Incidental Mutation 'IGL01794:Gtpbp1'
ID |
155294 |
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 # |
IGL01794
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
79575046-79605680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79600447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 460
(T460I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046463]
[ENSMUST00000230262]
[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 damaging
Transcript: ENSMUST00000046463
AA Change: T460I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043575 Gene: ENSMUSG00000042535 AA Change: T460I
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 |
unknown
Transcript: ENSMUST00000228991
AA Change: T5I
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230023
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230262
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230496
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
Appl2 |
A |
G |
10: 83,450,158 (GRCm39) |
V238A |
probably benign |
Het |
Bcl2l11 |
T |
A |
2: 127,970,568 (GRCm39) |
S6T |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,944,047 (GRCm39) |
|
probably null |
Het |
Catsper3 |
T |
C |
13: 55,946,719 (GRCm39) |
S139P |
possibly damaging |
Het |
Cdh3 |
A |
G |
8: 107,263,758 (GRCm39) |
N192S |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,243,240 (GRCm39) |
I71N |
probably damaging |
Het |
Fbxw2 |
A |
G |
2: 34,701,131 (GRCm39) |
|
probably benign |
Het |
Gad1 |
G |
T |
2: 70,427,512 (GRCm39) |
V473L |
probably benign |
Het |
Golm2 |
T |
A |
2: 121,742,407 (GRCm39) |
N206K |
probably benign |
Het |
Krt16 |
G |
A |
11: 100,138,731 (GRCm39) |
T185I |
probably benign |
Het |
Mapk1ip1 |
C |
T |
7: 138,438,426 (GRCm39) |
M1I |
probably null |
Het |
Nt5e |
A |
T |
9: 88,249,351 (GRCm39) |
L428F |
probably damaging |
Het |
Or5p54 |
A |
G |
7: 107,554,502 (GRCm39) |
Y218C |
probably damaging |
Het |
Pah |
G |
T |
10: 87,414,784 (GRCm39) |
V379F |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,505,853 (GRCm39) |
T1679A |
probably benign |
Het |
Sdccag8 |
T |
A |
1: 176,672,873 (GRCm39) |
H293Q |
possibly damaging |
Het |
Spmip4 |
T |
C |
6: 50,554,826 (GRCm39) |
I268M |
probably damaging |
Het |
Suco |
A |
G |
1: 161,655,294 (GRCm39) |
M1066T |
probably benign |
Het |
Trim9 |
A |
G |
12: 70,328,654 (GRCm39) |
Y369H |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
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 |
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 |
2014-02-04 |