Mutagenetix > Incidental Mutation

Incidental Mutation 'R9522:Fdft1'

718973

Institutional Source

Beutler Lab

Gene Symbol

Fdft1

Ensembl Gene

ENSMUSG00000021273

Gene Name

farnesyl diphosphate farnesyl transferase 1

Synonyms

squalene synthase, SQS, Ss

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9522 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63382599-63417027 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 63396597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000055313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054963] [ENSMUST00000223810] [ENSMUST00000224625]

AlphaFold

P53798

Predicted Effect

probably null
Transcript: ENSMUST00000054963

SMART Domains

Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223810

Predicted Effect

probably benign
Transcript: ENSMUST00000224625

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.] 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,847,368 (GRCm39)	Y744F	probably null	Het
Adam17	C	A	12: 21,395,693 (GRCm39)	V277F	probably damaging	Het
Adcy8	C	T	15: 64,792,560 (GRCm39)	C132Y	probably damaging	Het
Adgrf3	G	A	5: 30,404,482 (GRCm39)	P318L	possibly damaging	Het
Ahcyl1	A	T	3: 107,579,398 (GRCm39)	I212N	probably damaging	Het
Allc	A	T	12: 28,620,653 (GRCm39)	F33I	probably damaging	Het
Arhgap32	A	G	9: 32,027,450 (GRCm39)	T7A	probably benign	Het
Bbs4	A	G	9: 59,260,691 (GRCm39)		probably null	Het
Btbd1	G	T	7: 81,479,081 (GRCm39)	P20H	unknown	Het
Cass4	A	G	2: 172,269,348 (GRCm39)	I477V	possibly damaging	Het
Cep83	A	G	10: 94,586,184 (GRCm39)	E362G	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cimip2c	A	T	5: 30,623,467 (GRCm39)	S5C	probably damaging	Het
Cntnap5b	A	G	1: 100,412,347 (GRCm39)	D896G	probably benign	Het
Crocc2	T	C	1: 93,117,429 (GRCm39)	V305A	probably benign	Het
Cse1l	G	A	2: 166,776,673 (GRCm39)	V495I	probably benign	Het
Ctsj	A	T	13: 61,152,257 (GRCm39)	Y36*	probably null	Het
Ctss	T	G	3: 95,454,109 (GRCm39)	D220E	probably benign	Het
Ctu1	T	C	7: 43,324,900 (GRCm39)	L113P	probably benign	Het
Cyp2d40	G	A	15: 82,648,274 (GRCm39)	A13V	possibly damaging	Het
Dhrs4	A	T	14: 55,716,219 (GRCm39)		probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dpysl5	C	A	5: 30,935,399 (GRCm39)	Y167*	probably null	Het
E4f1	C	T	17: 24,666,096 (GRCm39)	G234D	probably damaging	Het
Eif3g	G	T	9: 20,809,451 (GRCm39)	T27N	probably benign	Het
Eif3g	T	A	9: 20,809,452 (GRCm39)	T27S	probably benign	Het
Fcrl2	A	G	3: 87,164,101 (GRCm39)	F343L	possibly damaging	Het
Hsd3b9	T	C	3: 98,353,783 (GRCm39)	S239G	probably benign	Het
Igf2r	G	T	17: 12,917,215 (GRCm39)	Q1562K	probably benign	Het
Ilf3	G	A	9: 21,305,533 (GRCm39)	V232I	probably benign	Het
Irx5	C	T	8: 93,087,259 (GRCm39)	T397M	possibly damaging	Het
Kif16b	A	T	2: 142,691,827 (GRCm39)	V219D	probably damaging	Het
Klkb1	T	C	8: 45,730,052 (GRCm39)	I276M	probably benign	Het
Large2	A	G	2: 92,200,266 (GRCm39)	L115P	probably damaging	Het
Lrrc3b	T	C	14: 15,358,423 (GRCm38)	D61G	probably benign	Het
Map7	A	G	10: 20,105,642 (GRCm39)	Y31C	possibly damaging	Het
Moxd2	T	A	6: 40,857,375 (GRCm39)	I462F	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or5b98	T	A	19: 12,931,377 (GRCm39)	C141*	probably null	Het
Or9m2	G	A	2: 87,821,175 (GRCm39)	C240Y	probably damaging	Het
Phf20l1	T	C	15: 66,504,669 (GRCm39)	V770A	possibly damaging	Het
Ppfia4	G	A	1: 134,240,886 (GRCm39)	A819V	probably damaging	Het
Qrfpr	A	G	3: 36,236,676 (GRCm39)	W242R	probably damaging	Het
Rgs3	A	G	4: 62,523,729 (GRCm39)	I53M	probably benign	Het
Rif1	T	C	2: 51,971,311 (GRCm39)	F263S	probably damaging	Het
Rpl22l1	T	C	3: 28,860,743 (GRCm39)		probably null	Het
Ryr3	T	A	2: 112,560,759 (GRCm39)	I3001F	probably benign	Het
Safb2	A	G	17: 56,873,900 (GRCm39)	I675T	probably damaging	Het
Scart2	T	A	7: 139,853,987 (GRCm39)	I330N	possibly damaging	Het
Sec16b	C	T	1: 157,392,335 (GRCm39)	S901L	probably damaging	Het
Setd5	T	G	6: 113,091,995 (GRCm39)	I272S	probably damaging	Het
Slc40a1	A	T	1: 45,948,672 (GRCm39)	M536K	probably damaging	Het
Slfn3	T	C	11: 83,103,825 (GRCm39)	V232A	probably benign	Het
Spata31d1b	T	C	13: 59,864,780 (GRCm39)	S643P	probably benign	Het
Tbc1d23	T	C	16: 57,019,107 (GRCm39)	D251G	probably benign	Het
Tbccd1	T	C	16: 22,641,249 (GRCm39)	E376G	possibly damaging	Het
Tmem184a	G	T	5: 139,791,485 (GRCm39)	P368T	probably benign	Het
Top1mt	T	C	15: 75,539,309 (GRCm39)	D362G	probably damaging	Het
Top6bl	T	C	19: 4,677,274 (GRCm39)	H612R	probably benign	Het
Ugt3a1	C	A	15: 9,370,209 (GRCm39)	P451H	probably damaging	Het
Unc80	G	A	1: 66,677,221 (GRCm39)	C2050Y	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r179	T	C	7: 23,628,202 (GRCm39)	V131A	probably damaging	Het
Wdr89	A	G	12: 75,679,924 (GRCm39)	F110S	probably damaging	Het
Znrf3	T	C	11: 5,232,379 (GRCm39)	Y282C	probably damaging	Het
Zscan18	T	C	7: 12,503,297 (GRCm39)	D754G	possibly damaging	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
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
R9764:Fdft1	UTSW	14	63,400,869 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCATCTACACAGCAGATG -3'
(R):5'- CTATGGATCTCGGGCTTACAAG -3'

Sequencing Primer
(F):5'- GTGGACTCAGATACTAACCTTGTC -3'
(R):5'- TAAACTGACCTTCTTGGAGTGAG -3'

Posted On

2022-07-18