Incidental Mutation 'R1348:Naa15'
ID |
156553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naa15
|
Ensembl Gene |
ENSMUSG00000063273 |
Gene Name |
N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
Synonyms |
Narg1, 5730450D16Rik, ASTBDN, Tbdn-1, tubedown, mNAT1 |
MMRRC Submission |
039413-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R1348 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 51373091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tryptophan
at position 661
(C661W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141433
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000193266]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029303
AA Change: C711W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: C711W
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 damaging
Transcript: ENSMUST00000193266
AA Change: C661W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: C661W
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: ENSMUST00000193267
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193694
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194685
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 87.2%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
G |
17: 24,593,212 (GRCm39) |
|
probably null |
Het |
Art1 |
G |
A |
7: 101,756,579 (GRCm39) |
A33T |
possibly damaging |
Het |
Aspa |
G |
A |
11: 73,215,309 (GRCm39) |
T2I |
probably damaging |
Het |
Cntn1 |
C |
T |
15: 92,212,544 (GRCm39) |
T902I |
probably damaging |
Het |
Dpep1 |
G |
A |
8: 123,925,899 (GRCm39) |
C118Y |
probably benign |
Het |
Garin1a |
A |
G |
6: 29,283,284 (GRCm39) |
H36R |
probably benign |
Het |
Gucy2g |
C |
T |
19: 55,211,338 (GRCm39) |
V631I |
possibly damaging |
Het |
Igf1r |
C |
G |
7: 67,868,216 (GRCm39) |
N1220K |
probably damaging |
Het |
Insr |
A |
T |
8: 3,242,635 (GRCm39) |
I28N |
probably damaging |
Het |
Katnal2 |
T |
C |
18: 77,066,238 (GRCm39) |
|
probably null |
Het |
Klrb1a |
T |
C |
6: 128,586,797 (GRCm39) |
D156G |
possibly damaging |
Het |
Kpna6 |
G |
A |
4: 129,555,152 (GRCm39) |
R26* |
probably null |
Het |
Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
Or10g7 |
T |
C |
9: 39,905,124 (GRCm39) |
I6T |
probably benign |
Het |
Or1e1 |
G |
T |
11: 73,244,682 (GRCm39) |
M34I |
probably benign |
Het |
Or8g20 |
A |
G |
9: 39,396,532 (GRCm39) |
S3P |
probably benign |
Het |
Paxbp1 |
A |
G |
16: 90,831,904 (GRCm39) |
V328A |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,784,806 (GRCm39) |
T1993A |
probably benign |
Het |
Pold1 |
C |
T |
7: 44,184,106 (GRCm39) |
V865I |
probably benign |
Het |
Racgap1 |
A |
G |
15: 99,524,246 (GRCm39) |
I387T |
possibly damaging |
Het |
Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
Rbms2 |
C |
T |
10: 128,012,214 (GRCm39) |
|
probably null |
Het |
Recql4 |
A |
G |
15: 76,593,411 (GRCm39) |
I140T |
probably benign |
Het |
Shld2 |
T |
A |
14: 33,990,880 (GRCm39) |
I9F |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,911,708 (GRCm39) |
|
probably null |
Het |
Speg |
G |
A |
1: 75,399,516 (GRCm39) |
G2321D |
probably damaging |
Het |
Trp53tg5 |
A |
G |
2: 164,315,521 (GRCm39) |
|
probably null |
Het |
Tyw3 |
A |
C |
3: 154,299,451 (GRCm39) |
M86R |
possibly damaging |
Het |
Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
Zfp472 |
T |
A |
17: 33,196,794 (GRCm39) |
F290I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTTGTATGGTCCTTGGCCTTTCCA -3'
(R):5'- AAGGCGACTCCCAAATCCTTGTAAC -3'
Sequencing Primer
(F):5'- TTGGCCTTTCCAGGAAGGAC -3'
(R):5'- ccagggctacacagagaaac -3'
|
Posted On |
2014-02-11 |