Incidental Mutation 'IGL00513:Gtpbp10'
ID6504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtpbp10
Ensembl Gene ENSMUSG00000040464
Gene NameGTP-binding protein 10 (putative)
Synonyms4930545J22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00513
Quality Score
Status
Chromosome5
Chromosomal Location5537454-5559538 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5546372 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 112 (M112K)
Ref Sequence ENSEMBL: ENSMUSP00000086225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088842] [ENSMUST00000115441] [ENSMUST00000119521] [ENSMUST00000147244]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088842
AA Change: M112K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086225
Gene: ENSMUSG00000040464
AA Change: M112K

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: M191K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000111101
Gene: ENSMUSG00000040464
AA Change: M191K

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
AA Change: M118K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113648
Gene: ENSMUSG00000040464
AA Change: M118K

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 probably benign
Transcript: ENSMUST00000147244
SMART Domains Protein: ENSMUSP00000119250
Gene: ENSMUSG00000040464

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198421
Coding Region Coverage
Validation Efficiency
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,578,156 I157F possibly damaging Het
Adamts12 T A 15: 11,256,961 S467T probably benign Het
Cacna1a T C 8: 84,553,056 I680T probably damaging Het
Dennd2d A T 3: 106,500,545 Q457L possibly damaging Het
Fndc1 T C 17: 7,765,254 Y1280C unknown Het
Kcnh7 C T 2: 62,764,691 M678I probably benign Het
Kif20b C A 19: 34,947,660 T739K possibly damaging Het
Plk2 T A 13: 110,398,764 M444K probably benign Het
Scn1a T G 2: 66,335,531 probably null Het
Sycp1 A T 3: 102,840,962 I838K probably benign Het
Ugt2b36 T C 5: 87,081,581 D341G possibly damaging Het
Vps13b A T 15: 35,793,884 L2235F probably damaging Het
Wdr7 T A 18: 63,720,775 L60I possibly damaging Het
Other mutations in Gtpbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02654:Gtpbp10 APN 5 5543372 unclassified probably benign
IGL03170:Gtpbp10 APN 5 5555355 missense probably benign 0.03
R0421:Gtpbp10 UTSW 5 5557290 missense probably benign 0.00
R4582:Gtpbp10 UTSW 5 5542395 missense possibly damaging 0.95
R4832:Gtpbp10 UTSW 5 5539295 missense possibly damaging 0.85
R6437:Gtpbp10 UTSW 5 5557406 missense probably damaging 1.00
R6969:Gtpbp10 UTSW 5 5555331 missense probably damaging 1.00
R7072:Gtpbp10 UTSW 5 5546365 missense probably benign
R7349:Gtpbp10 UTSW 5 5555379 missense possibly damaging 0.95
Posted On2012-04-20