Incidental Mutation 'IGL02974:Naa15'
ID |
406291 |
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 # |
IGL02974
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51368628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 576
(K576R)
|
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: K626R
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: K626R
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 |
possibly damaging
Transcript: ENSMUST00000193266
AA Change: K576R
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: K576R
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730480H06Rik |
C |
T |
5: 48,545,479 (GRCm39) |
T242M |
probably damaging |
Het |
Abcg3 |
A |
T |
5: 105,116,129 (GRCm39) |
I235N |
probably damaging |
Het |
Agbl3 |
T |
C |
6: 34,776,757 (GRCm39) |
L416S |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,116,079 (GRCm39) |
D165G |
probably benign |
Het |
Aldh18a1 |
T |
A |
19: 40,557,528 (GRCm39) |
I341F |
probably damaging |
Het |
Amn |
T |
C |
12: 111,237,575 (GRCm39) |
V7A |
probably benign |
Het |
Apc |
C |
T |
18: 34,401,436 (GRCm39) |
|
probably benign |
Het |
Arg2 |
T |
C |
12: 79,197,566 (GRCm39) |
Y195H |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,191,800 (GRCm39) |
M22K |
probably benign |
Het |
Cacna1s |
T |
G |
1: 136,020,355 (GRCm39) |
N797K |
possibly damaging |
Het |
Chd8 |
T |
A |
14: 52,439,158 (GRCm39) |
|
probably null |
Het |
Clstn2 |
G |
A |
9: 97,414,760 (GRCm39) |
T378M |
probably damaging |
Het |
Elf2 |
A |
G |
3: 51,165,110 (GRCm39) |
V298A |
probably damaging |
Het |
Fbn1 |
C |
T |
2: 125,188,250 (GRCm39) |
D1530N |
probably null |
Het |
Fcrl2 |
A |
T |
3: 87,164,704 (GRCm39) |
I274N |
possibly damaging |
Het |
Fmo3 |
C |
T |
1: 162,810,619 (GRCm39) |
E24K |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,542,425 (GRCm39) |
N408K |
probably damaging |
Het |
Foxn2 |
A |
T |
17: 88,770,543 (GRCm39) |
N130I |
probably damaging |
Het |
Fscb |
T |
A |
12: 64,518,299 (GRCm39) |
I1056F |
unknown |
Het |
Gimap5 |
A |
C |
6: 48,730,311 (GRCm39) |
T294P |
possibly damaging |
Het |
Gm20489 |
T |
C |
X: 100,307,320 (GRCm39) |
Q11R |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 132,938,220 (GRCm39) |
T151A |
possibly damaging |
Het |
Gzmc |
T |
A |
14: 56,471,451 (GRCm39) |
H30L |
probably damaging |
Het |
Ints6l |
C |
A |
X: 55,552,296 (GRCm39) |
S845Y |
probably benign |
Het |
Iqcf3 |
A |
T |
9: 106,430,844 (GRCm39) |
C101* |
probably null |
Het |
Krt82 |
G |
A |
15: 101,459,020 (GRCm39) |
Q7* |
probably null |
Het |
L3mbtl1 |
A |
T |
2: 162,812,103 (GRCm39) |
H716L |
possibly damaging |
Het |
Lefty1 |
C |
A |
1: 180,762,842 (GRCm39) |
H56Q |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,390,885 (GRCm39) |
Y3004C |
probably damaging |
Het |
Lrp10 |
C |
A |
14: 54,705,341 (GRCm39) |
S177* |
probably null |
Het |
Naip2 |
A |
G |
13: 100,298,186 (GRCm39) |
S617P |
probably damaging |
Het |
Olfm1 |
T |
G |
2: 28,119,701 (GRCm39) |
N445K |
probably damaging |
Het |
Or4ac1-ps1 |
C |
T |
2: 88,370,579 (GRCm39) |
|
silent |
Het |
Or5b24 |
T |
G |
19: 12,912,399 (GRCm39) |
V99G |
probably benign |
Het |
Ostm1 |
T |
A |
10: 42,559,158 (GRCm39) |
N139K |
probably damaging |
Het |
Ovol1 |
A |
G |
19: 5,601,177 (GRCm39) |
Y205H |
probably damaging |
Het |
Pappa |
C |
T |
4: 65,123,172 (GRCm39) |
L836F |
probably damaging |
Het |
Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,636,637 (GRCm39) |
K229E |
probably benign |
Het |
Ppm1b |
T |
A |
17: 85,301,252 (GRCm39) |
V44E |
possibly damaging |
Het |
Rapgef1 |
T |
C |
2: 29,600,228 (GRCm39) |
F611L |
possibly damaging |
Het |
Rev3l |
T |
A |
10: 39,738,743 (GRCm39) |
Y2832* |
probably null |
Het |
Robo1 |
T |
A |
16: 72,803,750 (GRCm39) |
Y1099N |
probably benign |
Het |
Sf3b1 |
T |
C |
1: 55,046,866 (GRCm39) |
H226R |
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,579,553 (GRCm39) |
V570I |
probably damaging |
Het |
Slc27a1 |
C |
A |
8: 72,036,847 (GRCm39) |
A361D |
probably damaging |
Het |
Srp68 |
T |
C |
11: 116,137,051 (GRCm39) |
N549D |
probably benign |
Het |
Terb1 |
G |
T |
8: 105,221,600 (GRCm39) |
S202* |
probably null |
Het |
Tmc1 |
T |
A |
19: 20,878,208 (GRCm39) |
M96L |
probably benign |
Het |
Tmprss11d |
A |
G |
5: 86,454,235 (GRCm39) |
V190A |
probably damaging |
Het |
Ttll6 |
G |
A |
11: 96,047,528 (GRCm39) |
C709Y |
probably benign |
Het |
Uba1 |
A |
G |
X: 20,544,959 (GRCm39) |
H712R |
probably benign |
Het |
Unc80 |
A |
C |
1: 66,564,817 (GRCm39) |
T835P |
possibly damaging |
Het |
Vmn2r14 |
G |
A |
5: 109,369,292 (GRCm39) |
P94S |
possibly damaging |
Het |
Yes1 |
C |
T |
5: 32,818,112 (GRCm39) |
A383V |
probably damaging |
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 |
IGL02691:Naa15
|
APN |
3 |
51,358,747 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2016-08-02 |