Incidental Mutation 'IGL00325:Nat8'
ID 5414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nat8
Ensembl Gene ENSMUSG00000030004
Gene Name N-acetyltransferase 8 (GCN5-related)
Synonyms 0610037O16Rik, Cml4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL00325
Quality Score
Status
Chromosome 6
Chromosomal Location 85807370-85809064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85807579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 185 (V185M)
Ref Sequence ENSEMBL: ENSMUSP00000032073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032073]
AlphaFold Q9JIY7
Predicted Effect probably benign
Transcript: ENSMUST00000032073
AA Change: V185M

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032073
Gene: ENSMUSG00000030004
AA Change: V185M

DomainStartEndE-ValueType
low complexity region 36 56 N/A INTRINSIC
Pfam:Acetyltransf_10 76 193 5.8e-9 PFAM
Pfam:Acetyltransf_4 87 200 3.8e-8 PFAM
Pfam:Acetyltransf_7 105 195 1.5e-12 PFAM
Pfam:Acetyltransf_1 112 194 5.1e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,773,517 (GRCm39) S431P possibly damaging Het
Arid1b C A 17: 5,387,385 (GRCm39) R1613S possibly damaging Het
Atxn2l T C 7: 126,097,460 (GRCm39) D196G possibly damaging Het
Bag3 C A 7: 128,148,065 (GRCm39) T560K probably benign Het
BC051076 A G 5: 88,112,354 (GRCm39) probably benign Het
Becn1 A T 11: 101,186,448 (GRCm39) M18K probably benign Het
C130050O18Rik G A 5: 139,400,493 (GRCm39) C182Y probably damaging Het
Cfap43 A G 19: 47,811,627 (GRCm39) probably benign Het
Cfap97 C T 8: 46,623,222 (GRCm39) S204L probably damaging Het
Gaa A G 11: 119,165,786 (GRCm39) T100A probably benign Het
Gab2 C T 7: 96,948,465 (GRCm39) P352S probably damaging Het
Gckr T A 5: 31,465,111 (GRCm39) I360N possibly damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gulo G T 14: 66,243,398 (GRCm39) A40D probably damaging Het
Irs1 T C 1: 82,266,204 (GRCm39) I671V probably benign Het
Itgax T C 7: 127,747,481 (GRCm39) V1028A possibly damaging Het
Lamb3 T C 1: 193,002,755 (GRCm39) C67R probably damaging Het
Mpdz A T 4: 81,235,868 (GRCm39) V1237E probably damaging Het
Ninj2 A C 6: 120,175,023 (GRCm39) T65P probably benign Het
Nrg2 T C 18: 36,154,271 (GRCm39) M549V probably benign Het
Nwd2 A G 5: 63,962,818 (GRCm39) M801V probably benign Het
Pde8b T C 13: 95,170,875 (GRCm39) D589G probably damaging Het
Ppp1r35 T A 5: 137,777,799 (GRCm39) V155E probably damaging Het
Prss36 T A 7: 127,544,099 (GRCm39) probably benign Het
Raver2 A G 4: 100,960,065 (GRCm39) K182E probably damaging Het
Ring1 T G 17: 34,241,983 (GRCm39) E142A possibly damaging Het
Sidt2 T A 9: 45,853,534 (GRCm39) M689L possibly damaging Het
Slc45a4 A G 15: 73,459,504 (GRCm39) V95A probably damaging Het
Ssc5d T C 7: 4,947,480 (GRCm39) V1278A possibly damaging Het
Stk36 A T 1: 74,673,861 (GRCm39) K1251N possibly damaging Het
Utp14b T A 1: 78,642,262 (GRCm39) S53R probably damaging Het
Vmn2r17 A T 5: 109,575,858 (GRCm39) E243V probably benign Het
Other mutations in Nat8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02582:Nat8 APN 6 85,807,783 (GRCm39) nonsense probably null
IGL03325:Nat8 APN 6 85,807,875 (GRCm39) missense possibly damaging 0.79
R1343:Nat8 UTSW 6 85,807,603 (GRCm39) missense probably damaging 1.00
R1457:Nat8 UTSW 6 85,807,971 (GRCm39) missense probably damaging 0.97
R2106:Nat8 UTSW 6 85,807,506 (GRCm39) missense probably benign
R4948:Nat8 UTSW 6 85,807,505 (GRCm39) missense probably benign 0.30
R5022:Nat8 UTSW 6 85,807,839 (GRCm39) missense possibly damaging 0.50
R5259:Nat8 UTSW 6 85,807,873 (GRCm39) missense probably benign 0.02
R6883:Nat8 UTSW 6 85,807,650 (GRCm39) missense possibly damaging 0.55
R7143:Nat8 UTSW 6 85,807,485 (GRCm39) missense probably benign 0.00
R7201:Nat8 UTSW 6 85,807,877 (GRCm39) nonsense probably null
R7423:Nat8 UTSW 6 85,807,477 (GRCm39) missense probably benign 0.23
Z1088:Nat8 UTSW 6 85,808,175 (GRCm39) start gained probably benign
Posted On 2012-04-20