Incidental Mutation 'IGL02654:Gtpbp10'
| ID |
302290 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtpbp10
|
| Ensembl Gene |
ENSMUSG00000040464 |
| Gene Name |
GTP-binding protein 10 (putative) |
| Synonyms |
4930545J22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
5587454-5609538 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to C
at 5593372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088842]
[ENSMUST00000115441]
[ENSMUST00000119521]
[ENSMUST00000147244]
|
| AlphaFold |
Q8K013 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088842
|
| SMART Domains |
Protein: ENSMUSP00000086225
Gene: ENSMUSG00000040464
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
Pfam:FeoB_N
|
75 |
163 |
3e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
77 |
200 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115441
|
| SMART Domains |
Protein: ENSMUSP00000111101
Gene: ENSMUSG00000040464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP1_OBG
|
15 |
142 |
1.3e-18 |
PFAM |
|
Pfam:FeoB_N
|
149 |
241 |
1.4e-8 |
PFAM |
|
Pfam:MMR_HSR1
|
150 |
279 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119521
|
| SMART Domains |
Protein: ENSMUSP00000113648
Gene: ENSMUSG00000040464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP1_OBG
|
15 |
118 |
6.7e-14 |
PFAM |
|
Pfam:MMR_HSR1
|
95 |
206 |
2.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126855
|
| SMART Domains |
Protein: ENSMUSP00000118395
Gene: ENSMUSG00000040464
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127670
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128887
|
| SMART Domains |
Protein: ENSMUSP00000121101
Gene: ENSMUSG00000040464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP1_OBG
|
1 |
85 |
2.7e-11 |
PFAM |
|
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147244
|
| SMART Domains |
Protein: ENSMUSP00000119250
Gene: ENSMUSG00000040464
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152984
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,977,826 (GRCm39) |
I468T |
possibly damaging |
Het |
| Actmap |
A |
G |
7: 26,903,298 (GRCm39) |
E289G |
probably damaging |
Het |
| Anxa13 |
A |
G |
15: 58,205,397 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef33 |
A |
G |
17: 80,677,740 (GRCm39) |
Y429C |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,275,433 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,817,473 (GRCm39) |
|
probably benign |
Het |
| Dld |
G |
T |
12: 31,383,916 (GRCm39) |
H396N |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,319 (GRCm39) |
V942A |
probably damaging |
Het |
| Eln |
A |
T |
5: 134,745,908 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,908,271 (GRCm39) |
T2577M |
possibly damaging |
Het |
| Gad1 |
A |
T |
2: 70,403,125 (GRCm39) |
K73M |
possibly damaging |
Het |
| Gipc1 |
T |
C |
8: 84,389,780 (GRCm39) |
V253A |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,766,049 (GRCm39) |
T62S |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,161 (GRCm39) |
S1134P |
probably damaging |
Het |
| Hnrnpc |
A |
G |
14: 52,321,574 (GRCm39) |
L80S |
probably damaging |
Het |
| Kif20a |
G |
A |
18: 34,765,076 (GRCm39) |
R770H |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,401 (GRCm39) |
T374A |
possibly damaging |
Het |
| Mlana |
A |
G |
19: 29,682,018 (GRCm39) |
|
probably null |
Het |
| Nhsl3 |
C |
T |
4: 129,116,112 (GRCm39) |
G851R |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,100,716 (GRCm39) |
I169V |
possibly damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,555 (GRCm39) |
Y195* |
probably null |
Het |
| P3h3 |
A |
G |
6: 124,822,228 (GRCm39) |
V585A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,614 (GRCm39) |
M468K |
probably benign |
Het |
| Prl8a2 |
T |
G |
13: 27,536,780 (GRCm39) |
I134S |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,738,730 (GRCm39) |
V2828A |
probably damaging |
Het |
| Rhbdd1 |
G |
T |
1: 82,320,504 (GRCm39) |
V163F |
probably benign |
Het |
| Rrp1 |
A |
G |
10: 78,248,773 (GRCm39) |
V5A |
probably benign |
Het |
| Sephs1 |
A |
T |
2: 4,889,366 (GRCm39) |
N48I |
probably benign |
Het |
| Speer4a3 |
T |
A |
5: 26,158,205 (GRCm39) |
H49L |
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,242 (GRCm39) |
Y149H |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,578,324 (GRCm39) |
D396G |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,015 (GRCm39) |
S2419G |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,618,606 (GRCm39) |
T35A |
possibly damaging |
Het |
| Zmym2 |
T |
A |
14: 57,148,772 (GRCm39) |
F362Y |
probably damaging |
Het |
|
| Other mutations in Gtpbp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Gtpbp10
|
APN |
5 |
5,596,372 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03170:Gtpbp10
|
APN |
5 |
5,605,355 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0421:Gtpbp10
|
UTSW |
5 |
5,607,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4582:Gtpbp10
|
UTSW |
5 |
5,592,395 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4832:Gtpbp10
|
UTSW |
5 |
5,589,295 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6437:Gtpbp10
|
UTSW |
5 |
5,607,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Gtpbp10
|
UTSW |
5 |
5,605,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Gtpbp10
|
UTSW |
5 |
5,596,365 (GRCm39) |
missense |
probably benign |
|
|
R7349:Gtpbp10
|
UTSW |
5 |
5,605,379 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9500:Gtpbp10
|
UTSW |
5 |
5,606,120 (GRCm39) |
nonsense |
probably null |
|
|
R9570:Gtpbp10
|
UTSW |
5 |
5,596,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Gtpbp10
|
UTSW |
5 |
5,607,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation