Incidental Mutation 'IGL01794:Gtpbp1'
ID155294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtpbp1
Ensembl Gene ENSMUSG00000042535
Gene NameGTP binding protein 1
SynonymsGP-1, GTPBP1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01794
Quality Score
Status
Chromosome15
Chromosomal Location79690845-79721479 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79716246 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T C 6: 50,577,846 I268M probably damaging Het
4930590J08Rik C T 6: 91,918,112 R263* probably null Het
Appl2 A G 10: 83,614,294 V238A probably benign Het
Bcl2l11 T A 2: 128,128,648 S6T probably damaging Het
Bptf A G 11: 107,053,221 probably null Het
Casc4 T A 2: 121,911,926 N206K probably benign Het
Catsper3 T C 13: 55,798,906 S139P possibly damaging Het
Cdh3 A G 8: 106,537,126 N192S possibly damaging Het
Dsc1 A T 18: 20,110,183 I71N probably damaging Het
Fbxw2 A G 2: 34,811,119 probably benign Het
Gad1 G T 2: 70,597,168 V473L probably benign Het
Krt16 G A 11: 100,247,905 T185I probably benign Het
Mapk1ip1 C T 7: 138,836,697 M1I probably null Het
Nt5e A T 9: 88,367,298 L428F probably damaging Het
Olfr474 A G 7: 107,955,295 Y218C probably damaging Het
Pah G T 10: 87,578,922 V379F possibly damaging Het
Scn7a T C 2: 66,675,509 T1679A probably benign Het
Sdccag8 T A 1: 176,845,307 H293Q possibly damaging Het
Suco A G 1: 161,827,725 M1066T probably benign Het
Trim9 A G 12: 70,281,880 Y369H probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Other mutations in Gtpbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Gtpbp1 APN 15 79719136 missense possibly damaging 0.90
IGL01783:Gtpbp1 APN 15 79716197 missense probably damaging 1.00
IGL01859:Gtpbp1 APN 15 79719140 missense probably benign
IGL02245:Gtpbp1 APN 15 79690926 missense probably benign 0.02
IGL02532:Gtpbp1 APN 15 79720077 missense probably benign 0.05
IGL02730:Gtpbp1 APN 15 79719171 missense probably benign
IGL02796:Gtpbp1 UTSW 15 79716985 missense possibly damaging 0.83
R0525:Gtpbp1 UTSW 15 79713447 missense probably benign 0.09
R0531:Gtpbp1 UTSW 15 79720091 missense probably damaging 1.00
R0535:Gtpbp1 UTSW 15 79707732 missense probably damaging 1.00
R0665:Gtpbp1 UTSW 15 79713447 missense probably benign 0.09
R0760:Gtpbp1 UTSW 15 79719155 missense probably damaging 0.99
R0799:Gtpbp1 UTSW 15 79716200 missense probably damaging 1.00
R1445:Gtpbp1 UTSW 15 79713448 missense possibly damaging 0.82
R1458:Gtpbp1 UTSW 15 79707729 missense probably damaging 1.00
R1462:Gtpbp1 UTSW 15 79707885 missense probably damaging 1.00
R1462:Gtpbp1 UTSW 15 79707885 missense probably damaging 1.00
R1498:Gtpbp1 UTSW 15 79719021 splice site probably null
R1567:Gtpbp1 UTSW 15 79712190 missense probably damaging 0.98
R3028:Gtpbp1 UTSW 15 79715879 missense possibly damaging 0.64
R4431:Gtpbp1 UTSW 15 79716197 missense probably damaging 1.00
R4583:Gtpbp1 UTSW 15 79715951 missense possibly damaging 0.64
R4854:Gtpbp1 UTSW 15 79719205 missense probably benign
R4925:Gtpbp1 UTSW 15 79715968 missense probably benign 0.23
R5023:Gtpbp1 UTSW 15 79719221 missense possibly damaging 0.49
R5052:Gtpbp1 UTSW 15 79715969 missense probably damaging 1.00
R5695:Gtpbp1 UTSW 15 79712174 unclassified probably null
R6009:Gtpbp1 UTSW 15 79712096 missense probably damaging 1.00
R6089:Gtpbp1 UTSW 15 79706997 missense probably benign 0.15
R7088:Gtpbp1 UTSW 15 79719282 missense
R7343:Gtpbp1 UTSW 15 79691042 missense probably benign 0.03
R7383:Gtpbp1 UTSW 15 79716153 missense probably damaging 1.00
Posted On2014-02-04