Incidental Mutation 'IGL01361:Fdps'
| ID |
75768 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fdps
|
| Ensembl Gene |
ENSMUSG00000059743 |
| Gene Name |
farnesyl diphosphate synthetase |
| Synonyms |
6030492I17Rik, Fdpsl1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL01361
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89000895-89009266 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 89001749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743
| 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 |
probably benign
Transcript: ENSMUST00000200659
|
| SMART Domains |
Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:polyprenyl_synt
|
44 |
316 |
8.7e-84 |
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 |
noncoding transcript
Transcript: ENSMUST00000200433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200357
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
T |
A |
11: 5,546,706 (GRCm39) |
|
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,960,768 (GRCm39) |
G157D |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,569,107 (GRCm39) |
E940G |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,149 (GRCm39) |
L561P |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,655,718 (GRCm39) |
Y27C |
probably damaging |
Het |
| Catsper1 |
G |
T |
19: 5,389,507 (GRCm39) |
S474I |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,304 (GRCm39) |
D897G |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,840,253 (GRCm39) |
L540P |
probably damaging |
Het |
| Gprc6a |
A |
G |
10: 51,491,526 (GRCm39) |
I741T |
probably damaging |
Het |
| Hdac7 |
A |
C |
15: 97,709,323 (GRCm39) |
M47R |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,996,092 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
C |
A |
2: 144,248,540 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,376,796 (GRCm39) |
V390A |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,375,977 (GRCm39) |
Y578N |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,000,763 (GRCm39) |
|
probably benign |
Het |
| Mpc2 |
G |
T |
1: 165,307,092 (GRCm39) |
A98S |
probably benign |
Het |
| Nek10 |
T |
C |
14: 14,850,957 (GRCm38) |
I334T |
probably damaging |
Het |
| Nufip2 |
T |
A |
11: 77,583,196 (GRCm39) |
V370E |
possibly damaging |
Het |
| Nup160 |
C |
A |
2: 90,514,356 (GRCm39) |
Y101* |
probably null |
Het |
| Obscn |
T |
A |
11: 58,919,715 (GRCm39) |
Y6174F |
probably damaging |
Het |
| Omp |
A |
T |
7: 97,794,489 (GRCm39) |
I46N |
probably benign |
Het |
| Pcbp4 |
A |
T |
9: 106,340,448 (GRCm39) |
|
probably null |
Het |
| Pctp |
A |
G |
11: 89,879,552 (GRCm39) |
V103A |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,309,814 (GRCm39) |
Y590H |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,343,508 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,124,019 (GRCm39) |
T2829M |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,989,563 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,048,112 (GRCm39) |
Y210N |
probably damaging |
Het |
| Slc33a1 |
C |
A |
3: 63,850,833 (GRCm39) |
C497F |
probably damaging |
Het |
| Srp9 |
G |
A |
1: 181,958,902 (GRCm39) |
C25Y |
probably damaging |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Tut7 |
A |
T |
13: 59,933,614 (GRCm39) |
I894K |
probably damaging |
Het |
| Usf3 |
C |
A |
16: 44,033,000 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,720,371 (GRCm39) |
A405T |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,412,604 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fdps |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation