Incidental Mutation 'IGL00430:Gtpbp1'
| ID |
4072 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtpbp1
|
| Ensembl Gene |
ENSMUSG00000042535 |
| Gene Name |
GTP binding protein 1 |
| Synonyms |
GTPBP1, GP-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79575046-79605680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 79603337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 609
(G609W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046259]
[ENSMUST00000046463]
[ENSMUST00000089311]
[ENSMUST00000100439]
[ENSMUST00000231095]
|
| AlphaFold |
O08582 |
| PDB Structure |
Murine Alloreactive ScFv TCR-Peptide-MHC Class I Molecule Complex [X-RAY DIFFRACTION]
Mhc Class I H-2Kb molecule complexed with pKB1 peptide [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046259
|
| SMART Domains |
Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
339 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
453 |
N/A |
INTRINSIC |
|
coiled coil region
|
491 |
519 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
595 |
729 |
1.3e-49 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046463
AA Change: G609W
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: G609W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
160 |
385 |
2.7e-24 |
PFAM |
|
low complexity region
|
402 |
420 |
N/A |
INTRINSIC |
|
SCOP:d1exma2
|
491 |
575 |
4e-19 |
SMART |
|
low complexity region
|
605 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
653 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089311
|
| SMART Domains |
Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
194 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
coiled coil region
|
386 |
421 |
N/A |
INTRINSIC |
|
coiled coil region
|
459 |
487 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
563 |
697 |
1.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100439
|
| SMART Domains |
Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
|
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
337 |
N/A |
INTRINSIC |
|
coiled coil region
|
416 |
451 |
N/A |
INTRINSIC |
|
coiled coil region
|
489 |
517 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
593 |
727 |
1.2e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162392
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228991
AA Change: G141W
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229583
AA Change: G134W
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231189
|
| 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 is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted null mutation were viable and fertile with no obvious morphological or behavioral defects. In addition, no defects in macrophage function were observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,772,641 (GRCm39) |
S17N |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Baz2b |
C |
A |
2: 59,743,139 (GRCm39) |
A1611S |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,344,586 (GRCm39) |
I475L |
probably benign |
Het |
| Cpsf4l |
C |
T |
11: 113,600,044 (GRCm39) |
|
probably benign |
Het |
| Crispld2 |
A |
T |
8: 120,760,299 (GRCm39) |
R408S |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,930,170 (GRCm39) |
M145K |
probably damaging |
Het |
| Dexi |
A |
T |
16: 10,360,309 (GRCm39) |
D82E |
probably benign |
Het |
| Epyc |
A |
T |
10: 97,517,009 (GRCm39) |
K282N |
probably benign |
Het |
| Ercc6l2 |
G |
T |
13: 64,006,133 (GRCm39) |
V588F |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,801,227 (GRCm39) |
V532I |
probably damaging |
Het |
| Grk1 |
C |
A |
8: 13,463,128 (GRCm39) |
Y383* |
probably null |
Het |
| Hadha |
C |
T |
5: 30,325,145 (GRCm39) |
V682M |
possibly damaging |
Het |
| Igdcc3 |
A |
C |
9: 65,089,301 (GRCm39) |
D499A |
probably damaging |
Het |
| Kcna10 |
T |
G |
3: 107,102,044 (GRCm39) |
V225G |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,480 (GRCm39) |
T75A |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,921,700 (GRCm39) |
E407G |
possibly damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,403,597 (GRCm39) |
K105N |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,516 (GRCm39) |
|
probably null |
Het |
| Pck2 |
C |
T |
14: 55,781,401 (GRCm39) |
A209V |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,713,461 (GRCm39) |
E1243G |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,829,203 (GRCm39) |
M25L |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,689,662 (GRCm39) |
Q117* |
probably null |
Het |
| Rbm14 |
A |
G |
19: 4,861,454 (GRCm39) |
V28A |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,147,275 (GRCm39) |
T38A |
probably benign |
Het |
| Rin1 |
A |
G |
19: 5,101,404 (GRCm39) |
N96S |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,865,773 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,047,377 (GRCm39) |
C404* |
probably null |
Het |
| St6galnac3 |
T |
C |
3: 153,215,040 (GRCm39) |
N38S |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,422,692 (GRCm38) |
S1376R |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,852,406 (GRCm39) |
I553V |
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,263,841 (GRCm39) |
L1063* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 126,995,742 (GRCm39) |
C269* |
probably null |
Het |
|
| Other mutations in Gtpbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Gtpbp1
|
APN |
15 |
79,600,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01794:Gtpbp1
|
APN |
15 |
79,600,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01859:Gtpbp1
|
APN |
15 |
79,603,341 (GRCm39) |
missense |
probably benign |
|
|
IGL02245:Gtpbp1
|
APN |
15 |
79,575,127 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02532:Gtpbp1
|
APN |
15 |
79,604,278 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02730:Gtpbp1
|
APN |
15 |
79,603,372 (GRCm39) |
missense |
probably benign |
|
|
IGL02796:Gtpbp1
|
UTSW |
15 |
79,601,186 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0525:Gtpbp1
|
UTSW |
15 |
79,597,648 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0531:Gtpbp1
|
UTSW |
15 |
79,604,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Gtpbp1
|
UTSW |
15 |
79,591,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0665:Gtpbp1
|
UTSW |
15 |
79,597,648 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0760:Gtpbp1
|
UTSW |
15 |
79,603,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0799:Gtpbp1
|
UTSW |
15 |
79,600,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Gtpbp1
|
UTSW |
15 |
79,597,649 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1458:Gtpbp1
|
UTSW |
15 |
79,591,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Gtpbp1
|
UTSW |
15 |
79,592,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Gtpbp1
|
UTSW |
15 |
79,592,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Gtpbp1
|
UTSW |
15 |
79,603,222 (GRCm39) |
splice site |
probably null |
|
|
R1567:Gtpbp1
|
UTSW |
15 |
79,596,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3028:Gtpbp1
|
UTSW |
15 |
79,600,080 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4431:Gtpbp1
|
UTSW |
15 |
79,600,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Gtpbp1
|
UTSW |
15 |
79,600,152 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4854:Gtpbp1
|
UTSW |
15 |
79,603,406 (GRCm39) |
missense |
probably benign |
|
|
R4925:Gtpbp1
|
UTSW |
15 |
79,600,169 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5023:Gtpbp1
|
UTSW |
15 |
79,603,422 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5052:Gtpbp1
|
UTSW |
15 |
79,600,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Gtpbp1
|
UTSW |
15 |
79,596,375 (GRCm39) |
splice site |
probably null |
|
|
R6009:Gtpbp1
|
UTSW |
15 |
79,596,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Gtpbp1
|
UTSW |
15 |
79,591,198 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7088:Gtpbp1
|
UTSW |
15 |
79,603,483 (GRCm39) |
missense |
|
|
|
R7343:Gtpbp1
|
UTSW |
15 |
79,575,243 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7383:Gtpbp1
|
UTSW |
15 |
79,600,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8747:Gtpbp1
|
UTSW |
15 |
79,603,482 (GRCm39) |
missense |
|
|
|
R8863:Gtpbp1
|
UTSW |
15 |
79,591,262 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8914:Gtpbp1
|
UTSW |
15 |
79,600,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Gtpbp1
|
UTSW |
15 |
79,601,929 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9150:Gtpbp1
|
UTSW |
15 |
79,592,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Gtpbp1
|
UTSW |
15 |
79,601,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation