Incidental Mutation 'R5106:Fdps'
| ID |
392612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fdps
|
| Ensembl Gene |
ENSMUSG00000059743 |
| Gene Name |
farnesyl diphosphate synthetase |
| Synonyms |
6030492I17Rik, Fdpsl1 |
| MMRRC Submission |
042694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R5106 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89000895-89009266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89006710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 127
(R127L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081848]
[ENSMUST00000196254]
[ENSMUST00000196709]
[ENSMUST00000196921]
[ENSMUST00000199668]
[ENSMUST00000200659]
|
| AlphaFold |
Q920E5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081848
AA Change: R60L
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743
AA Change: R60L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:polyprenyl_synt
|
47 |
313 |
2e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000103960
|
| 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 |
possibly damaging
Transcript: ENSMUST00000196709
AA Change: R60L
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743
AA Change: R60L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:polyprenyl_synt
|
44 |
316 |
8.7e-84 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196921
AA Change: R127L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142704
Gene: ENSMUSG00000059743
AA Change: R127L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:polyprenyl_synt
|
111 |
226 |
7.9e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198239
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199668
AA Change: R60L
PolyPhen 2
Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743
AA Change: R60L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:polyprenyl_synt
|
44 |
121 |
3.2e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200659
AA Change: R127L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: R127L
| 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 |
noncoding transcript
Transcript: ENSMUST00000200433
|
| Meta Mutation Damage Score |
0.9734 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1qtnf2 |
G |
A |
11: 43,376,880 (GRCm39) |
R84Q |
possibly damaging |
Het |
| Carmil2 |
T |
A |
8: 106,420,638 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,416,005 (GRCm39) |
C107S |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,991,982 (GRCm39) |
M191V |
probably benign |
Het |
| Cope |
C |
A |
8: 70,763,097 (GRCm39) |
R213S |
possibly damaging |
Het |
| Ctcf |
T |
C |
8: 106,408,130 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
T |
C |
17: 49,783,489 (GRCm39) |
Y647C |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 92,091,894 (GRCm39) |
Y920H |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| G6pd2 |
C |
T |
5: 61,967,695 (GRCm39) |
T490I |
probably benign |
Het |
| Gm6401 |
A |
G |
14: 41,787,463 (GRCm39) |
M121T |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,947,329 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,002,073 (GRCm39) |
S310G |
possibly damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,031,983 (GRCm39) |
F500L |
probably damaging |
Het |
| Lgr4 |
A |
T |
2: 109,827,940 (GRCm39) |
H207L |
probably damaging |
Het |
| Llcfc1 |
A |
G |
6: 41,662,310 (GRCm39) |
M105V |
probably benign |
Het |
| Macroh2a1 |
A |
G |
13: 56,236,106 (GRCm39) |
V213A |
possibly damaging |
Het |
| Map2k3 |
A |
G |
11: 60,832,708 (GRCm39) |
K18E |
probably damaging |
Het |
| Mccc1 |
T |
A |
3: 36,026,713 (GRCm39) |
D528V |
probably benign |
Het |
| Nedd4l |
C |
T |
18: 65,326,376 (GRCm39) |
T568M |
probably damaging |
Het |
| Nr3c1 |
A |
C |
18: 39,619,654 (GRCm39) |
I211S |
possibly damaging |
Het |
| Nudt5 |
C |
T |
2: 5,859,640 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
T |
A |
7: 106,464,595 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5d46 |
T |
C |
2: 88,170,454 (GRCm39) |
Y182H |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,177 (GRCm39) |
S191T |
probably benign |
Het |
| Pcid2 |
A |
T |
8: 13,129,648 (GRCm39) |
F326I |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,237,278 (GRCm39) |
I1336N |
probably damaging |
Het |
| Pomk |
T |
C |
8: 26,476,404 (GRCm39) |
D50G |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,027 (GRCm39) |
T706A |
probably benign |
Het |
| Rad54l |
G |
A |
4: 115,956,961 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,572,459 (GRCm39) |
D36G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 174,904,416 (GRCm39) |
S166P |
possibly damaging |
Het |
| Rnf183 |
C |
G |
4: 62,346,465 (GRCm39) |
R111P |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,265,395 (GRCm39) |
D327V |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,951,411 (GRCm39) |
Y156C |
probably damaging |
Het |
| Slc25a54 |
G |
T |
3: 109,020,180 (GRCm39) |
C398F |
probably benign |
Het |
| Slc39a2 |
A |
G |
14: 52,132,988 (GRCm39) |
*310W |
probably null |
Het |
| Slit3 |
T |
C |
11: 35,503,194 (GRCm39) |
C464R |
probably damaging |
Het |
| Smu1 |
A |
T |
4: 40,743,104 (GRCm39) |
F345I |
possibly damaging |
Het |
| Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
| Stxbp3 |
T |
C |
3: 108,702,243 (GRCm39) |
Y521C |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,492,356 (GRCm39) |
S1061P |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,860,630 (GRCm39) |
S103P |
probably damaging |
Het |
| Tmem221 |
A |
G |
8: 72,008,522 (GRCm39) |
F173L |
probably benign |
Het |
| Trit1 |
T |
C |
4: 122,948,106 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,395 (GRCm39) |
|
probably null |
Het |
| Vmn2r38 |
C |
A |
7: 9,078,169 (GRCm39) |
V738L |
possibly damaging |
Het |
| Zfp160 |
T |
A |
17: 21,247,023 (GRCm39) |
H524Q |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,259 (GRCm39) |
K202* |
probably null |
Het |
| Zfp985 |
T |
A |
4: 147,668,612 (GRCm39) |
S493R |
probably damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,725,198 (GRCm39) |
|
probably benign |
Het |
| Zwilch |
A |
C |
9: 64,060,866 (GRCm39) |
F329V |
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 |
|
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 |
|
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'- TGTGACTACAGCACACAAGAG -3'
(R):5'- CAGCCCATAGGATGTTGGAGAG -3'
Sequencing Primer
(F):5'- CACAAGCAAGAAATAAGCTTAGTCTC -3'
(R):5'- CCCATAGGATGTTGGAGAGGGAATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation