Incidental Mutation 'R0414:Nagk'
ID 40161
Institutional Source Beutler Lab
Gene Symbol Nagk
Ensembl Gene ENSMUSG00000034744
Gene Name N-acetylglucosamine kinase
Synonyms GlcNAc kinase
MMRRC Submission 038616-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0414 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 83770810-83779538 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 83774249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 87 (R87*)
Ref Sequence ENSEMBL: ENSMUSP00000109482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037376] [ENSMUST00000113850] [ENSMUST00000113851]
AlphaFold Q9QZ08
Predicted Effect probably null
Transcript: ENSMUST00000037376
AA Change: R69*
SMART Domains Protein: ENSMUSP00000042026
Gene: ENSMUSG00000034744
AA Change: R69*

DomainStartEndE-ValueType
Pfam:BcrAD_BadFG 6 294 6.4e-60 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113850
AA Change: R69*
SMART Domains Protein: ENSMUSP00000109481
Gene: ENSMUSG00000034744
AA Change: R69*

DomainStartEndE-ValueType
Pfam:BcrAD_BadFG 6 233 5.5e-46 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113851
AA Change: R87*
SMART Domains Protein: ENSMUSP00000109482
Gene: ENSMUSG00000034744
AA Change: R87*

DomainStartEndE-ValueType
Pfam:BcrAD_BadFG 28 302 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205599
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 96% (64/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik A T 5: 103,797,356 (GRCm39) V51E probably benign Het
Abo T C 2: 26,733,428 (GRCm39) Y259C probably damaging Het
Adamts5 A G 16: 85,674,794 (GRCm39) S457P probably damaging Het
Alk G T 17: 72,206,281 (GRCm39) probably benign Het
Alpk2 A G 18: 65,439,230 (GRCm39) I1188T probably benign Het
Ambra1 T C 2: 91,706,084 (GRCm39) S730P possibly damaging Het
Arhgef2 T C 3: 88,539,575 (GRCm39) probably benign Het
Atpsckmt T A 15: 31,617,148 (GRCm39) Y126* probably null Het
B3gnt7 T C 1: 86,233,351 (GRCm39) I82T probably damaging Het
B4galnt3 T C 6: 120,193,526 (GRCm39) D400G probably benign Het
Bag4 A G 8: 26,258,025 (GRCm39) V434A possibly damaging Het
Cfap251 A G 5: 123,425,476 (GRCm39) probably null Het
Cfc1 A G 1: 34,576,409 (GRCm39) D130G probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clec2m T C 6: 129,303,813 (GRCm39) probably benign Het
Crybg2 GAGAAGAAG GAGAAG 4: 133,799,947 (GRCm39) probably benign Het
Dnah2 T C 11: 69,390,064 (GRCm39) D727G probably benign Het
Dock10 C A 1: 80,513,650 (GRCm39) V1129F possibly damaging Het
Dsc1 A T 18: 20,221,411 (GRCm39) I688N possibly damaging Het
Dyrk1a C G 16: 94,464,701 (GRCm39) T103R probably damaging Het
Ebf1 C T 11: 44,815,297 (GRCm39) R304* probably null Het
Eif2s2 A G 2: 154,726,381 (GRCm39) probably benign Het
Endov T G 11: 119,390,397 (GRCm39) Y8* probably null Het
Eps15 T A 4: 109,223,677 (GRCm39) D485E probably damaging Het
Fam118a C A 15: 84,929,890 (GRCm39) S39R probably damaging Het
Fbxo22 T A 9: 55,130,910 (GRCm39) M393K possibly damaging Het
Firrm T C 1: 163,795,890 (GRCm39) I434V probably benign Het
Gab1 A G 8: 81,526,918 (GRCm39) I60T probably damaging Het
Gapvd1 A G 2: 34,583,439 (GRCm39) L1059P probably benign Het
Gbp5 A G 3: 142,213,674 (GRCm39) probably null Het
Glb1l2 T A 9: 26,676,400 (GRCm39) K487* probably null Het
H1f1 A G 13: 23,948,141 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,591,573 (GRCm39) I1875M possibly damaging Het
Jkamp T C 12: 72,140,919 (GRCm39) probably null Het
Kprp C T 3: 92,733,020 (GRCm39) C10Y probably damaging Het
Lrig2 A G 3: 104,401,372 (GRCm39) probably null Het
Lrrn3 T A 12: 41,503,939 (GRCm39) N126I probably damaging Het
Mug1 T C 6: 121,833,513 (GRCm39) F325L probably benign Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Nipal4 T A 11: 46,052,735 (GRCm39) I77F probably damaging Het
Or4c112 A G 2: 88,853,490 (GRCm39) Y286H probably damaging Het
Osbp2 T C 11: 3,769,932 (GRCm39) H250R probably damaging Het
Pcx T C 19: 4,657,670 (GRCm39) V378A possibly damaging Het
Pfkp T A 13: 6,643,246 (GRCm39) H524L probably benign Het
Picalm A T 7: 89,838,406 (GRCm39) N370I possibly damaging Het
Plcl2 A C 17: 50,914,983 (GRCm39) D664A possibly damaging Het
Ptpn5 G A 7: 46,732,884 (GRCm39) P320S probably benign Het
Scn3a T A 2: 65,356,326 (GRCm39) probably benign Het
Sfswap A G 5: 129,581,115 (GRCm39) D96G possibly damaging Het
Slfn1 A G 11: 83,012,096 (GRCm39) I71V probably benign Het
Spata1 A G 3: 146,181,943 (GRCm39) probably null Het
Stx18 T C 5: 38,262,349 (GRCm39) probably benign Het
Suox T A 10: 128,507,326 (GRCm39) H234L probably benign Het
Tbc1d17 T C 7: 44,495,483 (GRCm39) S114G probably benign Het
Tfeb T A 17: 48,099,224 (GRCm39) probably null Het
Tnks A C 8: 35,320,463 (GRCm39) V736G probably damaging Het
Wdhd1 T C 14: 47,514,045 (GRCm39) T4A probably benign Het
Other mutations in Nagk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Nagk APN 6 83,776,352 (GRCm39) missense probably damaging 0.98
IGL02167:Nagk APN 6 83,778,088 (GRCm39) missense probably damaging 0.98
R1809:Nagk UTSW 6 83,774,169 (GRCm39) missense probably benign 0.01
R1901:Nagk UTSW 6 83,776,336 (GRCm39) missense probably damaging 1.00
R3837:Nagk UTSW 6 83,778,139 (GRCm39) missense possibly damaging 0.84
R4382:Nagk UTSW 6 83,774,993 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTTAGTAGCTGATAGGGGCAGCAC -3'
(R):5'- GTGAAGCAAACAGCTTGGCTTGAC -3'

Sequencing Primer
(F):5'- ACAGATCCTGCAAGCCTTTC -3'
(R):5'- tttctcaacaactcttagtatctgtc -3'
Posted On 2013-05-23