Mutagenetix > Incidental Mutation

Incidental Mutation 'R5377:Cyp4f40'

425651

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f40

Ensembl Gene

ENSMUSG00000090700

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 40

Synonyms

EG631304

MMRRC Submission

042845-MU

Accession Numbers

Essential gene?

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

Stock #

R5377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32877874-32895888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32894590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 413 (I413F)

Ref Sequence

ENSEMBL: ENSMUSP00000129536 (fasta)

Gene Model

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

AlphaFold

G3UW81

Predicted Effect

probably null
Transcript: ENSMUST00000165061
AA Change: I413F

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: I413F

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,622,212 (GRCm39)	V372F	probably benign	Het
Adcy10	G	A	1: 165,347,464 (GRCm39)	C393Y	probably damaging	Het
Adgrg7	A	C	16: 56,550,669 (GRCm39)	I681S	possibly damaging	Het
Akap8l	T	C	17: 32,540,485 (GRCm39)		probably benign	Het
Akr1a1	A	T	4: 116,497,092 (GRCm39)	V156E	probably damaging	Het
Alk	T	G	17: 72,202,734 (GRCm39)	D1167A	probably damaging	Het
Ankrd11	T	C	8: 123,620,453 (GRCm39)		probably null	Het
Aspm	T	A	1: 139,385,221 (GRCm39)	N288K	probably damaging	Het
Aspm	A	G	1: 139,398,133 (GRCm39)		probably null	Het
Asxl2	G	A	12: 3,524,618 (GRCm39)		probably null	Het
Atp6v0a1	A	G	11: 100,946,413 (GRCm39)	H802R	probably damaging	Het
B4galnt1	A	G	10: 127,007,691 (GRCm39)	T531A	possibly damaging	Het
Cecr2	A	G	6: 120,733,530 (GRCm39)	N506D	possibly damaging	Het
Crebrf	T	C	17: 26,978,839 (GRCm39)	V509A	probably damaging	Het
Defb12	C	A	8: 19,164,342 (GRCm39)		probably null	Het
Dnah2	T	C	11: 69,312,674 (GRCm39)	E4297G	probably damaging	Het
Dpysl5	A	T	5: 30,948,857 (GRCm39)	N371Y	probably damaging	Het
Eef1d	G	T	15: 75,775,038 (GRCm39)	T207N	probably benign	Het
Esrrb	C	T	12: 86,565,783 (GRCm39)	Q416*	probably null	Het
Exd2	T	C	12: 80,536,222 (GRCm39)	L284P	probably damaging	Het
Fat3	T	A	9: 16,287,739 (GRCm39)	I595F	probably benign	Het
Gm9920	A	G	15: 54,972,371 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,084 (GRCm39)	K783E	probably damaging	Het
Irs2	A	G	8: 11,055,277 (GRCm39)	S1052P	probably benign	Het
Kctd18	T	C	1: 58,002,252 (GRCm39)	I192V	probably benign	Het
Lama3	A	G	18: 12,586,803 (GRCm39)	D722G	probably damaging	Het
Lepr	T	C	4: 101,672,216 (GRCm39)	V1080A	possibly damaging	Het
Lpin1	C	T	12: 16,613,656 (GRCm39)	G504S	probably damaging	Het
Lrit2	A	C	14: 36,791,140 (GRCm39)	Q273P	possibly damaging	Het
Mlkl	T	A	8: 112,054,569 (GRCm39)	E189D	probably benign	Het
Mttp	C	T	3: 137,810,790 (GRCm39)	R608H	probably benign	Het
Nav2	T	C	7: 49,238,908 (GRCm39)	V2011A	probably benign	Het
Nos2	A	T	11: 78,848,317 (GRCm39)	I1075F	probably benign	Het
Npat	A	G	9: 53,461,336 (GRCm39)		probably null	Het
Nucks1	T	C	1: 131,846,771 (GRCm39)	F16L	probably damaging	Het
Nus1	T	C	10: 52,305,309 (GRCm39)	S150P	possibly damaging	Het
Odad1	C	T	7: 45,591,506 (GRCm39)	R257*	probably null	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or4c123	G	T	2: 89,127,506 (GRCm39)	T36K	probably damaging	Het
Or8b35	A	T	9: 37,903,908 (GRCm39)	Y40F	probably benign	Het
Pclo	A	G	5: 14,731,367 (GRCm39)	T3290A	unknown	Het
Pign	A	T	1: 105,585,537 (GRCm39)	F4Y	probably benign	Het
Rfx4	A	G	10: 84,696,406 (GRCm39)	N233D	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,652 (GRCm39)	M1325L	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf11	T	A	15: 96,315,001 (GRCm39)	H1227L	possibly damaging	Het
Sec31b	G	T	19: 44,507,076 (GRCm39)	P840T	probably damaging	Het
Slc16a9	T	A	10: 70,118,958 (GRCm39)	L426I	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc34a1	T	C	13: 23,996,575 (GRCm39)	S27P	probably damaging	Het
Tacc1	A	G	8: 25,672,299 (GRCm39)	S310P	possibly damaging	Het
Tmem245	G	A	4: 56,947,084 (GRCm39)	R110C	probably damaging	Het
Trip12	T	C	1: 84,735,152 (GRCm39)	Y953C	probably damaging	Het
Trpm7	C	A	2: 126,684,775 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,644,320 (GRCm39)	V4561I	probably benign	Het
Vmn1r192	C	T	13: 22,371,801 (GRCm39)	V140I	probably benign	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	T	C	17: 19,599,531 (GRCm39)	V405A	probably damaging	Het
Wdhd1	A	C	14: 47,509,678 (GRCm39)	V172G	probably benign	Het
Zfhx3	C	T	8: 109,677,817 (GRCm39)	R2956C	possibly damaging	Het
Zfp446	T	C	7: 12,716,178 (GRCm39)	L283P	possibly damaging	Het
Zfp82	T	C	7: 29,756,591 (GRCm39)	K164E	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
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
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'- TTACGCTGTGAGGAAAGATTAAGTG -3'
(R):5'- ATCTGATATCCTGGGGCCAC -3'

Sequencing Primer
(F):5'- CAACACAGAGGCTGGCAGC -3'
(R):5'- GGAGACCAAGAACGCAGACAC -3'

Posted On

2016-08-04