Incidental Mutation 'R5023:Gtpbp1'
ID 391171
Institutional Source Beutler Lab
Gene Symbol Gtpbp1
Ensembl Gene ENSMUSG00000042535
Gene Name GTP binding protein 1
Synonyms GP-1, GTPBP1
MMRRC Submission 042614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5023 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79690845-79721479 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79719221 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 637 (Q637L)
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 possibly damaging
Transcript: ENSMUST00000046463
AA Change: Q637L

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: Q637L

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 probably benign
Transcript: ENSMUST00000228991
AA Change: Q169L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000229583
AA Change: Q162L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230496
Predicted Effect probably benign
Transcript: ENSMUST00000231095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231189
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (127/129)
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: 124 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,166,755 (GRCm38) H739Q probably benign Het
Abca3 C T 17: 24,374,300 (GRCm38) R224C probably damaging Het
Abca8b A G 11: 109,974,988 (GRCm38) probably null Het
Adam1b C T 5: 121,501,159 (GRCm38) V608M probably damaging Het
Ank2 A G 3: 126,941,871 (GRCm38) probably benign Het
Ankrd17 A C 5: 90,282,868 (GRCm38) L1019R probably damaging Het
Arih1 T C 9: 59,486,232 (GRCm38) N39S unknown Het
Best3 G A 10: 116,988,742 (GRCm38) V38I probably benign Het
Bicc1 A G 10: 70,947,883 (GRCm38) S393P possibly damaging Het
C1d T A 11: 17,266,674 (GRCm38) N135K probably benign Het
Cage1 G T 13: 38,011,411 (GRCm38) S778* probably null Het
Capn7 T A 14: 31,352,426 (GRCm38) V262E probably damaging Het
Ccdc190 A G 1: 169,933,087 (GRCm38) R95G probably damaging Het
Cd163 C T 6: 124,325,288 (GRCm38) T937I probably damaging Het
Cdh18 G A 15: 23,259,666 (GRCm38) S194N probably damaging Het
Clec4b2 A T 6: 123,200,956 (GRCm38) S77C probably null Het
Ctsw T A 19: 5,466,049 (GRCm38) D237V probably damaging Het
Cyp2c68 G A 19: 39,712,507 (GRCm38) T289I probably benign Het
Cyp4f39 A G 17: 32,481,104 (GRCm38) Y133C probably damaging Het
Dlg5 T C 14: 24,136,622 (GRCm38) E1847G probably damaging Het
Dnah7a C A 1: 53,647,248 (GRCm38) E248* probably null Het
Eef2kmt T A 16: 5,247,599 (GRCm38) D248V probably damaging Het
Ewsr1 T C 11: 5,088,054 (GRCm38) T113A possibly damaging Het
Fbxo4 A G 15: 3,977,756 (GRCm38) probably null Het
Fbxo43 A T 15: 36,162,929 (GRCm38) M44K probably benign Het
Fchsd1 A G 18: 37,964,810 (GRCm38) I340T possibly damaging Het
Fgf5 C A 5: 98,262,015 (GRCm38) A141E probably damaging Het
Gfm1 T C 3: 67,473,544 (GRCm38) V664A probably damaging Het
Glp2r T C 11: 67,741,032 (GRCm38) T121A possibly damaging Het
Gm10803 A C 2: 93,564,172 (GRCm38) L96F probably damaging Het
Gm12169 T A 11: 46,528,532 (GRCm38) D58E probably damaging Het
Gm14569 T C X: 36,430,817 (GRCm38) D1413G probably benign Het
Gm15455 T C 1: 33,837,351 (GRCm38) noncoding transcript Het
Gm1818 G C 12: 48,555,535 (GRCm38) noncoding transcript Het
Gm4907 G A X: 23,907,241 (GRCm38) G327E probably damaging Het
Gm5155 A T 7: 17,902,706 (GRCm38) D236V probably damaging Het
Gm7030 A G 17: 36,109,415 (GRCm38) probably benign Het
Gnb2 G A 5: 137,529,940 (GRCm38) probably null Het
Gpc4 G A X: 52,074,563 (GRCm38) R148C probably damaging Het
Gpx5 C T 13: 21,288,745 (GRCm38) V140I probably damaging Het
Herc1 A T 9: 66,470,326 (GRCm38) K3458M possibly damaging Het
Hhat A T 1: 192,727,339 (GRCm38) L138Q probably damaging Het
Hipk1 G T 3: 103,777,507 (GRCm38) T264N probably damaging Het
Hjurp A T 1: 88,275,050 (GRCm38) Y71N possibly damaging Het
Hnf4g G T 3: 3,644,587 (GRCm38) A144S probably damaging Het
Hook3 TAGAG TAG 8: 26,032,019 (GRCm38) probably null Het
Ifi204 G A 1: 173,751,740 (GRCm38) T513I possibly damaging Het
Ino80b G T 6: 83,125,042 (GRCm38) S26R probably damaging Het
Ints9 T A 14: 64,980,228 (GRCm38) L68H probably damaging Het
Isx C T 8: 74,892,714 (GRCm38) T178I probably benign Het
Kel A G 6: 41,688,111 (GRCm38) L255P probably damaging Het
Klf11 T A 12: 24,655,359 (GRCm38) S271T probably benign Het
Klhl20 A C 1: 161,109,220 (GRCm38) probably null Het
Lama2 G A 10: 27,190,504 (GRCm38) T1127I probably damaging Het
Larp1b T A 3: 41,033,985 (GRCm38) N81K possibly damaging Het
Lsm11 T C 11: 45,944,839 (GRCm38) D25G probably damaging Het
Map3k20 T A 2: 72,402,345 (GRCm38) probably benign Het
Mbd6 C T 10: 127,286,441 (GRCm38) V173I probably benign Het
Milr1 A G 11: 106,766,965 (GRCm38) D131G possibly damaging Het
Mybpc1 T G 10: 88,543,774 (GRCm38) D635A probably damaging Het
Myh7b G C 2: 155,632,373 (GRCm38) R1669S possibly damaging Het
Ndufa7 A G 17: 33,824,603 (GRCm38) probably benign Het
Ndufs3 C A 2: 90,898,660 (GRCm38) A161S probably benign Het
Neo1 T C 9: 58,990,271 (GRCm38) D134G probably damaging Het
Nme4 G A 17: 26,093,668 (GRCm38) T129I probably benign Het
Npffr2 A T 5: 89,582,687 (GRCm38) T159S probably benign Het
Nup153 A T 13: 46,681,109 (GRCm38) probably benign Het
Olfr139 T A 11: 74,045,055 (GRCm38) D73V probably damaging Het
Olfr616 A C 7: 103,565,171 (GRCm38) M36R possibly damaging Het
Pate2 T C 9: 35,686,111 (GRCm38) probably benign Het
Pcca A G 14: 122,790,398 (GRCm38) N73D probably damaging Het
Pip5k1c G A 10: 81,310,889 (GRCm38) probably null Het
Pkhd1l1 A T 15: 44,528,191 (GRCm38) H1551L probably benign Het
Pkhd1l1 G A 15: 44,582,227 (GRCm38) M3768I probably benign Het
Ppa2 A G 3: 133,370,434 (GRCm38) M275V probably benign Het
Ptpn23 G A 9: 110,388,556 (GRCm38) T744I probably benign Het
Ptprv A T 1: 135,124,506 (GRCm38) noncoding transcript Het
Rad17 A T 13: 100,645,063 (GRCm38) H75Q possibly damaging Het
Rbm44 T C 1: 91,169,098 (GRCm38) probably null Het
Rbpj C T 5: 53,649,415 (GRCm38) R201W probably damaging Het
Rbpjl C A 2: 164,410,289 (GRCm38) L215I probably damaging Het
Ror1 A G 4: 100,425,932 (GRCm38) E398G probably benign Het
Scamp3 T A 3: 89,182,293 (GRCm38) probably benign Het
Selenot CATGTATG CATGTATGTATG 3: 58,588,453 (GRCm38) probably null Het
Siglec15 A G 18: 78,048,675 (GRCm38) C104R probably damaging Het
Sis T C 3: 72,934,122 (GRCm38) I787V probably benign Het
Slc17a8 T C 10: 89,576,560 (GRCm38) D521G probably benign Het
Slc7a10 T A 7: 35,197,355 (GRCm38) M172K possibly damaging Het
Slco4c1 G A 1: 96,841,228 (GRCm38) P303L probably damaging Het
Slitrk3 T C 3: 73,050,648 (GRCm38) T264A probably benign Het
Smg8 A C 11: 87,086,137 (GRCm38) V206G probably damaging Het
Smg9 A G 7: 24,405,872 (GRCm38) K137R possibly damaging Het
Srrm2 C A 17: 23,819,317 (GRCm38) probably benign Het
Sult2a2 T A 7: 13,734,860 (GRCm38) Y84N possibly damaging Het
Syngr2 A T 11: 117,812,510 (GRCm38) I34F probably benign Het
Tank G A 2: 61,578,635 (GRCm38) probably benign Het
Tead4 T C 6: 128,294,171 (GRCm38) probably benign Het
Tex36 A T 7: 133,595,290 (GRCm38) C33S probably benign Het
Timm21 C A 18: 84,949,414 (GRCm38) V112L possibly damaging Het
Tmem240 T A 4: 155,739,674 (GRCm38) L92Q probably damaging Het
Tmem268 C G 4: 63,568,540 (GRCm38) S100C probably damaging Het
Tmod3 G A 9: 75,511,206 (GRCm38) P183S probably damaging Het
Trappc10 G T 10: 78,217,160 (GRCm38) F260L possibly damaging Het
Trim16 A T 11: 62,836,812 (GRCm38) Y233F probably benign Het
Trmt112 T C 19: 6,910,753 (GRCm38) V91A probably benign Het
Ttc3 A G 16: 94,429,359 (GRCm38) E450G probably benign Het
Ttk A G 9: 83,863,541 (GRCm38) D647G probably damaging Het
Ubash3b A G 9: 41,037,459 (GRCm38) C187R possibly damaging Het
Vmn1r29 T A 6: 58,308,067 (GRCm38) Y257* probably null Het
Vmn1r33 T C 6: 66,612,105 (GRCm38) N155S probably benign Het
Vmn2r28 T A 7: 5,486,464 (GRCm38) I459L probably benign Het
Vps16 A G 2: 130,439,452 (GRCm38) S235G probably benign Het
Vwde T C 6: 13,192,642 (GRCm38) I421V possibly damaging Het
Xiap T C X: 42,094,465 (GRCm38) F23L probably benign Het
Xkr7 A G 2: 153,054,380 (GRCm38) T385A probably benign Het
Zbtb11 A G 16: 56,006,065 (GRCm38) Y819C probably damaging Het
Zfp112 A G 7: 24,126,484 (GRCm38) T624A probably damaging Het
Zfp592 A G 7: 81,024,347 (GRCm38) D353G probably damaging Het
Zfp62 T A 11: 49,215,729 (GRCm38) S216T probably damaging Het
Zfp677 A T 17: 21,397,794 (GRCm38) H371L probably damaging Het
Zfp780b T C 7: 27,963,448 (GRCm38) K561E possibly damaging Het
Zfp936 G A 7: 43,187,257 (GRCm38) D31N probably damaging Het
Znfx1 T C 2: 167,039,826 (GRCm38) Y217C probably damaging Het
Zpbp C T 11: 11,415,248 (GRCm38) E200K probably benign Het
Other mutations in Gtpbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Gtpbp1 APN 15 79,719,136 (GRCm38) missense possibly damaging 0.90
IGL01783:Gtpbp1 APN 15 79,716,197 (GRCm38) missense probably damaging 1.00
IGL01794:Gtpbp1 APN 15 79,716,246 (GRCm38) missense probably damaging 1.00
IGL01859:Gtpbp1 APN 15 79,719,140 (GRCm38) missense probably benign
IGL02245:Gtpbp1 APN 15 79,690,926 (GRCm38) missense probably benign 0.02
IGL02532:Gtpbp1 APN 15 79,720,077 (GRCm38) missense probably benign 0.05
IGL02730:Gtpbp1 APN 15 79,719,171 (GRCm38) missense probably benign
IGL02796:Gtpbp1 UTSW 15 79,716,985 (GRCm38) missense possibly damaging 0.83
R0525:Gtpbp1 UTSW 15 79,713,447 (GRCm38) missense probably benign 0.09
R0531:Gtpbp1 UTSW 15 79,720,091 (GRCm38) missense probably damaging 1.00
R0535:Gtpbp1 UTSW 15 79,707,732 (GRCm38) missense probably damaging 1.00
R0665:Gtpbp1 UTSW 15 79,713,447 (GRCm38) missense probably benign 0.09
R0760:Gtpbp1 UTSW 15 79,719,155 (GRCm38) missense probably damaging 0.99
R0799:Gtpbp1 UTSW 15 79,716,200 (GRCm38) missense probably damaging 1.00
R1445:Gtpbp1 UTSW 15 79,713,448 (GRCm38) missense possibly damaging 0.82
R1458:Gtpbp1 UTSW 15 79,707,729 (GRCm38) missense probably damaging 1.00
R1462:Gtpbp1 UTSW 15 79,707,885 (GRCm38) missense probably damaging 1.00
R1462:Gtpbp1 UTSW 15 79,707,885 (GRCm38) missense probably damaging 1.00
R1498:Gtpbp1 UTSW 15 79,719,021 (GRCm38) splice site probably null
R1567:Gtpbp1 UTSW 15 79,712,190 (GRCm38) missense probably damaging 0.98
R3028:Gtpbp1 UTSW 15 79,715,879 (GRCm38) missense possibly damaging 0.64
R4431:Gtpbp1 UTSW 15 79,716,197 (GRCm38) missense probably damaging 1.00
R4583:Gtpbp1 UTSW 15 79,715,951 (GRCm38) missense possibly damaging 0.64
R4854:Gtpbp1 UTSW 15 79,719,205 (GRCm38) missense probably benign
R4925:Gtpbp1 UTSW 15 79,715,968 (GRCm38) missense probably benign 0.23
R5052:Gtpbp1 UTSW 15 79,715,969 (GRCm38) missense probably damaging 1.00
R5695:Gtpbp1 UTSW 15 79,712,174 (GRCm38) splice site probably null
R6009:Gtpbp1 UTSW 15 79,712,096 (GRCm38) missense probably damaging 1.00
R6089:Gtpbp1 UTSW 15 79,706,997 (GRCm38) missense probably benign 0.15
R7088:Gtpbp1 UTSW 15 79,719,282 (GRCm38) missense
R7343:Gtpbp1 UTSW 15 79,691,042 (GRCm38) missense probably benign 0.03
R7383:Gtpbp1 UTSW 15 79,716,153 (GRCm38) missense probably damaging 1.00
R8747:Gtpbp1 UTSW 15 79,719,281 (GRCm38) missense
R8863:Gtpbp1 UTSW 15 79,707,061 (GRCm38) missense possibly damaging 0.51
R8914:Gtpbp1 UTSW 15 79,716,192 (GRCm38) missense probably damaging 1.00
R8962:Gtpbp1 UTSW 15 79,717,728 (GRCm38) missense probably benign 0.15
R9150:Gtpbp1 UTSW 15 79,707,964 (GRCm38) missense probably damaging 1.00
R9269:Gtpbp1 UTSW 15 79,717,654 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCTCAGACTTCATGCTACC -3'
(R):5'- TCTTAGCTGCATTGGGCCTC -3'

Sequencing Primer
(F):5'- AGACTTCATGCTACCTACTTGG -3'
(R):5'- GCCTACATAGTGAATTTCAGGCCAG -3'
Posted On 2016-06-06