Incidental Mutation 'IGL02418:Naa16'
ID292522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naa16
Ensembl Gene ENSMUSG00000022020
Gene NameN(alpha)-acetyltransferase 16, NatA auxiliary subunit
SynonymsNarg1l, 1300019C06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL02418
Quality Score
Status
Chromosome14
Chromosomal Location79325269-79390778 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 79383366 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 57 (R57L)
Ref Sequence ENSEMBL: ENSMUSP00000131268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022597] [ENSMUST00000163486] [ENSMUST00000169500]
Predicted Effect probably damaging
Transcript: ENSMUST00000022597
AA Change: R91L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: R91L

DomainStartEndE-ValueType
TPR 46 79 2.99e1 SMART
TPR 80 113 2.98e-3 SMART
Blast:TPR 224 257 1e-10 BLAST
TPR 374 407 9.96e0 SMART
TPR 408 441 7.47e0 SMART
low complexity region 616 633 N/A INTRINSIC
Blast:TPR 672 705 3e-12 BLAST
low complexity region 830 841 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163486
AA Change: R57L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: R57L

DomainStartEndE-ValueType
TPR 12 45 2.99e1 SMART
TPR 46 79 2.98e-3 SMART
Blast:TPR 190 223 3e-10 BLAST
TPR 340 373 9.96e0 SMART
TPR 374 407 7.47e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165337
Predicted Effect probably benign
Transcript: ENSMUST00000169500
SMART Domains Protein: ENSMUSP00000127298
Gene: ENSMUSG00000022020

DomainStartEndE-ValueType
PDB:4KVO|D 1 46 1e-6 PDB
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,604,116 probably benign Het
Acsbg2 A G 17: 56,849,730 V436A probably benign Het
Afap1l1 T C 18: 61,752,577 D156G probably damaging Het
AI481877 A T 4: 59,049,075 probably benign Het
Arhgap21 G A 2: 20,880,900 R489C probably damaging Het
Arhgap26 G A 18: 39,357,567 probably benign Het
Bbs5 T G 2: 69,655,505 *89G probably null Het
Ceacam5 A T 7: 17,759,434 Y794F possibly damaging Het
Ces3b T C 8: 105,085,647 V176A probably damaging Het
Cfi A G 3: 129,848,812 H105R probably benign Het
Chat C T 14: 32,446,949 V210I possibly damaging Het
Chd1l A G 3: 97,581,099 S534P probably benign Het
Cyb5rl T C 4: 107,070,985 L106P probably damaging Het
Cyp21a1 A G 17: 34,804,188 probably benign Het
Dnah12 T C 14: 26,773,722 C1436R probably damaging Het
Flg2 T A 3: 93,201,054 F130I probably benign Het
Fryl T A 5: 73,110,176 probably benign Het
Galnt10 T C 11: 57,781,168 V428A probably benign Het
Ganab A G 19: 8,911,069 D496G probably null Het
Gapvd1 T C 2: 34,730,518 T44A probably benign Het
Gm17093 T A 14: 44,520,728 M122K unknown Het
Gm5356 A T 8: 89,187,436 noncoding transcript Het
Gmppa G T 1: 75,439,020 G126C probably damaging Het
Il23r T C 6: 67,490,672 H37R possibly damaging Het
Itga11 A G 9: 62,744,632 I349V probably benign Het
Lrrc42 A T 4: 107,243,336 Y159* probably null Het
Mettl11b A T 1: 163,703,156 V238E probably damaging Het
Olfr967 A G 9: 39,750,491 Y35C probably damaging Het
Oxtr A T 6: 112,477,239 H21Q probably damaging Het
Paqr7 A G 4: 134,506,973 Y47C probably damaging Het
Paxbp1 A C 16: 91,034,112 C459G probably damaging Het
Pnp2 C T 14: 50,963,836 R222C possibly damaging Het
Rtl1 T C 12: 109,590,449 D1652G probably damaging Het
Spata4 C A 8: 54,609,943 N294K probably benign Het
Tcp11l2 T A 10: 84,613,606 Y478* probably null Het
Tcte1 T A 17: 45,541,202 S454T probably benign Het
Tex45 T A 8: 3,476,080 F78I probably damaging Het
Thsd4 C T 9: 60,428,315 V105I probably damaging Het
Tmem117 T A 15: 94,931,884 I200N probably benign Het
Tpgs1 G A 10: 79,669,455 V16M probably benign Het
Ttn G T 2: 76,967,103 T539K probably benign Het
Usp24 A G 4: 106,436,360 S2542G probably benign Het
Vmn2r44 A T 7: 8,377,865 L343H probably damaging Het
Zmat2 T A 18: 36,794,339 Y21N probably damaging Het
Zyx C T 6: 42,357,393 A517V probably damaging Het
Other mutations in Naa16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Naa16 APN 14 79355729 missense probably damaging 1.00
IGL01025:Naa16 APN 14 79384756 missense probably damaging 1.00
IGL01155:Naa16 APN 14 79384715 missense probably damaging 0.98
IGL01335:Naa16 APN 14 79345116 splice site probably benign
IGL01981:Naa16 APN 14 79381516 missense probably benign 0.05
IGL02230:Naa16 APN 14 79377361 splice site probably benign
IGL02313:Naa16 APN 14 79384668 missense probably damaging 1.00
IGL02544:Naa16 APN 14 79335820 missense probably damaging 1.00
IGL03051:Naa16 APN 14 79369082 missense probably benign 0.01
IGL03064:Naa16 APN 14 79339628 missense probably damaging 0.98
IGL03205:Naa16 APN 14 79356512 missense possibly damaging 0.89
PIT4508001:Naa16 UTSW 14 79369087 missense probably benign 0.15
R0651:Naa16 UTSW 14 79351392 missense probably damaging 1.00
R1429:Naa16 UTSW 14 79359527 missense probably benign 0.01
R1674:Naa16 UTSW 14 79387057 start codon destroyed probably null 0.65
R1693:Naa16 UTSW 14 79351456 missense probably damaging 1.00
R1874:Naa16 UTSW 14 79355743 missense possibly damaging 0.62
R1992:Naa16 UTSW 14 79356491 missense probably damaging 1.00
R2015:Naa16 UTSW 14 79345059 missense probably damaging 1.00
R2391:Naa16 UTSW 14 79370049 missense probably benign 0.16
R2847:Naa16 UTSW 14 79335883 missense probably damaging 1.00
R2848:Naa16 UTSW 14 79335883 missense probably damaging 1.00
R2877:Naa16 UTSW 14 79343298 missense probably benign 0.00
R3884:Naa16 UTSW 14 79343262 missense probably damaging 0.98
R4001:Naa16 UTSW 14 79343121 splice site probably null
R4199:Naa16 UTSW 14 79355871 missense probably damaging 1.00
R4638:Naa16 UTSW 14 79340033 splice site probably null
R4676:Naa16 UTSW 14 79336348 unclassified probably benign
R4690:Naa16 UTSW 14 79345057 missense probably damaging 1.00
R4952:Naa16 UTSW 14 79345085 missense probably damaging 1.00
R5087:Naa16 UTSW 14 79377415 missense possibly damaging 0.68
R5104:Naa16 UTSW 14 79384700 nonsense probably null
R5729:Naa16 UTSW 14 79355780 missense probably damaging 1.00
R6178:Naa16 UTSW 14 79383340 missense possibly damaging 0.93
R6960:Naa16 UTSW 14 79359471 missense possibly damaging 0.65
R7794:Naa16 UTSW 14 79377494 missense probably damaging 1.00
X0064:Naa16 UTSW 14 79351389 missense probably damaging 1.00
Z1177:Naa16 UTSW 14 79344979 missense probably damaging 1.00
Posted On2015-04-16