Incidental Mutation 'R9577:Gnpda1'
ID 722385
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9577 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 38460588-38472052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38463605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 235 (T235A)
Ref Sequence ENSEMBL: ENSMUSP00000069081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063814] [ENSMUST00000139885]
AlphaFold O88958
Predicted Effect probably benign
Transcript: ENSMUST00000063814
AA Change: T235A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069081
Gene: ENSMUSG00000052102
AA Change: T235A

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

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 11 124 1.3e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik G T 18: 24,608,663 (GRCm39) A128S probably benign Het
Abca14 T C 7: 119,810,768 (GRCm39) Y116H probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ankar C A 1: 72,721,067 (GRCm39) V464L probably benign Het
Arap2 A T 5: 62,769,060 (GRCm39) I1526N probably damaging Het
Atad5 T A 11: 80,004,996 (GRCm39) N1144K probably damaging Het
B3gntl1 T C 11: 121,515,040 (GRCm39) T243A probably benign Het
Baz2b T C 2: 59,809,031 (GRCm39) T73A probably benign Het
Bnip5 A T 17: 29,128,382 (GRCm39) I177K probably benign Het
Brms1l A G 12: 55,906,876 (GRCm39) S148G probably damaging Het
Btnl1 A G 17: 34,603,335 (GRCm39) D332G probably benign Het
Card9 T A 2: 26,242,344 (GRCm39) T531S probably damaging Het
Ccdc71 C T 9: 108,340,472 (GRCm39) A95V possibly damaging Het
Cdh23 A G 10: 60,146,895 (GRCm39) V2787A probably damaging Het
Chd7 A G 4: 8,752,964 (GRCm39) E487G unknown Het
Col22a1 T C 15: 71,837,595 (GRCm39) K505R probably damaging Het
Dennd1b T C 1: 139,018,196 (GRCm39) V180A Het
Dmxl2 A G 9: 54,323,664 (GRCm39) V1066A unknown Het
Dnah9 C T 11: 65,867,347 (GRCm39) V2744M probably benign Het
Fam83e G T 7: 45,376,439 (GRCm39) R384L possibly damaging Het
Fbxo42 T A 4: 140,907,743 (GRCm39) Y134* probably null Het
Fmn1 C T 2: 113,194,470 (GRCm39) P57S unknown Het
Gm6309 T C 5: 146,105,700 (GRCm39) R155G possibly damaging Het
Gsdmc2 T A 15: 63,696,906 (GRCm39) I422F probably damaging Het
Itfg1 A G 8: 86,502,798 (GRCm39) V256A probably benign Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Kif14 T C 1: 136,399,138 (GRCm39) V433A probably benign Het
Kif3a T C 11: 53,475,231 (GRCm39) F363S probably damaging Het
Lman2l T C 1: 36,467,490 (GRCm39) D186G probably damaging Het
Lmntd2 T C 7: 140,790,990 (GRCm39) T448A probably benign Het
Magi2 C T 5: 20,814,282 (GRCm39) A898V probably damaging Het
Mri1 A G 8: 84,982,929 (GRCm39) V164A probably damaging Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Nxpe2 G A 9: 48,237,632 (GRCm39) R208* probably null Het
Or1j1 C A 2: 36,702,567 (GRCm39) C179F probably damaging Het
Or8g28 A G 9: 39,169,737 (GRCm39) V77A possibly damaging Het
Pcdha12 C T 18: 37,155,126 (GRCm39) A615V probably benign Het
Pou4f3 C G 18: 42,528,563 (GRCm39) P169A probably benign Het
Pramel52-ps A T 5: 94,531,805 (GRCm39) R230* probably null Het
Prss36 T C 7: 127,533,673 (GRCm39) I556V probably benign Het
Psg23 A T 7: 18,346,067 (GRCm39) D209E probably benign Het
Ptpn13 C A 5: 103,676,675 (GRCm39) D679E probably damaging Het
Ptprz1 G T 6: 23,002,202 (GRCm39) D1431Y probably damaging Het
Sdccag8 T A 1: 176,658,629 (GRCm39) L143M probably damaging Het
Shroom1 A G 11: 53,357,612 (GRCm39) Q721R probably benign Het
Spdye4b A G 5: 143,182,055 (GRCm39) M118V probably damaging Het
Tbc1d1 T A 5: 64,473,699 (GRCm39) S741T possibly damaging Het
Tbx18 A G 9: 87,611,512 (GRCm39) probably null Het
Tm9sf4 T C 2: 153,037,294 (GRCm39) F385S probably benign Het
Trpm4 A T 7: 44,954,432 (GRCm39) L1133* probably null Het
Trpm5 A G 7: 142,633,131 (GRCm39) probably null Het
Ube4b A G 4: 149,468,231 (GRCm39) S182P possibly damaging Het
Ugt2b36 T C 5: 87,228,784 (GRCm39) T420A probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Zc3h6 T A 2: 128,858,102 (GRCm39) I711K Het
Zer1 T C 2: 29,991,050 (GRCm39) Y726C probably damaging 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
R5090:Gnpda1 UTSW 18 38,465,146 (GRCm39) missense probably damaging 0.98
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
Predicted Primers PCR Primer
(F):5'- CAGAATAGCTGGGCATGGTG -3'
(R):5'- CTTGCAATGCTGTGATCCTGAAG -3'

Sequencing Primer
(F):5'- TTCAAAGCTAGTTCCAGGTCAGC -3'
(R):5'- TCCTGAAGGAGAGCTGACAAG -3'
Posted On 2022-08-09