Incidental Mutation 'IGL02691:Naa15'
ID |
303769 |
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 # |
IGL02691
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51358747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 294
(E294G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141433
(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: E344G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: E344G
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 |
noncoding transcript
Transcript: ENSMUST00000192523
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193266
AA Change: E294G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: E294G
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 |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,655,457 (GRCm39) |
S40P |
probably benign |
Het |
Actl9 |
G |
T |
17: 33,652,092 (GRCm39) |
V51L |
probably damaging |
Het |
Adcy6 |
A |
T |
15: 98,502,185 (GRCm39) |
F143Y |
probably damaging |
Het |
Agps |
A |
T |
2: 75,722,204 (GRCm39) |
I465F |
probably benign |
Het |
Armc3 |
T |
A |
2: 19,240,295 (GRCm39) |
F17L |
probably damaging |
Het |
Arsk |
A |
C |
13: 76,223,069 (GRCm39) |
M176R |
probably damaging |
Het |
Asz1 |
G |
A |
6: 18,076,556 (GRCm39) |
T212I |
probably damaging |
Het |
Atp6v1a |
A |
G |
16: 43,931,982 (GRCm39) |
I102T |
probably damaging |
Het |
Bpifb6 |
T |
A |
2: 153,744,565 (GRCm39) |
L2Q |
unknown |
Het |
Cad |
A |
G |
5: 31,212,638 (GRCm39) |
Y45C |
probably damaging |
Het |
Ccdc93 |
A |
G |
1: 121,414,342 (GRCm39) |
D451G |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,789,547 (GRCm39) |
I834T |
probably benign |
Het |
Cyp2j12 |
C |
T |
4: 96,021,231 (GRCm39) |
|
probably null |
Het |
Dhx8 |
G |
A |
11: 101,642,830 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,800,767 (GRCm39) |
|
probably benign |
Het |
Ell2 |
T |
A |
13: 75,904,605 (GRCm39) |
D99E |
probably damaging |
Het |
Enpp1 |
G |
T |
10: 24,587,790 (GRCm39) |
P34T |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,892,564 (GRCm39) |
V2888E |
possibly damaging |
Het |
Gmfg |
A |
G |
7: 28,144,295 (GRCm39) |
Y40C |
probably damaging |
Het |
Gnal |
T |
C |
18: 67,355,746 (GRCm39) |
I369T |
probably damaging |
Het |
Gzmn |
T |
C |
14: 56,404,370 (GRCm39) |
T156A |
probably benign |
Het |
H2-DMb2 |
A |
T |
17: 34,366,832 (GRCm39) |
H88L |
probably benign |
Het |
Ighv7-3 |
T |
C |
12: 114,117,016 (GRCm39) |
T49A |
probably benign |
Het |
Jakmip3 |
C |
T |
7: 138,628,573 (GRCm39) |
Q450* |
probably null |
Het |
Klhl20 |
A |
T |
1: 160,934,444 (GRCm39) |
|
probably benign |
Het |
Klk6 |
A |
G |
7: 43,477,924 (GRCm39) |
T99A |
probably benign |
Het |
Lhx3 |
A |
G |
2: 26,093,097 (GRCm39) |
C118R |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,803,655 (GRCm39) |
|
probably benign |
Het |
Nfia |
C |
T |
4: 97,970,045 (GRCm39) |
Q373* |
probably null |
Het |
Notch2 |
C |
A |
3: 98,042,923 (GRCm39) |
Y1429* |
probably null |
Het |
Oc90 |
A |
G |
15: 65,754,410 (GRCm39) |
S252P |
probably damaging |
Het |
Or56a3b |
A |
G |
7: 104,771,338 (GRCm39) |
I225V |
probably damaging |
Het |
Or8k37 |
T |
C |
2: 86,469,182 (GRCm39) |
Y290C |
probably damaging |
Het |
Pde3b |
T |
A |
7: 114,107,320 (GRCm39) |
|
probably benign |
Het |
Pdss1 |
G |
A |
2: 22,805,253 (GRCm39) |
V211I |
probably benign |
Het |
Phactr1 |
G |
T |
13: 43,231,213 (GRCm39) |
M226I |
probably benign |
Het |
Phf11c |
A |
G |
14: 59,622,236 (GRCm39) |
S259P |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,476,713 (GRCm39) |
N269S |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,228,688 (GRCm39) |
V229A |
possibly damaging |
Het |
Plcb2 |
T |
C |
2: 118,541,444 (GRCm39) |
K997R |
probably benign |
Het |
Ppm1m |
A |
T |
9: 106,072,568 (GRCm39) |
V449E |
probably damaging |
Het |
Ppp1r36dn |
T |
C |
12: 76,498,073 (GRCm39) |
|
noncoding transcript |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rgs14 |
A |
G |
13: 55,526,836 (GRCm39) |
|
probably null |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Scamp5 |
G |
T |
9: 57,358,660 (GRCm39) |
R39S |
probably damaging |
Het |
Slc5a6 |
C |
T |
5: 31,199,518 (GRCm39) |
V15I |
probably damaging |
Het |
Snx25 |
A |
T |
8: 46,558,302 (GRCm39) |
V235E |
possibly damaging |
Het |
Tdrd1 |
G |
T |
19: 56,832,284 (GRCm39) |
E400D |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,539,544 (GRCm39) |
R1593G |
probably benign |
Het |
Trdv2-2 |
T |
C |
14: 54,199,039 (GRCm39) |
F110L |
possibly damaging |
Het |
Ush2a |
A |
C |
1: 188,466,949 (GRCm39) |
Y2871S |
probably damaging |
Het |
Vars2 |
A |
C |
17: 35,971,140 (GRCm39) |
L592R |
probably damaging |
Het |
Vipr2 |
T |
A |
12: 116,099,849 (GRCm39) |
C239S |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,428 (GRCm39) |
D68V |
probably damaging |
Het |
Vmn1r7 |
A |
T |
6: 57,001,373 (GRCm39) |
S296T |
probably benign |
Het |
Vmn2r95 |
T |
C |
17: 18,672,120 (GRCm39) |
I619T |
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 |
|
IGL02619:Naa15
|
APN |
3 |
51,367,552 (GRCm39) |
missense |
probably benign |
0.03 |
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 |