Incidental Mutation 'R5259:Nat8'
ID 401297
Institutional Source Beutler Lab
Gene Symbol Nat8
Ensembl Gene ENSMUSG00000030004
Gene Name N-acetyltransferase 8 (GCN5-related)
Synonyms 0610037O16Rik, Cml4
MMRRC Submission 042856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5259 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 85807370-85809064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85807873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 87 (S87T)
Ref Sequence ENSEMBL: ENSMUSP00000032073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032073]
AlphaFold Q9JIY7
Predicted Effect probably benign
Transcript: ENSMUST00000032073
AA Change: S87T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000032073
Gene: ENSMUSG00000030004
AA Change: S87T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (68/68)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A C 3: 40,871,325 (GRCm39) T50P probably damaging Het
Adam5 T A 8: 25,300,850 (GRCm39) L226F possibly damaging Het
Adi1 T C 12: 28,725,544 (GRCm39) probably benign Het
Apc T C 18: 34,447,343 (GRCm39) V1379A probably benign Het
Atp13a4 G A 16: 29,275,428 (GRCm39) T352M probably damaging Het
Baat T A 4: 49,490,070 (GRCm39) N338I probably benign Het
Bdnf A G 2: 109,554,327 (GRCm39) T234A probably benign Het
Catsperd A C 17: 56,967,235 (GRCm39) T539P possibly damaging Het
Cd109 A T 9: 78,617,434 (GRCm39) T1311S probably benign Het
Ceacam18 T C 7: 43,286,536 (GRCm39) probably null Het
Cfap96 T C 8: 46,415,373 (GRCm39) E211G probably benign Het
Cfhr4 C T 1: 139,668,233 (GRCm39) C300Y probably damaging Het
Chsy3 T A 18: 59,543,318 (GRCm39) S819T probably damaging Het
Col4a4 G T 1: 82,431,614 (GRCm39) R1557S unknown Het
Ddx18 A G 1: 121,495,518 (GRCm39) probably null Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Fam13c C G 10: 70,276,893 (GRCm39) A17G probably benign Het
Fermt1 T C 2: 132,748,685 (GRCm39) Y646C probably damaging Het
Fra10ac1 A G 19: 38,188,110 (GRCm39) S229P probably benign Het
Gbp8 A T 5: 105,198,845 (GRCm39) H23Q probably benign Het
Gdf2 T C 14: 33,666,788 (GRCm39) V170A probably benign Het
Gm15723 T C 10: 114,652,722 (GRCm39) noncoding transcript Het
Gm815 G A 19: 26,863,806 (GRCm39) V16I unknown Het
Ighv1-75 T A 12: 115,797,797 (GRCm39) K42* probably null Het
Isx A G 8: 75,619,473 (GRCm39) T222A probably benign Het
Itgax G A 7: 127,747,450 (GRCm39) D1018N probably damaging Het
Kcnc4 A G 3: 107,355,401 (GRCm39) F349S probably damaging Het
Lama3 A C 18: 12,598,565 (GRCm39) S991R probably damaging Het
Larp4b C T 13: 9,208,220 (GRCm39) A398V probably damaging Het
Ltbp1 A G 17: 75,670,357 (GRCm39) N1466S probably benign Het
Metrn A T 17: 26,015,514 (GRCm39) L67Q probably damaging Het
Morc1 G A 16: 48,451,132 (GRCm39) R937Q probably benign Het
Mta3 A G 17: 84,112,003 (GRCm39) Y577C probably damaging Het
Nalcn A G 14: 123,753,063 (GRCm39) F308L possibly damaging Het
Oplah A T 15: 76,185,410 (GRCm39) probably null Het
Or2ak6 A G 11: 58,592,778 (GRCm39) N84D probably benign Het
Or2ak6 A C 11: 58,592,779 (GRCm39) N84T possibly damaging Het
Or7e166 A G 9: 19,624,109 (GRCm39) probably null Het
Pcdh15 A T 10: 74,232,204 (GRCm39) I668L possibly damaging Het
Pecr A G 1: 72,316,444 (GRCm39) probably null Het
Plxna4 T C 6: 32,493,956 (GRCm39) E220G possibly damaging Het
Pnma8b A G 7: 16,679,199 (GRCm39) K61R unknown Het
Prl8a6 C T 13: 27,620,179 (GRCm39) W81* probably null Het
Rab33b C T 3: 51,392,033 (GRCm39) probably benign Het
Rbm33 T A 5: 28,557,772 (GRCm39) probably null Het
Relch A G 1: 105,649,101 (GRCm39) S747G probably benign Het
Reln C T 5: 22,308,395 (GRCm39) V325M possibly damaging Het
Rheb A C 5: 25,008,743 (GRCm39) D158E probably benign Het
Rhebl1 T A 15: 98,778,464 (GRCm39) probably benign Het
Rmdn2 T A 17: 79,975,446 (GRCm39) Y312N probably damaging Het
Scamp1 T G 13: 94,368,594 (GRCm39) N58T probably benign Het
Semp2l1 A T 1: 32,584,598 (GRCm39) C437* probably null Het
Slc35a1 C T 4: 34,683,322 (GRCm39) V53M probably benign Het
Slc35f3 A T 8: 127,115,872 (GRCm39) L266F probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Ticrr T A 7: 79,344,471 (GRCm39) S1445R probably benign Het
Ttc23l T C 15: 10,515,236 (GRCm39) N381D probably damaging Het
Usp17ld T A 7: 102,899,781 (GRCm39) K384* probably null Het
Vmn1r20 T A 6: 57,409,050 (GRCm39) Y125* probably null Het
Zfp738 G T 13: 67,817,805 (GRCm39) Q729K probably benign Het
Zfp770 T A 2: 114,027,674 (GRCm39) M132L 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
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
Predicted Primers PCR Primer
(F):5'- AGTTCTGGTCAGCGCTTTC -3'
(R):5'- ATGTGTTCTCCAGGGGCATG -3'

Sequencing Primer
(F):5'- TCCTCGATGCTGTGAGGACAC -3'
(R):5'- TGGAGGAGCACATACCCACTG -3'
Posted On 2016-07-06