Incidental Mutation 'R6437:Gtpbp10'
ID 518807
Institutional Source Beutler Lab
Gene Symbol Gtpbp10
Ensembl Gene ENSMUSG00000040464
Gene Name GTP-binding protein 10 (putative)
Synonyms 4930545J22Rik
MMRRC Submission 044575-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6437 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 5587454-5609538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5607406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 12 (Y12H)
Ref Sequence ENSEMBL: ENSMUSP00000119250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088842] [ENSMUST00000115441] [ENSMUST00000119521] [ENSMUST00000147244] [ENSMUST00000198799]
AlphaFold Q8K013
Predicted Effect probably damaging
Transcript: ENSMUST00000088842
AA Change: Y12H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086225
Gene: ENSMUSG00000040464
AA Change: Y12H

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
Pfam:FeoB_N 75 163 3e-7 PFAM
Pfam:MMR_HSR1 77 200 2.5e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115441
AA Change: Y12H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111101
Gene: ENSMUSG00000040464
AA Change: Y12H

DomainStartEndE-ValueType
Pfam:GTP1_OBG 15 142 1.3e-18 PFAM
Pfam:FeoB_N 149 241 1.4e-8 PFAM
Pfam:MMR_HSR1 150 279 1.8e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000119521
AA Change: Y12H
SMART Domains Protein: ENSMUSP00000113648
Gene: ENSMUSG00000040464
AA Change: Y12H

DomainStartEndE-ValueType
Pfam:GTP1_OBG 15 118 6.7e-14 PFAM
Pfam:MMR_HSR1 95 206 2.6e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000126855
AA Change: Y10H
SMART Domains Protein: ENSMUSP00000118395
Gene: ENSMUSG00000040464
AA Change: Y10H

DomainStartEndE-ValueType
low complexity region 27 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128887
SMART Domains Protein: ENSMUSP00000121101
Gene: ENSMUSG00000040464

DomainStartEndE-ValueType
Pfam:GTP1_OBG 1 85 2.7e-11 PFAM
low complexity region 101 113 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000147244
AA Change: Y12H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119250
Gene: ENSMUSG00000040464
AA Change: Y12H

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152984
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a T A 3: 37,582,347 (GRCm39) V794E probably damaging Het
Agrn C T 4: 156,261,235 (GRCm39) V514I probably damaging Het
Atg16l1 T C 1: 87,718,370 (GRCm39) L545P probably damaging Het
Ces3b T A 8: 105,819,238 (GRCm39) D431E probably damaging Het
Cracr2a A G 6: 127,608,794 (GRCm39) D291G probably damaging Het
Csmd2 T G 4: 127,881,893 (GRCm39) C11G probably benign Het
Cstdc3 A G 16: 36,132,999 (GRCm39) E92G probably damaging Het
Dido1 A G 2: 180,316,806 (GRCm39) I127T probably damaging Het
Dpp8 A T 9: 64,981,860 (GRCm39) Y714F probably benign Het
Efcab5 G A 11: 77,028,728 (GRCm39) A201V probably benign Het
Eif3h C T 15: 51,662,660 (GRCm39) V129I probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fars2 G A 13: 36,388,846 (GRCm39) V112I probably benign Het
Fbn2 T G 18: 58,246,435 (GRCm39) D489A probably damaging Het
Frmd4b G T 6: 97,273,228 (GRCm39) S675R probably damaging Het
Fsip2 C T 2: 82,813,836 (GRCm39) S3385F possibly damaging Het
Kcng3 A G 17: 83,938,558 (GRCm39) S164P probably damaging Het
Kifap3 T A 1: 163,685,095 (GRCm39) L483Q probably damaging Het
Klk10 A G 7: 43,432,241 (GRCm39) H58R probably benign Het
Kntc1 T G 5: 123,907,754 (GRCm39) W452G probably damaging Het
Krt87 C T 15: 101,336,273 (GRCm39) D127N possibly damaging Het
Ldaf1 A T 7: 119,715,584 (GRCm39) probably null Het
Lipm A G 19: 34,098,657 (GRCm39) Y377C probably damaging Het
Mrc2 G A 11: 105,240,669 (GRCm39) R1453H probably damaging Het
Nat1 T C 8: 67,944,388 (GRCm39) F255L possibly damaging Het
Neb C T 2: 52,147,569 (GRCm39) probably null Het
Nek5 T A 8: 22,575,476 (GRCm39) D491V possibly damaging Het
Nynrin T C 14: 56,109,227 (GRCm39) S1445P probably benign Het
Oog2 T A 4: 143,921,678 (GRCm39) probably null Het
Or2j6 C T 7: 139,980,434 (GRCm39) C175Y probably damaging Het
Pafah1b1 T C 11: 74,568,557 (GRCm39) T391A probably benign Het
Pcdhb7 T C 18: 37,475,743 (GRCm39) L293P probably damaging Het
Plce1 A T 19: 38,513,576 (GRCm39) T292S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rfx7 A G 9: 72,525,768 (GRCm39) Q986R possibly damaging Het
Rrp9 G T 9: 106,360,150 (GRCm39) R186L probably benign Het
Samm50 T A 15: 84,088,298 (GRCm39) probably null Het
Scoc T C 8: 84,164,616 (GRCm39) D7G probably benign Het
Smad9 C T 3: 54,693,505 (GRCm39) P145S probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snrk A G 9: 121,995,879 (GRCm39) R553G probably damaging Het
Srcap T A 7: 127,127,722 (GRCm39) probably null Het
Syne2 T A 12: 76,037,188 (GRCm39) V3789E possibly damaging Het
Thsd7b T C 1: 129,744,419 (GRCm39) I769T probably damaging Het
Ttc7 A G 17: 87,637,534 (GRCm39) K430E probably damaging Het
Ubr4 T A 4: 139,124,525 (GRCm39) probably null Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r37 G T 7: 9,220,850 (GRCm39) Q338K probably damaging Het
Yod1 T C 1: 130,646,885 (GRCm39) V254A probably damaging Het
Zfpm2 T C 15: 40,962,793 (GRCm39) S152P probably benign Het
Zmym2 T A 14: 57,140,461 (GRCm39) L100H probably damaging Het
Other mutations in Gtpbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Gtpbp10 APN 5 5,596,372 (GRCm39) missense possibly damaging 0.71
IGL02654:Gtpbp10 APN 5 5,593,372 (GRCm39) unclassified probably benign
IGL03170:Gtpbp10 APN 5 5,605,355 (GRCm39) missense probably benign 0.03
R0421:Gtpbp10 UTSW 5 5,607,290 (GRCm39) missense probably benign 0.00
R4582:Gtpbp10 UTSW 5 5,592,395 (GRCm39) missense possibly damaging 0.95
R4832:Gtpbp10 UTSW 5 5,589,295 (GRCm39) missense possibly damaging 0.85
R6969:Gtpbp10 UTSW 5 5,605,331 (GRCm39) missense probably damaging 1.00
R7072:Gtpbp10 UTSW 5 5,596,365 (GRCm39) missense probably benign
R7349:Gtpbp10 UTSW 5 5,605,379 (GRCm39) missense possibly damaging 0.95
R9500:Gtpbp10 UTSW 5 5,606,120 (GRCm39) nonsense probably null
R9570:Gtpbp10 UTSW 5 5,596,382 (GRCm39) missense probably damaging 1.00
R9609:Gtpbp10 UTSW 5 5,607,396 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCATAGGCACTTACCGACTG -3'
(R):5'- GGCTGGGTGGAACAATTGATC -3'

Sequencing Primer
(F):5'- ATAGGCACTTACCGACTGTTTGC -3'
(R):5'- GGTGGAACAATTGATCGTTGAG -3'
Posted On 2018-05-24