Incidental Mutation 'IGL03170:Gtpbp10'
| ID |
411806 |
| 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 # |
IGL03170
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
5587454-5609538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5605355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 116
(V116A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088842]
[ENSMUST00000115441]
[ENSMUST00000119521]
[ENSMUST00000147244]
[ENSMUST00000198799]
|
| 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
AA Change: V116A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000111101
Gene: ENSMUSG00000040464
AA Change: V116A
| 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 |
unknown
Transcript: ENSMUST00000128887
AA Change: V58A
|
| SMART Domains |
Protein: ENSMUSP00000121101
Gene: ENSMUSG00000040464
AA Change: V58A
| 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: ENSMUST00000152984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198799
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,774,861 (GRCm39) |
D1023G |
probably damaging |
Het |
| Ccn1 |
C |
A |
3: 145,355,514 (GRCm39) |
A12S |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,060,809 (GRCm39) |
|
probably null |
Het |
| Cyp4f37 |
C |
T |
17: 32,844,093 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
T |
C |
2: 25,289,493 (GRCm39) |
F325S |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,818,261 (GRCm38) |
I37T |
possibly damaging |
Het |
| H2-T9 |
C |
T |
17: 36,439,605 (GRCm39) |
G125E |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,587,456 (GRCm39) |
N164I |
unknown |
Het |
| Nle1 |
T |
A |
11: 82,795,096 (GRCm39) |
T312S |
probably benign |
Het |
| Or10ab5 |
T |
C |
7: 108,245,307 (GRCm39) |
I159V |
probably benign |
Het |
| Pim1 |
T |
A |
17: 29,710,152 (GRCm39) |
L12Q |
possibly damaging |
Het |
| Plb1 |
G |
T |
5: 32,442,246 (GRCm39) |
C246F |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,557,033 (GRCm39) |
|
probably benign |
Het |
| Prl6a1 |
T |
A |
13: 27,499,406 (GRCm39) |
V63D |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 22,959,766 (GRCm39) |
A88T |
probably benign |
Het |
| Ranbp3l |
A |
T |
15: 9,029,611 (GRCm39) |
E31V |
probably damaging |
Het |
| Relch |
C |
T |
1: 105,663,680 (GRCm39) |
T943I |
probably damaging |
Het |
| Rgs9 |
G |
A |
11: 109,150,681 (GRCm39) |
T209I |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,977,434 (GRCm39) |
V49A |
probably damaging |
Het |
| Smim6 |
A |
T |
11: 115,804,314 (GRCm39) |
T34S |
possibly damaging |
Het |
| Snw1 |
T |
G |
12: 87,519,022 (GRCm39) |
T4P |
probably benign |
Het |
| Sod2 |
C |
A |
17: 13,227,257 (GRCm39) |
H70Q |
probably benign |
Het |
| Tro |
A |
G |
X: 149,438,556 (GRCm39) |
S34P |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
| Uggt1 |
A |
C |
1: 36,202,342 (GRCm39) |
V1085G |
probably damaging |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,847 (GRCm39) |
V199A |
probably damaging |
Het |
| Xkr9 |
T |
C |
1: 13,771,036 (GRCm39) |
I184T |
possibly damaging |
Het |
| Zfp369 |
T |
C |
13: 65,442,224 (GRCm39) |
S273P |
probably damaging |
Het |
| Zpld2 |
C |
T |
4: 133,920,345 (GRCm39) |
V607I |
possibly 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 |
|
IGL02654:Gtpbp10
|
APN |
5 |
5,593,372 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation