Mutagenetix > Incidental Mutation

Incidental Mutation 'R9313:Fdps'

705697

Institutional Source

Beutler Lab

Gene Symbol

Fdps

Ensembl Gene

ENSMUSG00000059743

Gene Name

farnesyl diphosphate synthetase

Synonyms

6030492I17Rik, Fdpsl1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R9313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89000895-89009266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89006655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 78 (D78E)

Ref Sequence

ENSEMBL: ENSMUSP00000080531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081848] [ENSMUST00000196254] [ENSMUST00000196709] [ENSMUST00000196921] [ENSMUST00000199668] [ENSMUST00000200659]

AlphaFold

Q920E5

Predicted Effect

probably benign
Transcript: ENSMUST00000081848
AA Change: D78E

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

SMART Domains

Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	47	313	2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196254

SMART Domains

Protein: ENSMUSP00000142669
Gene: ENSMUSG00000059743

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	1	238	3.6e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196709
AA Change: D78E

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

SMART Domains

Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	44	316	8.7e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196921
AA Change: D145E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142704
Gene: ENSMUSG00000059743
AA Change: D145E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:polyprenyl_synt	111	226	7.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199668
AA Change: D78E

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

SMART Domains

Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	44	121	3.2e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200659
AA Change: D145E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: D145E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:polyprenyl_synt	111	334	3.2e-55	PFAM
low complexity region	548	559	N/A	INTRINSIC
RUN	560	628	9.3e-19	SMART
low complexity region	640	654	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC
low complexity region	724	741	N/A	INTRINSIC
SH3	809	862	2.8e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Aadat	G	A	8: 60,979,635 (GRCm39)	V166I	probably benign	Het
Abca17	C	T	17: 24,565,207 (GRCm39)	S75N	probably benign	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Atp5po	CTTTGACG	C	16: 91,723,804 (GRCm39)		probably null	Het
Atp5po	TTTGACGGT	TT	16: 91,723,805 (GRCm39)		probably null	Het
Car9	A	G	4: 43,507,180 (GRCm39)	E42G	probably benign	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Cep41	T	C	6: 30,680,345 (GRCm39)	K9R	probably null	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Ckm	A	G	7: 19,149,398 (GRCm39)	T141A	probably benign	Het
Clcc1	G	T	3: 108,581,976 (GRCm39)	R360S	probably benign	Het
Clcn3	A	C	8: 61,390,503 (GRCm39)	I146R	probably damaging	Het
Crlf1	A	G	8: 70,951,466 (GRCm39)	D115G	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dop1a	T	C	9: 86,406,641 (GRCm39)	*386Q	probably null	Het
Eftud2	A	G	11: 102,730,262 (GRCm39)	V899A	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Faap100	A	G	11: 120,267,688 (GRCm39)	S362P	probably damaging	Het
Fsd1l	T	G	4: 53,694,760 (GRCm39)	W405G	probably damaging	Het
Fsd1l	T	C	4: 53,701,093 (GRCm39)	V485A	possibly damaging	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hmcn1	A	C	1: 150,522,343 (GRCm39)	V3519G	probably benign	Het
Hmgcs1	A	G	13: 120,165,963 (GRCm39)	Y360C	probably benign	Het
Hsd17b13	A	G	5: 104,113,639 (GRCm39)		probably null	Het
Ift57	T	A	16: 49,557,085 (GRCm39)	D235E	possibly damaging	Het
Il22b	A	G	10: 118,130,138 (GRCm39)	C89R	probably damaging	Het
Iqcn	G	A	8: 71,161,353 (GRCm39)	G182D	probably damaging	Het
Krt9	T	A	11: 100,079,547 (GRCm39)	Y615F	unknown	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Marco	T	C	1: 120,421,814 (GRCm39)	E130G	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Mtus1	A	T	8: 41,535,923 (GRCm39)	S598T	probably damaging	Het
Nbeal2	C	A	9: 110,463,436 (GRCm39)	R1265L	probably damaging	Het
Odf2	G	T	2: 29,816,815 (GRCm39)	G754C	probably benign	Het
Or2m12	T	G	16: 19,105,100 (GRCm39)	Y131S	probably benign	Het
Or4x13	C	A	2: 90,231,917 (GRCm39)	T304K	probably benign	Het
Or5w11	T	C	2: 87,459,076 (GRCm39)	S90P	probably benign	Het
Or6c69b	A	T	10: 129,626,789 (GRCm39)	I223N	probably damaging	Het
Paqr8	G	A	1: 21,005,128 (GRCm39)	W94*	probably null	Het
Pkd1	G	A	17: 24,813,932 (GRCm39)	G4132D	probably damaging	Het
Pom121l2	A	G	13: 22,168,506 (GRCm39)	M926V	probably benign	Het
Postn	A	T	3: 54,273,336 (GRCm39)	Y79F	probably damaging	Het
Prl7d1	T	C	13: 27,893,182 (GRCm39)	E242G	probably benign	Het
Rcor3	G	T	1: 191,810,181 (GRCm39)	H165Q	possibly damaging	Het
Rnf157	A	G	11: 116,250,718 (GRCm39)	V161A	probably damaging	Het
Rnf38	G	A	4: 44,143,584 (GRCm39)	T150M	probably damaging	Het
Scn4b	T	A	9: 45,058,013 (GRCm39)	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,231,672 (GRCm39)	I103T	probably damaging	Het
Shcbp1	T	A	8: 4,794,518 (GRCm39)	D425V	probably damaging	Het
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Siglecg	A	G	7: 43,061,856 (GRCm39)	D534G	probably benign	Het
Sipa1l3	T	A	7: 29,077,439 (GRCm39)	T778S	probably benign	Het
Slc13a1	A	G	6: 24,108,203 (GRCm39)	V291A	probably benign	Het
Stra6l	A	G	4: 45,881,454 (GRCm39)	I439V	probably benign	Het
Tdrd7	G	A	4: 46,005,319 (GRCm39)	S375N	probably benign	Het
Tut7	A	T	13: 59,947,798 (GRCm39)	M841K	probably benign	Het
Vmn1r192	T	A	13: 22,372,191 (GRCm39)	I10L	probably benign	Het
Vmn2r34	T	G	7: 7,686,817 (GRCm39)	L293F	possibly damaging	Het
Xirp2	G	T	2: 67,347,322 (GRCm39)	A3188S	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp341	C	A	2: 154,469,907 (GRCm39)	P197T	probably damaging	Het
Zfp628	G	A	7: 4,922,549 (GRCm39)	R257H	probably benign	Het
Zfp644	T	G	5: 106,784,324 (GRCm39)	Y741S	probably benign	Het

Other mutations in Fdps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Fdps	APN	3	89,001,749 (GRCm39)	splice site	probably benign
IGL01364:Fdps	APN	3	89,001,577 (GRCm39)	nonsense	probably null
broadside	UTSW	3	89,008,068 (GRCm39)	missense	probably damaging	1.00
R0245:Fdps	UTSW	3	89,001,078 (GRCm39)	missense	possibly damaging	0.84
R0385:Fdps	UTSW	3	89,002,201 (GRCm39)	missense	probably damaging	1.00
R1674:Fdps	UTSW	3	89,008,037 (GRCm39)	missense	probably benign	0.33
R1820:Fdps	UTSW	3	89,002,350 (GRCm39)	missense	probably benign
R4467:Fdps	UTSW	3	89,008,093 (GRCm39)	missense	possibly damaging	0.71
R5106:Fdps	UTSW	3	89,006,710 (GRCm39)	missense	probably damaging	0.99
R5700:Fdps	UTSW	3	89,002,956 (GRCm39)	missense	probably damaging	1.00
R6128:Fdps	UTSW	3	89,006,740 (GRCm39)	missense	possibly damaging	0.77
R6791:Fdps	UTSW	3	89,002,659 (GRCm39)	critical splice donor site	probably null
R6800:Fdps	UTSW	3	89,008,068 (GRCm39)	missense	probably damaging	1.00
R6812:Fdps	UTSW	3	89,001,783 (GRCm39)	missense	possibly damaging	0.51
R6927:Fdps	UTSW	3	89,000,958 (GRCm39)	missense	probably benign	0.41
R7585:Fdps	UTSW	3	89,001,113 (GRCm39)	missense	probably benign	0.17
R7599:Fdps	UTSW	3	89,006,693 (GRCm39)	missense	probably benign	0.05
R7691:Fdps	UTSW	3	89,006,674 (GRCm39)	missense	probably benign	0.01
R7709:Fdps	UTSW	3	89,008,397 (GRCm39)	missense	probably damaging	0.97
R8035:Fdps	UTSW	3	89,002,783 (GRCm39)	missense	probably benign	0.04
R8132:Fdps	UTSW	3	89,006,693 (GRCm39)	nonsense	probably null
R8297:Fdps	UTSW	3	89,001,048 (GRCm39)	missense	probably damaging	0.99
R8323:Fdps	UTSW	3	89,002,696 (GRCm39)	missense	possibly damaging	0.93
R9056:Fdps	UTSW	3	89,006,639 (GRCm39)	missense	probably benign	0.01
X0060:Fdps	UTSW	3	89,001,621 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- ACTGCCTAAATGTGACTACAGC -3'
(R):5'- GCCCATAGGATGTTGGAGAG -3'

Sequencing Primer
(F):5'- TGTGACTACAGCACACAAGAG -3'
(R):5'- TGATCCAGGGGCTCTCCAAG -3'

Posted On

2022-03-25