Incidental Mutation 'IGL03018:Naa30'
ID407976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naa30
Ensembl Gene ENSMUSG00000036282
Gene NameN(alpha)-acetyltransferase 30, NatC catalytic subunit
Synonyms4930487N19Rik, Nat12, 5730533P17Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL03018
Quality Score
Status
Chromosome14
Chromosomal Location49172226-49191031 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 49173240 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 208 (E208D)
Ref Sequence ENSEMBL: ENSMUSP00000121679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037362] [ENSMUST00000153488]
Predicted Effect probably benign
Transcript: ENSMUST00000037362
AA Change: E208D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000041450
Gene: ENSMUSG00000036282
AA Change: E208D

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 probably benign
Transcript: ENSMUST00000153488
AA Change: E208D

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121679
Gene: ENSMUSG00000036282
AA Change: E208D

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,702,451 V474E probably damaging Het
Casc1 A G 6: 145,183,305 F394S probably damaging Het
Cpsf6 A T 10: 117,367,956 D30E probably benign Het
Edem1 T C 6: 108,829,142 F135L probably damaging Het
Elf3 C T 1: 135,256,065 E239K possibly damaging Het
Farp1 C T 14: 121,102,169 A53V probably benign Het
Gli3 T A 13: 15,660,132 L400Q probably damaging Het
Gm7257 A G 9: 36,433,427 T84A possibly damaging Het
Gtf2i T A 5: 134,289,335 I109F possibly damaging Het
Lat2 A T 5: 134,602,591 I191N probably damaging Het
Mtf1 G A 4: 124,838,663 A505T probably benign Het
Nlrp5 T C 7: 23,417,747 Y299H probably benign Het
Npc1 T A 18: 12,214,379 N195Y probably damaging Het
Olfr1101 T G 2: 86,989,005 Y57S probably damaging Het
Olfr1182 T C 2: 88,446,819 N40D probably damaging Het
Olfr453 A G 6: 42,744,814 Y259C probably damaging Het
Olfr830 T C 9: 18,876,227 M300T probably benign Het
Olfr832 A T 9: 18,944,881 I78F probably damaging Het
Pcdh9 G A 14: 93,015,576 A1217V probably null Het
Pdhb C T 14: 8,171,537 probably benign Het
Pknox2 A G 9: 36,954,697 Y75H probably damaging Het
Ptprn2 T C 12: 117,211,943 S748P probably damaging Het
Ranbp6 A G 19: 29,811,389 V521A probably damaging Het
Samd7 A G 3: 30,762,145 K347E probably damaging Het
Selenom A G 11: 3,516,508 D63G probably damaging Het
Sema6d T C 2: 124,659,600 V487A possibly damaging Het
Tapt1 A T 5: 44,204,324 M109K probably damaging Het
Trib1 T C 15: 59,654,484 F301S probably damaging Het
Tspyl1 T C 10: 34,283,116 V279A probably damaging Het
Ubr2 C T 17: 46,954,046 V1184I possibly damaging Het
Urb1 T C 16: 90,788,156 I526V probably benign Het
Vtcn1 A G 3: 100,883,910 D88G probably damaging Het
Yod1 T G 1: 130,718,958 L191V probably benign Het
Other mutations in Naa30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Naa30 APN 14 49173257 missense probably damaging 0.99
R0536:Naa30 UTSW 14 49173077 missense possibly damaging 0.45
R1989:Naa30 UTSW 14 49178140 nonsense probably null
R2060:Naa30 UTSW 14 49173099 missense possibly damaging 0.69
R3703:Naa30 UTSW 14 49187602 missense probably benign 0.05
R5411:Naa30 UTSW 14 49187551 missense probably damaging 1.00
R7453:Naa30 UTSW 14 49187687 makesense probably null
Posted On2016-08-02