Incidental Mutation 'R6812:Fdps'
ID |
533833 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fdps
|
Ensembl Gene |
ENSMUSG00000059743 |
Gene Name |
farnesyl diphosphate synthetase |
Synonyms |
6030492I17Rik, Fdpsl1 |
MMRRC Submission |
044924-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R6812 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
89000895-89009266 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 89001783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 301
(E301D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052539]
[ENSMUST00000081848]
[ENSMUST00000090929]
[ENSMUST00000166687]
[ENSMUST00000196043]
[ENSMUST00000196223]
[ENSMUST00000196254]
[ENSMUST00000196709]
[ENSMUST00000196921]
[ENSMUST00000199668]
[ENSMUST00000200659]
|
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: E234D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000080531 Gene: ENSMUSG00000059743 AA Change: E234D
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 |
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 |
probably benign
Transcript: ENSMUST00000196254
AA Change: E156D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000142669 Gene: ENSMUSG00000059743 AA Change: E156D
Domain | Start | End | E-Value | Type |
Pfam:polyprenyl_synt
|
1 |
238 |
3.6e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196709
AA Change: E234D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000142770 Gene: ENSMUSG00000059743 AA Change: E234D
Domain | Start | End | E-Value | Type |
Pfam:polyprenyl_synt
|
44 |
316 |
8.7e-84 |
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 |
|
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 |
possibly damaging
Transcript: ENSMUST00000200659
AA Change: E301D
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142694 Gene: ENSMUSG00000105204 AA Change: E301D
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 |
0.0885 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
Validation Efficiency |
100% (56/56) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
C |
T |
16: 56,616,161 (GRCm39) |
|
probably benign |
Het |
Ak9 |
A |
T |
10: 41,243,163 (GRCm39) |
M686L |
unknown |
Het |
Ap3b1 |
A |
T |
13: 94,616,369 (GRCm39) |
T757S |
unknown |
Het |
Apob |
A |
T |
12: 8,033,062 (GRCm39) |
K139N |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,094,037 (GRCm39) |
E270G |
possibly damaging |
Het |
Atp1a2 |
A |
T |
1: 172,112,444 (GRCm39) |
C515S |
probably benign |
Het |
Bicd1 |
T |
C |
6: 149,311,035 (GRCm39) |
Y37H |
probably damaging |
Het |
Birc2 |
T |
G |
9: 7,854,418 (GRCm39) |
D424A |
probably damaging |
Het |
Ccdc97 |
A |
T |
7: 25,412,469 (GRCm39) |
F324L |
probably damaging |
Het |
Crim1 |
T |
A |
17: 78,623,029 (GRCm39) |
I409N |
probably damaging |
Het |
Cul7 |
T |
A |
17: 46,972,335 (GRCm39) |
I1233N |
probably benign |
Het |
Dcaf1 |
T |
C |
9: 106,735,268 (GRCm39) |
S739P |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,599,863 (GRCm39) |
|
probably null |
Het |
Dennd5b |
T |
C |
6: 148,982,630 (GRCm39) |
|
probably benign |
Het |
Dna2 |
A |
G |
10: 62,795,120 (GRCm39) |
S464G |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,872,155 (GRCm39) |
V2692M |
probably damaging |
Het |
Dvl2 |
T |
C |
11: 69,891,821 (GRCm39) |
Y55H |
probably damaging |
Het |
Eif4g3 |
G |
T |
4: 137,830,687 (GRCm39) |
Q140H |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,467 (GRCm39) |
V460M |
probably benign |
Het |
Etv2 |
G |
T |
7: 30,333,426 (GRCm39) |
C265* |
probably null |
Het |
F12 |
T |
C |
13: 55,569,658 (GRCm39) |
E146G |
probably damaging |
Het |
Fsd2 |
G |
T |
7: 81,184,837 (GRCm39) |
H686Q |
probably benign |
Het |
Gk5 |
T |
C |
9: 96,032,802 (GRCm39) |
S262P |
probably damaging |
Het |
Gm20730 |
A |
G |
6: 43,058,722 (GRCm39) |
V30A |
probably benign |
Het |
Gpr68 |
C |
A |
12: 100,844,670 (GRCm39) |
E291D |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,674,993 (GRCm39) |
V1006A |
probably benign |
Het |
Itgb1 |
T |
A |
8: 129,431,891 (GRCm39) |
|
probably null |
Het |
Kif2a |
A |
T |
13: 107,106,259 (GRCm39) |
D570E |
probably benign |
Het |
Krt8 |
G |
T |
15: 101,906,414 (GRCm39) |
A365D |
probably damaging |
Het |
Lias |
T |
A |
5: 65,566,132 (GRCm39) |
V373E |
possibly damaging |
Het |
Mpl |
A |
G |
4: 118,312,461 (GRCm39) |
V169A |
probably benign |
Het |
Myh3 |
T |
A |
11: 66,977,228 (GRCm39) |
I319N |
probably damaging |
Het |
Myrfl |
T |
A |
10: 116,668,818 (GRCm39) |
K315I |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,340,108 (GRCm39) |
D803G |
probably damaging |
Het |
Obi1 |
A |
G |
14: 104,747,868 (GRCm39) |
V40A |
unknown |
Het |
Or5b119 |
T |
C |
19: 13,456,975 (GRCm39) |
T196A |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,178,701 (GRCm39) |
S536P |
possibly damaging |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Prkaa2 |
T |
A |
4: 104,904,349 (GRCm39) |
T243S |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,103,153 (GRCm39) |
V877D |
probably benign |
Het |
Rbm27 |
T |
A |
18: 42,466,468 (GRCm39) |
|
probably null |
Het |
Rbm48 |
A |
G |
5: 3,646,105 (GRCm39) |
V33A |
probably benign |
Het |
Rev3l |
G |
T |
10: 39,699,544 (GRCm39) |
R1347L |
probably benign |
Het |
Rtp3 |
A |
G |
9: 110,816,180 (GRCm39) |
F124L |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,777,251 (GRCm39) |
G302D |
probably damaging |
Het |
Scnn1a |
A |
G |
6: 125,314,819 (GRCm39) |
N314S |
probably benign |
Het |
Sik3 |
C |
T |
9: 46,122,067 (GRCm39) |
R907W |
probably damaging |
Het |
Sox5 |
C |
T |
6: 144,062,169 (GRCm39) |
|
probably null |
Het |
Tmc1 |
A |
C |
19: 20,878,225 (GRCm39) |
L90R |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,249,130 (GRCm39) |
V201A |
probably benign |
Het |
Uvrag |
T |
A |
7: 98,537,689 (GRCm39) |
H502L |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,434,859 (GRCm39) |
I1760N |
probably damaging |
Het |
Zfp318 |
G |
GAAGAAT |
17: 46,723,468 (GRCm39) |
|
probably benign |
Het |
Zfp772 |
T |
C |
7: 7,209,307 (GRCm39) |
D61G |
possibly 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 |
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 |
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'- GATGTCAGTGCCGACCTTTC -3'
(R):5'- TCTGATACTGGAAAGTGGGCAG -3'
Sequencing Primer
(F):5'- TTTCCCGTCACACTGGGG -3'
(R):5'- GGCAGAGTTGAGGCCTG -3'
|
Posted On |
2018-09-12 |