably damaging	Het
Zc3h11a	T	C	1: 133,549,349 (GRCm39)	I771V	probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp106	T	G	2: 120,364,356 (GRCm39)	T684P	probably damaging	Het
Zfp217	A	T	2: 169,962,057 (GRCm39)	L90Q	probably damaging	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
IGL01960:Cyp4f40	APN	17	32,878,535 (GRCm39)	missense	probably benign	0.25
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGATTTGACATCGGGGTCCATAG -3'
(R):5'- CCCTTCAGTGTGTACCAGAAACAGC -3'

Sequencing Primer
(F):5'- CTCATAGGATGCGATATCTGGAC -3'
(R):5'- ATATCCATGAGGATCTCTGCAC -3'

Posted On

2013-04-16