Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Fdps'

36149

Institutional Source

Beutler Lab

Gene Symbol

Fdps

Ensembl Gene

ENSMUSG00000059743

Gene Name

farnesyl diphosphate synthetase

Synonyms

6030492I17Rik, Fdpsl1

MMRRC Submission

038483-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0245 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89000895-89009266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89001078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 334 (S334P)

Ref Sequence

ENSEMBL: ENSMUSP00000142694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000081848] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196043] [ENSMUST00000196223] [ENSMUST00000200659] [ENSMUST00000196709] [ENSMUST00000196254] [ENSMUST00000199668] [ENSMUST00000196921]

AlphaFold

Q920E5

Predicted Effect

probably benign
Transcript: ENSMUST00000052539

SMART Domains

Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263

Domain	Start	End	E-Value	Type
low complexity region	95	117	N/A	INTRINSIC
low complexity region	149	165	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	389	402	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
low complexity region	577	588	N/A	INTRINSIC
RUN	589	657	2.75e-16	SMART
low complexity region	669	683	N/A	INTRINSIC
low complexity region	702	714	N/A	INTRINSIC
low complexity region	753	770	N/A	INTRINSIC
SH3	838	893	4.32e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081848
AA Change: S312P

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743
AA Change: S312P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000090929

SMART Domains

Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263

Domain	Start	End	E-Value	Type
low complexity region	95	117	N/A	INTRINSIC
low complexity region	149	165	N/A	INTRINSIC
internal_repeat_1	195	244	5.11e-5	PROSPERO
internal_repeat_1	247	292	5.11e-5	PROSPERO
low complexity region	374	383	N/A	INTRINSIC
low complexity region	389	402	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
low complexity region	463	479	N/A	INTRINSIC
low complexity region	522	543	N/A	INTRINSIC
low complexity region	546	584	N/A	INTRINSIC
low complexity region	714	725	N/A	INTRINSIC
RUN	726	794	2.75e-16	SMART
low complexity region	806	820	N/A	INTRINSIC
low complexity region	839	851	N/A	INTRINSIC
low complexity region	890	907	N/A	INTRINSIC
SH3	975	1030	4.32e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000103960

Predicted Effect

probably benign
Transcript: ENSMUST00000166687

SMART Domains

Protein: ENSMUSP00000130477
Gene: ENSMUSG00000041263

Domain	Start	End	E-Value	Type
low complexity region	115	126	N/A	INTRINSIC
RUN	127	195	2.75e-16	SMART
low complexity region	207	221	N/A	INTRINSIC
low complexity region	240	252	N/A	INTRINSIC
low complexity region	291	308	N/A	INTRINSIC
SH3	376	431	4.32e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196043

SMART Domains

Protein: ENSMUSP00000142622
Gene: ENSMUSG00000041263

Domain	Start	End	E-Value	Type
PDB:4GIW\|B	8	79	5e-45	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000196223

SMART Domains

Protein: ENSMUSP00000143662
Gene: ENSMUSG00000041263

Domain	Start	End	E-Value	Type
Pfam:RUN	61	166	2.1e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200659
AA Change: S334P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: S334P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196709
AA Change: S312P

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743
AA Change: S312P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196254
AA Change: S234P

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142669
Gene: ENSMUSG00000059743
AA Change: S234P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200433

Predicted Effect

probably benign
Transcript: ENSMUST00000199668

SMART Domains

Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196921

SMART Domains

Protein: ENSMUSP00000142704
Gene: ENSMUSG00000059743

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,378,168 (GRCm39)		probably benign	Het
Actmap	T	A	7: 26,900,028 (GRCm39)	C98S	possibly damaging	Het
Adgrg6	T	A	10: 14,333,810 (GRCm39)		probably benign	Het
Adra2a	G	C	19: 54,035,840 (GRCm39)	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Asic3	C	A	5: 24,618,836 (GRCm39)	R43S	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Btbd2	A	T	10: 80,483,640 (GRCm39)	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,581,415 (GRCm39)	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,285,682 (GRCm39)	D803V	probably damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,519,517 (GRCm39)	D56V	probably benign	Het
Dnah7a	T	C	1: 53,540,685 (GRCm39)	Y2563C	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
E2f7	C	A	10: 110,610,656 (GRCm39)	S427*	probably null	Het
Eps8	T	C	6: 137,456,126 (GRCm39)	D785G	probably benign	Het
Ereg	G	A	5: 91,222,659 (GRCm39)	C14Y	possibly damaging	Het
Fah	A	C	7: 84,244,706 (GRCm39)	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Golga1	A	G	2: 38,925,271 (GRCm39)	V351A	probably benign	Het
Got1	A	T	19: 43,492,946 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,724,976 (GRCm39)	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,016,094 (GRCm39)	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,317,766 (GRCm39)	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,066,960 (GRCm39)	C535*	probably null	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Itgb8	T	A	12: 119,154,290 (GRCm39)	N249I	probably damaging	Het
Itprid1	A	G	6: 55,874,992 (GRCm39)	E314G	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
Kng2	A	T	16: 22,830,931 (GRCm39)		probably benign	Het
Marchf4	A	T	1: 72,573,940 (GRCm39)	D119E	probably benign	Het
Mrpl34	T	C	8: 71,917,719 (GRCm39)		probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,400,856 (GRCm39)	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,584,228 (GRCm39)	V6A	possibly damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or4c29	C	A	2: 88,740,219 (GRCm39)	D173Y	possibly damaging	Het
Or4k52	A	G	2: 111,610,680 (GRCm39)	N5S	probably damaging	Het
Or5k14	A	T	16: 58,693,229 (GRCm39)	Y95N	probably benign	Het
Or7g33	C	A	9: 19,448,408 (GRCm39)	V273L	probably benign	Het
Oscar	C	T	7: 3,614,573 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,610,624 (GRCm39)	S1046G	probably benign	Het
Ptk6	T	C	2: 180,844,284 (GRCm39)	D5G	probably benign	Het
Rgs12	A	G	5: 35,187,424 (GRCm39)	H486R	probably benign	Het
Rnf111	C	T	9: 70,361,113 (GRCm39)		probably benign	Het
Rnf17	A	G	14: 56,676,066 (GRCm39)	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,178 (GRCm39)	I387N	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sez6l	T	C	5: 112,623,432 (GRCm39)	M40V	probably benign	Het
Slc17a5	A	G	9: 78,448,206 (GRCm39)	I416T	probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata32	C	T	11: 103,099,921 (GRCm39)	A195T	probably damaging	Het
Srrd	A	G	5: 112,485,394 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,067 (GRCm39)		probably benign	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Taok3	G	A	5: 117,390,744 (GRCm39)		probably benign	Het
Tbxas1	G	T	6: 39,004,702 (GRCm39)	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,114,752 (GRCm39)	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,520,107 (GRCm39)	T260A	possibly damaging	Het
Top2a	T	C	11: 98,900,922 (GRCm39)	I556V	probably benign	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Xpo4	G	T	14: 57,867,697 (GRCm39)	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,230,947 (GRCm39)	I81L	probably benign	Het
Zfp455	A	T	13: 67,355,899 (GRCm39)	Y389F	probably damaging	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
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
R9313:Fdps	UTSW	3	89,006,655 (GRCm39)	missense	probably benign	0.00
X0060:Fdps	UTSW	3	89,001,621 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- GGTCTCAAGGAATGCTTTTGCCAAC -3'
(R):5'- TGCCAGTGTCTGGAGTGAATGAATG -3'

Sequencing Primer
(F):5'- CCTGCATTCTGGATAAAGCTG -3'
(R):5'- CTGGAGTGAATGAATGAGTTGTGAG -3'

Posted On

2013-05-09