Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Fnta'

186319

Institutional Source

Beutler Lab

Gene Symbol

Fnta

Ensembl Gene

ENSMUSG00000015994

Gene Name

farnesyltransferase, CAAX box, alpha

Synonyms

FTA

MMRRC Submission

039516-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26488716-26505638 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 26489599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000016138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016138] [ENSMUST00000016138]

AlphaFold

Q61239

PDB Structure

Crystal structure of FTase(ALPHA-subunit; BETA-subunit DELTA C10) in complex with BMS3 and lipid substrate FPP [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000016138

SMART Domains

Protein: ENSMUSP00000016138
Gene: ENSMUSG00000015994

Domain	Start	End	E-Value	Type
low complexity region	11	48	N/A	INTRINSIC
Pfam:PPTA	116	143	4.6e-11	PFAM
Pfam:PPTA	151	178	9.2e-14	PFAM
Pfam:PPTA	185	212	3.9e-15	PFAM
Pfam:PPTA	219	246	8.1e-11	PFAM
Pfam:PPTA	259	285	4.7e-9	PFAM
low complexity region	293	304	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000016138

SMART Domains

Protein: ENSMUSP00000016138
Gene: ENSMUSG00000015994

Domain	Start	End	E-Value	Type
low complexity region	11	48	N/A	INTRINSIC
Pfam:PPTA	116	143	4.6e-11	PFAM
Pfam:PPTA	151	178	9.2e-14	PFAM
Pfam:PPTA	185	212	3.9e-15	PFAM
Pfam:PPTA	219	246	8.1e-11	PFAM
Pfam:PPTA	259	285	4.7e-9	PFAM
low complexity region	293	304	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211718

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,762,845 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,433,924 (GRCm39)		probably benign	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,642,150 (GRCm39)		probably benign	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Ceacam23	T	G	7: 17,649,516 (GRCm39)		noncoding transcript	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,763,739 (GRCm39)	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Dnah1	T	C	14: 30,990,738 (GRCm39)		probably benign	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Fam135b	A	G	15: 71,493,845 (GRCm39)		probably benign	Het
Fam20a	A	C	11: 109,568,143 (GRCm39)	F316V	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Glis3	G	T	19: 28,239,918 (GRCm39)		probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Hycc1	A	G	5: 24,190,730 (GRCm39)		probably benign	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Il17rc	A	T	6: 113,455,950 (GRCm39)	D265V	probably damaging	Het
Ints10	G	A	8: 69,260,296 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Kcng3	A	T	17: 83,938,492 (GRCm39)	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,499,693 (GRCm39)	K37M	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204 (GRCm39)		probably benign	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or5w13	A	T	2: 87,523,720 (GRCm39)	C169S	probably damaging	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Rchy1	T	A	5: 92,105,741 (GRCm39)	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,509,125 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Sytl3	A	G	17: 6,973,430 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 84,959,560 (GRCm39)		noncoding transcript	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,803,108 (GRCm39)	V560A	probably benign	Het

Other mutations in Fnta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fnta	APN	8	26,497,229 (GRCm39)	nonsense	probably null
IGL01508:Fnta	APN	8	26,497,294 (GRCm39)	missense	probably damaging	1.00
BB004:Fnta	UTSW	8	26,494,454 (GRCm39)	nonsense	probably null
BB014:Fnta	UTSW	8	26,494,454 (GRCm39)	nonsense	probably null
R0455:Fnta	UTSW	8	26,491,056 (GRCm39)	missense	probably benign	0.00
R1462:Fnta	UTSW	8	26,489,599 (GRCm39)	splice site	probably null
R1772:Fnta	UTSW	8	26,490,994 (GRCm39)	splice site	probably benign
R2095:Fnta	UTSW	8	26,489,907 (GRCm39)	nonsense	probably null
R2174:Fnta	UTSW	8	26,503,498 (GRCm39)	missense	possibly damaging	0.95
R5193:Fnta	UTSW	8	26,501,246 (GRCm39)	splice site	probably null
R5212:Fnta	UTSW	8	26,499,735 (GRCm39)	missense	probably benign	0.07
R5557:Fnta	UTSW	8	26,489,564 (GRCm39)	missense	probably damaging	1.00
R5756:Fnta	UTSW	8	26,499,735 (GRCm39)	missense	possibly damaging	0.94
R6467:Fnta	UTSW	8	26,497,341 (GRCm39)	nonsense	probably null
R7127:Fnta	UTSW	8	26,497,231 (GRCm39)	missense	probably damaging	1.00
R7571:Fnta	UTSW	8	26,505,493 (GRCm39)	missense	probably benign	0.02
R7644:Fnta	UTSW	8	26,503,516 (GRCm39)	missense	probably damaging	0.97
R7927:Fnta	UTSW	8	26,494,454 (GRCm39)	nonsense	probably null
R8012:Fnta	UTSW	8	26,489,535 (GRCm39)	missense	probably benign	0.00
R8441:Fnta	UTSW	8	26,501,209 (GRCm39)	nonsense	probably null
R8957:Fnta	UTSW	8	26,489,541 (GRCm39)	missense	probably benign	0.00
R9352:Fnta	UTSW	8	26,501,119 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGACCGCTCTAACCACTCTACG -3'
(R):5'- AAGCACTAGAGGTGAGTTCCTCTCC -3'

Sequencing Primer
(F):5'- TCTACGCTCCTGCATAAGAGG -3'
(R):5'- GGTGAGTTCCTCTCCTTGTCTC -3'

Posted On

2014-05-09