Incidental Mutation 'IGL02619:Naa15'
| ID |
300778 |
| 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 # |
IGL02619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 51367552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 575
(D575A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000193266]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029303
AA Change: D575A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
AA Change: D575A
| 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 |
noncoding transcript
Transcript: ENSMUST00000192523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193266
AA Change: D525A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
AA Change: D525A
| 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: ENSMUST00000193694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194685
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
T |
1: 179,620,016 (GRCm39) |
G220E |
possibly damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,321,504 (GRCm39) |
I101T |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,902,298 (GRCm39) |
C4S |
probably damaging |
Het |
| Ccdc174 |
T |
A |
6: 91,876,538 (GRCm39) |
D458E |
possibly damaging |
Het |
| Cercam |
A |
G |
2: 29,770,686 (GRCm39) |
N419S |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,512,083 (GRCm39) |
N551S |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,580,988 (GRCm39) |
I87F |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,848,836 (GRCm39) |
|
probably benign |
Het |
| Ddhd2 |
C |
A |
8: 26,236,981 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
A |
9: 45,359,094 (GRCm39) |
Y118N |
probably damaging |
Het |
| Ece1 |
C |
T |
4: 137,666,044 (GRCm39) |
A296V |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,766 (GRCm39) |
I115F |
possibly damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,827,609 (GRCm39) |
N143K |
probably damaging |
Het |
| Foxk2 |
G |
T |
11: 121,190,402 (GRCm39) |
|
probably benign |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,529 (GRCm39) |
K33E |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,547,530 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
A |
T |
13: 55,162,107 (GRCm39) |
C133S |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,331,252 (GRCm39) |
A542V |
probably damaging |
Het |
| Lrch2 |
A |
C |
X: 146,263,537 (GRCm39) |
V363G |
probably damaging |
Het |
| Lrch2 |
C |
T |
X: 146,302,131 (GRCm39) |
C264Y |
probably damaging |
Het |
| Lrrc56 |
C |
A |
7: 140,787,546 (GRCm39) |
|
probably benign |
Het |
| Lrtm2 |
C |
T |
6: 119,294,199 (GRCm39) |
V311M |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,587,529 (GRCm39) |
Q470K |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,969,456 (GRCm39) |
V69D |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,123,489 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
G |
10: 14,636,331 (GRCm39) |
D100G |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,250,553 (GRCm39) |
V588M |
possibly damaging |
Het |
| Or4b13 |
G |
T |
2: 90,082,849 (GRCm39) |
T161N |
probably damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,949 (GRCm39) |
|
probably benign |
Het |
| Osmr |
C |
A |
15: 6,871,475 (GRCm39) |
R314M |
probably damaging |
Het |
| Pcdhb16 |
C |
T |
18: 37,611,270 (GRCm39) |
Q77* |
probably null |
Het |
| Pglyrp4 |
G |
A |
3: 90,642,955 (GRCm39) |
|
probably null |
Het |
| Ptprh |
A |
G |
7: 4,552,498 (GRCm39) |
F922S |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,418,673 (GRCm39) |
Q813L |
possibly damaging |
Het |
| Sgtb |
A |
G |
13: 104,254,922 (GRCm39) |
N64S |
probably benign |
Het |
| Slc5a12 |
T |
C |
2: 110,471,201 (GRCm39) |
V481A |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,149,349 (GRCm39) |
V454A |
probably benign |
Het |
| Sntg2 |
C |
A |
12: 30,317,025 (GRCm39) |
|
probably null |
Het |
| Synj1 |
C |
T |
16: 90,770,933 (GRCm39) |
V499I |
probably damaging |
Het |
| Tmco1 |
T |
C |
1: 167,153,597 (GRCm39) |
|
probably benign |
Het |
| Tmem38b |
T |
C |
4: 53,848,871 (GRCm39) |
I92T |
probably damaging |
Het |
| Tmem9 |
T |
C |
1: 135,955,145 (GRCm39) |
V93A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,625,582 (GRCm39) |
R15080S |
possibly damaging |
Het |
| Ube2e3 |
T |
C |
2: 78,749,065 (GRCm39) |
I138T |
probably damaging |
Het |
| Urgcp |
A |
G |
11: 5,665,752 (GRCm39) |
I862T |
possibly damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,603 (GRCm39) |
I165N |
probably benign |
Het |
| Washc4 |
G |
A |
10: 83,394,717 (GRCm39) |
V316I |
possibly damaging |
Het |
| Zfp111 |
A |
T |
7: 23,899,113 (GRCm39) |
L166Q |
possibly damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,597,718 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,793 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Naa15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Naa15
|
APN |
3 |
51,345,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01753:Naa15
|
APN |
3 |
51,350,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01837:Naa15
|
APN |
3 |
51,351,369 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation