Incidental Mutation 'IGL00325:Nat8'
ID5414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nat8
Ensembl Gene ENSMUSG00000030004
Gene NameN-acetyltransferase 8 (GCN5-related)
Synonyms0610037O16Rik, Cml4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL00325
Quality Score
Status
Chromosome6
Chromosomal Location85830388-85832082 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 85830597 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 185 (V185M)
Ref Sequence ENSEMBL: ENSMUSP00000032073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032073]
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: 69,882,691 S431P possibly damaging Het
Arid1b C A 17: 5,337,110 R1613S possibly damaging Het
Atxn2l T C 7: 126,498,288 D196G possibly damaging Het
Bag3 C A 7: 128,546,341 T560K probably benign Het
BC051076 A G 5: 87,964,495 probably benign Het
Becn1 A T 11: 101,295,622 M18K probably benign Het
C130050O18Rik G A 5: 139,414,738 C182Y probably damaging Het
Cfap43 A G 19: 47,823,188 probably benign Het
Cfap97 C T 8: 46,170,185 S204L probably damaging Het
Gaa A G 11: 119,274,960 T100A probably benign Het
Gab2 C T 7: 97,299,258 P352S probably damaging Het
Gckr T A 5: 31,307,767 I360N possibly damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gulo G T 14: 66,005,949 A40D probably damaging Het
Irs1 T C 1: 82,288,483 I671V probably benign Het
Itgax T C 7: 128,148,309 V1028A possibly damaging Het
Lamb3 T C 1: 193,320,447 C67R probably damaging Het
Mpdz A T 4: 81,317,631 V1237E probably damaging Het
Ninj2 A C 6: 120,198,062 T65P probably benign Het
Nrg2 T C 18: 36,021,218 M549V probably benign Het
Nwd2 A G 5: 63,805,475 M801V probably benign Het
Pde8b T C 13: 95,034,367 D589G probably damaging Het
Ppp1r35 T A 5: 137,779,537 V155E probably damaging Het
Prss36 T A 7: 127,944,927 probably benign Het
Raver2 A G 4: 101,102,868 K182E probably damaging Het
Ring1 T G 17: 34,023,009 E142A possibly damaging Het
Sidt2 T A 9: 45,942,236 M689L possibly damaging Het
Slc45a4 A G 15: 73,587,655 V95A probably damaging Het
Ssc5d T C 7: 4,944,481 V1278A possibly damaging Het
Stk36 A T 1: 74,634,702 K1251N possibly damaging Het
Utp14b T A 1: 78,664,545 S53R probably damaging Het
Vmn2r17 A T 5: 109,427,992 E243V probably benign Het
Other mutations in Nat8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02582:Nat8 APN 6 85830801 nonsense probably null
IGL03325:Nat8 APN 6 85830893 missense possibly damaging 0.79
R1343:Nat8 UTSW 6 85830621 missense probably damaging 1.00
R1457:Nat8 UTSW 6 85830989 missense probably damaging 0.97
R2106:Nat8 UTSW 6 85830524 missense probably benign
R4948:Nat8 UTSW 6 85830523 missense probably benign 0.30
R5022:Nat8 UTSW 6 85830857 missense possibly damaging 0.50
R5259:Nat8 UTSW 6 85830891 missense probably benign 0.02
R6883:Nat8 UTSW 6 85830668 missense possibly damaging 0.55
R7143:Nat8 UTSW 6 85830503 missense probably benign 0.00
R7201:Nat8 UTSW 6 85830895 nonsense probably null
R7423:Nat8 UTSW 6 85830495 missense probably benign 0.23
Z1088:Nat8 UTSW 6 85831193 start gained probably benign
Posted On2012-04-20