Mutagenetix > Incidental Mutation

Incidental Mutation 'R6800:Fdps'

533256

Institutional Source

Beutler Lab

Gene Symbol

Fdps

Ensembl Gene

ENSMUSG00000059743

Gene Name

farnesyl diphosphate synthetase

Synonyms

6030492I17Rik, Fdpsl1

MMRRC Submission

044913-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6800 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

89000895-89009266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89008068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 17 (F17V)

Ref Sequence

ENSEMBL: ENSMUSP00000142393 (fasta)

Gene Model

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

AlphaFold

Q920E5

Predicted Effect

probably damaging
Transcript: ENSMUST00000081848
AA Change: F17V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743
AA Change: F17V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196709
AA Change: F17V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743
AA Change: F17V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196921
AA Change: F84V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142704
Gene: ENSMUSG00000059743
AA Change: F84V

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 damaging
Transcript: ENSMUST00000199668
AA Change: F17V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743
AA Change: F17V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200659
AA Change: F84V

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: F84V

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

Meta Mutation Damage Score

0.7714

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 60,992,948 (GRCm39)	P244S	probably damaging	Het
9130023H24Rik	C	A	7: 127,836,742 (GRCm39)		probably benign	Het
Acoxl	A	T	2: 127,852,085 (GRCm39)	Q129L	probably damaging	Het
Akna	T	C	4: 63,316,268 (GRCm39)	T32A	probably benign	Het
Alox15	C	T	11: 70,235,645 (GRCm39)		probably null	Het
Antxrl	T	C	14: 33,787,864 (GRCm39)	S296P	probably damaging	Het
Arrb2	G	T	11: 70,328,142 (GRCm39)	G52*	probably null	Het
Bltp2	T	C	11: 78,179,105 (GRCm39)	F2091S	probably benign	Het
Capn2	A	T	1: 182,309,045 (GRCm39)	I499N	probably damaging	Het
Cfhr4	T	A	1: 139,629,719 (GRCm39)	D683V	possibly damaging	Het
Cspg4b	T	A	13: 113,504,686 (GRCm39)	D396E	probably benign	Het
Cubn	T	A	2: 13,326,066 (GRCm39)	I2700F	probably damaging	Het
Cypt4	A	T	9: 24,536,965 (GRCm39)	N152Y	probably benign	Het
Dmxl2	T	C	9: 54,316,467 (GRCm39)	N1640D	probably damaging	Het
Dnah7b	A	T	1: 46,379,377 (GRCm39)	N3704Y	possibly damaging	Het
Dnah9	A	G	11: 65,963,565 (GRCm39)		probably null	Het
Elac2	G	A	11: 64,890,265 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,433,029 (GRCm39)		probably null	Het
Espnl	T	C	1: 91,270,351 (GRCm39)	V386A	probably damaging	Het
Fbxl6	T	A	15: 76,422,898 (GRCm39)		probably benign	Het
Gigyf2	T	C	1: 87,346,898 (GRCm39)	I576T	possibly damaging	Het
Gm20939	A	G	17: 95,184,657 (GRCm39)	E435G	possibly damaging	Het
Hivep1	G	A	13: 42,310,852 (GRCm39)	V1031I	probably damaging	Het
Hydin	T	G	8: 111,324,603 (GRCm39)	S4655A	probably benign	Het
Ifrd1	T	A	12: 40,273,157 (GRCm39)		probably benign	Het
Iqgap1	G	T	7: 80,378,729 (GRCm39)	T1219K	possibly damaging	Het
Lmtk3	G	A	7: 45,443,233 (GRCm39)	E639K	possibly damaging	Het
Map3k5	A	G	10: 20,017,326 (GRCm39)	*1373W	probably null	Het
Mia2	G	A	12: 59,235,332 (GRCm39)		probably null	Het
Micu2	T	C	14: 58,156,896 (GRCm39)	D313G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,371 (GRCm39)	S77P	probably damaging	Het
Mrpl51	T	C	6: 125,169,367 (GRCm39)	V17A	probably benign	Het
Neurod4	A	T	10: 130,106,661 (GRCm39)	Y204*	probably null	Het
Or2n1	A	G	17: 38,486,013 (GRCm39)	I13V	probably benign	Het
Or56a42-ps1	A	T	7: 104,776,217 (GRCm39)	V97E	probably benign	Het
Or5p67	G	A	7: 107,922,460 (GRCm39)	T141I	probably benign	Het
Or6c66b	A	T	10: 129,377,132 (GRCm39)	H242L	probably damaging	Het
Pate2	T	C	9: 35,596,941 (GRCm39)		probably benign	Het
Pcdhgb8	G	A	18: 37,896,580 (GRCm39)	R550Q	probably benign	Het
Phldb3	T	C	7: 24,323,577 (GRCm39)	L437P	possibly damaging	Het
Pianp	C	A	6: 124,978,565 (GRCm39)	P257T	possibly damaging	Het
Rbbp6	T	A	7: 122,584,287 (GRCm39)	H140Q	possibly damaging	Het
Rfx2	A	G	17: 57,087,804 (GRCm39)	I529T	probably damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Rp1l1	T	C	14: 64,268,599 (GRCm39)	I1395T	possibly damaging	Het
Rps6ka2	A	C	17: 7,519,035 (GRCm39)	K186Q	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtel1	C	A	2: 180,964,256 (GRCm39)	T85N	probably benign	Het
Rtn4rl2	T	C	2: 84,710,967 (GRCm39)	N99S	probably damaging	Het
Ryr1	C	T	7: 28,723,741 (GRCm39)	G4106D	possibly damaging	Het
Scgb2b24	A	G	7: 33,437,894 (GRCm39)	V71A	probably benign	Het
Sgip1	A	G	4: 102,778,225 (GRCm39)		probably benign	Het
Slc12a4	G	A	8: 106,676,371 (GRCm39)	T515I	probably damaging	Het
Spag1	C	T	15: 36,197,895 (GRCm39)	R286*	probably null	Het
Strbp	C	T	2: 37,515,228 (GRCm39)	R266Q	probably damaging	Het
Strn	G	T	17: 78,977,787 (GRCm39)		probably benign	Het
Thnsl2	C	A	6: 71,118,264 (GRCm39)	V55L	probably benign	Het
Tmem178b	A	T	6: 40,231,858 (GRCm39)	Q164L	unknown	Het
Tmprss6	C	T	15: 78,324,457 (GRCm39)	R786H	probably damaging	Het
Ttc21a	T	A	9: 119,770,268 (GRCm39)	L113Q	possibly damaging	Het
Ttc21b	T	C	2: 66,038,994 (GRCm39)		probably null	Het
Vmn2r51	T	C	7: 9,832,191 (GRCm39)	D465G	probably damaging	Het
Vmp1	A	C	11: 86,556,913 (GRCm39)		probably null	Het
Wdcp	T	C	12: 4,901,358 (GRCm39)	F405L	probably damaging	Het
Zfhx3	A	T	8: 109,676,149 (GRCm39)	T2400S	probably benign	Het
Zfp27	T	C	7: 29,593,860 (GRCm39)	T702A	probably benign	Het
Zfp87	T	C	13: 74,520,080 (GRCm39)	S333G	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
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'- GGTAGTCACTTCGCTCTTATCG -3'
(R):5'- GCTTGGTTTCCTACAACGACC -3'

Sequencing Primer
(F):5'- GTAGTCACTTCGCTCTTATCGAAACC -3'
(R):5'- CTCCCTGGCATATGGGTGTC -3'

Posted On

2018-09-12