Mutagenetix > Incidental Mutation

Incidental Mutation 'R0012:Fdft1'

150637

Institutional Source

Beutler Lab

Gene Symbol

Fdft1

Ensembl Gene

ENSMUSG00000021273

Gene Name

farnesyl diphosphate farnesyl transferase 1

Synonyms

squalene synthase, SQS, Ss

MMRRC Submission

038307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0012 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

63382599-63417027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63415147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 28 (I28M)

Ref Sequence

ENSEMBL: ENSMUSP00000153238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038229] [ENSMUST00000054963] [ENSMUST00000223810] [ENSMUST00000224625] [ENSMUST00000225157] [ENSMUST00000225841] [ENSMUST00000226002]

AlphaFold

P53798

Predicted Effect

probably benign
Transcript: ENSMUST00000038229

SMART Domains

Protein: ENSMUSP00000045200
Gene: ENSMUSG00000035121

Domain	Start	End	E-Value	Type
Blast:Fapy_DNA_glyco	2	177	7e-94	BLAST
H2TH	188	272	1.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054963
AA Change: I28M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273
AA Change: I28M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223810
AA Change: I28M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000224625
AA Change: I28M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000225157

Predicted Effect

probably benign
Transcript: ENSMUST00000225841

Predicted Effect

probably benign
Transcript: ENSMUST00000226002

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	A	T	2: 130,894,840 (GRCm39)	L687Q	probably damaging	Het
Adap1	A	G	5: 139,293,489 (GRCm39)		probably benign	Het
Add2	T	A	6: 86,075,610 (GRCm39)	V253E	probably damaging	Het
Agtr1a	A	T	13: 30,565,732 (GRCm39)	I266F	probably damaging	Het
Anxa9	A	G	3: 95,215,406 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Bnip3	A	G	7: 138,500,401 (GRCm39)		probably benign	Het
Brwd1	A	C	16: 95,860,852 (GRCm39)	S311R	probably damaging	Het
C2cd3	G	A	7: 100,067,729 (GRCm39)	V871M	possibly damaging	Het
Cacul1	A	G	19: 60,552,691 (GRCm39)	W145R	probably damaging	Het
Celf5	C	A	10: 81,305,346 (GRCm39)	V141L	probably damaging	Het
Cfap206	C	A	4: 34,714,519 (GRCm39)	L392F	possibly damaging	Het
Chd2	G	T	7: 73,105,267 (GRCm39)	T192K	probably damaging	Het
Chrna10	T	C	7: 101,764,264 (GRCm39)	N40S	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clspn	T	A	4: 126,458,722 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col5a3	A	T	9: 20,688,404 (GRCm39)		probably benign	Het
Copb1	T	A	7: 113,836,643 (GRCm39)	K366N	probably damaging	Het
Cul9	G	A	17: 46,849,436 (GRCm39)	R570C	probably benign	Het
Cyp2c70	A	T	19: 40,175,687 (GRCm39)	L7Q	probably null	Het
Dock2	T	C	11: 34,674,622 (GRCm39)	E10G	possibly damaging	Het
Dpysl4	T	G	7: 138,677,799 (GRCm39)	I412S	probably benign	Het
Eaf2	T	A	16: 36,628,536 (GRCm39)		probably benign	Het
Fasl	T	C	1: 161,615,733 (GRCm39)	D41G	probably benign	Het
Fat2	A	G	11: 55,153,697 (GRCm39)	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,620,256 (GRCm39)	F101S	probably damaging	Het
Gcnt3	T	C	9: 69,941,367 (GRCm39)	I400M	probably benign	Het
Get3	T	C	8: 85,751,725 (GRCm39)		probably benign	Het
Gpd2	T	A	2: 57,228,880 (GRCm39)	M228K	probably damaging	Het
Gsap	T	A	5: 21,431,227 (GRCm39)		probably benign	Het
Hipk1	A	G	3: 103,670,996 (GRCm39)	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,154,518 (GRCm39)	I17F	probably damaging	Het
Ints10	C	A	8: 69,260,127 (GRCm39)	L284M	probably benign	Het
Kif17	T	G	4: 138,021,059 (GRCm39)	S606A	probably damaging	Het
Lifr	C	A	15: 7,205,089 (GRCm39)	T442K	possibly damaging	Het
Lypd4	A	G	7: 24,564,757 (GRCm39)	L127P	probably damaging	Het
Lyst	A	G	13: 13,862,279 (GRCm39)	H2605R	probably benign	Het
Map3k4	A	G	17: 12,457,076 (GRCm39)	S1289P	probably damaging	Het
Mgam	T	A	6: 40,742,190 (GRCm39)		probably null	Het
Mob1b	G	A	5: 88,903,943 (GRCm39)		probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Ms4a4c	C	A	19: 11,396,344 (GRCm39)		probably benign	Het
Mthfd2l	A	T	5: 91,109,242 (GRCm39)	H224L	probably damaging	Het
Myh8	T	C	11: 67,190,847 (GRCm39)	Y1350H	probably benign	Het
Nectin2	T	C	7: 19,464,669 (GRCm39)		probably benign	Het
Nos1	A	C	5: 118,031,967 (GRCm39)	N305T	probably damaging	Het
Ogfrl1	T	A	1: 23,409,206 (GRCm39)	Q340L	possibly damaging	Het
Or2aj5	T	C	16: 19,425,190 (GRCm39)	N76S	probably benign	Het
Or4f62	A	T	2: 111,987,171 (GRCm39)	N292Y	possibly damaging	Het
Or6k14	T	G	1: 173,927,773 (GRCm39)	F250V	probably damaging	Het
Or9i1	C	A	19: 13,839,187 (GRCm39)	T10K	probably damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Plekhg5	C	A	4: 152,189,207 (GRCm39)	D249E	probably benign	Het
Plet1	A	G	9: 50,410,430 (GRCm39)	I74V	probably benign	Het
Psmd2	T	A	16: 20,480,434 (GRCm39)	D718E	probably damaging	Het
Rab33b	G	T	3: 51,391,737 (GRCm39)		probably benign	Het
Rae1	T	A	2: 172,844,466 (GRCm39)	F4I	unknown	Het
Ralgapa2	A	G	2: 146,254,672 (GRCm39)	Y821H	probably benign	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Sharpin	G	T	15: 76,232,543 (GRCm39)	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,897,510 (GRCm39)	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,070,469 (GRCm39)	V1061A	probably benign	Het
Suclg1	A	G	6: 73,247,980 (GRCm39)	T234A	possibly damaging	Het
Swsap1	T	C	9: 21,868,318 (GRCm39)	C197R	probably benign	Het
Tbx15	A	G	3: 99,259,412 (GRCm39)	T428A	probably benign	Het
Tet2	T	C	3: 133,182,319 (GRCm39)	Y1215C	probably damaging	Het
Tjp1	A	G	7: 64,979,523 (GRCm39)		probably benign	Het
Tmem209	G	T	6: 30,502,112 (GRCm39)		probably benign	Het
Tnpo3	T	C	6: 29,589,176 (GRCm39)	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,272,283 (GRCm39)	M464K	probably damaging	Het
Ttc32	A	G	12: 9,085,897 (GRCm39)	Y148C	possibly damaging	Het
Unc80	T	C	1: 66,546,550 (GRCm39)	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,847,684 (GRCm39)		probably benign	Het
Vmn2r100	A	G	17: 19,725,136 (GRCm39)	M22V	probably benign	Het
Vmn2r100	A	T	17: 19,746,296 (GRCm39)	E485V	probably damaging	Het
Wdr24	G	A	17: 26,046,087 (GRCm39)	V471I	probably benign	Het
Zfp35	T	A	18: 24,136,001 (GRCm39)	M115K	probably benign	Het
Zfp429	G	A	13: 67,538,796 (GRCm39)	S216L	probably benign	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	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
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
R5371:Fdft1	UTSW	14	63,388,750 (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'- GCAATGGCTTGAACAGACAGAAACC -3'
(R):5'- AACGTTTTCCTGGTGCGAGCAG -3'

Sequencing Primer
(F):5'- CTTGAAAggcggggggg -3'
(R):5'- ATCAACGTCCGTCAGTCC -3'

Posted On

2014-01-24