Incidental Mutation 'IGL01524:Nat10'
ID89496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nat10
Ensembl Gene ENSMUSG00000027185
Gene NameN-acetyltransferase 10
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01524
Quality Score
Status
Chromosome2
Chromosomal Location103721256-103761270 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103757757 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 8 (N8Y)
Ref Sequence ENSEMBL: ENSMUSP00000129637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028608] [ENSMUST00000140895] [ENSMUST00000148798]
Predicted Effect probably damaging
Transcript: ENSMUST00000028608
AA Change: N8Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028608
Gene: ENSMUSG00000027185
AA Change: N8Y

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: ENSMUST00000127581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137050
Predicted Effect probably damaging
Transcript: ENSMUST00000140895
AA Change: N8Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115072
Gene: ENSMUSG00000027185
AA Change: N8Y

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
Predicted Effect probably damaging
Transcript: ENSMUST00000148798
AA Change: N8Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165970
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,942,382 D1081G possibly damaging Het
Aadat A T 8: 60,516,072 D117V probably damaging Het
Abca14 T C 7: 120,253,421 Y870H possibly damaging Het
Ankrd36 T C 11: 5,635,092 I301T probably benign Het
Atp10b T A 11: 43,259,845 S1457T probably benign Het
Ccdc175 G A 12: 72,131,142 probably benign Het
Ccdc93 A G 1: 121,461,899 K224E probably benign Het
Cep131 C T 11: 120,065,960 A886T probably damaging Het
Clip1 A C 5: 123,579,379 H1282Q probably damaging Het
Ctcfl T G 2: 173,117,384 D183A probably benign Het
Cyp17a1 C T 19: 46,671,056 V112I probably benign Het
D3Ertd254e T C 3: 36,164,580 Y251H possibly damaging Het
Fhod3 T C 18: 25,130,602 I1521T probably damaging Het
Gipc2 A G 3: 152,137,577 I141T probably damaging Het
Glo1 T C 17: 30,596,419 R141G possibly damaging Het
Ipmk C A 10: 71,372,801 A140E probably damaging Het
Kynu A G 2: 43,671,382 D310G possibly damaging Het
Myo1f T A 17: 33,579,883 I174N probably damaging Het
Nhlrc2 A G 19: 56,576,155 I304V probably benign Het
Pdk4 T C 6: 5,491,979 H31R probably damaging Het
Sema6d T C 2: 124,664,075 V644A possibly damaging Het
Slc30a4 T A 2: 122,702,388 K11N possibly damaging Het
Slc6a3 T C 13: 73,538,549 S12P probably benign Het
Spats2 C T 15: 99,212,246 A508V probably benign Het
Tinag A G 9: 77,045,538 Y55H probably damaging Het
Topbp1 T C 9: 103,311,645 I172T possibly damaging Het
Trim17 A G 11: 58,970,597 T279A probably damaging Het
Vmn1r216 C A 13: 23,099,349 N67K probably benign Het
Washc4 T C 10: 83,576,132 L709P probably benign Het
Xdh T C 17: 73,923,137 probably null Het
Zfhx4 C T 3: 5,243,976 P754L probably damaging Het
Zfp623 C A 15: 75,947,679 S161R probably benign Het
Zmat3 G A 3: 32,341,678 R227C possibly damaging Het
Other mutations in Nat10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Nat10 APN 2 103725764 critical splice acceptor site probably null
IGL01062:Nat10 APN 2 103743048 missense probably damaging 1.00
IGL02553:Nat10 APN 2 103752668 missense probably damaging 1.00
IGL03040:Nat10 APN 2 103757265 splice site probably benign
R0106:Nat10 UTSW 2 103757205 missense probably damaging 1.00
R0106:Nat10 UTSW 2 103757205 missense probably damaging 1.00
R0268:Nat10 UTSW 2 103727917 splice site probably benign
R0422:Nat10 UTSW 2 103726729 nonsense probably null
R0423:Nat10 UTSW 2 103748227 missense probably damaging 0.98
R0788:Nat10 UTSW 2 103743115 missense probably damaging 1.00
R0946:Nat10 UTSW 2 103731374 missense probably damaging 0.99
R1353:Nat10 UTSW 2 103754073 missense possibly damaging 0.95
R2141:Nat10 UTSW 2 103731303 splice site probably null
R2142:Nat10 UTSW 2 103731303 splice site probably null
R2192:Nat10 UTSW 2 103726177 missense probably benign 0.00
R3904:Nat10 UTSW 2 103726247 splice site probably benign
R4183:Nat10 UTSW 2 103739813 missense probably damaging 1.00
R4496:Nat10 UTSW 2 103757739 missense probably damaging 1.00
R4578:Nat10 UTSW 2 103754072 missense probably damaging 1.00
R4589:Nat10 UTSW 2 103754070 missense probably damaging 1.00
R4639:Nat10 UTSW 2 103734889 missense probably benign 0.00
R4679:Nat10 UTSW 2 103732170 missense probably damaging 1.00
R4711:Nat10 UTSW 2 103748267 nonsense probably null
R5089:Nat10 UTSW 2 103757143 unclassified probably benign
R5103:Nat10 UTSW 2 103757260 missense probably damaging 0.97
R5108:Nat10 UTSW 2 103732203 missense probably damaging 0.97
R5134:Nat10 UTSW 2 103743293 missense probably benign 0.29
R5823:Nat10 UTSW 2 103730267 missense probably damaging 1.00
R5893:Nat10 UTSW 2 103721839 unclassified probably benign
R6135:Nat10 UTSW 2 103743316 missense probably damaging 1.00
R6455:Nat10 UTSW 2 103739886 missense possibly damaging 0.69
R6592:Nat10 UTSW 2 103754150 missense probably null 1.00
R6956:Nat10 UTSW 2 103734412 missense probably benign 0.01
R7036:Nat10 UTSW 2 103754108 missense probably benign 0.00
R7063:Nat10 UTSW 2 103748077 missense probably benign 0.01
R7172:Nat10 UTSW 2 103732969 missense probably damaging 1.00
R7226:Nat10 UTSW 2 103726753 missense probably benign 0.01
R7286:Nat10 UTSW 2 103754169 missense probably benign 0.02
R7448:Nat10 UTSW 2 103748045 missense probably damaging 0.99
R7470:Nat10 UTSW 2 103734881 missense probably benign 0.00
R7639:Nat10 UTSW 2 103743090 missense probably damaging 1.00
R7640:Nat10 UTSW 2 103743090 missense probably damaging 1.00
R7641:Nat10 UTSW 2 103743090 missense probably damaging 1.00
R7642:Nat10 UTSW 2 103726786 missense possibly damaging 0.94
R7766:Nat10 UTSW 2 103725707 missense probably benign 0.00
R7787:Nat10 UTSW 2 103721863 missense unknown
R7910:Nat10 UTSW 2 103725145 missense probably benign 0.26
X0024:Nat10 UTSW 2 103727881 missense possibly damaging 0.49
Posted On2013-12-03