Incidental Mutation 'IGL02389:Gnpnat1'
ID291699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnpnat1
Ensembl Gene ENSMUSG00000037722
Gene Nameglucosamine-phosphate N-acetyltransferase 1
SynonymsEMeg32
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02389
Quality Score
Status
Chromosome14
Chromosomal Location45376334-45404913 bp(-) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) A to G at 45380931 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000046191] [ENSMUST00000226276] [ENSMUST00000226590] [ENSMUST00000226785] [ENSMUST00000226856] [ENSMUST00000226873] [ENSMUST00000227468] [ENSMUST00000227865] [ENSMUST00000228003] [ENSMUST00000228304] [ENSMUST00000228311]
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 benign
Transcript: ENSMUST00000227865
Predicted Effect probably benign
Transcript: ENSMUST00000228003
Predicted Effect probably benign
Transcript: ENSMUST00000228304
Predicted Effect probably null
Transcript: ENSMUST00000228451
Predicted Effect probably benign
Transcript: ENSMUST00000228311
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 63,896,483 S11N probably null Het
Aqp9 T C 9: 71,122,906 I200V possibly damaging Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Cntn2 T C 1: 132,525,321 E411G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd3 A G 15: 73,567,056 D1091G probably damaging Het
Dock2 T C 11: 34,698,740 probably benign Het
Dscam T A 16: 96,640,897 I1577F probably benign Het
Egflam A T 15: 7,250,078 N482K probably benign Het
Fam216a T C 5: 122,367,511 T129A probably damaging Het
Fbxo40 T C 16: 36,969,774 M325V probably benign Het
Fbxw8 C T 5: 118,128,955 V148M possibly damaging Het
Fcgbp C T 7: 28,075,171 R57C probably damaging Het
Gria2 T C 3: 80,709,422 T408A probably benign Het
H2-T3 A G 17: 36,186,608 M59T probably benign Het
Jakmip1 C T 5: 37,100,843 Q278* probably null Het
Krtap21-1 C T 16: 89,403,424 G110D unknown Het
Myo7a C T 7: 98,106,991 probably null Het
Nlrp9c T A 7: 26,394,207 Q11L probably benign Het
Olfr1442 A T 19: 12,674,535 D110V probably benign Het
Olfr298 A G 7: 86,489,128 L141P probably damaging Het
Olfr767 A C 10: 129,079,230 I244M probably damaging Het
Olfr790 T A 10: 129,501,070 M62K probably benign Het
Pdzd8 A G 19: 59,301,393 I525T probably benign Het
Pign A T 1: 105,646,781 L280* probably null Het
Pik3r4 T G 9: 105,650,331 I294M possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Prmt3 C T 7: 49,848,758 Q471* probably null Het
Prrc2c A G 1: 162,692,870 F2006L probably damaging Het
Ptger3 C T 3: 157,567,171 R52C probably damaging Het
Rfx2 T C 17: 56,808,325 probably benign Het
Sh3bp4 T C 1: 89,145,148 F573L probably damaging Het
Slc18a2 G T 19: 59,263,301 probably benign Het
Slc26a8 T A 17: 28,638,650 I840F probably benign Het
Slc5a4b A T 10: 76,072,465 Y364* probably null Het
Slitrk1 A G 14: 108,912,322 I319T probably benign Het
Stxbp5l C T 16: 37,208,205 A499T probably benign Het
Tnks2 T A 19: 36,884,103 S951R probably benign Het
Trim30c A G 7: 104,382,174 F478S probably benign Het
Tyro3 C T 2: 119,804,864 probably benign Het
Vmn1r34 A T 6: 66,637,058 L232Q probably damaging Het
Zfp148 T A 16: 33,495,446 C215S probably damaging Het
Zzef1 T A 11: 72,899,538 V2106D possibly damaging Het
Zzef1 C T 11: 72,891,217 P1995S probably benign Het
Other mutations in Gnpnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1987:Gnpnat1 UTSW 14 45380998 missense probably damaging 1.00
R4654:Gnpnat1 UTSW 14 45380979 missense probably damaging 1.00
R6103:Gnpnat1 UTSW 14 45383399 missense probably damaging 1.00
R7395:Gnpnat1 UTSW 14 45381581 missense probably benign 0.05
R7603:Gnpnat1 UTSW 14 45384617 missense probably benign
R7852:Gnpnat1 UTSW 14 45384653 missense probably damaging 1.00
R8092:Gnpnat1 UTSW 14 45380931 splice site probably null
RF006:Gnpnat1 UTSW 14 45383443 splice site probably null
Posted On2015-04-16