Incidental Mutation 'R6883:Nat8'
ID 536891
Institutional Source Beutler Lab
Gene Symbol Nat8
Ensembl Gene ENSMUSG00000030004
Gene Name N-acetyltransferase 8 (GCN5-related)
Synonyms 0610037O16Rik, Cml4
MMRRC Submission 044978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6883 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 85807370-85809064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85807650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 161 (V161A)
Ref Sequence ENSEMBL: ENSMUSP00000032073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032073]
AlphaFold Q9JIY7
Predicted Effect possibly damaging
Transcript: ENSMUST00000032073
AA Change: V161A

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032073
Gene: ENSMUSG00000030004
AA Change: V161A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 92% (45/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A G 9: 118,985,728 (GRCm39) S66P possibly damaging Het
Adh7 A T 3: 137,929,825 (GRCm39) E167V probably damaging Het
Ano6 T C 15: 95,859,992 (GRCm39) S705P probably damaging Het
Arpc1b T C 5: 145,063,739 (GRCm39) V329A probably benign Het
Btla C T 16: 45,063,092 (GRCm39) H152Y probably benign Het
Cadps T C 14: 12,465,883 (GRCm38) E1009G probably damaging Het
Cttnbp2nl A G 3: 104,918,507 (GRCm39) probably null Het
Cyp4a12a G T 4: 115,159,221 (GRCm39) V164F probably damaging Het
Duox1 G T 2: 122,155,065 (GRCm39) probably null Het
Fcgbpl1 A T 7: 27,852,260 (GRCm39) H1261L possibly damaging Het
Fmo6 A G 1: 162,757,461 (GRCm39) I104T probably damaging Het
Fnbp4 T C 2: 90,576,172 (GRCm39) probably null Het
Garem1 T C 18: 21,262,769 (GRCm39) T682A probably benign Het
Gm49358 A G 10: 86,651,762 (GRCm39) E188G probably benign Het
Gm5773 T C 3: 93,681,162 (GRCm39) I278T probably benign Het
Ifi27l2a A G 12: 103,409,756 (GRCm39) probably benign Het
Inpp5d A C 1: 87,627,412 (GRCm39) K308T probably damaging Het
Irf6 A T 1: 192,849,774 (GRCm39) Y232F probably damaging Het
Kcnmb4 T C 10: 116,309,248 (GRCm39) Q60R probably benign Het
Klri2 T C 6: 129,709,985 (GRCm39) D205G probably benign Het
Mcm9 A T 10: 53,492,110 (GRCm39) W352R probably damaging Het
Nlrp9c A T 7: 26,077,556 (GRCm39) M742K probably benign Het
Or10ag58 C A 2: 87,265,623 (GRCm39) T264K probably damaging Het
Or13j1 T C 4: 43,705,723 (GRCm39) T282A possibly damaging Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Pcdha11 A T 18: 37,144,242 (GRCm39) D111V probably damaging Het
Pcdhb6 A T 18: 37,468,198 (GRCm39) D373V probably damaging Het
Pcolce2 A T 9: 95,560,396 (GRCm39) probably null Het
Pik3cb T C 9: 98,983,453 (GRCm39) M52V probably benign Het
Pipox T C 11: 77,774,729 (GRCm39) E118G probably benign Het
Pou4f2 T C 8: 79,162,307 (GRCm39) S99G probably benign Het
Ptpn12 T A 5: 21,260,711 (GRCm39) Q12L probably benign Het
Sim2 G T 16: 93,926,395 (GRCm39) A540S probably benign Het
Smg1 A T 7: 117,767,403 (GRCm39) probably benign Het
Sntb1 A G 15: 55,769,719 (GRCm39) V90A probably benign Het
Spns2 T C 11: 72,347,196 (GRCm39) probably null Het
Syne1 G T 10: 5,181,704 (GRCm39) C4210* probably null Het
Tek T C 4: 94,725,426 (GRCm39) I564T possibly damaging Het
Tmem94 T G 11: 115,687,287 (GRCm39) C1135W probably damaging Het
Tnxb T A 17: 34,937,493 (GRCm39) D3827E probably damaging Het
Ttl A G 2: 128,923,992 (GRCm39) D235G possibly damaging Het
Tuba4a A G 1: 75,194,066 (GRCm39) S5P probably damaging Het
Uaca T A 9: 60,777,173 (GRCm39) V518D probably damaging Het
Unc80 A T 1: 66,685,563 (GRCm39) Q2229L probably benign Het
Unkl C T 17: 25,449,307 (GRCm39) A78V probably damaging Het
Uroc1 C T 6: 90,315,574 (GRCm39) Q152* probably null Het
Vmn2r51 G T 7: 9,834,025 (GRCm39) Q338K possibly damaging Het
Vps50 C T 6: 3,498,513 (GRCm39) probably benign Het
Other mutations in Nat8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Nat8 APN 6 85,807,579 (GRCm39) missense probably benign 0.08
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
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
Predicted Primers PCR Primer
(F):5'- GCATAGTAAACCAGAGGCTGAC -3'
(R):5'- AAGTCCTACCTGAGTGTCCG -3'

Sequencing Primer
(F):5'- CTCATATTTTTGAGCAGAAGGGAG -3'
(R):5'- TACCTGAGTGTCCGTGGCTC -3'
Posted On 2018-10-18