Incidental Mutation 'IGL00088:Naa15'
ID |
1793 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Naa15
|
Ensembl Gene |
ENSMUSG00000063273 |
Gene Name |
N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
Synonyms |
Narg1, 5730450D16Rik, ASTBDN, Tbdn-1, tubedown, mNAT1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL00088
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51345826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 19
(V19D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141433
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000192419]
[ENSMUST00000193266]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029303
AA Change: V69D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: V69D
Domain | Start | End | E-Value | Type |
TPR
|
46 |
79 |
6.24e1 |
SMART |
TPR
|
80 |
113 |
1.01e0 |
SMART |
Blast:TPR
|
224 |
257 |
3e-12 |
BLAST |
TPR
|
374 |
407 |
1.87e1 |
SMART |
TPR
|
408 |
441 |
5.06e1 |
SMART |
low complexity region
|
603 |
641 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192197
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192419
AA Change: V19D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141965 Gene: ENSMUSG00000063273 AA Change: V19D
Domain | Start | End | E-Value | Type |
Blast:TPR
|
1 |
29 |
8e-12 |
BLAST |
Pfam:TPR_2
|
30 |
63 |
3.4e-5 |
PFAM |
Pfam:TPR_8
|
30 |
63 |
2.6e-4 |
PFAM |
Pfam:TPR_11
|
31 |
95 |
4.8e-7 |
PFAM |
Pfam:TPR_7
|
32 |
65 |
1.5e-2 |
PFAM |
Pfam:TPR_1
|
37 |
63 |
1.6e-4 |
PFAM |
Pfam:TPR_9
|
38 |
85 |
1e-2 |
PFAM |
Pfam:TPR_9
|
88 |
126 |
1.2e0 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192523
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193266
AA Change: V19D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: V19D
Domain | Start | End | E-Value | Type |
Blast:TPR
|
1 |
29 |
3e-10 |
BLAST |
TPR
|
30 |
63 |
4.9e-3 |
SMART |
Blast:TPR
|
174 |
207 |
3e-12 |
BLAST |
TPR
|
324 |
357 |
8.9e-2 |
SMART |
TPR
|
358 |
391 |
2.4e-1 |
SMART |
coiled coil region
|
533 |
585 |
N/A |
INTRINSIC |
Blast:TPR
|
622 |
655 |
7e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195430
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
A |
G |
18: 36,798,512 (GRCm39) |
|
probably benign |
Het |
Anpep |
A |
G |
7: 79,475,484 (GRCm39) |
V879A |
possibly damaging |
Het |
Asb13 |
T |
G |
13: 3,693,476 (GRCm39) |
V78G |
probably null |
Het |
Atad2b |
A |
G |
12: 5,074,593 (GRCm39) |
R1051G |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
C1ql2 |
G |
T |
1: 120,269,399 (GRCm39) |
G185C |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,404,829 (GRCm39) |
S745P |
possibly damaging |
Het |
Col19a1 |
A |
T |
1: 24,600,387 (GRCm39) |
S52T |
unknown |
Het |
Col4a2 |
G |
T |
8: 11,493,685 (GRCm39) |
G1418V |
probably damaging |
Het |
Crnkl1 |
C |
T |
2: 145,760,388 (GRCm39) |
D677N |
possibly damaging |
Het |
Cyp2j8 |
T |
A |
4: 96,392,079 (GRCm39) |
N125I |
probably benign |
Het |
Cyp2t4 |
A |
T |
7: 26,854,723 (GRCm39) |
M68L |
probably benign |
Het |
Dclk2 |
T |
A |
3: 86,706,397 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,308,988 (GRCm39) |
D1921G |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,905,667 (GRCm39) |
G4104S |
probably damaging |
Het |
Echdc2 |
T |
C |
4: 108,036,108 (GRCm39) |
I273T |
probably damaging |
Het |
Extl1 |
T |
C |
4: 134,085,330 (GRCm39) |
K596E |
probably damaging |
Het |
Fads3 |
A |
T |
19: 10,029,663 (GRCm39) |
D108V |
probably null |
Het |
Fam135b |
A |
G |
15: 71,322,343 (GRCm39) |
L1274P |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,477,639 (GRCm39) |
H2228Q |
possibly damaging |
Het |
Gcc2 |
C |
T |
10: 58,128,502 (GRCm39) |
H1341Y |
probably damaging |
Het |
Gls2 |
A |
G |
10: 128,036,840 (GRCm39) |
|
probably null |
Het |
Gpr137 |
A |
C |
19: 6,917,072 (GRCm39) |
V139G |
probably damaging |
Het |
Ikbke |
A |
G |
1: 131,197,749 (GRCm39) |
|
probably null |
Het |
Irak2 |
A |
T |
6: 113,655,636 (GRCm39) |
N285Y |
probably benign |
Het |
Kcnu1 |
G |
A |
8: 26,387,884 (GRCm39) |
C566Y |
probably benign |
Het |
Klhl29 |
G |
A |
12: 5,190,705 (GRCm39) |
P97S |
probably benign |
Het |
Lama4 |
T |
C |
10: 38,941,591 (GRCm39) |
|
probably benign |
Het |
Lhx6 |
G |
A |
2: 35,981,728 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,723,651 (GRCm39) |
L2529P |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Ncbp3 |
A |
T |
11: 72,964,355 (GRCm39) |
|
probably benign |
Het |
Nckipsd |
G |
A |
9: 108,692,168 (GRCm39) |
V530I |
probably benign |
Het |
Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
Nnmt |
A |
T |
9: 48,503,224 (GRCm39) |
|
probably benign |
Het |
Nup58 |
T |
A |
14: 60,480,026 (GRCm39) |
I207L |
probably benign |
Het |
Or14j2 |
A |
T |
17: 37,885,808 (GRCm39) |
C169S |
probably damaging |
Het |
Or5ae1 |
T |
A |
7: 84,565,578 (GRCm39) |
M197K |
probably damaging |
Het |
Or5k16 |
C |
T |
16: 58,736,213 (GRCm39) |
E264K |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,399,510 (GRCm39) |
N741K |
probably damaging |
Het |
Pard6a |
T |
A |
8: 106,429,833 (GRCm39) |
C264S |
probably benign |
Het |
Plch2 |
T |
C |
4: 155,091,099 (GRCm39) |
N276S |
probably damaging |
Het |
Pramel31 |
T |
A |
4: 144,089,100 (GRCm39) |
H139Q |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,547,307 (GRCm39) |
K121N |
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,534,003 (GRCm39) |
|
probably benign |
Het |
Rad51d |
T |
C |
11: 82,780,572 (GRCm39) |
D70G |
probably damaging |
Het |
Recql4 |
C |
T |
15: 76,591,536 (GRCm39) |
A484T |
possibly damaging |
Het |
Reg3g |
A |
T |
6: 78,443,762 (GRCm39) |
S149T |
probably benign |
Het |
Rpl13a |
C |
A |
7: 44,776,495 (GRCm39) |
|
probably null |
Het |
Scn10a |
T |
C |
9: 119,501,292 (GRCm39) |
Y164C |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,594,784 (GRCm39) |
I1878V |
probably benign |
Het |
Sgcg |
T |
A |
14: 61,477,796 (GRCm39) |
R98* |
probably null |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Tas2r140 |
A |
T |
6: 40,468,274 (GRCm39) |
I35F |
probably benign |
Het |
Tex19.2 |
A |
G |
11: 121,007,638 (GRCm39) |
F270S |
possibly damaging |
Het |
Traip |
C |
T |
9: 107,847,749 (GRCm39) |
R391W |
probably benign |
Het |
Trim7 |
A |
G |
11: 48,736,398 (GRCm39) |
N251D |
probably damaging |
Het |
Trmt2a |
T |
A |
16: 18,067,351 (GRCm39) |
V8D |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,964,512 (GRCm39) |
E221G |
probably damaging |
Het |
Ubr3 |
A |
C |
2: 69,819,154 (GRCm39) |
I9L |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,702,897 (GRCm39) |
S575P |
probably benign |
Het |
Vmn2r52 |
G |
T |
7: 9,903,023 (GRCm39) |
H468Q |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,661,488 (GRCm39) |
T776S |
possibly damaging |
Het |
|
Other mutations in Naa15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01753:Naa15
|
APN |
3 |
51,350,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01837:Naa15
|
APN |
3 |
51,351,369 (GRCm39) |
nonsense |
probably null |
|
IGL02619:Naa15
|
APN |
3 |
51,367,552 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02691:Naa15
|
APN |
3 |
51,358,747 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02974:Naa15
|
APN |
3 |
51,368,628 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0009:Naa15
|
UTSW |
3 |
51,377,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Naa15
|
UTSW |
3 |
51,343,634 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0114:Naa15
|
UTSW |
3 |
51,355,859 (GRCm39) |
critical splice donor site |
probably null |
|
R0411:Naa15
|
UTSW |
3 |
51,373,060 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1348:Naa15
|
UTSW |
3 |
51,373,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R1941:Naa15
|
UTSW |
3 |
51,363,355 (GRCm39) |
nonsense |
probably null |
|
R3082:Naa15
|
UTSW |
3 |
51,367,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R4377:Naa15
|
UTSW |
3 |
51,355,786 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4591:Naa15
|
UTSW |
3 |
51,349,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R4980:Naa15
|
UTSW |
3 |
51,366,173 (GRCm39) |
critical splice donor site |
probably null |
|
R5087:Naa15
|
UTSW |
3 |
51,364,706 (GRCm39) |
splice site |
probably null |
|
R5139:Naa15
|
UTSW |
3 |
51,351,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R5289:Naa15
|
UTSW |
3 |
51,363,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R5527:Naa15
|
UTSW |
3 |
51,349,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R5776:Naa15
|
UTSW |
3 |
51,367,447 (GRCm39) |
missense |
probably damaging |
0.96 |
R5909:Naa15
|
UTSW |
3 |
51,367,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:Naa15
|
UTSW |
3 |
51,350,242 (GRCm39) |
missense |
probably damaging |
0.98 |
R6034:Naa15
|
UTSW |
3 |
51,350,242 (GRCm39) |
missense |
probably damaging |
0.98 |
R6194:Naa15
|
UTSW |
3 |
51,370,721 (GRCm39) |
missense |
probably benign |
0.00 |
R6291:Naa15
|
UTSW |
3 |
51,350,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R6522:Naa15
|
UTSW |
3 |
51,378,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R6731:Naa15
|
UTSW |
3 |
51,363,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R6984:Naa15
|
UTSW |
3 |
51,380,021 (GRCm39) |
missense |
probably benign |
0.10 |
R7040:Naa15
|
UTSW |
3 |
51,380,205 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7091:Naa15
|
UTSW |
3 |
51,366,177 (GRCm39) |
splice site |
probably null |
|
R7380:Naa15
|
UTSW |
3 |
51,367,268 (GRCm39) |
splice site |
probably null |
|
R7685:Naa15
|
UTSW |
3 |
51,377,395 (GRCm39) |
splice site |
probably null |
|
R7781:Naa15
|
UTSW |
3 |
51,378,904 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7797:Naa15
|
UTSW |
3 |
51,356,031 (GRCm39) |
missense |
probably damaging |
0.99 |
R7836:Naa15
|
UTSW |
3 |
51,370,688 (GRCm39) |
nonsense |
probably null |
|
R7981:Naa15
|
UTSW |
3 |
51,366,092 (GRCm39) |
missense |
probably damaging |
0.96 |
R8513:Naa15
|
UTSW |
3 |
51,367,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R8923:Naa15
|
UTSW |
3 |
51,367,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R9159:Naa15
|
UTSW |
3 |
51,358,802 (GRCm39) |
missense |
probably benign |
0.01 |
R9701:Naa15
|
UTSW |
3 |
51,349,370 (GRCm39) |
nonsense |
probably null |
|
R9802:Naa15
|
UTSW |
3 |
51,349,370 (GRCm39) |
nonsense |
probably null |
|
X0020:Naa15
|
UTSW |
3 |
51,377,553 (GRCm39) |
missense |
probably benign |
0.00 |
X0061:Naa15
|
UTSW |
3 |
51,356,022 (GRCm39) |
missense |
probably benign |
0.11 |
X0061:Naa15
|
UTSW |
3 |
51,356,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2011-07-12 |