Incidental Mutation 'IGL01859:Gtpbp1'
ID |
178254 |
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 # |
IGL01859
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
79575046-79605680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79603341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 610
(V610E)
|
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: V610E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043575 Gene: ENSMUSG00000042535 AA Change: V610E
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: V142E
|
Predicted Effect |
unknown
Transcript: ENSMUST00000229583
AA Change: V135E
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230023
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231095
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
A |
G |
9: 103,963,336 (GRCm39) |
|
probably benign |
Het |
Ak7 |
A |
G |
12: 105,711,556 (GRCm39) |
M398V |
probably null |
Het |
Angptl3 |
C |
T |
4: 98,925,669 (GRCm39) |
R332* |
probably null |
Het |
Ano7 |
A |
G |
1: 93,322,168 (GRCm39) |
Y392C |
probably damaging |
Het |
Arpc1b |
T |
C |
5: 145,060,540 (GRCm39) |
F18L |
probably damaging |
Het |
Cdc23 |
G |
T |
18: 34,784,459 (GRCm39) |
P73Q |
probably benign |
Het |
Cdkl1 |
A |
C |
12: 69,806,903 (GRCm39) |
L111R |
probably damaging |
Het |
Cntnap2 |
A |
G |
6: 46,965,655 (GRCm39) |
D822G |
probably damaging |
Het |
Col6a5 |
G |
A |
9: 105,808,160 (GRCm39) |
R963* |
probably null |
Het |
Crocc |
T |
C |
4: 140,756,601 (GRCm39) |
D1008G |
probably benign |
Het |
Dntt |
G |
T |
19: 41,025,743 (GRCm39) |
M120I |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,678,890 (GRCm39) |
Y1003C |
possibly damaging |
Het |
Fam178b |
T |
A |
1: 36,698,446 (GRCm39) |
R92W |
probably damaging |
Het |
Fermt2 |
A |
G |
14: 45,697,413 (GRCm39) |
V646A |
possibly damaging |
Het |
Foxc1 |
T |
C |
13: 31,992,706 (GRCm39) |
S506P |
unknown |
Het |
H2-T15 |
A |
T |
17: 36,368,903 (GRCm39) |
M59K |
possibly damaging |
Het |
Hsdl2 |
T |
C |
4: 59,601,569 (GRCm39) |
|
probably null |
Het |
Itgb8 |
T |
A |
12: 119,153,680 (GRCm39) |
R278S |
probably damaging |
Het |
Kcnh7 |
T |
A |
2: 62,552,132 (GRCm39) |
D953V |
probably benign |
Het |
Med13 |
A |
T |
11: 86,174,577 (GRCm39) |
D1749E |
possibly damaging |
Het |
Mocos |
G |
T |
18: 24,799,717 (GRCm39) |
|
probably benign |
Het |
Pcdhb20 |
T |
G |
18: 37,637,616 (GRCm39) |
N47K |
probably damaging |
Het |
Phf21a |
T |
A |
2: 92,158,701 (GRCm39) |
F227L |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,225,915 (GRCm39) |
E907G |
probably benign |
Het |
Pla2g4e |
G |
T |
2: 120,013,214 (GRCm39) |
Q369K |
possibly damaging |
Het |
Ppp3cb |
A |
G |
14: 20,559,517 (GRCm39) |
I413T |
probably damaging |
Het |
Ptgis |
A |
G |
2: 167,056,726 (GRCm39) |
|
probably null |
Het |
Rasgrp1 |
A |
G |
2: 117,119,899 (GRCm39) |
V452A |
probably benign |
Het |
Rbms3 |
T |
A |
9: 116,788,606 (GRCm39) |
D105V |
probably damaging |
Het |
Rnase1 |
C |
A |
14: 51,383,260 (GRCm39) |
Q31H |
probably benign |
Het |
Rnase13 |
G |
T |
14: 52,159,760 (GRCm39) |
N126K |
probably damaging |
Het |
Sema5b |
G |
T |
16: 35,467,479 (GRCm39) |
V248L |
possibly damaging |
Het |
Serpinb12 |
G |
A |
1: 106,881,564 (GRCm39) |
|
probably null |
Het |
Slc4a11 |
A |
T |
2: 130,526,914 (GRCm39) |
L738Q |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,001,938 (GRCm39) |
I23F |
probably damaging |
Het |
Stk-ps2 |
A |
T |
1: 46,069,202 (GRCm39) |
|
noncoding transcript |
Het |
Tcp1 |
A |
G |
17: 13,141,571 (GRCm39) |
E350G |
possibly damaging |
Het |
Tonsl |
T |
C |
15: 76,518,980 (GRCm39) |
K518E |
probably damaging |
Het |
Trim34a |
A |
G |
7: 103,910,149 (GRCm39) |
E317G |
probably damaging |
Het |
Trit1 |
A |
G |
4: 122,943,344 (GRCm39) |
S335G |
probably benign |
Het |
Usp28 |
G |
T |
9: 48,935,321 (GRCm39) |
E91* |
probably null |
Het |
Vmn2r56 |
A |
G |
7: 12,449,932 (GRCm39) |
L102P |
probably damaging |
Het |
Wwtr1 |
A |
C |
3: 57,384,938 (GRCm39) |
L203R |
possibly damaging |
Het |
Zfp110 |
T |
C |
7: 12,583,467 (GRCm39) |
V705A |
possibly damaging |
Het |
Zfp955a |
T |
C |
17: 33,462,693 (GRCm39) |
N67S |
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 |
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 |
2014-05-07 |