|Institutional Source||Beutler Lab|
|Gene Name||GTP binding protein 1|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8962 (G1)|
|Chromosomal Location||79690845-79721479 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 79717728 bp (GRCm38)|
|Amino Acid Change||Leucine to Phenylalanine at position 557 (L557F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043575 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046463] [ENSMUST00000231095]|
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]
AA Change: L557F
PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: L557F
|Coding Region Coverage||
|Validation Efficiency||99% (86/87)|
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||
|Other mutations in Gtpbp1||
(F):5'- TAGGTCTCACATGTCCTGACC -3'
(R):5'- GGCTACCCCATAATACCTTGGTG -3'
(F):5'- GACCCTGGTTCTCTTGGCAG -3'
(R):5'- CCATAATACCTTGGTGATAGCCGG -3'