Incidental Mutation 'R4832:Gtpbp10'
ID 372892
Institutional Source Beutler Lab
Gene Symbol Gtpbp10
Ensembl Gene ENSMUSG00000040464
Gene Name GTP-binding protein 10 (putative)
Synonyms 4930545J22Rik
MMRRC Submission 042448-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4832 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 5587454-5609538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5589295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 274 (A274V)
Ref Sequence ENSEMBL: ENSMUSP00000086225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088842] [ENSMUST00000115441] [ENSMUST00000119521]
AlphaFold Q8K013
Predicted Effect possibly damaging
Transcript: ENSMUST00000088842
AA Change: A274V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086225
Gene: ENSMUSG00000040464
AA Change: A274V

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 benign
Transcript: ENSMUST00000115441
AA Change: A353V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000111101
Gene: ENSMUSG00000040464
AA Change: A353V

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 probably benign
Transcript: ENSMUST00000119521
SMART Domains Protein: ENSMUSP00000113648
Gene: ENSMUSG00000040464

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

DomainStartEndE-ValueType
low complexity region 27 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127670
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 noncoding transcript
Transcript: ENSMUST00000152950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198421
Meta Mutation Damage Score 0.0919 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (106/108)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,597 (GRCm39) V186A possibly damaging Het
1700088E04Rik A T 15: 79,019,409 (GRCm39) M198K probably damaging Het
4933402J07Rik A G 8: 88,294,601 (GRCm39) K84R probably null Het
Aamdc T C 7: 97,199,773 (GRCm39) probably null Het
Abcc9 A G 6: 142,617,282 (GRCm39) V594A probably damaging Het
Adamts13 G A 2: 26,879,414 (GRCm39) D656N probably benign Het
Adcy10 G T 1: 165,334,213 (GRCm39) C122F probably damaging Het
Adi1 A G 12: 28,725,252 (GRCm39) M1V probably null Het
Ahnak G A 19: 8,989,824 (GRCm39) probably benign Het
Akt1 G T 12: 112,623,521 (GRCm39) P313Q probably damaging Het
Ano3 A T 2: 110,498,067 (GRCm39) M758K probably damaging Het
Baz2a T A 10: 127,958,999 (GRCm39) N1168K probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bcap29 A G 12: 31,674,202 (GRCm39) I131T probably benign Het
Brd10 G T 19: 29,694,616 (GRCm39) L1626I possibly damaging Het
Btnl6 T C 17: 34,732,966 (GRCm39) D299G possibly damaging Het
Ccdc66 A G 14: 27,222,524 (GRCm39) I73T probably benign Het
Cdh2 A G 18: 16,760,754 (GRCm39) S538P probably benign Het
Cfap54 T A 10: 92,803,390 (GRCm39) M1551L probably benign Het
Chd2 G A 7: 73,151,873 (GRCm39) A243V probably damaging Het
Cntnap1 T A 11: 101,073,845 (GRCm39) N665K probably damaging Het
Colgalt2 C T 1: 152,360,749 (GRCm39) T262I possibly damaging Het
Cyp24a1 T C 2: 170,338,098 (GRCm39) I149V probably benign Het
Cyp2a5 T A 7: 26,534,970 (GRCm39) probably null Het
Dab2 A G 15: 6,366,080 (GRCm39) probably null Het
Dnah17 T A 11: 117,917,606 (GRCm39) I4158F probably damaging Het
Dnm2 G A 9: 21,385,975 (GRCm39) probably null Het
Dpp7 A T 2: 25,242,398 (GRCm39) probably benign Het
Epha6 T A 16: 59,780,776 (GRCm39) I642F probably damaging Het
Erbb4 T C 1: 68,369,397 (GRCm39) S415G probably benign Het
Fancd2 A G 6: 113,530,683 (GRCm39) T439A probably benign Het
Fat1 G A 8: 45,466,102 (GRCm39) V1431M possibly damaging Het
Fhod3 G A 18: 25,223,305 (GRCm39) A884T probably benign Het
Fsip2 A G 2: 82,820,515 (GRCm39) D5416G possibly damaging Het
Gabarap C T 11: 69,882,678 (GRCm39) probably benign Het
Garre1 T C 7: 33,938,333 (GRCm39) probably benign Het
Gm11544 C T 11: 94,736,532 (GRCm39) noncoding transcript Het
Gnat2 A C 3: 108,007,964 (GRCm39) K304Q probably benign Het
Gpr141b T A 13: 19,913,840 (GRCm39) noncoding transcript Het
Gramd4 C T 15: 86,019,057 (GRCm39) A575V probably benign Het
Gzmb A G 14: 56,497,679 (GRCm39) I187T probably damaging Het
H2-M10.2 G A 17: 36,595,219 (GRCm39) T315I probably damaging Het
Haus5 A T 7: 30,356,452 (GRCm39) F524I probably damaging Het
Herc1 A G 9: 66,403,253 (GRCm39) S4391G probably benign Het
Herc2 T A 7: 55,748,165 (GRCm39) L511* probably null Het
Htt T A 5: 34,982,184 (GRCm39) C923S probably benign Het
Idua T C 5: 108,817,247 (GRCm39) S7P probably benign Het
Ighv16-1 A T 12: 114,032,466 (GRCm39) L112Q probably damaging Het
Igkv1-110 A G 6: 68,248,185 (GRCm39) K98R probably benign Het
Kif15 G A 9: 122,831,191 (GRCm39) probably null Het
Leng9 C A 7: 4,152,029 (GRCm39) G216W probably damaging Het
Lrpprc A G 17: 85,014,584 (GRCm39) L1306S probably benign Het
Lztfl1 C A 9: 123,544,454 (GRCm39) E20D possibly damaging Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Map3k4 C T 17: 12,490,667 (GRCm39) E255K probably damaging Het
Megf9 G A 4: 70,452,665 (GRCm39) T132M probably damaging Het
Mob4 T C 1: 55,184,411 (GRCm39) probably benign Het
Mttp G A 3: 137,821,811 (GRCm39) A252V probably benign Het
Mxi1 A G 19: 53,358,745 (GRCm39) D226G probably damaging Het
Myh14 A G 7: 44,274,566 (GRCm39) S1249P probably benign Het
Mylk G A 16: 34,742,737 (GRCm39) G1083D probably benign Het
Mylk4 T G 13: 32,905,960 (GRCm39) I408L probably benign Het
Nbas A G 12: 13,533,740 (GRCm39) S1792G probably benign Het
Nelfb A G 2: 25,099,981 (GRCm39) V212A probably damaging Het
Nisch T C 14: 30,899,587 (GRCm39) probably benign Het
Nqo1 C G 8: 108,115,477 (GRCm39) D267H probably benign Het
Or8u10 C A 2: 85,915,190 (GRCm39) L310F probably benign Het
Pcid2 T A 8: 13,135,425 (GRCm39) I195F probably damaging Het
Pcnx2 A T 8: 126,478,927 (GRCm39) M2107K probably damaging Het
Pgd A T 4: 149,241,048 (GRCm39) probably benign Het
Prim2 T C 1: 33,503,145 (GRCm39) M430V probably benign Het
Prkaa1 A G 15: 5,190,101 (GRCm39) T40A probably damaging Het
Ptges T C 2: 30,793,232 (GRCm39) probably benign Het
Ptprn T C 1: 75,234,909 (GRCm39) E226G probably benign Het
Rab14 A G 2: 35,079,978 (GRCm39) F55S probably damaging Het
Ralgps2 A T 1: 156,684,637 (GRCm39) probably benign Het
Rgs11 C T 17: 26,426,542 (GRCm39) H258Y probably benign Het
Rhpn2 T C 7: 35,075,774 (GRCm39) probably null Het
Rprd2 A T 3: 95,681,483 (GRCm39) V452E probably damaging Het
Scube3 C A 17: 28,384,989 (GRCm39) H646Q probably damaging Het
Selp A T 1: 163,953,909 (GRCm39) I70F probably damaging Het
Septin2 A G 1: 93,426,849 (GRCm39) I153V probably damaging Het
Sh3rf3 G A 10: 58,649,905 (GRCm39) S170N probably benign Het
Skint4 A T 4: 112,000,963 (GRCm39) I353F possibly damaging Het
Slc16a12 A G 19: 34,657,780 (GRCm39) I41T possibly damaging Het
Snai2 T C 16: 14,524,881 (GRCm39) F129S probably damaging Het
Top3b C T 16: 16,708,526 (GRCm39) R629* probably null Het
Trim17 T A 11: 58,862,270 (GRCm39) V434E probably damaging Het
Ttn G A 2: 76,615,327 (GRCm39) P15051L probably damaging Het
Uggt2 A T 14: 119,239,259 (GRCm39) I1391N probably damaging Het
Usp8 A T 2: 126,596,958 (GRCm39) M923L probably damaging Het
Vmn1r176 T C 7: 23,534,463 (GRCm39) H230R possibly damaging Het
Vmn1r217 C A 13: 23,298,159 (GRCm39) D248Y probably damaging Het
Vmn2r14 A T 5: 109,363,976 (GRCm39) C647S probably damaging Het
Vwa5b1 A G 4: 138,332,851 (GRCm39) I237T probably damaging Het
Zan T A 5: 137,391,423 (GRCm39) D4687V unknown Het
Zfp273 T C 13: 67,973,484 (GRCm39) V204A probably benign Het
Zfp956 T G 6: 47,928,987 (GRCm39) probably benign 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
R6437:Gtpbp10 UTSW 5 5,607,406 (GRCm39) missense probably damaging 1.00
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'- ACACGTGTCTATATCATATACAGCATG -3'
(R):5'- AAGGCAATGAAAATCACCTGTTC -3'

Sequencing Primer
(F):5'- CTTTCTAAGATTCCGCATGTGAG -3'
(R):5'- TGAAAATCACCTGTTCTTGTTTCAG -3'
Posted On 2016-03-01