Incidental Mutation 'R8092:Gnpnat1'
ID 629954
Institutional Source Beutler Lab
Gene Symbol Gnpnat1
Ensembl Gene ENSMUSG00000037722
Gene Name glucosamine-phosphate N-acetyltransferase 1
Synonyms EMeg32
MMRRC Submission 067524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8092 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 45613897-45626972 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 45618388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000046191] [ENSMUST00000226276] [ENSMUST00000226590] [ENSMUST00000226785] [ENSMUST00000226856] [ENSMUST00000226873] [ENSMUST00000227468] [ENSMUST00000228304] [ENSMUST00000228003] [ENSMUST00000228311] [ENSMUST00000227865]
AlphaFold Q9JK38
Predicted Effect probably null
Transcript: ENSMUST00000046191
SMART Domains Protein: ENSMUSP00000042860
Gene: ENSMUSG00000037722

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 82 172 8e-9 PFAM
Pfam:Acetyltransf_1 91 171 6.3e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000226276
Predicted Effect probably benign
Transcript: ENSMUST00000226590
Predicted Effect probably benign
Transcript: ENSMUST00000226785
Predicted Effect probably benign
Transcript: ENSMUST00000226856
Predicted Effect probably benign
Transcript: ENSMUST00000226873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226973
Predicted Effect probably null
Transcript: ENSMUST00000227468
Predicted Effect probably null
Transcript: ENSMUST00000228451
Predicted Effect probably benign
Transcript: ENSMUST00000228304
Predicted Effect probably benign
Transcript: ENSMUST00000228003
Predicted Effect probably benign
Transcript: ENSMUST00000228311
Predicted Effect probably benign
Transcript: ENSMUST00000227865
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 100% (40/40)
MGI Phenotype PHENOTYPE: Mutation of this gene result in homozygous lethality by E7.5 with various developmental defects observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T C 12: 88,427,831 (GRCm39) S483P possibly damaging Het
Agr3 T A 12: 35,997,593 (GRCm39) probably null Het
Anxa4 T C 6: 86,718,873 (GRCm39) D282G probably damaging Het
Aplp2 A C 9: 31,074,640 (GRCm39) probably null Het
Arfgef2 G A 2: 166,701,754 (GRCm39) V714M probably damaging Het
Cep295 A T 9: 15,244,278 (GRCm39) F1393I probably benign Het
Cfap206 G A 4: 34,728,897 (GRCm39) P3S possibly damaging Het
Chd5 T A 4: 152,463,261 (GRCm39) D1410E probably damaging Het
Chd8 T C 14: 52,455,184 (GRCm39) Y1101C probably damaging Het
Chtf8 A G 8: 107,612,938 (GRCm39) V121A possibly damaging Het
Dnajc3 A T 14: 119,207,994 (GRCm39) probably null Het
Dpys C T 15: 39,710,010 (GRCm39) D140N probably benign Het
Dsg1c A G 18: 20,415,029 (GRCm39) Y642C probably damaging Het
Eif2ak4 G A 2: 118,272,513 (GRCm39) V901I probably damaging Het
Gm45861 T C 8: 28,057,823 (GRCm39) M1127T unknown Het
Hsd3b6 T A 3: 98,713,456 (GRCm39) D281V possibly damaging Het
Kng2 T A 16: 22,806,672 (GRCm39) Q509L probably benign Het
Lipo2 A T 19: 33,726,880 (GRCm39) D52E probably benign Het
Ly6g6c A G 17: 35,287,867 (GRCm39) Y27C probably damaging Het
Mcc G A 18: 44,892,299 (GRCm39) T105I probably benign Het
Neurl4 A G 11: 69,801,891 (GRCm39) K1279E probably benign Het
Ntmt2 A G 1: 163,544,819 (GRCm39) Y55H probably damaging Het
Ntn4 A C 10: 93,576,918 (GRCm39) K529Q probably damaging Het
Or4f57 C A 2: 111,790,652 (GRCm39) M255I probably benign Het
P2ry14 C T 3: 59,022,867 (GRCm39) V198M probably damaging Het
Pclo T A 5: 14,727,560 (GRCm39) D2139E unknown Het
Plxnb1 T A 9: 108,929,573 (GRCm39) V143E probably damaging Het
Prune2 G T 19: 17,097,357 (GRCm39) D954Y probably damaging Het
Qrsl1 G A 10: 43,760,749 (GRCm39) P278L probably damaging Het
Rnf17 C T 14: 56,724,479 (GRCm39) R1108C probably benign Het
Sipa1l2 T C 8: 126,145,907 (GRCm39) S1716G probably benign Het
Slfn4 A T 11: 83,079,831 (GRCm39) H507L probably benign Het
Snx18 T C 13: 113,753,685 (GRCm39) E416G probably damaging Het
Srp9 T C 1: 181,959,001 (GRCm39) V81A probably benign Het
Tex101 G A 7: 24,369,778 (GRCm39) T62M probably damaging Het
Utp25 G A 1: 192,802,671 (GRCm39) L349F probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Zbtb42 G T 12: 112,646,275 (GRCm39) C150F probably damaging Het
Other mutations in Gnpnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02389:Gnpnat1 APN 14 45,618,388 (GRCm39) splice site probably null
R1987:Gnpnat1 UTSW 14 45,618,455 (GRCm39) missense probably damaging 1.00
R4654:Gnpnat1 UTSW 14 45,618,436 (GRCm39) missense probably damaging 1.00
R6103:Gnpnat1 UTSW 14 45,620,856 (GRCm39) missense probably damaging 1.00
R7395:Gnpnat1 UTSW 14 45,619,038 (GRCm39) missense probably benign 0.05
R7603:Gnpnat1 UTSW 14 45,622,074 (GRCm39) missense probably benign
R7852:Gnpnat1 UTSW 14 45,622,110 (GRCm39) missense probably damaging 1.00
RF006:Gnpnat1 UTSW 14 45,620,900 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AGCAGAACACTACTTGCCTAGC -3'
(R):5'- GGAGAAACTGATTTTCCTGTTTCC -3'

Sequencing Primer
(F):5'- CACTACTTGCCTAGCATGTTAGAG -3'
(R):5'- TTCCTGTTTCCTCTGTGAAAAAG -3'
Posted On 2020-06-30