Incidental Mutation 'R0411:Naa15'
ID |
36642 |
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 |
038613-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R0411 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51373060 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 701
(I701N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000193266]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029303
AA Change: I701N
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: I701N
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: I651N
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: I651N
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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
97% (66/68) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
A |
G |
5: 64,053,834 (GRCm39) |
|
probably benign |
Het |
6030469F06Rik |
A |
T |
12: 31,234,730 (GRCm39) |
|
noncoding transcript |
Het |
Acad11 |
T |
C |
9: 103,993,495 (GRCm39) |
F541L |
probably damaging |
Het |
Acin1 |
G |
T |
14: 54,884,231 (GRCm39) |
R92S |
probably damaging |
Het |
Appl1 |
A |
G |
14: 26,662,213 (GRCm39) |
S490P |
probably benign |
Het |
Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
Arih1 |
A |
T |
9: 59,393,266 (GRCm39) |
I122N |
possibly damaging |
Het |
Bmi1 |
T |
C |
2: 18,687,983 (GRCm39) |
|
probably benign |
Het |
Bmpr1a |
G |
A |
14: 34,137,834 (GRCm39) |
T391I |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 136,041,041 (GRCm39) |
K1256E |
probably damaging |
Het |
Cacng3 |
C |
T |
7: 122,367,795 (GRCm39) |
P225L |
probably damaging |
Het |
Cd101 |
A |
T |
3: 100,925,843 (GRCm39) |
|
probably null |
Het |
Cd55 |
A |
G |
1: 130,390,294 (GRCm39) |
|
probably benign |
Het |
Cenpe |
T |
C |
3: 134,928,016 (GRCm39) |
I258T |
probably damaging |
Het |
Cfap251 |
C |
T |
5: 123,428,117 (GRCm39) |
T538M |
probably damaging |
Het |
Cma2 |
A |
G |
14: 56,211,135 (GRCm39) |
|
probably benign |
Het |
Ddost |
T |
A |
4: 138,036,964 (GRCm39) |
S176T |
probably benign |
Het |
Ddx19b |
A |
T |
8: 111,750,596 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
A |
G |
9: 54,286,223 (GRCm39) |
I2681T |
probably damaging |
Het |
Ern1 |
C |
T |
11: 106,289,412 (GRCm39) |
E964K |
probably benign |
Het |
Exoc1l |
G |
T |
5: 76,648,334 (GRCm39) |
V47L |
possibly damaging |
Het |
Galntl5 |
C |
T |
5: 25,425,172 (GRCm39) |
R430C |
probably benign |
Het |
Gga3 |
A |
G |
11: 115,478,259 (GRCm39) |
L511P |
probably damaging |
Het |
Gria2 |
C |
T |
3: 80,618,165 (GRCm39) |
|
probably benign |
Het |
Hmbs |
A |
T |
9: 44,252,949 (GRCm39) |
L28* |
probably null |
Het |
Iffo2 |
A |
G |
4: 139,330,532 (GRCm39) |
E220G |
probably damaging |
Het |
Ifi30 |
A |
G |
8: 71,217,562 (GRCm39) |
|
probably benign |
Het |
Irf2 |
T |
A |
8: 47,299,096 (GRCm39) |
C297S |
probably benign |
Het |
Izumo4 |
T |
C |
10: 80,538,918 (GRCm39) |
Y94H |
probably damaging |
Het |
Klhdc9 |
A |
G |
1: 171,187,353 (GRCm39) |
V215A |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,731,261 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,580,955 (GRCm39) |
C513S |
probably damaging |
Het |
Lyg1 |
A |
T |
1: 37,988,977 (GRCm39) |
M81K |
possibly damaging |
Het |
Maip1 |
T |
G |
1: 57,454,852 (GRCm39) |
W279G |
probably damaging |
Het |
Myo7a |
T |
C |
7: 97,721,144 (GRCm39) |
T1263A |
probably benign |
Het |
Ncoa3 |
A |
G |
2: 165,910,463 (GRCm39) |
N1292S |
probably benign |
Het |
Necab2 |
T |
A |
8: 120,180,979 (GRCm39) |
|
probably benign |
Het |
Nfatc1 |
T |
A |
18: 80,741,257 (GRCm39) |
I234F |
possibly damaging |
Het |
Olfm1 |
G |
A |
2: 28,098,223 (GRCm39) |
R95K |
possibly damaging |
Het |
Or10ag56 |
A |
G |
2: 87,139,402 (GRCm39) |
T90A |
probably benign |
Het |
Or10ak8 |
A |
T |
4: 118,773,823 (GRCm39) |
N280K |
possibly damaging |
Het |
Otoa |
T |
C |
7: 120,755,750 (GRCm39) |
|
probably null |
Het |
Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
Pard6g |
A |
G |
18: 80,160,337 (GRCm39) |
D150G |
probably damaging |
Het |
Pax5 |
A |
G |
4: 44,609,783 (GRCm39) |
L215S |
probably damaging |
Het |
Pja2 |
A |
T |
17: 64,594,516 (GRCm39) |
|
probably benign |
Het |
Plk4 |
T |
A |
3: 40,765,654 (GRCm39) |
|
probably benign |
Het |
Polr1a |
A |
T |
6: 71,955,405 (GRCm39) |
H1687L |
possibly damaging |
Het |
Ptcd2 |
G |
A |
13: 99,479,899 (GRCm39) |
L41F |
probably damaging |
Het |
Ropn1 |
T |
A |
16: 34,490,334 (GRCm39) |
S62T |
probably benign |
Het |
Setd1a |
T |
C |
7: 127,395,223 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
T |
C |
3: 95,234,997 (GRCm39) |
D902G |
probably damaging |
Het |
Sik3 |
T |
A |
9: 46,120,068 (GRCm39) |
L719Q |
probably damaging |
Het |
Slc36a1 |
G |
T |
11: 55,123,333 (GRCm39) |
V433F |
probably benign |
Het |
Slc6a3 |
T |
C |
13: 73,705,169 (GRCm39) |
V220A |
possibly damaging |
Het |
Slc6a5 |
A |
T |
7: 49,561,539 (GRCm39) |
R24W |
probably damaging |
Het |
Smox |
G |
T |
2: 131,362,564 (GRCm39) |
R281L |
probably benign |
Het |
Sulf2 |
G |
T |
2: 165,935,436 (GRCm39) |
H226N |
probably damaging |
Het |
Syne2 |
C |
T |
12: 76,106,358 (GRCm39) |
|
probably null |
Het |
Tenm3 |
C |
T |
8: 48,740,826 (GRCm39) |
S1210N |
possibly damaging |
Het |
Tns1 |
A |
T |
1: 73,964,920 (GRCm39) |
V1237E |
probably damaging |
Het |
Trf |
C |
T |
9: 103,094,700 (GRCm39) |
V92M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,539,717 (GRCm39) |
V34423A |
possibly damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,918,021 (GRCm39) |
|
probably benign |
Het |
Vmn2r19 |
A |
G |
6: 123,286,703 (GRCm39) |
Y112C |
probably damaging |
Het |
Zfp326 |
G |
T |
5: 106,026,641 (GRCm39) |
A15S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTTAGCAGAACCTCTTGAAGATGGT -3'
(R):5'- AAGGCGACTCCCAAATCCTTGTAAC -3'
Sequencing Primer
(F):5'- AGTGTTTGCTTCAAAAGTGTTAGAG -3'
(R):5'- ccagggctacacagagaaac -3'
|
Posted On |
2013-05-09 |