Incidental Mutation 'IGL03324:Naa10'
ID 416597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naa10
Ensembl Gene ENSMUSG00000031388
Gene Name N(alpha)-acetyltransferase 10, NatA catalytic subunit
Synonyms Ard1a, Te2, 2310039H09Rik, Ard1
Accession Numbers
Essential gene? Not available question?
Stock # IGL03324
Quality Score
Status
Chromosome X
Chromosomal Location 72960479-72965550 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 72963568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033763] [ENSMUST00000096316] [ENSMUST00000114379] [ENSMUST00000114387] [ENSMUST00000114389] [ENSMUST00000114390] [ENSMUST00000114391] [ENSMUST00000155597] [ENSMUST00000116578]
AlphaFold Q9QY36
Predicted Effect probably null
Transcript: ENSMUST00000033763
SMART Domains Protein: ENSMUSP00000033763
Gene: ENSMUSG00000031388

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 40 125 2.9e-9 PFAM
Pfam:Acetyltransf_1 46 129 7.1e-18 PFAM
Pfam:FR47 56 137 1.2e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000096316
SMART Domains Protein: ENSMUSP00000094040
Gene: ENSMUSG00000031388

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 32 125 3.3e-7 PFAM
Pfam:Acetyltransf_7 40 129 6.5e-9 PFAM
Pfam:Acetyltransf_1 46 129 7.8e-18 PFAM
Pfam:FR47 55 137 1.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114379
SMART Domains Protein: ENSMUSP00000110020
Gene: ENSMUSG00000031387

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
Pfam:GlcNAc_2-epim 58 383 1.8e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114387
SMART Domains Protein: ENSMUSP00000110029
Gene: ENSMUSG00000031388

DomainStartEndE-ValueType
Pfam:Acetyltransf_4 23 147 2.1e-6 PFAM
Pfam:Acetyltransf_10 31 125 2e-7 PFAM
Pfam:Acetyltransf_7 40 129 4.1e-9 PFAM
Pfam:Acetyltransf_1 46 129 5e-18 PFAM
Pfam:FR47 54 137 1.1e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114389
SMART Domains Protein: ENSMUSP00000110031
Gene: ENSMUSG00000031388

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 32 125 5.5e-8 PFAM
Pfam:Acetyltransf_7 40 129 1.6e-9 PFAM
Pfam:Acetyltransf_1 46 129 1.7e-18 PFAM
Pfam:FR47 55 137 3.8e-10 PFAM
low complexity region 179 196 N/A INTRINSIC
low complexity region 202 216 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114390
SMART Domains Protein: ENSMUSP00000110032
Gene: ENSMUSG00000031388

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 33 123 2.2e-6 PFAM
Pfam:Acetyltransf_7 40 127 5.5e-9 PFAM
Pfam:Acetyltransf_1 46 127 7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124446
Predicted Effect probably null
Transcript: ENSMUST00000114391
SMART Domains Protein: ENSMUSP00000110033
Gene: ENSMUSG00000031388

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 40 125 2.2e-8 PFAM
Pfam:Acetyltransf_1 46 115 9.8e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153929
Predicted Effect probably benign
Transcript: ENSMUST00000155597
SMART Domains Protein: ENSMUSP00000116549
Gene: ENSMUSG00000031387

DomainStartEndE-ValueType
Pfam:GlcNAc_2-epim 36 386 4.9e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116578
SMART Domains Protein: ENSMUSP00000112277
Gene: ENSMUSG00000031387

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
Pfam:GlcNAc_2-epim 47 397 6.8e-47 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,982,261 (GRCm39) E282G probably benign Het
Abca12 T A 1: 71,353,167 (GRCm39) K758N probably benign Het
Acacb A T 5: 114,363,915 (GRCm39) R1459* probably null Het
Aco1 A G 4: 40,186,363 (GRCm39) T592A probably benign Het
Aldh2 C T 5: 121,713,188 (GRCm39) G256D probably benign Het
Apbb2 A T 5: 66,469,500 (GRCm39) probably null Het
Apoe A T 7: 19,430,462 (GRCm39) I260K probably benign Het
Cep89 G A 7: 35,124,078 (GRCm39) probably benign Het
Coq3 A G 4: 21,900,361 (GRCm39) D196G probably benign Het
Crispld2 C T 8: 120,742,110 (GRCm39) R153W probably damaging Het
Enox1 A G 14: 77,852,925 (GRCm39) E397G probably damaging Het
Gpatch1 A G 7: 34,998,705 (GRCm39) Y342H probably damaging Het
Gpatch1 T A 7: 34,993,120 (GRCm39) E575V possibly damaging Het
Grid2 T C 6: 64,406,806 (GRCm39) V722A possibly damaging Het
Hsh2d T C 8: 72,947,356 (GRCm39) F18L probably damaging Het
Htra2 C T 6: 83,030,737 (GRCm39) D190N probably damaging Het
Lrfn2 A G 17: 49,377,915 (GRCm39) N332S probably damaging Het
Nlrp4f T C 13: 65,343,042 (GRCm39) E179G possibly damaging Het
Or13p10 T A 4: 118,523,069 (GRCm39) F118L probably benign Het
Or14j1 G A 17: 38,146,165 (GRCm39) G92S probably benign Het
Or4c111 A T 2: 88,843,903 (GRCm39) C168* probably null Het
Prss46 T A 9: 110,678,747 (GRCm39) N46K probably benign Het
Rep15 A C 6: 146,934,163 (GRCm39) M1L possibly damaging Het
Slc10a4 G T 5: 73,169,286 (GRCm39) A105S probably damaging Het
Slc26a9 A T 1: 131,691,748 (GRCm39) T664S probably damaging Het
Stxbp3-ps A T 19: 9,535,714 (GRCm39) noncoding transcript Het
Tmf1 C A 6: 97,140,614 (GRCm39) R754L probably damaging Het
Xcr1 T A 9: 123,685,549 (GRCm39) Y71F probably benign Het
Yars1 C T 4: 129,104,328 (GRCm39) T324I probably benign Het
Zfp106 A G 2: 120,365,868 (GRCm39) S180P probably benign Het
Other mutations in Naa10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1419:Naa10 UTSW X 72,961,522 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02