Incidental Mutation 'R0423:Nat10'
ID 38568
Institutional Source Beutler Lab
Gene Symbol Nat10
Ensembl Gene ENSMUSG00000027185
Gene Name N-acetyltransferase 10
Synonyms
MMRRC Submission 038625-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0423 (G1)
Quality Score 101
Status Validated
Chromosome 2
Chromosomal Location 103551601-103591615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103578572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 211 (S211P)
Ref Sequence ENSEMBL: ENSMUSP00000028608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028608] [ENSMUST00000140895]
AlphaFold Q8K224
Predicted Effect probably damaging
Transcript: ENSMUST00000028608
AA Change: S211P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028608
Gene: ENSMUSG00000027185
AA Change: S211P

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: ENSMUST00000127581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137050
Predicted Effect probably benign
Transcript: ENSMUST00000140895
SMART Domains Protein: ENSMUSP00000115072
Gene: ENSMUSG00000027185

DomainStartEndE-ValueType
Pfam:DUF1726 107 186 1.2e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145189
Meta Mutation Damage Score 0.3852 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.9%
Validation Efficiency 99% (84/85)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,261,825 (GRCm39) noncoding transcript Het
A630001G21Rik A G 1: 85,654,187 (GRCm39) I50T probably benign Het
Abhd12 T C 2: 150,680,312 (GRCm39) T264A possibly damaging Het
Acsm3 T C 7: 119,376,382 (GRCm39) Y370H probably damaging Het
Ank2 G T 3: 126,723,509 (GRCm39) Y3789* probably null Het
Anxa4 C T 6: 86,737,719 (GRCm39) A1T probably damaging Het
Apba1 T A 19: 23,922,362 (GRCm39) V810D probably damaging Het
Bank1 A G 3: 135,989,778 (GRCm39) I104T possibly damaging Het
Birc6 T C 17: 75,003,292 (GRCm39) Y4721H probably damaging Het
Bmpr2 A G 1: 59,907,669 (GRCm39) T921A probably benign Het
Ccdc102a A C 8: 95,632,554 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,869,794 (GRCm39) D904Y probably damaging Het
Ccdc96 A G 5: 36,642,591 (GRCm39) K199R probably benign Het
Cdh10 G A 15: 18,986,965 (GRCm39) V399I probably benign Het
Cenpk A G 13: 104,370,733 (GRCm39) T85A probably benign Het
Col6a2 A C 10: 76,450,751 (GRCm39) V60G possibly damaging Het
Cops7b A G 1: 86,526,753 (GRCm39) D119G probably benign Het
Cstf2t A G 19: 31,061,676 (GRCm39) E404G possibly damaging Het
Ctnna2 A T 6: 77,630,052 (GRCm39) V134E probably damaging Het
Cwh43 A C 5: 73,574,085 (GRCm39) M250L probably benign Het
Daam2 T A 17: 49,776,449 (GRCm39) K813* probably null Het
Dhcr24 G A 4: 106,443,733 (GRCm39) probably benign Het
Dnah8 G T 17: 30,920,955 (GRCm39) R1182L probably benign Het
Doc2a C T 7: 126,447,830 (GRCm39) P25S probably damaging Het
Dst A G 1: 34,317,116 (GRCm39) S6823G possibly damaging Het
Espl1 T A 15: 102,212,421 (GRCm39) L509* probably null Het
Fbxw19 C T 9: 109,315,134 (GRCm39) V143I probably benign Het
Fbxw5 A G 2: 25,394,538 (GRCm39) T171A possibly damaging Het
Gfra2 C T 14: 71,133,521 (GRCm39) T117M probably damaging Het
Gm454 T A 5: 138,202,403 (GRCm39) noncoding transcript Het
Ilrun A C 17: 28,005,207 (GRCm39) Y117D probably damaging Het
Kcnq4 A G 4: 120,574,705 (GRCm39) S120P probably damaging Het
Krt84 A T 15: 101,437,155 (GRCm39) L336Q probably damaging Het
Lilra6 T A 7: 3,917,774 (GRCm39) probably benign Het
Mbnl2 G A 14: 120,562,736 (GRCm39) R29H probably damaging Het
Mcm3ap G A 10: 76,338,539 (GRCm39) G1389D probably benign Het
Mettl13 A T 1: 162,371,954 (GRCm39) I305N probably damaging Het
Muc6 A G 7: 141,238,548 (GRCm39) S30P probably benign Het
Myh7 T A 14: 55,216,646 (GRCm39) Q1237L probably benign Het
Myo9a T G 9: 59,802,619 (GRCm39) D2035E probably damaging Het
Ntm T C 9: 29,090,395 (GRCm39) Y108C probably damaging Het
Or14c39 T C 7: 86,344,434 (GRCm39) Y257H possibly damaging Het
Or7g25 A T 9: 19,160,248 (GRCm39) L149* probably null Het
Pcdhb16 A G 18: 37,613,422 (GRCm39) D794G probably benign Het
Phlpp1 A G 1: 106,267,345 (GRCm39) T753A probably benign Het
Pierce1 T C 2: 28,356,036 (GRCm39) probably benign Het
Pnldc1 T C 17: 13,108,963 (GRCm39) Q511R possibly damaging Het
Ppip5k2 A G 1: 97,689,152 (GRCm39) S38P possibly damaging Het
Pygb A G 2: 150,665,904 (GRCm39) K593E probably benign Het
Rangap1 A T 15: 81,589,664 (GRCm39) F564I probably damaging Het
Rictor A T 15: 6,803,381 (GRCm39) I498F possibly damaging Het
Rnase12 A T 14: 51,294,613 (GRCm39) V22D probably benign Het
Rpl7l1 T A 17: 47,091,324 (GRCm39) M93L probably benign Het
Smg1 T C 7: 117,776,103 (GRCm39) R1396G possibly damaging Het
Snx19 C A 9: 30,347,133 (GRCm39) T692N probably damaging Het
Spag6 A G 2: 18,715,404 (GRCm39) D61G probably benign Het
Spen T A 4: 141,206,647 (GRCm39) N660I unknown Het
Sptan1 T G 2: 29,918,684 (GRCm39) C2246G probably null Het
Svopl A G 6: 38,013,642 (GRCm39) probably benign Het
Taf2 A T 15: 54,928,078 (GRCm39) N108K probably benign Het
Thbs4 T C 13: 92,893,079 (GRCm39) D703G probably damaging Het
Tle6 G T 10: 81,434,457 (GRCm39) N47K possibly damaging Het
Usp48 G T 4: 137,343,722 (GRCm39) V452L probably benign Het
Ust A T 10: 8,173,912 (GRCm39) S198T probably damaging Het
Wnk2 T A 13: 49,248,894 (GRCm39) M386L possibly damaging Het
Ywhaq T C 12: 21,441,382 (GRCm39) probably benign Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp316 A G 5: 143,238,993 (GRCm39) S1009P probably damaging Het
Zfp963 A G 8: 70,197,156 (GRCm39) Y29H probably damaging Het
Zmym4 A G 4: 126,776,112 (GRCm39) probably benign Het
Zranb3 A G 1: 128,019,607 (GRCm39) I45T 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
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
R5108:Nat10 UTSW 2 103,562,548 (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'- TCCAGAGCAGCAGGACTGAGATTC -3'
(R):5'- GGGCCAATTGATCCAGGAACAGTG -3'

Sequencing Primer
(F):5'- GACTGAGATTCTCATCCTGTCAGAG -3'
(R):5'- GCTTAGGTAACTTGCAGAGCC -3'
Posted On 2013-05-23