Mutagenetix > Incidental Mutation

Incidental Mutation 'R1772:Fnta'

196704

Institutional Source

Beutler Lab

Gene Symbol

Fnta

Ensembl Gene

ENSMUSG00000015994

Gene Name

farnesyltransferase, CAAX box, alpha

Synonyms

FTA

MMRRC Submission

039803-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26488716-26505638 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 26490994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
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

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.5%

Validation Efficiency

97% (107/110)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,258,465 (GRCm39)		probably benign	Het
Aldh1a7	T	C	19: 20,693,383 (GRCm39)	K179E	probably damaging	Het
Angptl7	G	A	4: 148,581,883 (GRCm39)	R168C	probably damaging	Het
Atp8b1	T	A	18: 64,706,563 (GRCm39)	I208F	possibly damaging	Het
Bco1	A	G	8: 117,857,347 (GRCm39)	Y438C	probably benign	Het
Bltp1	T	C	3: 37,013,581 (GRCm39)	S1937P	probably damaging	Het
Btrc	A	C	19: 45,501,100 (GRCm39)	K218Q	probably damaging	Het
Cct8l1	G	A	5: 25,722,697 (GRCm39)	V471M	probably damaging	Het
Cd180	C	T	13: 102,842,750 (GRCm39)	L599F	probably benign	Het
Cd300e	T	C	11: 114,945,344 (GRCm39)	N150S	probably benign	Het
Clcn1	C	A	6: 42,271,079 (GRCm39)	T281K	probably damaging	Het
Cnnm3	T	C	1: 36,558,038 (GRCm39)	S417P	probably damaging	Het
Cspg4	T	A	9: 56,804,776 (GRCm39)	S1862R	probably benign	Het
Cspg5	A	T	9: 110,091,206 (GRCm39)	N432Y	probably damaging	Het
Cyp2r1	T	A	7: 114,152,451 (GRCm39)	I169F	probably damaging	Het
D130043K22Rik	T	A	13: 25,059,982 (GRCm39)	S618T	probably damaging	Het
Diaph3	G	A	14: 87,202,985 (GRCm39)	P635L	probably damaging	Het
Dlg1	A	G	16: 31,484,485 (GRCm39)	I38V	possibly damaging	Het
Dlk1	T	G	12: 109,425,685 (GRCm39)	V186G	probably damaging	Het
Dmxl2	T	C	9: 54,330,508 (GRCm39)		probably benign	Het
Dnajc17	G	A	2: 119,014,164 (GRCm39)	R132*	probably null	Het
Dock9	G	T	14: 121,847,210 (GRCm39)	N1042K	probably benign	Het
Dok7	A	T	5: 35,243,994 (GRCm39)	Q511L	probably damaging	Het
Espnl	G	A	1: 91,272,325 (GRCm39)	E562K	possibly damaging	Het
Evi5	G	A	5: 107,943,707 (GRCm39)	T562I	probably benign	Het
Exd2	T	A	12: 80,536,253 (GRCm39)	D294E	probably benign	Het
Fbn1	A	T	2: 125,245,148 (GRCm39)	D246E	possibly damaging	Het
Fbxw16	A	T	9: 109,268,650 (GRCm39)	W247R	possibly damaging	Het
Fcer1a	A	G	1: 173,053,004 (GRCm39)	I64T	probably benign	Het
Fcgbp	C	A	7: 27,804,600 (GRCm39)	Q1903K	possibly damaging	Het
Fmn1	A	G	2: 113,195,700 (GRCm39)	S467G	unknown	Het
Fndc7	T	A	3: 108,777,850 (GRCm39)	T369S	probably damaging	Het
Gak	A	T	5: 108,754,758 (GRCm39)	H289Q	probably damaging	Het
Gas2l3	A	G	10: 89,252,876 (GRCm39)		probably benign	Het
Gbp8	T	C	5: 105,163,987 (GRCm39)	N437S	probably benign	Het
Gk5	G	A	9: 96,032,850 (GRCm39)		probably null	Het
Hid1	A	T	11: 115,239,299 (GRCm39)	V788E	probably damaging	Het
Hmcn1	T	C	1: 150,439,319 (GRCm39)	T5505A	probably damaging	Het
Igf1r	T	A	7: 67,844,822 (GRCm39)	M865K	probably benign	Het
Katnal2	G	A	18: 77,090,233 (GRCm39)	T258I	probably damaging	Het
Kdm3b	A	T	18: 34,936,557 (GRCm39)	I280L	probably benign	Het
Kif24	A	G	4: 41,409,787 (GRCm39)	V382A	probably damaging	Het
Kif2a	A	T	13: 107,114,640 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,333,022 (GRCm39)	I56V	probably benign	Het
Klk6	C	T	7: 43,478,695 (GRCm39)	Q201*	probably null	Het
Klra3	A	T	6: 130,300,671 (GRCm39)	S233T	probably benign	Het
Krt9	A	T	11: 100,082,131 (GRCm39)	M223K	probably damaging	Het
Lama4	G	A	10: 38,936,220 (GRCm39)	E632K	probably benign	Het
Lamb1	T	C	12: 31,328,524 (GRCm39)	Y163H	probably damaging	Het
Lipo3	A	G	19: 33,764,821 (GRCm39)	I11T	probably benign	Het
Lix1l	T	A	3: 96,531,207 (GRCm39)	H333Q	possibly damaging	Het
Mal2	T	A	15: 54,451,783 (GRCm39)	M68K	probably damaging	Het
Map2k2	T	C	10: 80,956,934 (GRCm39)	I104T	probably damaging	Het
Matn2	T	C	15: 34,428,931 (GRCm39)	V765A	probably damaging	Het
Mptx2	T	A	1: 173,102,040 (GRCm39)	K216N	probably damaging	Het
Mup5	C	T	4: 61,750,578 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,419,855 (GRCm39)	Y2494H	probably damaging	Het
Myh3	G	A	11: 66,990,220 (GRCm39)	D1622N	probably benign	Het
Myo6	T	C	9: 80,177,331 (GRCm39)	I609T	possibly damaging	Het
Ndst1	G	A	18: 60,835,909 (GRCm39)	T458I	probably damaging	Het
Neb	A	T	2: 52,125,689 (GRCm39)	Y3622N	probably damaging	Het
Ntm	A	G	9: 29,090,396 (GRCm39)	Y108H	probably benign	Het
Or13c3	T	G	4: 52,855,730 (GRCm39)	K261T	probably benign	Het
Or1a1b	T	C	11: 74,097,398 (GRCm39)	I215V	probably benign	Het
Or52e19	T	C	7: 102,959,449 (GRCm39)	Y174H	possibly damaging	Het
Pappa2	T	A	1: 158,641,938 (GRCm39)	I1373F	possibly damaging	Het
Pear1	A	G	3: 87,661,799 (GRCm39)		probably benign	Het
Phc3	C	T	3: 31,015,969 (GRCm39)	A81T	probably damaging	Het
Pmepa1	A	G	2: 173,076,153 (GRCm39)	S105P	probably damaging	Het
Ppp6r1	T	C	7: 4,645,030 (GRCm39)	I248V	probably benign	Het
Prdm4	G	A	10: 85,729,256 (GRCm39)	T717I	probably damaging	Het
Prom1	T	C	5: 44,168,566 (GRCm39)	T669A	probably benign	Het
Ptpn5	T	A	7: 46,740,516 (GRCm39)	I96F	probably benign	Het
Ptpro	T	C	6: 137,407,741 (GRCm39)	L922P	probably damaging	Het
Reck	A	T	4: 43,890,982 (GRCm39)	H40L	probably benign	Het
Rreb1	T	A	13: 38,114,899 (GRCm39)	C753S	probably benign	Het
Sacs	T	C	14: 61,448,346 (GRCm39)	L3464P	probably damaging	Het
Samsn1	A	T	16: 75,667,663 (GRCm39)	D304E	probably benign	Het
Scgb2b3	T	C	7: 31,059,621 (GRCm39)	N51S	possibly damaging	Het
Shroom3	T	C	5: 93,088,515 (GRCm39)	S341P	probably damaging	Het
Siglece	T	C	7: 43,308,717 (GRCm39)	D212G	probably damaging	Het
Sirpa	A	G	2: 129,458,376 (GRCm39)	T331A	probably damaging	Het
Spata21	T	C	4: 140,838,607 (GRCm39)	S553P	possibly damaging	Het
Speer4b	T	A	5: 27,705,236 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,247,376 (GRCm39)	D552G	probably damaging	Het
Stab2	A	G	10: 86,790,098 (GRCm39)	I556T	probably benign	Het
Strip1	C	T	3: 107,534,047 (GRCm39)		probably null	Het
Stxbp6	T	A	12: 44,949,653 (GRCm39)	D92V	probably damaging	Het
Styx	A	G	14: 45,594,215 (GRCm39)	K46E	probably damaging	Het
Supt20	T	A	3: 54,617,841 (GRCm39)	V314E	probably damaging	Het
Syne2	T	A	12: 75,985,503 (GRCm39)	D1650E	probably benign	Het
Szt2	T	A	4: 118,262,714 (GRCm39)	K21M	probably damaging	Het
Tbx4	A	T	11: 85,802,033 (GRCm39)	H222L	probably damaging	Het
Tcstv1b	T	A	13: 120,634,725 (GRCm39)	D2E	probably benign	Het
Tmx3	A	T	18: 90,551,121 (GRCm39)	I254L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpv2	A	T	11: 62,485,052 (GRCm39)		probably benign	Het
Ubap2	A	G	4: 41,202,380 (GRCm39)	S683P	probably benign	Het
Ube2d3	C	T	3: 135,170,972 (GRCm39)	R139W	probably benign	Het
Ubox5	G	T	2: 130,433,794 (GRCm39)	Q518K	probably benign	Het
Usp42	T	C	5: 143,702,857 (GRCm39)	N588S	probably damaging	Het
Vars2	G	A	17: 35,970,976 (GRCm39)	T618M	probably damaging	Het
Wfdc17	A	T	11: 83,595,730 (GRCm39)	N65Y	probably damaging	Het
Zbtb38	G	A	9: 96,570,094 (GRCm39)	P330L	probably damaging	Het
Zfp385a	C	T	15: 103,224,308 (GRCm39)		probably null	Het
Zfp637	T	A	6: 117,822,373 (GRCm39)	L167H	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
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'- TCACTGGATGCAACACTGACAGC -3'
(R):5'- ACCCATTCATTGGCAGGCAGAC -3'

Sequencing Primer
(F):5'- GCACTGTTCTGAAAACTGGACTG -3'
(R):5'- CAGGCAGACGTGAATGTTG -3'

Posted On

2014-05-23