Incidental Mutation 'R5108:Nat10'
ID 393645
Institutional Source Beutler Lab
Gene Symbol Nat10
Ensembl Gene ENSMUSG00000027185
Gene Name N-acetyltransferase 10
Synonyms
MMRRC Submission 042696-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5108 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 103551601-103591615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103562548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 596 (R596L)
Ref Sequence ENSEMBL: ENSMUSP00000028608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028608]
AlphaFold Q8K224
Predicted Effect probably damaging
Transcript: ENSMUST00000028608
AA Change: R596L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028608
Gene: ENSMUSG00000027185
AA Change: R596L

DomainStartEndE-ValueType
Pfam:DUF1726 107 201 6.9e-39 PFAM
low complexity region 226 242 N/A INTRINSIC
Pfam:Helicase_RecD 281 488 1.3e-68 PFAM
Pfam:GNAT_acetyltr_2 528 753 7e-103 PFAM
Pfam:tRNA_bind_2 771 892 3.6e-46 PFAM
low complexity region 999 1024 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000090447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151010
Meta Mutation Damage Score 0.1992 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (79/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,094,207 (GRCm39) N94Y probably damaging Het
Ak2 A G 4: 128,896,034 (GRCm39) T104A probably damaging Het
Alox12b G T 11: 69,048,208 (GRCm39) A46S probably benign Het
Ank1 G T 8: 23,622,571 (GRCm39) V1662F probably benign Het
Anxa3 T C 5: 96,978,273 (GRCm39) I219T possibly damaging Het
Aoc1l3 C T 6: 48,965,504 (GRCm39) T504I probably damaging Het
Arhgap40 G A 2: 158,389,599 (GRCm39) V588M probably damaging Het
Arhgef38 T C 3: 132,843,029 (GRCm39) T514A probably benign Het
Ascl4 C A 10: 85,764,422 (GRCm39) A23E probably benign Het
Bcl11b T C 12: 107,931,985 (GRCm39) T196A probably benign Het
C1ra A T 6: 124,499,881 (GRCm39) Y689F probably damaging Het
Ccr3 A G 9: 123,828,968 (GRCm39) N101S probably benign Het
Cep70 A T 9: 99,145,865 (GRCm39) probably null Het
Ces1b A G 8: 93,798,541 (GRCm39) V215A probably damaging Het
Cndp1 A T 18: 84,650,186 (GRCm39) I169N probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo2 A G 4: 148,250,486 (GRCm39) Q275R probably damaging Het
Fbxo44 T C 4: 148,243,020 (GRCm39) N133S probably damaging Het
Fzr1 C T 10: 81,205,284 (GRCm39) probably benign Het
Grn T C 11: 102,325,228 (GRCm39) S213P probably benign Het
Ifi203 A T 1: 173,751,580 (GRCm39) C414S probably damaging Het
Igfn1 C T 1: 135,910,179 (GRCm39) R135H probably benign Het
Kcnk10 T C 12: 98,401,560 (GRCm39) M358V probably benign Het
Kcnn2 A T 18: 45,725,122 (GRCm39) Y471F probably damaging Het
Klhl20 A T 1: 160,926,820 (GRCm39) V391E probably damaging Het
Krt1c C T 15: 101,721,721 (GRCm39) G440D possibly damaging Het
Lpin1 A T 12: 16,623,716 (GRCm39) Y223N probably benign Het
Luzp2 G A 7: 54,915,038 (GRCm39) C321Y probably damaging Het
Mcm3ap T C 10: 76,338,536 (GRCm39) V1388A probably benign Het
Mdga2 A T 12: 66,533,515 (GRCm39) H223Q probably benign Het
Mgat4e G T 1: 134,468,961 (GRCm39) P361Q probably benign Het
Mylk3 A T 8: 86,085,721 (GRCm39) I208N possibly damaging Het
Myom2 T A 8: 15,182,667 (GRCm39) V1368E probably damaging Het
Mypn C T 10: 62,972,073 (GRCm39) D656N probably damaging Het
Nek8 T C 11: 78,063,353 (GRCm39) D137G probably damaging Het
Neurl1a A G 19: 47,246,074 (GRCm39) K552E probably damaging Het
Npdc1 C T 2: 25,298,667 (GRCm39) H260Y probably damaging Het
Nuggc A T 14: 65,876,129 (GRCm39) I581F probably damaging Het
Or8d23 T A 9: 38,842,151 (GRCm39) I228N probably damaging Het
P2rx6 T C 16: 17,380,037 (GRCm39) Y54H probably damaging Het
Pcmtd2 A G 2: 181,486,216 (GRCm39) E112G probably damaging Het
Pcnx4 G A 12: 72,620,855 (GRCm39) V892I probably benign Het
Pdss1 T A 2: 22,796,895 (GRCm39) V136E possibly damaging Het
Pias3 T C 3: 96,612,253 (GRCm39) L561P possibly damaging Het
Pomgnt1 G A 4: 116,013,453 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Sec24d T A 3: 123,099,434 (GRCm39) probably null Het
Sftpb T G 6: 72,281,640 (GRCm39) L11R probably damaging Het
Slc22a19 A G 19: 7,688,536 (GRCm39) I8T probably benign Het
Slc22a30 A G 19: 8,363,790 (GRCm39) S266P probably damaging Het
Slc36a2 C A 11: 55,050,214 (GRCm39) G465W probably damaging Het
Slc4a2 G A 5: 24,644,331 (GRCm39) M976I probably damaging Het
Smcr8 C T 11: 60,670,696 (GRCm39) Q615* probably null Het
Sobp T C 10: 43,036,815 (GRCm39) E41G probably damaging Het
Spopfm1 C T 3: 94,173,142 (GRCm39) S50L probably damaging Het
Spz1 A T 13: 92,711,554 (GRCm39) C307* probably null Het
Sult1d1 C T 5: 87,711,728 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,668 (GRCm39) M233T probably damaging Het
Tmc3 C A 7: 83,269,156 (GRCm39) S781R probably damaging Het
Tmem234 G T 4: 129,495,730 (GRCm39) probably benign Het
Trpm3 A T 19: 22,882,078 (GRCm39) Q645L probably benign Het
Ttn C A 2: 76,565,055 (GRCm39) V28391F probably damaging Het
Txnrd3 G T 6: 89,650,016 (GRCm39) A425S probably benign Het
Ubr1 C T 2: 120,793,903 (GRCm39) G94R probably benign Het
Ufl1 A G 4: 25,269,026 (GRCm39) probably null Het
Utp20 T C 10: 88,604,735 (GRCm39) D1720G probably benign Het
Vmn1r13 T A 6: 57,186,901 (GRCm39) M20K probably benign Het
Vmn1r61 A G 7: 5,613,519 (GRCm39) I265T probably benign Het
Zfp120 T C 2: 149,961,862 (GRCm39) T29A probably damaging Het
Other mutations in Nat10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Nat10 APN 2 103,556,109 (GRCm39) critical splice acceptor site probably null
IGL01062:Nat10 APN 2 103,573,393 (GRCm39) missense probably damaging 1.00
IGL01524:Nat10 APN 2 103,588,102 (GRCm39) missense probably damaging 1.00
IGL02553:Nat10 APN 2 103,583,013 (GRCm39) missense probably damaging 1.00
IGL03040:Nat10 APN 2 103,587,610 (GRCm39) splice site probably benign
diana UTSW 2 103,556,052 (GRCm39) missense probably benign 0.00
Trimmer UTSW 2 103,584,495 (GRCm39) missense probably null 1.00
R0106:Nat10 UTSW 2 103,587,550 (GRCm39) missense probably damaging 1.00
R0106:Nat10 UTSW 2 103,587,550 (GRCm39) missense probably damaging 1.00
R0268:Nat10 UTSW 2 103,558,262 (GRCm39) splice site probably benign
R0422:Nat10 UTSW 2 103,557,074 (GRCm39) nonsense probably null
R0423:Nat10 UTSW 2 103,578,572 (GRCm39) missense probably damaging 0.98
R0788:Nat10 UTSW 2 103,573,460 (GRCm39) missense probably damaging 1.00
R0946:Nat10 UTSW 2 103,561,719 (GRCm39) missense probably damaging 0.99
R1353:Nat10 UTSW 2 103,584,418 (GRCm39) missense possibly damaging 0.95
R2141:Nat10 UTSW 2 103,561,648 (GRCm39) splice site probably null
R2142:Nat10 UTSW 2 103,561,648 (GRCm39) splice site probably null
R2192:Nat10 UTSW 2 103,556,522 (GRCm39) missense probably benign 0.00
R3904:Nat10 UTSW 2 103,556,592 (GRCm39) splice site probably benign
R4183:Nat10 UTSW 2 103,570,158 (GRCm39) missense probably damaging 1.00
R4496:Nat10 UTSW 2 103,588,084 (GRCm39) missense probably damaging 1.00
R4578:Nat10 UTSW 2 103,584,417 (GRCm39) missense probably damaging 1.00
R4589:Nat10 UTSW 2 103,584,415 (GRCm39) missense probably damaging 1.00
R4639:Nat10 UTSW 2 103,565,234 (GRCm39) missense probably benign 0.00
R4679:Nat10 UTSW 2 103,562,515 (GRCm39) missense probably damaging 1.00
R4711:Nat10 UTSW 2 103,578,612 (GRCm39) nonsense probably null
R5089:Nat10 UTSW 2 103,587,488 (GRCm39) unclassified probably benign
R5103:Nat10 UTSW 2 103,587,605 (GRCm39) missense probably damaging 0.97
R5134:Nat10 UTSW 2 103,573,638 (GRCm39) missense probably benign 0.29
R5823:Nat10 UTSW 2 103,560,612 (GRCm39) missense probably damaging 1.00
R5893:Nat10 UTSW 2 103,552,184 (GRCm39) unclassified probably benign
R6135:Nat10 UTSW 2 103,573,661 (GRCm39) missense probably damaging 1.00
R6455:Nat10 UTSW 2 103,570,231 (GRCm39) missense possibly damaging 0.69
R6592:Nat10 UTSW 2 103,584,495 (GRCm39) missense probably null 1.00
R6956:Nat10 UTSW 2 103,564,757 (GRCm39) missense probably benign 0.01
R7036:Nat10 UTSW 2 103,584,453 (GRCm39) missense probably benign 0.00
R7063:Nat10 UTSW 2 103,578,422 (GRCm39) missense probably benign 0.01
R7172:Nat10 UTSW 2 103,563,314 (GRCm39) missense probably damaging 1.00
R7226:Nat10 UTSW 2 103,557,098 (GRCm39) missense probably benign 0.01
R7286:Nat10 UTSW 2 103,584,514 (GRCm39) missense probably benign 0.02
R7448:Nat10 UTSW 2 103,578,390 (GRCm39) missense probably damaging 0.99
R7470:Nat10 UTSW 2 103,565,226 (GRCm39) missense probably benign 0.00
R7639:Nat10 UTSW 2 103,573,435 (GRCm39) missense probably damaging 1.00
R7640:Nat10 UTSW 2 103,573,435 (GRCm39) missense probably damaging 1.00
R7641:Nat10 UTSW 2 103,573,435 (GRCm39) missense probably damaging 1.00
R7642:Nat10 UTSW 2 103,557,131 (GRCm39) missense possibly damaging 0.94
R7766:Nat10 UTSW 2 103,556,052 (GRCm39) missense probably benign 0.00
R7787:Nat10 UTSW 2 103,552,208 (GRCm39) missense unknown
R7910:Nat10 UTSW 2 103,555,490 (GRCm39) missense probably benign 0.26
R8506:Nat10 UTSW 2 103,562,582 (GRCm39) missense probably benign 0.12
R8774:Nat10 UTSW 2 103,561,752 (GRCm39) missense probably damaging 0.99
R8774-TAIL:Nat10 UTSW 2 103,561,752 (GRCm39) missense probably damaging 0.99
R8922:Nat10 UTSW 2 103,582,938 (GRCm39) missense probably damaging 1.00
R9283:Nat10 UTSW 2 103,556,092 (GRCm39) nonsense probably null
R9344:Nat10 UTSW 2 103,573,460 (GRCm39) missense probably damaging 1.00
R9516:Nat10 UTSW 2 103,563,364 (GRCm39) missense probably damaging 1.00
R9647:Nat10 UTSW 2 103,578,538 (GRCm39) missense probably benign
R9696:Nat10 UTSW 2 103,556,040 (GRCm39) missense possibly damaging 0.67
X0024:Nat10 UTSW 2 103,558,226 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- TGGGTGAACAGCAATTCGAAC -3'
(R):5'- CATCCTAATGAGGTCGTGTGG -3'

Sequencing Primer
(F):5'- AGAAAGGCCTCCAAAGTCTG -3'
(R):5'- GTCAGTGTGGAGCCGGAAC -3'
Posted On 2016-06-15