Incidental Mutation 'IGL01859:Gtpbp1'
ID 178254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtpbp1
Ensembl Gene ENSMUSG00000042535
Gene Name GTP binding protein 1
Synonyms GTPBP1, GP-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01859
Quality Score
Status
Chromosome 15
Chromosomal Location 79575046-79605680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79603341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 610 (V610E)
Ref Sequence ENSEMBL: ENSMUSP00000043575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046259] [ENSMUST00000046463] [ENSMUST00000089311] [ENSMUST00000100439] [ENSMUST00000231095]
AlphaFold O08582
PDB Structure Murine Alloreactive ScFv TCR-Peptide-MHC Class I Molecule Complex [X-RAY DIFFRACTION]
Mhc Class I H-2Kb molecule complexed with pKB1 peptide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000046259
SMART Domains Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
low complexity region 63 80 N/A INTRINSIC
low complexity region 106 123 N/A INTRINSIC
transmembrane domain 174 196 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
low complexity region 327 339 N/A INTRINSIC
coiled coil region 418 453 N/A INTRINSIC
coiled coil region 491 519 N/A INTRINSIC
Pfam:Sad1_UNC 595 729 1.3e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000046463
AA Change: V610E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: V610E

DomainStartEndE-ValueType
low complexity region 28 37 N/A INTRINSIC
Pfam:GTP_EFTU 160 385 2.7e-24 PFAM
low complexity region 402 420 N/A INTRINSIC
SCOP:d1exma2 491 575 4e-19 SMART
low complexity region 605 619 N/A INTRINSIC
low complexity region 645 653 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089311
SMART Domains Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
low complexity region 63 80 N/A INTRINSIC
low complexity region 106 123 N/A INTRINSIC
transmembrane domain 194 216 N/A INTRINSIC
low complexity region 295 307 N/A INTRINSIC
coiled coil region 386 421 N/A INTRINSIC
coiled coil region 459 487 N/A INTRINSIC
Pfam:Sad1_UNC 563 697 1.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100439
SMART Domains Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
low complexity region 63 80 N/A INTRINSIC
low complexity region 106 123 N/A INTRINSIC
transmembrane domain 174 196 N/A INTRINSIC
transmembrane domain 224 246 N/A INTRINSIC
low complexity region 325 337 N/A INTRINSIC
coiled coil region 416 451 N/A INTRINSIC
coiled coil region 489 517 N/A INTRINSIC
Pfam:Sad1_UNC 593 727 1.2e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162392
Predicted Effect unknown
Transcript: ENSMUST00000228991
AA Change: V142E
Predicted Effect unknown
Transcript: ENSMUST00000229583
AA Change: V135E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230023
Predicted Effect probably benign
Transcript: ENSMUST00000231095
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 is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted null mutation were viable and fertile with no obvious morphological or behavioral defects. In addition, no defects in macrophage function were observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,963,336 (GRCm39) probably benign Het
Ak7 A G 12: 105,711,556 (GRCm39) M398V probably null Het
Angptl3 C T 4: 98,925,669 (GRCm39) R332* probably null Het
Ano7 A G 1: 93,322,168 (GRCm39) Y392C probably damaging Het
Arpc1b T C 5: 145,060,540 (GRCm39) F18L probably damaging Het
Cdc23 G T 18: 34,784,459 (GRCm39) P73Q probably benign Het
Cdkl1 A C 12: 69,806,903 (GRCm39) L111R probably damaging Het
Cntnap2 A G 6: 46,965,655 (GRCm39) D822G probably damaging Het
Col6a5 G A 9: 105,808,160 (GRCm39) R963* probably null Het
Crocc T C 4: 140,756,601 (GRCm39) D1008G probably benign Het
Dntt G T 19: 41,025,743 (GRCm39) M120I probably benign Het
Dock1 A G 7: 134,678,890 (GRCm39) Y1003C possibly damaging Het
Fam178b T A 1: 36,698,446 (GRCm39) R92W probably damaging Het
Fermt2 A G 14: 45,697,413 (GRCm39) V646A possibly damaging Het
Foxc1 T C 13: 31,992,706 (GRCm39) S506P unknown Het
H2-T15 A T 17: 36,368,903 (GRCm39) M59K possibly damaging Het
Hsdl2 T C 4: 59,601,569 (GRCm39) probably null Het
Itgb8 T A 12: 119,153,680 (GRCm39) R278S probably damaging Het
Kcnh7 T A 2: 62,552,132 (GRCm39) D953V probably benign Het
Med13 A T 11: 86,174,577 (GRCm39) D1749E possibly damaging Het
Mocos G T 18: 24,799,717 (GRCm39) probably benign Het
Pcdhb20 T G 18: 37,637,616 (GRCm39) N47K probably damaging Het
Phf21a T A 2: 92,158,701 (GRCm39) F227L probably damaging Het
Piezo2 T C 18: 63,225,915 (GRCm39) E907G probably benign Het
Pla2g4e G T 2: 120,013,214 (GRCm39) Q369K possibly damaging Het
Ppp3cb A G 14: 20,559,517 (GRCm39) I413T probably damaging Het
Ptgis A G 2: 167,056,726 (GRCm39) probably null Het
Rasgrp1 A G 2: 117,119,899 (GRCm39) V452A probably benign Het
Rbms3 T A 9: 116,788,606 (GRCm39) D105V probably damaging Het
Rnase1 C A 14: 51,383,260 (GRCm39) Q31H probably benign Het
Rnase13 G T 14: 52,159,760 (GRCm39) N126K probably damaging Het
Sema5b G T 16: 35,467,479 (GRCm39) V248L possibly damaging Het
Serpinb12 G A 1: 106,881,564 (GRCm39) probably null Het
Slc4a11 A T 2: 130,526,914 (GRCm39) L738Q probably damaging Het
Spta1 A T 1: 174,001,938 (GRCm39) I23F probably damaging Het
Stk-ps2 A T 1: 46,069,202 (GRCm39) noncoding transcript Het
Tcp1 A G 17: 13,141,571 (GRCm39) E350G possibly damaging Het
Tonsl T C 15: 76,518,980 (GRCm39) K518E probably damaging Het
Trim34a A G 7: 103,910,149 (GRCm39) E317G probably damaging Het
Trit1 A G 4: 122,943,344 (GRCm39) S335G probably benign Het
Usp28 G T 9: 48,935,321 (GRCm39) E91* probably null Het
Vmn2r56 A G 7: 12,449,932 (GRCm39) L102P probably damaging Het
Wwtr1 A C 3: 57,384,938 (GRCm39) L203R possibly damaging Het
Zfp110 T C 7: 12,583,467 (GRCm39) V705A possibly damaging Het
Zfp955a T C 17: 33,462,693 (GRCm39) N67S probably benign Het
Other mutations in Gtpbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Gtpbp1 APN 15 79,603,337 (GRCm39) missense possibly damaging 0.90
IGL01783:Gtpbp1 APN 15 79,600,398 (GRCm39) missense probably damaging 1.00
IGL01794:Gtpbp1 APN 15 79,600,447 (GRCm39) missense probably damaging 1.00
IGL02245:Gtpbp1 APN 15 79,575,127 (GRCm39) missense probably benign 0.02
IGL02532:Gtpbp1 APN 15 79,604,278 (GRCm39) missense probably benign 0.05
IGL02730:Gtpbp1 APN 15 79,603,372 (GRCm39) missense probably benign
IGL02796:Gtpbp1 UTSW 15 79,601,186 (GRCm39) missense possibly damaging 0.83
R0525:Gtpbp1 UTSW 15 79,597,648 (GRCm39) missense probably benign 0.09
R0531:Gtpbp1 UTSW 15 79,604,292 (GRCm39) missense probably damaging 1.00
R0535:Gtpbp1 UTSW 15 79,591,933 (GRCm39) missense probably damaging 1.00
R0665:Gtpbp1 UTSW 15 79,597,648 (GRCm39) missense probably benign 0.09
R0760:Gtpbp1 UTSW 15 79,603,356 (GRCm39) missense probably damaging 0.99
R0799:Gtpbp1 UTSW 15 79,600,401 (GRCm39) missense probably damaging 1.00
R1445:Gtpbp1 UTSW 15 79,597,649 (GRCm39) missense possibly damaging 0.82
R1458:Gtpbp1 UTSW 15 79,591,930 (GRCm39) missense probably damaging 1.00
R1462:Gtpbp1 UTSW 15 79,592,086 (GRCm39) missense probably damaging 1.00
R1462:Gtpbp1 UTSW 15 79,592,086 (GRCm39) missense probably damaging 1.00
R1498:Gtpbp1 UTSW 15 79,603,222 (GRCm39) splice site probably null
R1567:Gtpbp1 UTSW 15 79,596,391 (GRCm39) missense probably damaging 0.98
R3028:Gtpbp1 UTSW 15 79,600,080 (GRCm39) missense possibly damaging 0.64
R4431:Gtpbp1 UTSW 15 79,600,398 (GRCm39) missense probably damaging 1.00
R4583:Gtpbp1 UTSW 15 79,600,152 (GRCm39) missense possibly damaging 0.64
R4854:Gtpbp1 UTSW 15 79,603,406 (GRCm39) missense probably benign
R4925:Gtpbp1 UTSW 15 79,600,169 (GRCm39) missense probably benign 0.23
R5023:Gtpbp1 UTSW 15 79,603,422 (GRCm39) missense possibly damaging 0.49
R5052:Gtpbp1 UTSW 15 79,600,170 (GRCm39) missense probably damaging 1.00
R5695:Gtpbp1 UTSW 15 79,596,375 (GRCm39) splice site probably null
R6009:Gtpbp1 UTSW 15 79,596,297 (GRCm39) missense probably damaging 1.00
R6089:Gtpbp1 UTSW 15 79,591,198 (GRCm39) missense probably benign 0.15
R7088:Gtpbp1 UTSW 15 79,603,483 (GRCm39) missense
R7343:Gtpbp1 UTSW 15 79,575,243 (GRCm39) missense probably benign 0.03
R7383:Gtpbp1 UTSW 15 79,600,354 (GRCm39) missense probably damaging 1.00
R8747:Gtpbp1 UTSW 15 79,603,482 (GRCm39) missense
R8863:Gtpbp1 UTSW 15 79,591,262 (GRCm39) missense possibly damaging 0.51
R8914:Gtpbp1 UTSW 15 79,600,393 (GRCm39) missense probably damaging 1.00
R8962:Gtpbp1 UTSW 15 79,601,929 (GRCm39) missense probably benign 0.15
R9150:Gtpbp1 UTSW 15 79,592,165 (GRCm39) missense probably damaging 1.00
R9269:Gtpbp1 UTSW 15 79,601,855 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07