Mutagenetix > Incidental Mutation

Incidental Mutation 'R5371:Fdft1'

478309

Institutional Source

Beutler Lab

Gene Symbol

Fdft1

Ensembl Gene

ENSMUSG00000021273

Gene Name

farnesyl diphosphate farnesyl transferase 1

Synonyms

squalene synthase, SQS, Ss

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63382599-63417027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63388750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 294 (V294A)

Ref Sequence

ENSEMBL: ENSMUSP00000153671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054963] [ENSMUST00000224625]

AlphaFold

P53798

Predicted Effect

probably damaging
Transcript: ENSMUST00000054963
AA Change: V294A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273
AA Change: V294A

Domain	Start	End	E-Value	Type
Pfam:SQS_PSY	47	320	2.1e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000224625
AA Change: V294A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.5868

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (71/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die around E9.5-10.5. Conditional homozygous null in which the gene is deleted specifically in oligodendrocyte and Schwann cell display dysmyelination of spinal cord and brain white matter, and showed ataxia and tremor. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,261,918 (GRCm39)		noncoding transcript	Het
Arpp21	G	A	9: 111,895,000 (GRCm39)	P755S	probably benign	Het
Aspm	C	T	1: 139,398,279 (GRCm39)	Q982*	probably null	Het
Atp5f1e	C	T	2: 174,304,319 (GRCm39)		probably benign	Het
BC024139	A	G	15: 76,004,886 (GRCm39)	*598Q	probably null	Het
Bcl6	T	A	16: 23,788,736 (GRCm39)	D544V	possibly damaging	Het
Ccdc9	A	T	7: 16,014,655 (GRCm39)	D195E	probably damaging	Het
Cd38	A	G	5: 44,026,225 (GRCm39)	N3S	probably benign	Het
Cfap46	A	T	7: 139,212,097 (GRCm39)		probably null	Het
Cmtr2	T	C	8: 110,948,044 (GRCm39)	F118S	probably damaging	Het
Cyp7a1	A	G	4: 6,268,378 (GRCm39)	F449S	probably damaging	Het
Dnah10	C	T	5: 124,820,693 (GRCm39)	A509V	probably benign	Het
Dsp	A	T	13: 38,378,865 (GRCm39)	Q1271L	probably damaging	Het
Edar	A	C	10: 58,443,274 (GRCm39)	V284G	possibly damaging	Het
Gba1	T	A	3: 89,112,778 (GRCm39)	V140E	probably benign	Het
Gm12185	A	T	11: 48,806,566 (GRCm39)	S208R	probably benign	Het
Gm21028	C	A	7: 42,227,946 (GRCm39)	E23*	probably null	Het
Gm6871	A	G	7: 41,222,992 (GRCm39)	L32P	probably benign	Het
Hhip	C	T	8: 80,724,220 (GRCm39)	V341M	probably damaging	Het
Kcnq2	C	A	2: 180,776,813 (GRCm39)	V25L	probably damaging	Het
Krit1	C	A	5: 3,881,551 (GRCm39)	H548N	probably damaging	Het
Kynu	C	T	2: 43,479,406 (GRCm39)	A100V	probably benign	Het
Lpp	T	C	16: 24,708,554 (GRCm39)	C295R	probably damaging	Het
Mdp1	A	G	14: 55,897,806 (GRCm39)	V9A	probably damaging	Het
Mllt3	T	C	4: 87,759,093 (GRCm39)	I318M	possibly damaging	Het
Mpzl3	A	G	9: 44,966,510 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mup8	A	G	4: 60,222,423 (GRCm39)	V16A	probably benign	Het
Myh13	T	A	11: 67,235,616 (GRCm39)		probably null	Het
Myh4	A	T	11: 67,150,150 (GRCm39)	Q1869L	probably damaging	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or13c7b	A	T	4: 43,821,058 (GRCm39)	M101K	probably damaging	Het
Or51h7	T	A	7: 102,591,719 (GRCm39)	M22L	probably benign	Het
Or5d43	C	A	2: 88,104,976 (GRCm39)	C139F	probably damaging	Het
Parp11	T	C	6: 127,447,755 (GRCm39)	F30L	probably damaging	Het
Pcdhgc3	A	T	18: 37,941,507 (GRCm39)	D636V	possibly damaging	Het
Ppp1cb	T	C	5: 32,643,332 (GRCm39)	F234L	probably damaging	Het
Rras2	A	T	7: 113,649,572 (GRCm39)	V164E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Scg3	T	C	9: 75,568,583 (GRCm39)	T390A	probably damaging	Het
Shh	C	A	5: 28,671,688 (GRCm39)	C25F	probably damaging	Het
Slc24a1	T	C	9: 64,856,550 (GRCm39)	K119R	unknown	Het
Speg	G	T	1: 75,408,037 (GRCm39)	R3244L	possibly damaging	Het
Spns1	A	G	7: 125,972,936 (GRCm39)		probably benign	Het
Sptbn4	A	C	7: 27,059,166 (GRCm39)		probably null	Het
Stap1	T	A	5: 86,244,375 (GRCm39)	F214Y	possibly damaging	Het
Tcerg1	T	A	18: 42,652,600 (GRCm39)	M76K	unknown	Het
Tjp1	A	T	7: 64,963,059 (GRCm39)	Y959*	probably null	Het
Tmprss11e	A	T	5: 86,875,225 (GRCm39)	C14S	probably benign	Het
Tnfrsf14	T	C	4: 155,006,934 (GRCm39)		probably null	Het
Tsfm	A	C	10: 126,847,512 (GRCm39)	V193G	probably benign	Het
Ube2q2l	T	A	6: 136,378,371 (GRCm39)	Y153F	probably benign	Het
Ush2a	A	T	1: 188,175,267 (GRCm39)	I1122L	probably benign	Het
Vmn1r74	T	A	7: 11,580,984 (GRCm39)	S95T	probably damaging	Het
Vmn2r98	G	A	17: 19,290,015 (GRCm39)	C517Y	probably damaging	Het
Vstm2b	G	A	7: 40,550,702 (GRCm39)	S99N	possibly damaging	Het
Zbtb24	A	G	10: 41,327,537 (GRCm39)	N141S	probably benign	Het
Zcchc4	T	G	5: 52,942,512 (GRCm39)	C106G	probably benign	Het

Other mutations in Fdft1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03035:Fdft1	APN	14	63,400,838 (GRCm39)	nonsense	probably null
PIT4515001:Fdft1	UTSW	14	63,402,032 (GRCm39)	missense	probably benign	0.30
R0012:Fdft1	UTSW	14	63,415,147 (GRCm39)	missense	probably benign	0.03
R0442:Fdft1	UTSW	14	63,400,798 (GRCm39)	missense	probably benign	0.29
R0735:Fdft1	UTSW	14	63,400,869 (GRCm39)	missense	probably damaging	1.00
R1674:Fdft1	UTSW	14	63,402,034 (GRCm39)	missense	probably benign	0.20
R1689:Fdft1	UTSW	14	63,394,138 (GRCm39)	missense	probably benign	0.00
R3116:Fdft1	UTSW	14	63,415,147 (GRCm39)	missense	probably benign	0.03
R3418:Fdft1	UTSW	14	63,394,070 (GRCm39)	missense	probably damaging	1.00
R5033:Fdft1	UTSW	14	63,400,853 (GRCm39)	missense	probably damaging	1.00
R5274:Fdft1	UTSW	14	63,389,792 (GRCm39)	missense	probably damaging	1.00
R5747:Fdft1	UTSW	14	63,384,288 (GRCm39)	missense	probably damaging	1.00
R6343:Fdft1	UTSW	14	63,388,721 (GRCm39)	missense	probably damaging	1.00
R9360:Fdft1	UTSW	14	63,415,189 (GRCm39)	nonsense	probably null
R9522:Fdft1	UTSW	14	63,396,597 (GRCm39)	critical splice acceptor site	probably null
R9764:Fdft1	UTSW	14	63,400,869 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTCTGGTTAAACAGCGAC -3'
(R):5'- GGCTAAATGACAGAATAACCCTGTTG -3'

Sequencing Primer
(F):5'- GGTTAAACAGCGACATGATTTAATGC -3'
(R):5'- CCCTGTTGGTGAGTGTGG -3'

Posted On

2017-06-23