Incidental Mutation 'IGL02532:Gtpbp1'
| ID |
297365 |
| 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 # |
IGL02532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79575046-79605680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79604278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 662
(V662E)
|
| 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 |
probably benign
Transcript: ENSMUST00000046463
AA Change: V662E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: V662E
| 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: V194E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231189
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230023
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
| Arhgap11a |
G |
T |
2: 113,664,021 (GRCm39) |
S754* |
probably null |
Het |
| Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
| Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
| Cd177 |
T |
C |
7: 24,444,674 (GRCm39) |
K636E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
| Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
| Fgd3 |
G |
A |
13: 49,439,237 (GRCm39) |
A253V |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
| Fubp3 |
T |
C |
2: 31,490,571 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
| Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
| Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
| Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,195 (GRCm39) |
L262Q |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,171 (GRCm39) |
K270E |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
| Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
A |
G |
6: 71,486,809 (GRCm39) |
D480G |
probably benign |
Het |
| Rnf103 |
T |
G |
6: 71,486,636 (GRCm39) |
S422R |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,523,365 (GRCm39) |
V213A |
probably damaging |
Het |
| Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
| Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
| Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
| Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
| Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
Het |
|
| Other mutations in Gtpbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Gtpbp1
|
APN |
15 |
79,603,337 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation