Incidental Mutation 'R5139:Naa15'
| ID |
396334 |
| 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 |
042725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R5139 (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 51351261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 144
(L144I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000192419]
[ENSMUST00000193266]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029303
AA Change: L194I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
AA Change: L194I
| 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
AA Change: L112I
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192419
|
| SMART Domains |
Protein: ENSMUSP00000141965
Gene: ENSMUSG00000063273
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
1 |
29 |
8e-12 |
BLAST |
|
Pfam:TPR_2
|
30 |
63 |
3.4e-5 |
PFAM |
|
Pfam:TPR_8
|
30 |
63 |
2.6e-4 |
PFAM |
|
Pfam:TPR_11
|
31 |
95 |
4.8e-7 |
PFAM |
|
Pfam:TPR_7
|
32 |
65 |
1.5e-2 |
PFAM |
|
Pfam:TPR_1
|
37 |
63 |
1.6e-4 |
PFAM |
|
Pfam:TPR_9
|
38 |
85 |
1e-2 |
PFAM |
|
Pfam:TPR_9
|
88 |
126 |
1.2e0 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192523
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193266
AA Change: L144I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
AA Change: L144I
| 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: ENSMUST00000195430
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,905 (GRCm39) |
L625P |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,027 (GRCm39) |
S598P |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,982,019 (GRCm39) |
D1101A |
probably damaging |
Het |
| Aoah |
T |
C |
13: 21,207,407 (GRCm39) |
V542A |
possibly damaging |
Het |
| Aox1 |
T |
C |
1: 58,100,456 (GRCm39) |
S418P |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,669,112 (GRCm39) |
I354T |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,475,884 (GRCm39) |
E216G |
possibly damaging |
Het |
| Bnip3l |
A |
G |
14: 67,237,064 (GRCm39) |
S63P |
probably damaging |
Het |
| Cckar |
T |
C |
5: 53,860,265 (GRCm39) |
N188S |
probably benign |
Het |
| Ccl24 |
C |
T |
5: 135,601,775 (GRCm39) |
A18T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,569 (GRCm39) |
C840R |
probably benign |
Het |
| Copa |
C |
T |
1: 171,948,896 (GRCm39) |
R1183W |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,876,024 (GRCm39) |
V2621A |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,248,061 (GRCm39) |
Y1019H |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,773,508 (GRCm39) |
Y943H |
probably damaging |
Het |
| Ighv3-8 |
T |
C |
12: 114,285,994 (GRCm39) |
Y116C |
probably damaging |
Het |
| Igkv4-70 |
G |
A |
6: 69,245,089 (GRCm39) |
T44I |
probably damaging |
Het |
| Lce3c |
G |
A |
3: 92,852,778 (GRCm39) |
G80S |
unknown |
Het |
| Ldhb |
A |
T |
6: 142,439,921 (GRCm39) |
N206K |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,354,411 (GRCm39) |
|
probably null |
Het |
| Myh2 |
T |
C |
11: 67,070,174 (GRCm39) |
L402P |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,534,384 (GRCm39) |
I2918F |
possibly damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,000 (GRCm39) |
H64Q |
probably benign |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pdlim7 |
A |
G |
13: 55,654,869 (GRCm39) |
S214P |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,099,773 (GRCm39) |
D49G |
probably damaging |
Het |
| Polr2f |
C |
A |
15: 79,035,858 (GRCm39) |
D106E |
possibly damaging |
Het |
| Ppp6r3 |
A |
C |
19: 3,514,610 (GRCm39) |
N766K |
probably damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,049 (GRCm39) |
D220V |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,433,203 (GRCm39) |
N341I |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,247,511 (GRCm39) |
K497E |
possibly damaging |
Het |
| Sfswap |
T |
G |
5: 129,648,073 (GRCm39) |
M927R |
possibly damaging |
Het |
| Smad9 |
T |
G |
3: 54,704,827 (GRCm39) |
W400G |
possibly damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tesmin |
A |
G |
19: 3,456,934 (GRCm39) |
I238V |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,100,133 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
A |
T |
3: 36,725,706 (GRCm39) |
M90K |
possibly damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,450 (GRCm39) |
T813I |
probably benign |
Het |
| Tub |
T |
A |
7: 108,610,309 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy3 |
A |
T |
5: 101,997,133 (GRCm39) |
|
probably null |
Het |
| Zfp853 |
T |
C |
5: 143,274,570 (GRCm39) |
Q350R |
unknown |
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 |
|
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 |
|
|
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'- ATTTGCATTCTGCTGCTAGC -3'
(R):5'- GAACTATGAATTTTCAGCCTGCC -3'
Sequencing Primer
(F):5'- ACTTATTGCTGATACTGCTGTTAC -3'
(R):5'- ATGAATTTTCAGCCTGCCACTGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation