Incidental Mutation 'IGL03038:Gtpbp3'
ID 408787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtpbp3
Ensembl Gene ENSMUSG00000007610
Gene Name GTP binding protein 3
Synonyms 2410009F13Rik, Gtpbp3
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # IGL03038
Quality Score
Status
Chromosome 8
Chromosomal Location 71940747-71952227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71941947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 96 (V96I)
Ref Sequence ENSEMBL: ENSMUSP00000114193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007754] [ENSMUST00000093450] [ENSMUST00000095259] [ENSMUST00000127741] [ENSMUST00000150969] [ENSMUST00000168847] [ENSMUST00000213382]
AlphaFold Q923K4
Predicted Effect possibly damaging
Transcript: ENSMUST00000007754
AA Change: V96I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
AA Change: V96I

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: ENSMUST00000093450
SMART Domains Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863

DomainStartEndE-ValueType
low complexity region 14 31 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
Pfam:Anoctamin 237 874 3e-149 PFAM
coiled coil region 881 919 N/A INTRINSIC
low complexity region 948 964 N/A INTRINSIC
low complexity region 974 988 N/A INTRINSIC
low complexity region 1042 1056 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000095259
AA Change: V96I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610
AA Change: V96I

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 possibly damaging
Transcript: ENSMUST00000127741
AA Change: V96I

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610
AA Change: V96I

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 possibly damaging
Transcript: ENSMUST00000150969
AA Change: V96I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
AA Change: V96I

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 possibly damaging
Transcript: ENSMUST00000168847
AA Change: V96I

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
AA Change: V96I

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 noncoding transcript
Transcript: ENSMUST00000146551
Predicted Effect probably benign
Transcript: ENSMUST00000213382
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign 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
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
R0639:Gtpbp3 UTSW 8 71,945,379 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02