Incidental Mutation 'R3617:Nat8f3'
ID 268473
Institutional Source Beutler Lab
Gene Symbol Nat8f3
Ensembl Gene ENSMUSG00000051262
Gene Name N-acetyltransferase 8 (GCN5-related) family member 3
Synonyms Cml3, 4833414A14Rik, 4930583K21Rik
MMRRC Submission 040674-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.044) question?
Stock # R3617 (G1)
Quality Score 128
Status Not validated
Chromosome 6
Chromosomal Location 85737613-85742726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85738670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 31 (A31S)
Ref Sequence ENSEMBL: ENSMUSP00000131413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050780] [ENSMUST00000168531]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050780
AA Change: A31S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000093431
Gene: ENSMUSG00000051262
AA Change: A31S

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:Acetyltransf_10 71 193 1.5e-11 PFAM
Pfam:Acetyltransf_4 75 202 2.9e-10 PFAM
Pfam:Acetyltransf_7 105 195 2.7e-11 PFAM
Pfam:Acetyltransf_1 112 194 4.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168531
AA Change: A31S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000131413
Gene: ENSMUSG00000051262
AA Change: A31S

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:Acetyltransf_10 71 193 1.1e-11 PFAM
Pfam:Acetyltransf_4 75 204 4.2e-11 PFAM
Pfam:Acetyltransf_7 105 195 2.5e-12 PFAM
Pfam:Acetyltransf_1 112 194 4.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201219
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,625,015 (GRCm39) V460A probably damaging Het
Aplf T C 6: 87,648,865 (GRCm39) I25V possibly damaging Het
Ascc3 A G 10: 50,494,281 (GRCm39) T239A probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cbfa2t2 A T 2: 154,278,904 (GRCm39) probably benign Het
Ccdc168 T C 1: 44,100,114 (GRCm39) D328G probably benign Het
Cdkn1c C T 7: 143,013,531 (GRCm39) probably benign Het
Cfap46 A G 7: 139,219,515 (GRCm39) S1317P probably benign Het
Cntln C T 4: 84,923,214 (GRCm39) Q560* probably null Het
Cntn2 G C 1: 132,456,361 (GRCm39) A161G probably benign Het
Crybg1 A G 10: 43,832,782 (GRCm39) I1991T possibly damaging Het
Cttnbp2 T C 6: 18,414,189 (GRCm39) E952G probably damaging Het
Dhx36 T C 3: 62,379,428 (GRCm39) T887A possibly damaging Het
Dhx36 A G 3: 62,394,481 (GRCm39) F512L probably benign Het
Fthl17f A G X: 8,929,862 (GRCm39) T153A probably benign Het
Gad1-ps T A 10: 99,281,260 (GRCm39) noncoding transcript Het
Gba2 C T 4: 43,573,803 (GRCm39) R163H probably damaging Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Gm17019 A T 5: 15,081,081 (GRCm39) M120K possibly damaging Het
Helz2 C T 2: 180,874,854 (GRCm39) R1880H probably damaging Het
Ifi204 T C 1: 173,583,283 (GRCm39) I312V possibly damaging Het
Kncn T C 4: 115,743,089 (GRCm39) F55L probably benign Het
Kndc1 G A 7: 139,481,976 (GRCm39) probably benign Het
Ndst4 T C 3: 125,231,782 (GRCm39) I117T probably benign Het
Ndufa9 G T 6: 126,826,071 (GRCm39) probably benign Het
Nup42 T C 5: 24,387,325 (GRCm39) S372P probably benign Het
Pde6a A G 18: 61,364,575 (GRCm39) probably benign Het
Pigw T C 11: 84,769,133 (GRCm39) I65M probably damaging Het
Pip A G 6: 41,828,871 (GRCm39) T139A probably benign Het
Rel A T 11: 23,695,780 (GRCm39) D202E probably damaging Het
Rhot2 A G 17: 26,059,955 (GRCm39) probably benign Het
Sh3rf3 G A 10: 58,922,685 (GRCm39) R587Q possibly damaging Het
Sim1 T A 10: 50,785,624 (GRCm39) M231K probably damaging Het
Slc12a9 G A 5: 137,330,759 (GRCm39) T47M probably damaging Het
Slc4a4 A G 5: 89,382,663 (GRCm39) D1036G probably benign Het
Tas2r143 A T 6: 42,377,997 (GRCm39) I276F probably benign Het
Tgfbr3 A T 5: 107,288,485 (GRCm39) F392Y possibly damaging Het
Tmem266 T C 9: 55,307,918 (GRCm39) V148A probably damaging Het
Ubiad1 A G 4: 148,520,817 (GRCm39) I269T probably benign Het
Vwc2l A G 1: 70,768,041 (GRCm39) probably null Het
Zbtb49 G A 5: 38,357,975 (GRCm39) probably benign Het
Other mutations in Nat8f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5857:Nat8f3 UTSW 6 85,738,735 (GRCm39) missense probably damaging 1.00
R8717:Nat8f3 UTSW 6 85,738,687 (GRCm39) missense possibly damaging 0.93
R9614:Nat8f3 UTSW 6 85,738,708 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TGTCTGTGTGCAAACAGTTCATC -3'
(R):5'- GCAAGCTGGGAACTTAGTTGG -3'

Sequencing Primer
(F):5'- GTGTGCAAACAGTTCATCACATGC -3'
(R):5'- AACTTAGTTGGGGGACTTGC -3'
Posted On 2015-02-19