Incidental Mutation 'IGL02245:Gtpbp1'
ID286171
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 #IGL02245
Quality Score
Status
Chromosome15
Chromosomal Location79690845-79721479 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 79690926 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 7 (R7L)
Ref Sequence ENSEMBL: ENSMUSP00000043575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023061] [ENSMUST00000046463] [ENSMUST00000229046] [ENSMUST00000230262] [ENSMUST00000230898]
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: ENSMUST00000023061
SMART Domains Protein: ENSMUSP00000023061
Gene: ENSMUSG00000022426

DomainStartEndE-ValueType
Josephin 30 190 2.4e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046463
AA Change: R7L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: R7L

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 noncoding transcript
Transcript: ENSMUST00000082475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181207
Predicted Effect probably benign
Transcript: ENSMUST00000229046
Predicted Effect probably benign
Transcript: ENSMUST00000230262
Predicted Effect probably benign
Transcript: ENSMUST00000230898
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,659,815 I1398V probably benign Het
Abca5 G A 11: 110,298,169 Q821* probably null Het
Bcl9 A T 3: 97,208,693 L895Q probably damaging Het
Cpne7 A G 8: 123,117,618 D41G probably damaging Het
Daxx A G 17: 33,912,377 probably benign Het
Dbx2 A G 15: 95,624,747 Y360H probably damaging Het
Dpy19l2 T C 9: 24,696,025 T47A probably benign Het
Ephb3 T C 16: 21,221,424 V512A probably benign Het
Exoc2 T C 13: 30,906,859 D254G probably benign Het
Gucy2c A T 6: 136,729,203 I500N probably benign Het
Hist1h2ac A T 13: 23,683,800 Y40N probably damaging Het
Hist1h2ac G T 13: 23,683,801 N39K possibly damaging Het
Hormad2 T C 11: 4,408,580 probably benign Het
Impg2 A G 16: 56,269,082 Q1130R probably damaging Het
Itga4 T A 2: 79,320,559 D836E probably benign Het
Loxhd1 A T 18: 77,340,101 T456S possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Map1b T C 13: 99,431,528 T1562A unknown Het
Mre11a C T 9: 14,815,276 probably benign Het
Myh1 A C 11: 67,211,487 E868A possibly damaging Het
Nlrp4e T G 7: 23,320,875 S262R probably damaging Het
Nlrp9a C T 7: 26,557,893 T223I probably benign Het
Nosip A G 7: 45,074,042 D44G probably benign Het
Nr6a1 C T 2: 38,740,553 M217I probably benign Het
Numa1 A G 7: 102,000,394 T1111A probably benign Het
Olfr804 T A 10: 129,705,739 I287N probably damaging Het
Pms1 A G 1: 53,207,360 L340P probably damaging Het
Prmt7 T C 8: 106,237,305 V277A probably benign Het
Pxmp4 T C 2: 154,587,950 Y173C probably damaging Het
Rbm11 G T 16: 75,593,008 V21L possibly damaging Het
Rims1 A G 1: 22,346,488 S1123P probably damaging Het
Rnf220 C T 4: 117,299,537 probably benign Het
Rnf41 T G 10: 128,437,327 *123G probably null Het
Samhd1 C T 2: 157,110,555 D426N possibly damaging Het
Scn10a A G 9: 119,672,152 W189R probably damaging Het
Slco1a6 A G 6: 142,109,424 F265L probably damaging Het
Spag16 A G 1: 69,858,502 D137G probably benign Het
Srsf12 G A 4: 33,209,103 probably benign Het
Suclg2 A G 6: 95,595,741 I81T possibly damaging Het
Tmc1 C T 19: 20,799,192 R601H probably damaging Het
Trim33 T C 3: 103,346,770 probably null Het
Vit A G 17: 78,625,051 D529G probably damaging Het
Wbp1l C T 19: 46,654,618 H353Y possibly damaging Het
Wdr70 A T 15: 8,046,482 V170D possibly damaging Het
Ythdc2 T A 18: 44,862,684 I947N possibly damaging Het
Zfp280b T C 10: 76,039,363 S359P probably benign Het
Zfp936 T C 7: 43,187,298 probably null Het
Zscan4d T A 7: 11,162,789 Y218F probably benign 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
IGL01794:Gtpbp1 APN 15 79716246 missense probably damaging 1.00
IGL01859:Gtpbp1 APN 15 79719140 missense probably benign
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 On2015-04-16