Incidental Mutation 'R5090:Gnpda1'
ID 387725
Institutional Source Beutler Lab
Gene Symbol Gnpda1
Ensembl Gene ENSMUSG00000052102
Gene Name glucosamine-6-phosphate deaminase 1
Synonyms Gnpi, glucose-6-phosphate isomerase, Gnp1, oscillin
MMRRC Submission 042679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5090 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 38460588-38472052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38465146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 157 (T157A)
Ref Sequence ENSEMBL: ENSMUSP00000069081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063814] [ENSMUST00000139885]
AlphaFold O88958
Predicted Effect probably damaging
Transcript: ENSMUST00000063814
AA Change: T157A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069081
Gene: ENSMUSG00000052102
AA Change: T157A

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 8 237 3.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129062
Predicted Effect probably benign
Transcript: ENSMUST00000139885
SMART Domains Protein: ENSMUSP00000115359
Gene: ENSMUSG00000052102

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 11 124 1.3e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153291
Meta Mutation Damage Score 0.9361 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 99% (66/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,984,422 (GRCm39) S1168G probably damaging Het
Acsf2 A T 11: 94,462,095 (GRCm39) probably null Het
Ankk1 G T 9: 49,333,063 (GRCm39) S140R probably damaging Het
Ash1l G T 3: 88,960,184 (GRCm39) K2305N probably damaging Het
Asnsd1 C T 1: 53,391,563 (GRCm39) probably benign Het
Atxn7l1 T C 12: 33,376,077 (GRCm39) S51P probably damaging Het
Ccdc88c A G 12: 100,920,439 (GRCm39) L394P probably damaging Het
Cd200r1 T A 16: 44,609,924 (GRCm39) S48T possibly damaging Het
Cemip T C 7: 83,591,343 (GRCm39) E1243G probably damaging Het
Cep192 T A 18: 67,993,617 (GRCm39) H1977Q possibly damaging Het
Cep250 T C 2: 155,818,324 (GRCm39) L833P probably damaging Het
Chd9 C A 8: 91,753,462 (GRCm39) Y1818* probably null Het
Clca3a1 C A 3: 144,443,633 (GRCm39) V706L probably benign Het
Cntln T C 4: 84,865,830 (GRCm39) V162A probably damaging Het
Col5a1 G A 2: 27,908,614 (GRCm39) W67* probably null Het
Cux1 T A 5: 136,342,054 (GRCm39) N446I possibly damaging Het
Dlg1 G T 16: 31,656,902 (GRCm39) G599W probably damaging Het
Dock7 C T 4: 98,879,648 (GRCm39) V969I probably benign Het
Ephb3 T C 16: 21,033,237 (GRCm39) C74R probably damaging Het
Fads6 T A 11: 115,187,480 (GRCm39) T72S probably benign Het
Fra10ac1 C T 19: 38,202,873 (GRCm39) R110Q probably damaging Het
Gdf3 T A 6: 122,586,713 (GRCm39) L71F probably benign Het
Gm6685 A G 11: 28,289,253 (GRCm39) Y188H probably benign Het
Gm6981 A C 9: 51,914,142 (GRCm39) noncoding transcript Het
Grap2 A C 15: 80,522,683 (GRCm39) N70H possibly damaging Het
Gvin3 T A 7: 106,200,109 (GRCm39) noncoding transcript Het
Hdac5 G A 11: 102,088,539 (GRCm39) R887C probably damaging Het
Hectd3 T A 4: 116,857,435 (GRCm39) probably benign Het
Hmgcr T C 13: 96,787,098 (GRCm39) K162E probably benign Het
Inpp5e A T 2: 26,289,383 (GRCm39) probably null Het
Kifap3 A G 1: 163,683,645 (GRCm39) D442G possibly damaging Het
Lama3 A G 18: 12,675,459 (GRCm39) T1015A possibly damaging Het
Lcp2 T A 11: 34,039,725 (GRCm39) Y508* probably null Het
Map1b G T 13: 99,566,534 (GRCm39) Y2062* probably null Het
Mipep A G 14: 61,039,748 (GRCm39) D259G possibly damaging Het
Mmp2 T C 8: 93,579,202 (GRCm39) F97S probably damaging Het
Mrpl18 A C 17: 13,132,697 (GRCm39) M144R probably damaging Het
Nek9 A G 12: 85,376,616 (GRCm39) probably null Het
Nmral1 A T 16: 4,532,395 (GRCm39) Y139N probably damaging Het
Notch4 T C 17: 34,799,894 (GRCm39) C952R probably damaging Het
Nsf T C 11: 103,801,404 (GRCm39) N204D probably benign Het
P2rx4 A T 5: 122,863,118 (GRCm39) D197V probably damaging Het
Pak5 A T 2: 135,929,338 (GRCm39) I615N probably damaging Het
Parp10 T C 15: 76,125,925 (GRCm39) D421G probably damaging Het
Pcdha6 A T 18: 37,101,770 (GRCm39) D321V probably benign Het
Pkhd1 T A 1: 20,270,981 (GRCm39) I3191F probably damaging Het
Psmd4 T C 3: 94,942,559 (GRCm39) N7S possibly damaging Het
Ptprq A G 10: 107,361,950 (GRCm39) V2084A probably damaging Het
Rab3gap1 A G 1: 127,843,415 (GRCm39) E263G probably benign Het
Rbm5 A G 9: 107,637,511 (GRCm39) probably benign Het
Sacs T C 14: 61,442,702 (GRCm39) F1583L probably damaging Het
Sel1l3 G T 5: 53,357,388 (GRCm39) H201Q probably benign Het
Shoc1 T C 4: 59,111,108 (GRCm39) T55A unknown Het
Tdpoz3 T A 3: 93,733,870 (GRCm39) W182R possibly damaging Het
Trim55 A G 3: 19,725,771 (GRCm39) N313S probably benign Het
Usp17lb A T 7: 104,490,290 (GRCm39) D212E probably benign Het
Xirp2 A G 2: 67,355,814 (GRCm39) E3525G possibly damaging Het
Zfp236 T C 18: 82,637,006 (GRCm39) T1379A probably benign Het
Zfp553 A T 7: 126,834,659 (GRCm39) E71D probably damaging Het
Znrf1 T G 8: 112,265,035 (GRCm39) F21V probably benign Het
Other mutations in Gnpda1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1564:Gnpda1 UTSW 18 38,471,142 (GRCm39) critical splice donor site probably null
R1771:Gnpda1 UTSW 18 38,466,380 (GRCm39) missense probably benign 0.00
R1917:Gnpda1 UTSW 18 38,466,243 (GRCm39) splice site probably null
R1918:Gnpda1 UTSW 18 38,466,243 (GRCm39) splice site probably null
R1919:Gnpda1 UTSW 18 38,466,243 (GRCm39) splice site probably null
R2108:Gnpda1 UTSW 18 38,466,243 (GRCm39) splice site probably null
R5524:Gnpda1 UTSW 18 38,468,161 (GRCm39) missense probably damaging 1.00
R7843:Gnpda1 UTSW 18 38,461,952 (GRCm39) missense probably benign
R8177:Gnpda1 UTSW 18 38,466,348 (GRCm39) missense possibly damaging 0.94
R8794:Gnpda1 UTSW 18 38,465,091 (GRCm39) missense probably benign 0.06
R9577:Gnpda1 UTSW 18 38,463,605 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAAGACTAGCTAGGAGTTTGGC -3'
(R):5'- TCACGTGCTTGAGGAAGATC -3'

Sequencing Primer
(F):5'- TGGCTTTATTTATCAAGAGTTCAGC -3'
(R):5'- GATCTGACCTAGTGTCCAATGAG -3'
Posted On 2016-06-06