Incidental Mutation 'IGL03205:Naa20'
ID 413117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naa20
Ensembl Gene ENSMUSG00000002728
Gene Name N(alpha)-acetyltransferase 20, NatB catalytic subunit
Synonyms D2Ertd186e, 1500004D14Rik, Nat5, 2900026I01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # IGL03205
Quality Score
Status
Chromosome 2
Chromosomal Location 145744019-145758345 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145745251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 8 (T8A)
Ref Sequence ENSEMBL: ENSMUSP00000129127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002805] [ENSMUST00000110000] [ENSMUST00000134759] [ENSMUST00000149461] [ENSMUST00000150316] [ENSMUST00000165635] [ENSMUST00000169732]
AlphaFold P61600
Predicted Effect probably benign
Transcript: ENSMUST00000002805
AA Change: T8A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000002805
Gene: ENSMUSG00000002728
AA Change: T8A

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 40 140 2.1e-8 PFAM
Pfam:Acetyltransf_1 48 139 4.3e-15 PFAM
Pfam:FR47 67 148 3.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110000
AA Change: T8A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000105627
Gene: ENSMUSG00000002728
AA Change: T8A

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 26 128 5.9e-8 PFAM
Pfam:Acetyltransf_7 40 130 5.1e-10 PFAM
Pfam:Acetyltransf_1 48 129 8.3e-18 PFAM
Pfam:FR47 55 138 7.3e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134759
AA Change: T8A

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136330
Predicted Effect probably benign
Transcript: ENSMUST00000149461
AA Change: T8A

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127918
Gene: ENSMUSG00000002728
AA Change: T8A

DomainStartEndE-ValueType
SCOP:d1cjwa_ 3 73 5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150316
Predicted Effect possibly damaging
Transcript: ENSMUST00000165635
AA Change: T8A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000169732
AA Change: T8A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000132857
Gene: ENSMUSG00000002728
AA Change: T8A

DomainStartEndE-ValueType
Pfam:Acetyltransf_1 40 112 2.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsph2 A T 7: 13,290,301 (GRCm39) D120E probably damaging Het
Casp14 A G 10: 78,549,173 (GRCm39) *258Q probably null Het
Ccdc54 A C 16: 50,411,254 (GRCm39) F4C possibly damaging Het
Clcn4 C T 7: 7,293,419 (GRCm39) V475M probably damaging Het
D630045J12Rik C T 6: 38,124,194 (GRCm39) R1586H probably damaging Het
Eml4 T A 17: 83,761,873 (GRCm39) S453R probably damaging Het
Flt1 T C 5: 147,636,631 (GRCm39) K118E probably benign Het
Kif20b A T 19: 34,936,863 (GRCm39) E154D probably damaging Het
Meis2 C T 2: 115,694,731 (GRCm39) V471I probably benign Het
Naa16 G A 14: 79,593,952 (GRCm39) T371I possibly damaging Het
Or13a28 G A 7: 140,218,073 (GRCm39) C153Y possibly damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Pmel A G 10: 128,552,317 (GRCm39) T384A probably benign Het
Ryr3 T C 2: 112,462,487 (GRCm39) Y4863C probably damaging Het
Slc4a4 G A 5: 89,297,189 (GRCm39) V510I probably benign Het
Smad3 T A 9: 63,575,148 (GRCm39) Y23F probably benign Het
Sugt1 G A 14: 79,834,241 (GRCm39) A81T probably damaging Het
Svs3b A T 2: 164,098,181 (GRCm39) F47I probably damaging Het
Thbs4 T C 13: 92,899,282 (GRCm39) D571G probably damaging Het
Trav15-1-dv6-1 T C 14: 53,797,485 (GRCm39) Y45H probably damaging Het
Zbtb5 A T 4: 44,994,949 (GRCm39) M145K probably damaging Het
Other mutations in Naa20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Naa20 APN 2 145,757,726 (GRCm39) splice site probably null
R0485:Naa20 UTSW 2 145,757,592 (GRCm39) missense probably damaging 1.00
R1537:Naa20 UTSW 2 145,754,438 (GRCm39) missense probably benign 0.01
R2161:Naa20 UTSW 2 145,753,715 (GRCm39) critical splice donor site probably null
R4651:Naa20 UTSW 2 145,753,752 (GRCm39) intron probably benign
R5044:Naa20 UTSW 2 145,757,762 (GRCm39) missense probably damaging 1.00
R6254:Naa20 UTSW 2 145,745,240 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02