Incidental Mutation 'R0536:Naa30'
ID 49468
Institutional Source Beutler Lab
Gene Symbol Naa30
Ensembl Gene ENSMUSG00000036282
Gene Name N(alpha)-acetyltransferase 30, NatC catalytic subunit
Synonyms 5730533P17Rik, 4930487N19Rik, Nat12
MMRRC Submission 038728-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R0536 (G1)
Quality Score 146
Status Validated
Chromosome 14
Chromosomal Location 49409703-49428346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 49410534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 154 (A154V)
Ref Sequence ENSEMBL: ENSMUSP00000121679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037362] [ENSMUST00000153488]
AlphaFold Q8CES0
Predicted Effect probably benign
Transcript: ENSMUST00000037362
AA Change: A154V

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041450
Gene: ENSMUSG00000036282
AA Change: A154V

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
low complexity region 37 54 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
low complexity region 108 113 N/A INTRINSIC
low complexity region 152 166 N/A INTRINSIC
low complexity region 172 185 N/A INTRINSIC
low complexity region 187 202 N/A INTRINSIC
Pfam:Acetyltransf_8 225 351 2.6e-8 PFAM
Pfam:Acetyltransf_10 246 342 5.1e-8 PFAM
Pfam:Acetyltransf_7 257 344 5e-11 PFAM
Pfam:Acetyltransf_1 262 343 3.1e-17 PFAM
Pfam:FR47 276 351 4.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138478
Predicted Effect possibly damaging
Transcript: ENSMUST00000153488
AA Change: A154V

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121679
Gene: ENSMUSG00000036282
AA Change: A154V

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
low complexity region 37 54 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
low complexity region 108 113 N/A INTRINSIC
low complexity region 152 166 N/A INTRINSIC
low complexity region 172 185 N/A INTRINSIC
low complexity region 187 202 N/A INTRINSIC
Pfam:Acetyltransf_10 227 340 1.6e-10 PFAM
Pfam:Acetyltransf_7 254 342 1.6e-11 PFAM
Pfam:Acetyltransf_1 260 341 1.3e-18 PFAM
Pfam:FR47 274 349 2.7e-10 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 100% (29/29)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,171,342 (GRCm39) probably benign Het
Agrn A T 4: 156,264,010 (GRCm39) D84E probably benign Het
Akap11 A G 14: 78,751,464 (GRCm39) S308P probably damaging Het
Atp6v1c2 A T 12: 17,357,509 (GRCm39) probably null Het
AW209491 A G 13: 14,811,558 (GRCm39) Y137C probably damaging Het
Chst9 G A 18: 15,628,387 (GRCm39) probably benign Het
Dok7 A G 5: 35,223,826 (GRCm39) T122A probably damaging Het
Hoxb5 T C 11: 96,194,854 (GRCm39) S139P possibly damaging Het
Ikzf4 T A 10: 128,477,118 (GRCm39) E64D probably benign Het
Kif21a C A 15: 90,843,886 (GRCm39) probably benign Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Lama3 C T 18: 12,658,951 (GRCm39) R2036C probably damaging Het
Lrba T A 3: 86,622,839 (GRCm39) V311D probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mylk T C 16: 34,820,757 (GRCm39) V1903A possibly damaging Het
Or2ag1 T A 7: 106,313,528 (GRCm39) Y120F probably damaging Het
Or52z12 T C 7: 103,233,468 (GRCm39) S80P probably damaging Het
Or8g24 G T 9: 38,989,625 (GRCm39) Q139K probably benign Het
Pgm3 C T 9: 86,449,589 (GRCm39) V144M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rgsl1 T A 1: 153,701,927 (GRCm39) S211C probably damaging Het
Setx T C 2: 29,048,260 (GRCm39) Y1954H possibly damaging Het
Sorcs3 C T 19: 48,791,137 (GRCm39) Q1162* probably null Het
Sptbn2 T A 19: 4,776,718 (GRCm39) D255E probably damaging Het
Ttc39b T C 4: 83,145,435 (GRCm39) E597G probably damaging Het
Vldlr G A 19: 27,217,364 (GRCm39) A436T probably damaging Het
Wdr72 G A 9: 74,064,690 (GRCm39) G574D probably damaging Het
Zzz3 T G 3: 152,154,465 (GRCm39) I572S probably damaging Het
Other mutations in Naa30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Naa30 APN 14 49,410,714 (GRCm39) missense probably damaging 0.99
IGL03018:Naa30 APN 14 49,410,697 (GRCm39) missense probably benign 0.05
R1989:Naa30 UTSW 14 49,415,597 (GRCm39) nonsense probably null
R2060:Naa30 UTSW 14 49,410,556 (GRCm39) missense possibly damaging 0.69
R3703:Naa30 UTSW 14 49,425,059 (GRCm39) missense probably benign 0.05
R5411:Naa30 UTSW 14 49,425,008 (GRCm39) missense probably damaging 1.00
R7453:Naa30 UTSW 14 49,425,144 (GRCm39) makesense probably null
R8157:Naa30 UTSW 14 49,410,865 (GRCm39) missense probably benign
R8501:Naa30 UTSW 14 49,410,353 (GRCm39) missense possibly damaging 0.95
R8790:Naa30 UTSW 14 49,418,208 (GRCm39) missense probably benign 0.02
R8926:Naa30 UTSW 14 49,425,059 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCGACCCTCAAGAGTAAGGTTCTG -3'
(R):5'- GGATTGCTGCTGTTCCAAAAGTCAC -3'

Sequencing Primer
(F):5'- CCTCAAGAGTAAGGTTCTGAGTGC -3'
(R):5'- AGCTCAGATTCATATCGGACG -3'
Posted On 2013-06-12