Mutagenetix > Incidental Mutation

Incidental Mutation 'R7127:Fnta'

552397

Institutional Source

Beutler Lab

Gene Symbol

Fnta

Ensembl Gene

ENSMUSG00000015994

Gene Name

farnesyltransferase, CAAX box, alpha

Synonyms

FTA

MMRRC Submission

045246-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26488716-26505638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26497231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 206 (R206L)

Ref Sequence

ENSEMBL: ENSMUSP00000016138 (fasta)

Gene Model

predicted gene model for transcript(s): [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 damaging
Transcript: ENSMUST00000016138
AA Change: R206L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016138
Gene: ENSMUSG00000015994
AA Change: R206L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,931,825 (GRCm39)	T26I	probably benign	Het
Adam5	A	T	8: 25,300,797 (GRCm39)	I244N	probably damaging	Het
Adam7	A	G	14: 68,752,218 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,268,033 (GRCm39)	N204K	probably benign	Het
Arl13b	C	T	16: 62,622,102 (GRCm39)	G397D	probably damaging	Het
AU041133	T	C	10: 81,986,700 (GRCm39)	F118L	probably benign	Het
Brinp1	C	T	4: 68,711,260 (GRCm39)	R316H	probably benign	Het
Cabcoco1	C	T	10: 68,272,160 (GRCm39)	V268I	probably benign	Het
Car15	T	C	16: 17,656,060 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,576,421 (GRCm39)	D89E	possibly damaging	Het
Cckar	T	A	5: 53,863,817 (GRCm39)	Y48F	probably damaging	Het
Cdyl	T	A	13: 36,040,651 (GRCm39)	S282T	probably benign	Het
Clca3a1	T	C	3: 144,711,806 (GRCm39)	T730A	probably damaging	Het
Cracr2b	T	C	7: 141,045,695 (GRCm39)	S318P	possibly damaging	Het
Depdc1b	T	C	13: 108,460,462 (GRCm39)	F24S	probably damaging	Het
Duox2	C	T	2: 122,122,430 (GRCm39)	G565D	probably benign	Het
Ehbp1	A	T	11: 22,003,529 (GRCm39)	Y1073*	probably null	Het
Epg5	A	T	18: 78,072,140 (GRCm39)	N2384I	probably damaging	Het
Fam171b	A	G	2: 83,710,110 (GRCm39)	D594G	probably benign	Het
Flad1	A	G	3: 89,310,725 (GRCm39)	Y441H	probably damaging	Het
Fn1	T	C	1: 71,636,703 (GRCm39)	T2150A	probably benign	Het
Gadd45b	A	T	10: 80,766,999 (GRCm39)	M95L	probably benign	Het
Gbp8	A	T	5: 105,165,578 (GRCm39)	H358Q	probably benign	Het
Glipr1l3	C	A	10: 111,983,995 (GRCm39)	G157V	probably damaging	Het
Hoxc13	T	C	15: 102,829,903 (GRCm39)	I94T	possibly damaging	Het
Hunk	A	G	16: 90,272,779 (GRCm39)	D361G	probably damaging	Het
Igkv3-4	T	A	6: 70,649,155 (GRCm39)	Y51*	probably null	Het
Kif26a	C	T	12: 112,144,579 (GRCm39)	P1611L	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lrrc8d	T	C	5: 105,960,829 (GRCm39)	V413A	probably damaging	Het
Med6	C	T	12: 81,635,774 (GRCm39)	R86Q	probably damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Or6c66b	T	A	10: 129,376,936 (GRCm39)	C177S	probably damaging	Het
Plk3	A	T	4: 116,987,767 (GRCm39)	V429E	probably benign	Het
Plrg1	C	T	3: 82,967,222 (GRCm39)	P131L	probably damaging	Het
Plscr4	C	T	9: 92,372,831 (GRCm39)	R318*	probably null	Het
Rab34	A	T	11: 78,082,056 (GRCm39)	K152*	probably null	Het
Rasef	A	T	4: 73,662,369 (GRCm39)	S194T	probably damaging	Het
Rcc1	A	G	4: 132,062,107 (GRCm39)	S269P	probably damaging	Het
Resf1	T	C	6: 149,229,443 (GRCm39)	F830L	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,670,599 (GRCm39)	V3466M	probably damaging	Het
Scin	A	G	12: 40,155,071 (GRCm39)	I174T	possibly damaging	Het
Serpinb8	A	G	1: 107,525,200 (GRCm39)	M1V	probably null	Het
Smok3c	A	T	5: 138,062,971 (GRCm39)	I153F	probably damaging	Het
Spen	G	A	4: 141,203,419 (GRCm39)	S1736L	possibly damaging	Het
Sspo	T	A	6: 48,426,446 (GRCm39)	M155K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sun2	T	C	15: 79,612,100 (GRCm39)	I528M	probably benign	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Taok2	G	T	7: 126,466,326 (GRCm39)	A831E	possibly damaging	Het
Tas2r126	T	C	6: 42,411,739 (GRCm39)	F91L	probably damaging	Het
Tas2r140	A	G	6: 133,031,922 (GRCm39)	S279P	possibly damaging	Het
Tiam1	A	T	16: 89,657,148 (GRCm39)	L696H	probably damaging	Het
Trank1	T	G	9: 111,194,864 (GRCm39)	S963A	possibly damaging	Het
Trf	A	G	9: 103,102,326 (GRCm39)	V184A	probably benign	Het
Ttll13	T	A	7: 79,903,406 (GRCm39)	M231K	possibly damaging	Het
Tuba1a	T	G	15: 98,849,455 (GRCm39)	T41P	probably benign	Het
Zfhx4	A	G	3: 5,478,104 (GRCm39)	Q3573R	probably damaging	Het
Zfp141	G	A	7: 42,124,853 (GRCm39)	H540Y	probably damaging	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
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
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'- GGGCTACATAGTGAGAACCTGTC -3'
(R):5'- CACCTCACTTAGTGCAGCTG -3'

Sequencing Primer
(F):5'- gagaacctgtctcaaaaaaGAG -3'
(R):5'- CTGACGGTAGCTCGGAATTAACC -3'

Posted On

2019-05-15