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) question?
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

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
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
AlleleSourceChrCoordTypePredicted EffectPPH 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