Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25998722-26015650 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 25999571 bp (GRCm38)

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: 40,992,946	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,785,481		probably benign	Het
Abca13	T	A	11: 9,483,924		probably benign	Het
Abca9	T	C	11: 110,160,516	D118G	probably benign	Het
AC239677.1	T	A	5: 25,951,625	I119F	possibly damaging	Het
Adamts16	A	G	13: 70,836,134	F137L	probably benign	Het
Adamts3	T	C	5: 89,861,349	I152V	probably benign	Het
Adcy4	T	A	14: 55,778,308	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,875,829	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,784,953		probably benign	Het
Bhlhe22	C	G	3: 18,055,782	S332C	probably damaging	Het
Card19	T	A	13: 49,205,284	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,656,594	L11P	probably damaging	Het
Ccdc129	A	G	6: 55,975,664	H864R	probably damaging	Het
Cdadc1	A	G	14: 59,575,858	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,408,362	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,756,645	K723E	possibly damaging	Het
Cep70	A	G	9: 99,263,720	I147V	probably benign	Het
Cfap58	A	T	19: 47,962,430	H410L	probably damaging	Het
Chat	T	C	14: 32,420,778	K418R	probably damaging	Het
Cic	T	G	7: 25,271,607	D254E	probably damaging	Het
Ckap4	T	C	10: 84,527,567	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,921,819	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,392,188	N418D	probably damaging	Het
Daam1	A	T	12: 71,944,142	I177L	unknown	Het
Dnah1	T	C	14: 31,268,781		probably benign	Het
Ercc5	A	G	1: 44,180,624	T1019A	probably damaging	Het
F13b	T	A	1: 139,507,636	V173E	probably damaging	Het
Fam126a	A	G	5: 23,985,732		probably benign	Het
Fam135b	A	G	15: 71,621,996		probably benign	Het
Fam20a	A	C	11: 109,677,317	F316V	probably damaging	Het
Flrt2	T	C	12: 95,779,338	V150A	probably damaging	Het
Ghsr	A	G	3: 27,371,876	D27G	probably benign	Het
Glis3	G	T	19: 28,262,518		probably benign	Het
Gm5155	T	G	7: 17,915,591		noncoding transcript	Het
Gtpbp1	A	G	15: 79,707,885	N96D	probably damaging	Het
H1fnt	A	T	15: 98,256,573	W232R	unknown	Het
Ibtk	A	T	9: 85,724,145	I443N	probably damaging	Het
Ifi207	T	C	1: 173,724,947	H968R	probably damaging	Het
Ifit2	A	G	19: 34,573,186	D42G	probably null	Het
Il17rc	A	T	6: 113,478,989	D265V	probably damaging	Het
Ints10	G	A	8: 68,807,644		probably benign	Het
Itfg2	T	C	6: 128,424,728	D29G	probably damaging	Het
Kcng3	A	T	17: 83,631,063	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,442,265	F295L	probably benign	Het
Mrps28	T	A	3: 8,900,124	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,522,758	K37M	possibly damaging	Het
Mug1	C	T	6: 121,882,629	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204		probably benign	Het
Mybl2	T	C	2: 163,072,708	S249P	probably benign	Het
Naip6	A	G	13: 100,300,240	Y592H	possibly damaging	Het
Nrp1	A	G	8: 128,502,798	N919S	probably benign	Het
Nudt9	C	T	5: 104,065,038	Q326*	probably null	Het
Olfr1136	A	T	2: 87,693,376	C169S	probably damaging	Het
Olfr813	A	G	10: 129,857,231	T238A	probably damaging	Het
Olfr827	T	A	10: 130,210,723	I136F	probably benign	Het
Olfr829	T	A	9: 18,857,111	M162K	probably benign	Het
Pcsk4	T	C	10: 80,325,981	E142G	probably damaging	Het
Pde3a	C	A	6: 141,459,834	P471T	probably benign	Het
Pign	A	T	1: 105,585,002	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,582,449	M420K	probably damaging	Het
Prr14	T	A	7: 127,473,988		probably null	Het
Rchy1	T	A	5: 91,957,882	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,681,560		probably benign	Het
Sec23ip	T	G	7: 128,766,138	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,746,614	S47P	probably damaging	Het
Stil	G	A	4: 115,023,964	M568I	probably benign	Het
Syt3	T	A	7: 44,396,010	V558E	probably damaging	Het
Sytl3	A	G	17: 6,706,031		probably benign	Het
Szt2	A	G	4: 118,373,967	V2533A	unknown	Het
Tenm4	A	G	7: 96,704,153	Y384C	probably damaging	Het
Tfam	T	C	10: 71,235,550	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,664,304	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,573,705	Y15*	probably null	Het
Uhrf1	C	T	17: 56,318,035	A526V	probably damaging	Het
Vmn2r67	T	C	7: 85,155,838	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,597,398	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 85,310,352		noncoding transcript	Het
Wdr17	A	T	8: 54,670,328	I479K	probably damaging	Het
Wt1	T	C	2: 105,166,831	V371A	probably damaging	Het
Zfp536	G	T	7: 37,479,310	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,076,479	V560A	probably benign	Het

Other mutations in Fnta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fnta	APN	8	26007201	nonsense	probably null
IGL01508:Fnta	APN	8	26007266	missense	probably damaging	1.00
BB004:Fnta	UTSW	8	26004426	nonsense	probably null
BB014:Fnta	UTSW	8	26004426	nonsense	probably null
R0455:Fnta	UTSW	8	26001028	missense	probably benign	0.00
R1462:Fnta	UTSW	8	25999571	splice site	probably null
R1772:Fnta	UTSW	8	26000966	splice site	probably benign
R2095:Fnta	UTSW	8	25999879	nonsense	probably null
R2174:Fnta	UTSW	8	26013470	missense	possibly damaging	0.95
R5193:Fnta	UTSW	8	26011218	splice site	probably null
R5212:Fnta	UTSW	8	26009707	missense	probably benign	0.07
R5557:Fnta	UTSW	8	25999536	missense	probably damaging	1.00
R5756:Fnta	UTSW	8	26009707	missense	possibly damaging	0.94
R6467:Fnta	UTSW	8	26007313	nonsense	probably null
R7127:Fnta	UTSW	8	26007203	missense	probably damaging	1.00
R7571:Fnta	UTSW	8	26015465	missense	probably benign	0.02
R7644:Fnta	UTSW	8	26013488	missense	probably damaging	0.97
R7927:Fnta	UTSW	8	26004426	nonsense	probably null
R8012:Fnta	UTSW	8	25999507	missense	probably benign	0.00
R8441:Fnta	UTSW	8	26011181	nonsense	probably null
R8957:Fnta	UTSW	8	25999513	missense	probably benign	0.00
R9352:Fnta	UTSW	8	26011091	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