Incidental Mutation 'R1941:Naa15'
ID |
213989 |
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 |
039959-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R1941 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 51363355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 346
(Y346*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141433
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000193266]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000029303
AA Change: Y396*
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: Y396*
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 null
Transcript: ENSMUST00000193266
AA Change: Y346*
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: Y346*
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 |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.8%
- 20x: 91.1%
|
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 |
Art2b |
A |
C |
7: 101,229,524 (GRCm39) |
F125C |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,159,612 (GRCm39) |
Y1616C |
probably damaging |
Het |
Cep162 |
T |
G |
9: 87,082,048 (GRCm39) |
I1286L |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,703,697 (GRCm39) |
|
probably null |
Het |
Col11a2 |
T |
A |
17: 34,263,925 (GRCm39) |
S247T |
probably benign |
Het |
Col6a4 |
T |
G |
9: 105,952,209 (GRCm39) |
D563A |
probably benign |
Het |
Crebbp |
C |
T |
16: 3,997,555 (GRCm39) |
M176I |
probably benign |
Het |
Cyp4a12b |
A |
G |
4: 115,295,256 (GRCm39) |
N454S |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,643,024 (GRCm39) |
|
probably null |
Het |
Dock7 |
G |
A |
4: 98,872,952 (GRCm39) |
L1165F |
probably benign |
Het |
Fam117a |
A |
T |
11: 95,271,624 (GRCm39) |
N399Y |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,195,488 (GRCm39) |
K396R |
unknown |
Het |
Foxk1 |
T |
A |
5: 142,442,429 (GRCm39) |
V693E |
possibly damaging |
Het |
Gml |
A |
G |
15: 74,689,020 (GRCm39) |
L10P |
probably damaging |
Het |
Gpx8 |
A |
G |
13: 113,182,809 (GRCm39) |
L34P |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,684,162 (GRCm39) |
L689P |
possibly damaging |
Het |
Mt4 |
G |
A |
8: 94,864,874 (GRCm39) |
C16Y |
possibly damaging |
Het |
Ntrk3 |
C |
T |
7: 77,897,010 (GRCm39) |
V676I |
probably damaging |
Het |
Oasl2 |
G |
A |
5: 115,049,423 (GRCm39) |
|
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,447 (GRCm39) |
F294I |
probably damaging |
Het |
Or6c215 |
T |
A |
10: 129,638,281 (GRCm39) |
M38L |
probably benign |
Het |
Or6c8 |
T |
G |
10: 128,915,823 (GRCm39) |
N3T |
probably damaging |
Het |
Or7e169 |
G |
A |
9: 19,757,246 (GRCm39) |
S223F |
probably damaging |
Het |
Or7g20 |
A |
C |
9: 18,947,162 (GRCm39) |
T248P |
possibly damaging |
Het |
Otud7a |
C |
T |
7: 63,379,574 (GRCm39) |
R273* |
probably null |
Het |
Pcare |
T |
G |
17: 72,059,063 (GRCm39) |
T205P |
probably damaging |
Het |
Pde11a |
C |
T |
2: 76,121,594 (GRCm39) |
R329Q |
probably benign |
Het |
Pga5 |
G |
T |
19: 10,646,820 (GRCm39) |
|
probably null |
Het |
Ppp1r1a |
A |
G |
15: 103,441,528 (GRCm39) |
|
probably null |
Het |
Pus10 |
A |
G |
11: 23,661,198 (GRCm39) |
Q262R |
possibly damaging |
Het |
Rbm17 |
T |
C |
2: 11,593,885 (GRCm39) |
K241R |
possibly damaging |
Het |
Rp1l1 |
T |
G |
14: 64,259,701 (GRCm39) |
D114E |
probably damaging |
Het |
Safb |
T |
A |
17: 56,905,992 (GRCm39) |
|
probably benign |
Het |
Sgpl1 |
T |
C |
10: 60,939,086 (GRCm39) |
Y371C |
probably damaging |
Het |
Siglec1 |
C |
A |
2: 130,920,051 (GRCm39) |
A827S |
possibly damaging |
Het |
Smg5 |
T |
A |
3: 88,252,687 (GRCm39) |
S158T |
possibly damaging |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Spaca6 |
A |
G |
17: 18,058,664 (GRCm39) |
I71V |
probably benign |
Het |
Spaca6 |
A |
G |
17: 18,058,692 (GRCm39) |
E80G |
probably damaging |
Het |
Steap1 |
C |
A |
5: 5,790,541 (GRCm39) |
A136S |
probably damaging |
Het |
Supv3l1 |
G |
C |
10: 62,285,391 (GRCm39) |
P25R |
probably benign |
Het |
Tex21 |
T |
C |
12: 76,268,458 (GRCm39) |
K108R |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,933,201 (GRCm39) |
Y688H |
probably damaging |
Het |
Tnr |
G |
A |
1: 159,677,704 (GRCm39) |
E30K |
possibly damaging |
Het |
Tnrc18 |
G |
T |
5: 142,800,905 (GRCm39) |
P18T |
probably damaging |
Het |
Ttk |
T |
G |
9: 83,735,179 (GRCm39) |
S422A |
probably benign |
Het |
Ubap1 |
A |
G |
4: 41,378,968 (GRCm39) |
K61E |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,284,952 (GRCm39) |
R522H |
probably damaging |
Het |
Vwf |
A |
T |
6: 125,616,242 (GRCm39) |
E1185D |
possibly damaging |
Het |
Wwp2 |
A |
G |
8: 108,244,547 (GRCm39) |
T194A |
probably benign |
Het |
Zfp36 |
A |
G |
7: 28,077,071 (GRCm39) |
V279A |
probably damaging |
Het |
Zfp870 |
C |
A |
17: 33,101,778 (GRCm39) |
R517L |
possibly 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 |
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 |
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'- AGGTCTTAAATGTGCTTAGCTGTAG -3'
(R):5'- AAATGTGGCTATGACAAGTCCAAG -3'
Sequencing Primer
(F):5'- AATGTGCTTAGCTGTAGATTATAGC -3'
(R):5'- CCTTATAAGGAAAGGGGGGT -3'
|
Posted On |
2014-07-14 |