Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Fnta'

435460

Institutional Source

Beutler Lab

Gene Symbol

Fnta

Ensembl Gene

ENSMUSG00000015994

Gene Name

farnesyltransferase, CAAX box, alpha

Synonyms

FTA

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26488716-26505638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26489564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 349 (D349G)

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: D349G

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

SMART Domains

Protein: ENSMUSP00000016138
Gene: ENSMUSG00000015994
AA Change: D349G

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

0.9328

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,767,501 (GRCm39)	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,764,949 (GRCm39)	N646K	probably benign	Het
Abi2	C	A	1: 60,478,071 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,863,651 (GRCm39)	S35P	probably benign	Het
B4galt3	A	G	1: 171,100,089 (GRCm39)		probably null	Het
Bag5	T	C	12: 111,676,524 (GRCm39)	N433S	probably benign	Het
Birc7	T	A	2: 180,574,772 (GRCm39)	V218D	probably benign	Het
Catsperg1	T	G	7: 28,895,296 (GRCm39)	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,728,976 (GRCm39)	T179P	probably damaging	Het
Col4a3	C	T	1: 82,692,968 (GRCm39)		probably benign	Het
Crlf1	A	G	8: 70,951,317 (GRCm39)	I65M	probably benign	Het
Dennd4a	T	G	9: 64,811,509 (GRCm39)	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dlg4	C	T	11: 69,933,106 (GRCm39)	P504L	probably damaging	Het
Dop1b	A	G	16: 93,560,819 (GRCm39)	T886A	probably damaging	Het
Dst	T	A	1: 34,321,667 (GRCm39)	V4394E	probably damaging	Het
Endov	T	C	11: 119,393,186 (GRCm39)	M112T	possibly damaging	Het
Eps8	T	C	6: 137,456,094 (GRCm39)	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,771,791 (GRCm39)	Y7*	probably null	Het
Farsb	C	T	1: 78,445,888 (GRCm39)		probably null	Het
Fasn	A	G	11: 120,703,252 (GRCm39)	M1591T	probably benign	Het
Fbn2	C	T	18: 58,248,731 (GRCm39)	A384T	probably benign	Het
Glis3	G	T	19: 28,241,409 (GRCm39)	H842N	probably benign	Het
Gm17067	G	A	7: 42,357,945 (GRCm39)	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hk3	A	T	13: 55,159,888 (GRCm39)	L362*	probably null	Het
Ing3	A	G	6: 21,968,908 (GRCm39)	H130R	possibly damaging	Het
Inpp4b	A	T	8: 82,678,888 (GRCm39)	Q306L	probably damaging	Het
Kcnq2	T	C	2: 180,776,690 (GRCm39)	K66E	probably benign	Het
Kif21b	C	A	1: 136,097,797 (GRCm39)	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,808,003 (GRCm39)	N84Y	probably damaging	Het
Mill2	T	A	7: 18,589,884 (GRCm39)	Y55*	probably null	Het
Mmachc	T	C	4: 116,563,097 (GRCm39)	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259 (GRCm39)	V524A	probably benign	Het
Or10ag54	A	T	2: 87,099,736 (GRCm39)	T204S	possibly damaging	Het
Or1q1	T	A	2: 36,887,358 (GRCm39)	C179S	probably damaging	Het
Or4c102	G	A	2: 88,422,897 (GRCm39)	V250M	probably damaging	Het
Or5af1	G	A	11: 58,722,813 (GRCm39)	V278I	probably benign	Het
Or5b101	C	A	19: 13,005,004 (GRCm39)	A230S	probably benign	Het
Or7g19	T	C	9: 18,856,466 (GRCm39)	I174T	possibly damaging	Het
Pigu	G	T	2: 155,120,549 (GRCm39)	Y404*	probably null	Het
Plaa	A	T	4: 94,472,244 (GRCm39)		probably null	Het
Plcg2	A	T	8: 118,313,296 (GRCm39)	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,867,580 (GRCm39)	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,000 (GRCm39)	V1030D	probably benign	Het
Raver2	C	A	4: 100,993,336 (GRCm39)	S505R	probably benign	Het
Samd7	A	T	3: 30,810,769 (GRCm39)	Q262L	probably benign	Het
Scn9a	T	A	2: 66,377,447 (GRCm39)	N412Y	probably damaging	Het
Sytl1	C	A	4: 132,986,667 (GRCm39)	R91M	probably damaging	Het
Tead3	A	T	17: 28,555,244 (GRCm39)		probably benign	Het
Tgm1	A	G	14: 55,943,100 (GRCm39)	M580T	probably benign	Het
Themis	A	T	10: 28,657,882 (GRCm39)	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,086,466 (GRCm39)	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 84,894,144 (GRCm39)	V695A	probably damaging	Het
Trim23	A	T	13: 104,324,017 (GRCm39)	T159S	probably damaging	Het
Trim66	T	C	7: 109,082,944 (GRCm39)	Y166C	probably benign	Het
Troap	A	T	15: 98,973,675 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	C	2: 76,720,734 (GRCm39)		probably null	Het
Tub	T	G	7: 108,624,925 (GRCm39)	S180A	probably damaging	Het
Vcan	A	G	13: 89,851,231 (GRCm39)	V1243A	possibly damaging	Het
Zfp608	T	C	18: 55,120,942 (GRCm39)	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,944,345 (GRCm39)	V1021E	probably damaging	Het
Zim1	T	A	7: 6,680,710 (GRCm39)	I318F	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
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'- TTCTTGTTAAAAGCAGCACCTGG -3'
(R):5'- ACCTCATGGAGTTTCTCAGGG -3'

Sequencing Primer
(F):5'- AGCACCTGGACAGCTTTAG -3'
(R):5'- CATGGAGTTTCTCAGGGCTCTTTC -3'

Posted On

2016-10-24