Mutagenetix > Incidental Mutation

Incidental Mutation 'R1413:Cyp4f40'

159723

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f40

Ensembl Gene

ENSMUSG00000090700

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 40

Synonyms

EG631304

MMRRC Submission

039469-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32877874-32895888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32892913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 309 (D309E)

Ref Sequence

ENSEMBL: ENSMUSP00000129536 (fasta)

Gene Model

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

AlphaFold

G3UW81

Predicted Effect

probably benign
Transcript: ENSMUST00000165061
AA Change: D309E

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: D309E

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,573,245 (GRCm39)	N1051D	possibly damaging	Het
Abcc9	A	G	6: 142,536,222 (GRCm39)	V1504A	probably damaging	Het
Actr6	A	T	10: 89,564,019 (GRCm39)	Y84*	probably null	Het
Adgrl3	T	C	5: 81,841,366 (GRCm39)	Y816H	probably damaging	Het
Ahcyl2	T	C	6: 29,768,586 (GRCm39)		probably benign	Het
Amd1	A	T	10: 40,166,404 (GRCm39)	C157*	probably null	Het
Ank1	G	A	8: 23,609,393 (GRCm39)	E1362K	probably damaging	Het
Atp10b	A	G	11: 43,121,391 (GRCm39)	Q1018R	probably benign	Het
Atp1a2	G	A	1: 172,106,911 (GRCm39)	T803I	probably damaging	Het
Atr	T	G	9: 95,814,495 (GRCm39)	L2064R	probably damaging	Het
Bmp3	T	A	5: 99,020,264 (GRCm39)	L229Q	probably damaging	Het
Ccl25	A	G	8: 4,403,892 (GRCm39)	*54W	probably null	Het
Cdc45	A	T	16: 18,627,491 (GRCm39)	N111K	possibly damaging	Het
Cfap61	T	A	2: 145,805,363 (GRCm39)	S154T	probably benign	Het
Cyp2c37	T	A	19: 39,982,542 (GRCm39)	S127T	probably benign	Het
D6Ertd527e	A	G	6: 87,088,335 (GRCm39)	D166G	unknown	Het
Dmbt1	T	A	7: 130,651,944 (GRCm39)	D395E	probably damaging	Het
Dnah5	A	G	15: 28,370,555 (GRCm39)	S2832G	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Fah	T	C	7: 84,242,420 (GRCm39)	D296G	probably damaging	Het
Fam83g	A	G	11: 61,593,504 (GRCm39)	N346S	probably damaging	Het
Fgl1	T	A	8: 41,644,638 (GRCm39)	T289S	possibly damaging	Het
Fmo1	A	C	1: 162,661,431 (GRCm39)	L284R	probably damaging	Het
Frem3	T	A	8: 81,395,430 (GRCm39)	M1819K	probably benign	Het
Fsip2	T	A	2: 82,818,762 (GRCm39)	L4832M	possibly damaging	Het
Fut1	T	C	7: 45,268,852 (GRCm39)	W269R	probably damaging	Het
Ggnbp2	A	G	11: 84,723,955 (GRCm39)	Y638H	probably damaging	Het
Gp2	T	A	7: 119,050,853 (GRCm39)	I293F	probably benign	Het
Gpi1	T	C	7: 33,929,580 (GRCm39)	N20S	probably benign	Het
Gxylt1	C	T	15: 93,152,273 (GRCm39)	R222H	probably damaging	Het
Hemgn	T	C	4: 46,396,091 (GRCm39)	K382E	possibly damaging	Het
Hook3	T	A	8: 26,528,134 (GRCm39)	E585D	probably damaging	Het
Irf6	G	A	1: 192,851,613 (GRCm39)	M401I	probably benign	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Lactb	T	A	9: 66,878,201 (GRCm39)	R209S	probably damaging	Het
Lonp2	A	G	8: 87,368,212 (GRCm39)	D342G	probably damaging	Het
Mmachc	T	C	4: 116,563,194 (GRCm39)	S54G	probably damaging	Het
Mpp7	C	A	18: 7,350,977 (GRCm39)	W573C	probably damaging	Het
Or13e8	T	A	4: 43,697,011 (GRCm39)	H54L	possibly damaging	Het
Or5w1b	T	A	2: 87,476,182 (GRCm39)	Y95F	probably benign	Het
Or6b2b	A	T	1: 92,418,610 (GRCm39)	I289N	probably damaging	Het
Pappa2	A	T	1: 158,764,124 (GRCm39)	D462E	probably benign	Het
Pcdh12	A	T	18: 38,416,496 (GRCm39)	F210I	probably damaging	Het
Ppp1r12c	A	G	7: 4,487,443 (GRCm39)		probably null	Het
Prkce	T	A	17: 86,803,446 (GRCm39)	D448E	possibly damaging	Het
Ptprb	C	A	10: 116,175,584 (GRCm39)	T1193K	probably damaging	Het
Qrfpr	T	A	3: 36,236,809 (GRCm39)	E197D	possibly damaging	Het
Rusc2	T	A	4: 43,416,568 (GRCm39)	C625S	probably benign	Het
Shcbp1	T	G	8: 4,791,968 (GRCm39)		probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,196,143 (GRCm39)	C449*	probably null	Het
Stpg3	T	C	2: 25,103,862 (GRCm39)	D158G	probably damaging	Het
Sycp2	T	C	2: 177,989,590 (GRCm39)	Y1423C	probably benign	Het
Tiprl	C	T	1: 165,043,359 (GRCm39)	E256K	possibly damaging	Het
Tmem132c	T	A	5: 127,640,631 (GRCm39)	V934D	probably damaging	Het
Topors	A	G	4: 40,261,982 (GRCm39)	V434A	probably benign	Het
Usp11	A	G	X: 20,584,946 (GRCm39)	Y731C	probably damaging	Het
Vmn2r58	T	A	7: 41,513,387 (GRCm39)	I419L	probably benign	Het
Wfs1	C	A	5: 37,139,422 (GRCm39)	R72L	possibly damaging	Het
Zan	T	C	5: 137,426,201 (GRCm39)	D2525G	unknown	Het
Zfp280c	A	G	X: 47,652,715 (GRCm39)	V285A	probably benign	Het
Zfp511	T	A	7: 139,617,528 (GRCm39)	F177I	probably damaging	Het
Zfp964	A	G	8: 70,115,720 (GRCm39)	M107V	unknown	Het
Zmynd11	A	G	13: 9,760,256 (GRCm39)	Y122H	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
R0180:Cyp4f40	UTSW	17	32,878,641 (GRCm39)	missense	probably benign	0.00
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'- AAGCCAAGAAAATGCCTGTGTGTTG -3'
(R):5'- TGATGAAGCAGATGCCTCACCCAC -3'

Sequencing Primer
(F):5'- AAAATGCCTGTGTGTTGGTGAC -3'
(R):5'- GACAGTCTACCATGACTTAGGCTC -3'

Posted On

2014-03-14