Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0180 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

32659410-32676687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32659667 bp

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]

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: 21,652,639	N24Y	probably damaging	Het
2810408A11Rik	A	T	11: 69,898,876	M311K	probably benign	Het
Ackr2	T	C	9: 121,908,916	I119T	probably benign	Het
Adamtsl3	A	G	7: 82,575,990	M336V	probably benign	Het
Adhfe1	T	A	1: 9,563,857	F374I	probably benign	Het
Apob	C	T	12: 8,008,285	Q2256*	probably null	Het
Arg1	T	C	10: 24,916,830	I169V	probably benign	Het
Atxn1	A	G	13: 45,557,548	V636A	probably damaging	Het
B3gnt5	T	A	16: 19,769,100	I23K	possibly damaging	Het
Casc1	A	G	6: 145,183,218		probably benign	Het
Catsperg1	A	T	7: 29,190,431		probably null	Het
Celf3	T	A	3: 94,485,340	F115L	probably damaging	Het
Cep192	T	A	18: 67,835,488	H984Q	probably damaging	Het
Col18a1	A	G	10: 77,096,517	V493A	probably benign	Het
Col5a2	C	T	1: 45,411,460	G376S	probably damaging	Het
Colec12	A	G	18: 9,848,890	H356R	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cracr2a	T	C	6: 127,604,074		probably null	Het
Ctsr	T	C	13: 61,162,745	H62R	probably damaging	Het
Dnah9	T	G	11: 66,147,290	H140P	probably damaging	Het
Dnm1	T	G	2: 32,327,993	I464L	probably damaging	Het
Dnmt1	G	A	9: 20,908,620	T1409I	probably damaging	Het
Dock1	G	A	7: 135,098,837	D1109N	probably damaging	Het
Efhc1	A	G	1: 20,967,489	M297V	probably benign	Het
Emcn	A	T	3: 137,418,994		probably null	Het
Ephb1	A	T	9: 101,927,504	M905K	probably damaging	Het
Fbxw10	A	G	11: 62,853,096	Y276C	probably benign	Het
Fermt3	C	A	19: 7,002,343	S474I	possibly damaging	Het
Frg1	T	A	8: 41,399,068		probably null	Het
Gbf1	T	C	19: 46,285,722	S1732P	probably benign	Het
Gbp8	A	C	5: 105,031,276	L119R	probably damaging	Het
Gldc	C	T	19: 30,100,817	A927T	possibly damaging	Het
Gm8836	T	A	6: 70,260,405		probably benign	Het
Grhl3	C	T	4: 135,554,530	V344I	probably benign	Het
Hhipl1	T	A	12: 108,328,070	L745H	probably damaging	Het
Ido1	T	C	8: 24,593,140	I90V	possibly damaging	Het
Itpr2	T	A	6: 146,501,909		probably benign	Het
Kif1b	T	G	4: 149,213,659	S1029R	probably damaging	Het
Kmt2a	G	A	9: 44,826,851		probably benign	Het
Limk1	T	C	5: 134,669,261	N215D	probably damaging	Het
Lims2	A	G	18: 31,956,315	K144E	probably benign	Het
Mfsd6l	A	T	11: 68,556,545	Q74L	possibly damaging	Het
Mroh1	T	A	15: 76,428,250	S546T	probably damaging	Het
Ncbp3	T	A	11: 73,064,978		probably null	Het
Nlrx1	G	A	9: 44,255,459	H776Y	possibly damaging	Het
Nptxr	T	C	15: 79,794,403	M228V	probably benign	Het
Nsf	T	A	11: 103,930,780	L13F	probably damaging	Het
Nyap1	T	C	5: 137,738,021	E68G	probably damaging	Het
Olfr550	A	G	7: 102,579,032	Y179C	probably damaging	Het
Olfr9	A	T	10: 128,990,834	R307S	possibly damaging	Het
Pcdhb9	A	G	18: 37,402,254	N434D	probably damaging	Het
Pgm5	T	C	19: 24,815,763	D313G	probably damaging	Het
Pkdcc	G	A	17: 83,221,870		probably null	Het
Pkp1	T	C	1: 135,886,800	K261R	probably benign	Het
Pnpla6	A	G	8: 3,524,250		probably null	Het
Polr3b	A	G	10: 84,622,515	T17A	probably benign	Het
Ppt2	A	T	17: 34,626,503	M98K	probably damaging	Het
Rasal3	T	C	17: 32,399,405	D142G	probably benign	Het
Rbm17	G	A	2: 11,587,779	S295L	probably benign	Het
Rhbdf1	A	T	11: 32,210,042	V153D	possibly damaging	Het
Slc6a3	C	T	13: 73,562,336	T355M	probably damaging	Het
Snrnp35	A	T	5: 124,490,820		probably benign	Het
Sorcs2	A	T	5: 36,153,845	I37N	probably damaging	Het
Tecta	G	T	9: 42,366,813	P1133Q	probably benign	Het
Tmem145	A	G	7: 25,314,699	I413V	probably benign	Het
Trappc11	G	T	8: 47,527,974	T144K	possibly damaging	Het
Triml2	A	T	8: 43,190,309	I223L	probably benign	Het
Ube2g2	T	A	10: 77,630,739	N19K	possibly damaging	Het
Ubqln3	A	G	7: 104,141,840	Y348H	probably damaging	Het
Wfs1	A	G	5: 36,967,028	F840L	probably damaging	Het
Zc3h11a	T	C	1: 133,621,611	I771V	probably benign	Het
Zdhhc23	G	A	16: 43,973,703	P203S	probably benign	Het
Zfp106	T	G	2: 120,533,875	T684P	probably damaging	Het
Zfp217	A	T	2: 170,120,137	L90Q	probably damaging	Het

Other mutations in Cyp4f40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Cyp4f40	APN	17	32667974	missense	probably benign	0.00
IGL01563:Cyp4f40	APN	17	32673956	missense	probably damaging	0.99
IGL01801:Cyp4f40	APN	17	32676305	missense	probably damaging	1.00
IGL01960:Cyp4f40	APN	17	32659561	missense	probably benign	0.25
IGL02387:Cyp4f40	APN	17	32668010	missense	probably damaging	1.00
IGL02631:Cyp4f40	APN	17	32675635	splice site	probably benign
IGL02967:Cyp4f40	APN	17	32674248	missense	probably damaging	1.00
R0030:Cyp4f40	UTSW	17	32675973	missense	probably damaging	1.00
R0103:Cyp4f40	UTSW	17	32676308	missense	probably damaging	1.00
R0103:Cyp4f40	UTSW	17	32676309	nonsense	probably null
R1413:Cyp4f40	UTSW	17	32673939	missense	probably benign	0.35
R2882:Cyp4f40	UTSW	17	32668073	missense	probably benign	0.05
R3903:Cyp4f40	UTSW	17	32659624	missense	possibly damaging	0.51
R4378:Cyp4f40	UTSW	17	32668029	missense	probably null	0.44
R4465:Cyp4f40	UTSW	17	32671212	missense	probably benign	0.00
R4808:Cyp4f40	UTSW	17	32674275	missense	probably benign	0.23
R5377:Cyp4f40	UTSW	17	32675616	missense	probably null	0.61
R5395:Cyp4f40	UTSW	17	32669853	missense	probably benign	0.01
R5523:Cyp4f40	UTSW	17	32669822	missense	probably damaging	0.98
R5889:Cyp4f40	UTSW	17	32675757	missense	probably benign	0.15
R6624:Cyp4f40	UTSW	17	32671180	missense	possibly damaging	0.82
R6692:Cyp4f40	UTSW	17	32675742	missense	possibly damaging	0.48
R6859:Cyp4f40	UTSW	17	32675949	missense	probably benign	0.19
R7792:Cyp4f40	UTSW	17	32671169	missense	probably damaging	1.00
R8324:Cyp4f40	UTSW	17	32659528	missense	probably benign	0.35
R8755:Cyp4f40	UTSW	17	32667983	nonsense	probably null
Z1088:Cyp4f40	UTSW	17	32674002	splice site	probably null
Z1177:Cyp4f40	UTSW	17	32671159	missense	probably benign	0.04
Z1177:Cyp4f40	UTSW	17	32676449	missense	probably damaging	0.98

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