Incidental Mutation 'R0639:Gtpbp3'
ID 56921
Institutional Source Beutler Lab
Gene Symbol Gtpbp3
Ensembl Gene ENSMUSG00000007610
Gene Name GTP binding protein 3
Synonyms 2410009F13Rik, Gtpbp3
MMRRC Submission 038828-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R0639 (G1)
Quality Score 220
Status Not validated
Chromosome 8
Chromosomal Location 71940747-71952227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71945379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 485 (I485F)
Ref Sequence ENSEMBL: ENSMUSP00000126761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007754] [ENSMUST00000095259] [ENSMUST00000127741] [ENSMUST00000168847] [ENSMUST00000150969]
AlphaFold Q923K4
Predicted Effect probably damaging
Transcript: ENSMUST00000007754
AA Change: I484F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
AA Change: I484F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 152 1.8e-36 PFAM
Pfam:FeoB_N 250 390 3.9e-6 PFAM
Pfam:MMR_HSR1 251 375 1.6e-18 PFAM
Pfam:GTPase_Cys_C 421 489 9.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095259
SMART Domains Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 152 4.1e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124349
Predicted Effect probably benign
Transcript: ENSMUST00000127741
SMART Domains Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 152 2.2e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146551
Predicted Effect probably damaging
Transcript: ENSMUST00000168847
AA Change: I485F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
AA Change: I485F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 153 3e-35 PFAM
Pfam:MnmE_helical 156 490 2e-48 PFAM
Pfam:FeoB_N 251 390 1.5e-7 PFAM
Pfam:MMR_HSR1 252 376 1.5e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150969
AA Change: I484F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
AA Change: I484F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 152 1.8e-36 PFAM
Pfam:FeoB_N 250 390 3.9e-6 PFAM
Pfam:MMR_HSR1 251 375 1.6e-18 PFAM
Pfam:GTPase_Cys_C 421 489 9.9e-16 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik C T 17: 46,043,999 (GRCm39) W86* probably null Het
Acadl T C 1: 66,896,567 (GRCm39) H75R probably benign Het
Adamtsl1 T C 4: 86,195,380 (GRCm39) F599S probably damaging Het
Adrb3 T C 8: 27,718,293 (GRCm39) N52S probably damaging Het
Agbl3 T A 6: 34,776,640 (GRCm39) L377Q probably damaging Het
Akap9 T C 5: 4,110,318 (GRCm39) L3007P probably damaging Het
Amer3 T A 1: 34,626,902 (GRCm39) Y380* probably null Het
Ankrd13d A T 19: 4,323,047 (GRCm39) probably null Het
Ap4m1 T A 5: 138,174,501 (GRCm39) C235S probably benign Het
Arhgap29 T C 3: 121,801,290 (GRCm39) F675S probably damaging Het
Asah2 C A 19: 31,986,039 (GRCm39) V544F probably damaging Het
Ash2l A G 8: 26,313,319 (GRCm39) I389T possibly damaging Het
Bend5 T C 4: 111,290,495 (GRCm39) S164P probably benign Het
Cacna1d A G 14: 29,893,251 (GRCm39) probably null Het
Cdc25b A G 2: 131,039,182 (GRCm39) N516D probably benign Het
Cdc27 A G 11: 104,422,560 (GRCm39) Y125H probably damaging Het
Cdk5r2 C T 1: 74,894,995 (GRCm39) L247F probably damaging Het
Cenpf C A 1: 189,390,259 (GRCm39) G1191V probably benign Het
Cops4 C T 5: 100,685,326 (GRCm39) T293I possibly damaging Het
Csmd3 A G 15: 47,777,336 (GRCm39) L1294P probably damaging Het
Dclre1a T C 19: 56,526,872 (GRCm39) Y848C probably damaging Het
Disp2 A T 2: 118,621,325 (GRCm39) I686F possibly damaging Het
Dnah6 T A 6: 72,999,395 (GRCm39) Y4012F probably benign Het
Dnajc11 C G 4: 152,054,393 (GRCm39) R200G probably damaging Het
Dnhd1 A T 7: 105,345,671 (GRCm39) D2272V possibly damaging Het
Elane A C 10: 79,722,183 (GRCm39) R5S possibly damaging Het
Entpd7 G A 19: 43,679,533 (GRCm39) V29M probably benign Het
Fanca A G 8: 124,016,098 (GRCm39) probably null Het
Fgl1 G T 8: 41,644,661 (GRCm39) T281K probably benign Het
Flii T C 11: 60,613,823 (GRCm39) probably null Het
Foxn1 T C 11: 78,261,970 (GRCm39) D133G possibly damaging Het
Fzd7 T A 1: 59,523,719 (GRCm39) M534K probably damaging Het
Galnt5 A G 2: 57,889,407 (GRCm39) T336A probably benign Het
Gli3 G A 13: 15,899,300 (GRCm39) D896N probably damaging Het
Gsx1 G T 5: 147,126,756 (GRCm39) W193L probably damaging Het
H2-M11 A G 17: 36,858,283 (GRCm39) T26A probably benign Het
Igfbp7 T C 5: 77,499,827 (GRCm39) D243G probably damaging Het
Il31ra A T 13: 112,662,377 (GRCm39) D477E possibly damaging Het
Inmt A C 6: 55,148,212 (GRCm39) V139G probably damaging Het
Inpp5j T A 11: 3,451,147 (GRCm39) M501L probably benign Het
Itsn2 T C 12: 4,762,556 (GRCm39) F1579L probably damaging Het
Kat2b C A 17: 53,874,566 (GRCm39) A70E probably benign Het
Klhl20 T C 1: 160,921,281 (GRCm39) E58G probably damaging Het
Krt79 A T 15: 101,839,983 (GRCm39) Y337* probably null Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Letm1 T C 5: 33,926,770 (GRCm39) I176V possibly damaging Het
Lingo3 C A 10: 80,671,618 (GRCm39) R104L probably benign Het
Lrig3 T G 10: 125,846,090 (GRCm39) C840G probably damaging Het
Lrrc9 A G 12: 72,533,062 (GRCm39) N977S probably damaging Het
Lrrk2 T A 15: 91,657,199 (GRCm39) M1831K probably benign Het
Mn1 A T 5: 111,567,182 (GRCm39) D384V probably damaging Het
Morc3 C A 16: 93,650,738 (GRCm39) H319Q probably damaging Het
Morn1 T C 4: 155,173,960 (GRCm39) F56L possibly damaging Het
Mrpl53 G T 6: 83,086,392 (GRCm39) V64L probably damaging Het
Myo15a T A 11: 60,370,162 (GRCm39) V974D probably benign Het
Neb A G 2: 52,146,136 (GRCm39) V2947A possibly damaging Het
Nfasc A C 1: 132,531,554 (GRCm39) N737K probably damaging Het
Nlk T C 11: 78,463,103 (GRCm39) D464G possibly damaging Het
Nlrc4 C T 17: 74,733,958 (GRCm39) R985K probably benign Het
Nsun6 T C 2: 15,001,147 (GRCm39) K470E probably benign Het
Nup85 T G 11: 115,455,357 (GRCm39) M1R probably null Het
Or8b39 G A 9: 37,996,666 (GRCm39) C178Y probably damaging Het
Otop1 T C 5: 38,445,292 (GRCm39) V150A possibly damaging Het
Pclo C T 5: 14,731,763 (GRCm39) R296* probably null Het
Pdzd2 A T 15: 12,458,144 (GRCm39) C240S possibly damaging Het
Plekhg5 A G 4: 152,198,577 (GRCm39) T922A probably benign Het
Plekhm2 A C 4: 141,369,381 (GRCm39) L101R probably damaging Het
Plscr3 T A 11: 69,738,820 (GRCm39) C161S probably benign Het
Prr14l C T 5: 32,986,259 (GRCm39) D1079N probably benign Het
Ptpru A T 4: 131,498,490 (GRCm39) V1377E possibly damaging Het
Rab37 C A 11: 115,049,528 (GRCm39) D112E probably benign Het
Raet1e T A 10: 22,050,274 (GRCm39) I19N probably damaging Het
Rassf5 T C 1: 131,172,803 (GRCm39) Y22C probably damaging Het
Rp1 T C 1: 4,416,721 (GRCm39) T1464A probably benign Het
Safb T A 17: 56,908,092 (GRCm39) probably benign Het
Scarf2 A G 16: 17,624,369 (GRCm39) probably null Het
Scart2 A G 7: 139,827,872 (GRCm39) N27D probably benign Het
Sh3d19 T C 3: 86,014,280 (GRCm39) S415P probably benign Het
Slc26a9 T A 1: 131,691,542 (GRCm39) L595Q probably damaging Het
Slc4a8 T C 15: 100,694,431 (GRCm39) Y470H probably damaging Het
Slitrk3 T C 3: 72,956,982 (GRCm39) N597D probably benign Het
Spata31 T A 13: 65,070,027 (GRCm39) V725E probably benign Het
Spink12 T A 18: 44,240,831 (GRCm39) C72* probably null Het
Spink5 T A 18: 44,146,042 (GRCm39) probably null Het
Stk40 C A 4: 126,012,125 (GRCm39) S9* probably null Het
Sypl1 A T 12: 33,015,420 (GRCm39) T40S probably damaging Het
Tbc1d8 C T 1: 39,430,290 (GRCm39) E438K probably benign Het
Tdrd7 A G 4: 45,989,102 (GRCm39) T111A probably benign Het
Tg A T 15: 66,613,333 (GRCm39) probably null Het
Tlr5 T A 1: 182,801,454 (GRCm39) W253R probably damaging Het
Tmprss11c C T 5: 86,383,328 (GRCm39) C353Y probably damaging Het
Tnfrsf8 T A 4: 145,014,597 (GRCm39) M271L probably benign Het
Toe1 T C 4: 116,663,947 (GRCm39) N21S probably benign Het
Tpp2 T C 1: 44,014,607 (GRCm39) F649L probably benign Het
Ttll1 G A 15: 83,386,426 (GRCm39) Q60* probably null Het
Vcp C T 4: 42,982,565 (GRCm39) R709Q probably benign Het
Vmn1r119 T A 7: 20,745,593 (GRCm39) H263L possibly damaging Het
Vmn1r195 C A 13: 22,463,111 (GRCm39) Q194K probably damaging Het
Vmn1r33 T C 6: 66,588,783 (GRCm39) Y257C probably damaging Het
Vmn2r15 A G 5: 109,440,881 (GRCm39) F326L probably benign Het
Wbp11 A T 6: 136,793,108 (GRCm39) probably benign Het
Wwp2 T G 8: 108,244,578 (GRCm39) V250G probably benign Het
Xpnpep3 T C 15: 81,315,038 (GRCm39) V246A probably benign Het
Zcchc14 G A 8: 122,332,188 (GRCm39) R419* probably null Het
Other mutations in Gtpbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Gtpbp3 APN 8 71,943,078 (GRCm39) missense probably damaging 1.00
IGL02476:Gtpbp3 APN 8 71,945,242 (GRCm39) missense probably damaging 1.00
IGL02669:Gtpbp3 APN 8 71,943,546 (GRCm39) missense probably damaging 1.00
IGL02885:Gtpbp3 APN 8 71,942,064 (GRCm39) unclassified probably benign
IGL03038:Gtpbp3 APN 8 71,941,947 (GRCm39) missense possibly damaging 0.94
R0267:Gtpbp3 UTSW 8 71,944,141 (GRCm39) missense probably damaging 1.00
R0442:Gtpbp3 UTSW 8 71,944,135 (GRCm39) missense probably damaging 0.97
R0673:Gtpbp3 UTSW 8 71,945,379 (GRCm39) missense probably damaging 1.00
R1844:Gtpbp3 UTSW 8 71,945,272 (GRCm39) missense probably benign 0.05
R1957:Gtpbp3 UTSW 8 71,943,099 (GRCm39) missense probably damaging 1.00
R2996:Gtpbp3 UTSW 8 71,942,140 (GRCm39) missense possibly damaging 0.69
R3703:Gtpbp3 UTSW 8 71,944,779 (GRCm39) missense probably benign 0.00
R3705:Gtpbp3 UTSW 8 71,944,779 (GRCm39) missense probably benign 0.00
R4084:Gtpbp3 UTSW 8 71,943,156 (GRCm39) missense probably benign 0.00
R4181:Gtpbp3 UTSW 8 71,944,111 (GRCm39) missense probably damaging 1.00
R4705:Gtpbp3 UTSW 8 71,943,758 (GRCm39) missense probably benign 0.23
R5081:Gtpbp3 UTSW 8 71,943,026 (GRCm39) missense probably damaging 1.00
R5260:Gtpbp3 UTSW 8 71,942,062 (GRCm39) unclassified probably benign
R5619:Gtpbp3 UTSW 8 71,943,692 (GRCm39) intron probably benign
R5844:Gtpbp3 UTSW 8 71,945,199 (GRCm39) missense probably benign 0.01
R6666:Gtpbp3 UTSW 8 71,943,582 (GRCm39) missense possibly damaging 0.61
R7092:Gtpbp3 UTSW 8 71,944,909 (GRCm39) missense probably benign
R7295:Gtpbp3 UTSW 8 71,942,139 (GRCm39) missense possibly damaging 0.81
R7532:Gtpbp3 UTSW 8 71,942,107 (GRCm39) missense probably benign 0.00
R7657:Gtpbp3 UTSW 8 71,943,765 (GRCm39) missense probably benign
R7948:Gtpbp3 UTSW 8 71,945,230 (GRCm39) missense probably damaging 1.00
R8094:Gtpbp3 UTSW 8 71,941,480 (GRCm39) missense possibly damaging 0.52
R8138:Gtpbp3 UTSW 8 71,945,242 (GRCm39) missense probably damaging 1.00
R8935:Gtpbp3 UTSW 8 71,945,181 (GRCm39) critical splice acceptor site probably null
R8973:Gtpbp3 UTSW 8 71,943,806 (GRCm39) missense possibly damaging 0.82
R9087:Gtpbp3 UTSW 8 71,944,999 (GRCm39) missense probably benign 0.27
X0013:Gtpbp3 UTSW 8 71,945,337 (GRCm39) missense possibly damaging 0.77
X0021:Gtpbp3 UTSW 8 71,943,161 (GRCm39) splice site probably null
Z1177:Gtpbp3 UTSW 8 71,941,713 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATCTGATCTGCTGTCTGCTAATGCC -3'
(R):5'- GGTGATGCTGACCTTAATCCCGAC -3'

Sequencing Primer
(F):5'- AGGTCTTTTTCCAAAAGTGGC -3'
(R):5'- GGTGAGGAAGTATCCACTGTC -3'
Posted On 2013-07-11