Incidental Mutation 'R5695:Gtpbp1'
ID 443904
Institutional Source Beutler Lab
Gene Symbol Gtpbp1
Ensembl Gene ENSMUSG00000042535
Gene Name GTP binding protein 1
Synonyms GTPBP1, GP-1
MMRRC Submission 043326-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5695 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79575046-79605680 bp(+) (GRCm39)
Type of Mutation splice site (1 bp from exon)
DNA Base Change (assembly) G to A at 79596375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046463] [ENSMUST00000229046] [ENSMUST00000230262] [ENSMUST00000231095]
AlphaFold O08582
Predicted Effect probably damaging
Transcript: ENSMUST00000046463
AA Change: V305M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: V305M

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 probably benign
Transcript: ENSMUST00000228991
Predicted Effect probably benign
Transcript: ENSMUST00000229046
Predicted Effect probably benign
Transcript: ENSMUST00000229583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230023
Predicted Effect probably null
Transcript: ENSMUST00000230262
Predicted Effect possibly damaging
Transcript: ENSMUST00000231095
AA Change: V78M

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.3092 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (58/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,660,745 (GRCm39) H116L probably damaging Het
Anapc4 C T 5: 53,019,581 (GRCm39) S581L probably benign Het
Ano8 A C 8: 71,935,887 (GRCm39) D276E probably damaging Het
Aspm G A 1: 139,407,407 (GRCm39) R2098H probably benign Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Bpifb4 G A 2: 153,784,843 (GRCm39) G184S probably damaging Het
Cbx8 T C 11: 118,930,137 (GRCm39) D152G probably benign Het
Cdca2 A G 14: 67,943,078 (GRCm39) probably null Het
Cgn G A 3: 94,680,945 (GRCm39) A531V probably benign Het
Cmya5 C A 13: 93,182,374 (GRCm39) probably null Het
Cntnap3 A G 13: 64,935,769 (GRCm39) S365P probably damaging Het
Crnn A G 3: 93,056,330 (GRCm39) Q372R probably damaging Het
Ehf T A 2: 103,097,124 (GRCm39) E276V probably damaging Het
Eif4g3 T A 4: 137,890,744 (GRCm39) probably null Het
Enpep C T 3: 129,102,748 (GRCm39) D403N probably damaging Het
Enpp1 T C 10: 24,530,806 (GRCm39) E550G probably damaging Het
Entpd8 A G 2: 24,974,346 (GRCm39) D377G probably benign Het
Epc2 T A 2: 49,437,619 (GRCm39) probably null Het
Erich3 G T 3: 154,439,210 (GRCm39) G481V probably damaging Het
Fank1 A G 7: 133,471,075 (GRCm39) Y156C probably damaging Het
Fras1 A G 5: 96,929,203 (GRCm39) D3869G probably damaging Het
Gcnt2 A G 13: 41,071,675 (GRCm39) D106G probably benign Het
Gm20830 A T Y: 6,916,501 (GRCm39) V206E probably benign Het
Gmpr2 T C 14: 55,914,691 (GRCm39) V228A possibly damaging Het
Gon4l TGAGCA TGAGCAGAGCA 3: 88,803,523 (GRCm39) probably null Het
Hhat A T 1: 192,399,327 (GRCm39) M271K probably damaging Het
Hipk2 A T 6: 38,795,810 (GRCm39) M153K possibly damaging Het
Hydin A T 8: 111,261,915 (GRCm39) H2672L probably benign Het
Igfbpl1 A T 4: 45,826,374 (GRCm39) D140E probably damaging Het
Kctd1 T G 18: 15,196,573 (GRCm39) probably benign Het
Lax1 A T 1: 133,608,316 (GRCm39) Y142N probably damaging Het
Lpin2 C T 17: 71,551,798 (GRCm39) R733C probably damaging Het
Morn4 A G 19: 42,064,556 (GRCm39) L144P possibly damaging Het
Nup214 C A 2: 31,924,385 (GRCm39) T1638K probably damaging Het
Nyap1 C T 5: 137,733,246 (GRCm39) A596T probably damaging Het
Oas1d T C 5: 121,053,074 (GRCm39) M43T probably benign Het
Or4l15 T C 14: 50,198,080 (GRCm39) T150A probably benign Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Or8b42 A G 9: 38,342,472 (GRCm39) H298R probably benign Het
Pacs1 A G 19: 5,186,819 (GRCm39) F851S probably damaging Het
Pcdh17 A G 14: 84,683,800 (GRCm39) Q89R probably damaging Het
Phrf1 A G 7: 140,838,378 (GRCm39) probably benign Het
Plekhb1 A T 7: 100,304,602 (GRCm39) I34N probably damaging Het
Ralgapa2 T C 2: 146,175,397 (GRCm39) E1800G probably damaging Het
Rbm33 A T 5: 28,544,010 (GRCm39) I89F probably damaging Het
Rtl1 T A 12: 109,560,531 (GRCm39) E436V probably damaging Het
Slc2a4 G T 11: 69,837,217 (GRCm39) P73Q probably damaging Het
Sorbs2 A T 8: 46,245,912 (GRCm39) T311S probably benign Het
Sulf2 G A 2: 165,974,678 (GRCm39) A2V probably benign Het
Supt16 A T 14: 52,411,601 (GRCm39) probably null Het
Vmn1r26 A T 6: 57,985,738 (GRCm39) N150K probably damaging Het
Vmn2r39 T A 7: 9,028,150 (GRCm39) H407L possibly damaging Het
Vmn2r84 T A 10: 130,225,064 (GRCm39) Y482F probably benign Het
Vps9d1 T C 8: 123,973,655 (GRCm39) E376G probably benign Het
Wrn C A 8: 33,814,346 (GRCm39) G366V probably benign 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
IGL01794:Gtpbp1 APN 15 79,600,447 (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
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
Predicted Primers PCR Primer
(F):5'- TGTCAGACAAGCTTTCCCC -3'
(R):5'- GATCCTACACTTGGAAGCAGG -3'

Sequencing Primer
(F):5'- AGACAAGCTTTCCCCGGCAG -3'
(R):5'- AGACTCTGTCTGATGGACCC -3'
Posted On 2016-11-09