Incidental Mutation 'IGL01712:Gtpbp6'
ID104825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtpbp6
Ensembl Gene ENSMUSG00000033434
Gene NameGTP binding protein 6 (putative)
SynonymsPgbpll, pgpl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01712
Quality Score
Status
Chromosome5
Chromosomal Location110103975-110108197 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110104379 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 429 (I429N)
Ref Sequence ENSEMBL: ENSMUSP00000076458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077220] [ENSMUST00000086687] [ENSMUST00000112534] [ENSMUST00000135409] [ENSMUST00000140538] [ENSMUST00000141066]
Predicted Effect probably benign
Transcript: ENSMUST00000077220
AA Change: I429N

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: I429N

DomainStartEndE-ValueType
low complexity region 50 83 N/A INTRINSIC
Pfam:GTP-bdg_N 107 198 9.1e-15 PFAM
Pfam:GTP-bdg_M 200 279 1.9e-17 PFAM
Pfam:MMR_HSR1 286 404 3.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086687
SMART Domains Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247

DomainStartEndE-ValueType
SCOP:d2ptd__ 48 355 1e-70 SMART
PDB:1AOD|A 57 228 1e-12 PDB
Blast:PLCXc 70 228 8e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112534
SMART Domains Protein: ENSMUSP00000108153
Gene: ENSMUSG00000064247

DomainStartEndE-ValueType
SCOP:d2ptd__ 1 111 2e-21 SMART
PDB:1AOD|A 7 95 3e-6 PDB
Blast:PLCXc 15 121 4e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131918
Predicted Effect probably benign
Transcript: ENSMUST00000135409
SMART Domains Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
coiled coil region 185 218 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138881
Predicted Effect probably benign
Transcript: ENSMUST00000140538
Predicted Effect probably benign
Transcript: ENSMUST00000141066
SMART Domains Protein: ENSMUSP00000119248
Gene: ENSMUSG00000064247

DomainStartEndE-ValueType
SCOP:d2ptd__ 1 97 6e-20 SMART
PDB:1AOD|A 7 95 3e-6 PDB
Blast:PLCXc 15 99 5e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199496
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,279 V161A probably benign Het
Arhgdib G A 6: 136,924,197 T178M probably damaging Het
Atp11a T A 8: 12,851,138 I989K probably benign Het
Bcam T C 7: 19,758,767 S498G probably damaging Het
Bcas3 A G 11: 85,581,048 I728V probably damaging Het
Cep57 G T 9: 13,813,417 P119Q possibly damaging Het
Clip4 T A 17: 71,799,041 I73N probably damaging Het
Cpa4 A G 6: 30,590,816 D371G possibly damaging Het
Dnah7a A G 1: 53,423,270 S3721P probably benign Het
Fam166a T C 2: 25,218,792 probably benign Het
Fcrla T C 1: 170,921,623 probably null Het
Foxg1 T C 12: 49,385,620 S379P possibly damaging Het
Gatm T A 2: 122,600,825 Y227F possibly damaging Het
Gm8298 T A 3: 59,868,900 I164N possibly damaging Het
Grid2 A T 6: 64,665,915 D887V possibly damaging Het
Ighmbp2 A G 19: 3,273,038 probably benign Het
Irs4 T C X: 141,722,399 N934D unknown Het
Kif16b T A 2: 142,648,471 N1257I probably damaging Het
L1cam T C X: 73,864,438 Y169C probably damaging Het
L3mbtl3 A T 10: 26,276,235 M821K probably damaging Het
Lig3 A G 11: 82,789,541 probably benign Het
Lpin2 T A 17: 71,215,068 D32E probably damaging Het
Mcoln3 T C 3: 146,128,264 probably benign Het
Mgst2 T C 3: 51,664,571 V40A probably damaging Het
Mov10l1 T C 15: 89,024,766 S997P probably damaging Het
Mycbpap G T 11: 94,512,655 H187Q possibly damaging Het
Olfr136 A T 17: 38,335,957 T267S probably benign Het
Olfr652 T C 7: 104,565,019 V266A probably benign Het
Onecut2 T A 18: 64,386,602 S478T probably damaging Het
Pcdhb5 A T 18: 37,321,253 I229F probably damaging Het
Pfas A G 11: 68,991,060 V933A probably benign Het
Phldb2 A T 16: 45,751,429 I1200N probably damaging Het
Pla2g4e C A 2: 120,189,403 probably null Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Rhot2 A G 17: 25,841,360 probably null Het
Serpina3f C T 12: 104,218,398 P267L probably damaging Het
Sppl2a C T 2: 126,904,903 probably benign Het
Tas2r122 A T 6: 132,711,762 M56K possibly damaging Het
Tbxas1 A G 6: 39,081,060 T450A probably benign Het
Tex16 T C X: 112,093,754 S87P probably damaging Het
Them7 T A 2: 105,378,885 F183L possibly damaging Het
Tmbim7 A G 5: 3,670,074 T116A probably damaging Het
Tomm40 G T 7: 19,703,363 S224R probably benign Het
Top3a A T 11: 60,761,736 I84N probably damaging Het
Vmn1r28 A G 6: 58,265,408 T79A probably benign Het
Vmn2r61 A T 7: 42,260,237 Y62F probably damaging Het
Zbtb42 T C 12: 112,680,284 C298R probably benign Het
Zfp395 G A 14: 65,386,387 E102K probably damaging Het
Other mutations in Gtpbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03330:Gtpbp6 APN 5 110107063 missense possibly damaging 0.95
R0457:Gtpbp6 UTSW 5 110106742 missense probably damaging 1.00
R1424:Gtpbp6 UTSW 5 110104289 unclassified probably null
R2012:Gtpbp6 UTSW 5 110104924 missense probably damaging 0.98
R2048:Gtpbp6 UTSW 5 110107065 missense probably damaging 1.00
R4520:Gtpbp6 UTSW 5 110107859 missense probably benign 0.41
R4629:Gtpbp6 UTSW 5 110106908 missense possibly damaging 0.95
R4762:Gtpbp6 UTSW 5 110104320 missense probably damaging 1.00
R4878:Gtpbp6 UTSW 5 110107311 unclassified probably benign
R5050:Gtpbp6 UTSW 5 110104701 unclassified probably benign
R5174:Gtpbp6 UTSW 5 110108117 missense possibly damaging 0.91
R5327:Gtpbp6 UTSW 5 110106904 missense probably damaging 1.00
R5450:Gtpbp6 UTSW 5 110107125 missense probably damaging 0.99
R5685:Gtpbp6 UTSW 5 110104939 missense probably damaging 1.00
R5773:Gtpbp6 UTSW 5 110106891 missense possibly damaging 0.94
R5793:Gtpbp6 UTSW 5 110107228 missense probably benign 0.01
R7205:Gtpbp6 UTSW 5 110104612 missense probably damaging 1.00
R7263:Gtpbp6 UTSW 5 110104049 missense probably benign 0.01
R7623:Gtpbp6 UTSW 5 110105084 missense probably damaging 1.00
R7790:Gtpbp6 UTSW 5 110104386 missense probably damaging 1.00
Posted On2014-01-21