Incidental Mutation 'R6470:Nat8l'
ID 516466
Institutional Source Beutler Lab
Gene Symbol Nat8l
Ensembl Gene ENSMUSG00000048142
Gene Name N-acetyltransferase 8-like
Synonyms Shati, 1110038O08Rik
MMRRC Submission 044603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R6470 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 34153328-34163260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34155836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 164 (T164M)
Ref Sequence ENSEMBL: ENSMUSP00000059313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056355]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056355
AA Change: T164M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059313
Gene: ENSMUSG00000048142
AA Change: T164M

DomainStartEndE-ValueType
low complexity region 34 74 N/A INTRINSIC
low complexity region 78 90 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
Pfam:Acetyltransf_10 146 261 9.4e-13 PFAM
Pfam:Acetyltransf_8 156 280 3e-11 PFAM
Pfam:Acetyltransf_7 177 263 2.8e-13 PFAM
Pfam:Acetyltransf_1 184 262 7.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201041
Meta Mutation Damage Score 0.3310 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null mutation display abnormal responses to novelty and decreased social investigation in a novel environment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G T 8: 88,290,656 (GRCm39) V5L probably benign Het
Bptf A G 11: 106,963,593 (GRCm39) V1804A probably damaging Het
Brinp3 A G 1: 146,777,644 (GRCm39) D697G probably damaging Het
Carns1 T C 19: 4,221,782 (GRCm39) T158A possibly damaging Het
Cd300lg A G 11: 101,941,331 (GRCm39) N244S possibly damaging Het
Ces3b A T 8: 105,815,285 (GRCm39) Q12L possibly damaging Het
Chd9 A G 8: 91,659,426 (GRCm39) T129A probably damaging Het
Clca3a2 T A 3: 144,510,024 (GRCm39) probably null Het
Cubn G T 2: 13,327,804 (GRCm39) R2674S possibly damaging Het
Cyp2b10 T C 7: 25,611,081 (GRCm39) I146T possibly damaging Het
Cyp4v3 C T 8: 45,770,773 (GRCm39) W244* probably null Het
Dnah6 T A 6: 73,051,569 (GRCm39) D3075V probably damaging Het
Dpy19l2 A T 9: 24,572,039 (GRCm39) I327N possibly damaging Het
Dst T A 1: 34,334,318 (GRCm39) F4849I probably damaging Het
Dysf A G 6: 84,043,926 (GRCm39) I256V possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Garin5b T C 7: 4,760,850 (GRCm39) T621A probably benign Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Gm9936 T C 5: 114,995,482 (GRCm39) probably benign Het
Gria4 A G 9: 4,503,680 (GRCm39) F312S probably damaging Het
Ifna2 T C 4: 88,601,751 (GRCm39) N89S probably benign Het
Il17rb A G 14: 29,724,866 (GRCm39) S207P probably benign Het
Itga9 A T 9: 118,726,335 (GRCm39) I430F probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Ltk A T 2: 119,583,516 (GRCm39) probably null Het
Nrf1 A G 6: 30,102,199 (GRCm39) D166G probably damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Or10a4 T C 7: 106,696,951 (GRCm39) I93T probably damaging Het
Phlpp2 A G 8: 110,663,826 (GRCm39) D955G probably benign Het
Pianp T A 6: 124,976,232 (GRCm39) probably benign Het
Plin2 G T 4: 86,586,607 (GRCm39) Q75K probably damaging Het
Qrich1 T C 9: 108,411,717 (GRCm39) V414A probably damaging Het
Ros1 A G 10: 52,042,140 (GRCm39) probably null Het
Sardh C T 2: 27,134,384 (GRCm39) R44Q probably damaging Het
Scaf4 C T 16: 90,026,526 (GRCm39) W1072* probably null Het
Sh3rf3 A G 10: 58,819,791 (GRCm39) K201E probably damaging Het
Shprh G T 10: 11,047,681 (GRCm39) A1010S probably damaging Het
Slc35d1 A G 4: 103,047,019 (GRCm39) S260P probably damaging Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Sptb A G 12: 76,659,603 (GRCm39) L1099P probably damaging Het
Srrt T C 5: 137,300,918 (GRCm39) D90G probably damaging Het
Syt10 T C 15: 89,676,804 (GRCm39) D394G probably damaging Het
Tlr3 T C 8: 45,850,422 (GRCm39) D301G probably damaging Het
Ubr3 T A 2: 69,795,804 (GRCm39) M916K probably benign Het
Other mutations in Nat8l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Nat8l APN 5 34,155,761 (GRCm39) missense probably damaging 1.00
IGL01335:Nat8l APN 5 34,155,791 (GRCm39) missense probably benign 0.04
IGL01601:Nat8l APN 5 34,155,809 (GRCm39) missense probably damaging 1.00
IGL03117:Nat8l APN 5 34,158,288 (GRCm39) missense probably damaging 1.00
R1566:Nat8l UTSW 5 34,158,200 (GRCm39) missense probably benign 0.30
R1750:Nat8l UTSW 5 34,158,130 (GRCm39) missense probably damaging 1.00
R2101:Nat8l UTSW 5 34,155,716 (GRCm39) missense probably damaging 0.99
R4817:Nat8l UTSW 5 34,158,387 (GRCm39) missense probably benign 0.02
R5064:Nat8l UTSW 5 34,154,213 (GRCm39) missense probably damaging 0.99
R5114:Nat8l UTSW 5 34,155,823 (GRCm39) missense probably damaging 0.99
R8743:Nat8l UTSW 5 34,154,510 (GRCm39) missense probably damaging 1.00
Z1176:Nat8l UTSW 5 34,154,155 (GRCm39) start gained probably benign
Z1177:Nat8l UTSW 5 34,158,438 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- AAGCACTGATTTACCAAGGTGG -3'
(R):5'- CACCCTTAGCTAGAAGCCTC -3'

Sequencing Primer
(F):5'- TACCCATGTCCAGCCTGG -3'
(R):5'- CTTAGCTAGAAGCCTCAGTCATTCAG -3'
Posted On 2018-05-21