Incidental Mutation 'R6984:Naa15'
| ID |
542827 |
| 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 |
045091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51380021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 750
(T750A)
|
| 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: T800A
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
AA Change: T800A
| 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: ENSMUST00000193266
AA Change: T750A
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
AA Change: T750A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,383,937 (GRCm39) |
V676A |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,891,012 (GRCm39) |
M495T |
possibly damaging |
Het |
| Aktip |
A |
T |
8: 91,853,346 (GRCm39) |
F124I |
probably damaging |
Het |
| Alpk2 |
C |
A |
18: 65,438,749 (GRCm39) |
Q1348H |
possibly damaging |
Het |
| Apol11b |
T |
C |
15: 77,519,546 (GRCm39) |
D178G |
probably benign |
Het |
| Asb15 |
A |
T |
6: 24,566,336 (GRCm39) |
I430F |
probably benign |
Het |
| Chd2 |
A |
C |
7: 73,134,159 (GRCm39) |
Y729* |
probably null |
Het |
| Cpb2 |
T |
C |
14: 75,502,898 (GRCm39) |
V159A |
possibly damaging |
Het |
| Csf2rb |
A |
G |
15: 78,229,719 (GRCm39) |
S429G |
probably damaging |
Het |
| Ctsw |
C |
T |
19: 5,516,646 (GRCm39) |
R133H |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,485 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,958,712 (GRCm39) |
G2185R |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Enthd1 |
A |
T |
15: 80,444,309 (GRCm39) |
I82N |
probably damaging |
Het |
| Epx |
T |
A |
11: 87,759,424 (GRCm39) |
D555V |
probably damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,351,823 (GRCm39) |
D1134A |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,702,734 (GRCm39) |
V82D |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,665,238 (GRCm39) |
F960I |
probably damaging |
Het |
| Gsdmc2 |
A |
T |
15: 63,696,898 (GRCm39) |
Y424* |
probably null |
Het |
| Hsd3b7 |
T |
A |
7: 127,400,717 (GRCm39) |
I57N |
probably damaging |
Het |
| Ighv10-1 |
A |
T |
12: 114,442,702 (GRCm39) |
D94E |
possibly damaging |
Het |
| Ighv3-3 |
A |
G |
12: 114,160,350 (GRCm39) |
V20A |
possibly damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,126,433 (GRCm39) |
C220F |
probably benign |
Het |
| Kctd16 |
G |
A |
18: 40,390,101 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,753 (GRCm39) |
K632E |
unknown |
Het |
| Lama1 |
G |
A |
17: 68,086,107 (GRCm39) |
V1449M |
|
Het |
| Lgr6 |
A |
G |
1: 134,915,740 (GRCm39) |
I336T |
possibly damaging |
Het |
| Lrp1b |
A |
C |
2: 40,712,640 (GRCm39) |
D3117E |
probably damaging |
Het |
| Lrrc4b |
A |
T |
7: 44,110,722 (GRCm39) |
E198V |
possibly damaging |
Het |
| Map2 |
A |
T |
1: 66,454,395 (GRCm39) |
D1095V |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,217,072 (GRCm39) |
S417T |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,368 (GRCm39) |
V94A |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,593,734 (GRCm39) |
I637V |
probably benign |
Het |
| Mpp7 |
C |
T |
18: 7,441,623 (GRCm39) |
G182D |
probably damaging |
Het |
| Myh15 |
G |
A |
16: 48,930,775 (GRCm39) |
G583D |
probably damaging |
Het |
| Or10d5b |
C |
T |
9: 39,886,030 (GRCm39) |
V30I |
unknown |
Het |
| Or10v5 |
T |
A |
19: 11,805,668 (GRCm39) |
T241S |
probably damaging |
Het |
| Or1e30 |
G |
A |
11: 73,678,603 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pgm1 |
A |
T |
4: 99,786,851 (GRCm39) |
Q30L |
probably benign |
Het |
| Pi4kb |
C |
T |
3: 94,904,245 (GRCm39) |
R238C |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,527 (GRCm39) |
E3497G |
probably damaging |
Het |
| Plpp4 |
C |
T |
7: 128,992,616 (GRCm39) |
A218V |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,667,392 (GRCm39) |
A1094V |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,191 (GRCm39) |
D154V |
probably benign |
Het |
| Prrt4 |
G |
T |
6: 29,171,429 (GRCm39) |
P341Q |
probably benign |
Het |
| Psd3 |
A |
G |
8: 68,270,697 (GRCm39) |
V21A |
possibly damaging |
Het |
| Rhot1 |
T |
A |
11: 80,124,310 (GRCm39) |
C157* |
probably null |
Het |
| Rnase9 |
C |
T |
14: 51,276,673 (GRCm39) |
V102M |
probably benign |
Het |
| Rpgrip1l |
A |
C |
8: 91,987,426 (GRCm39) |
M877R |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,705,436 (GRCm39) |
Y806C |
probably damaging |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Sympk |
A |
G |
7: 18,771,968 (GRCm39) |
D344G |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 71,914,041 (GRCm39) |
Q76* |
probably null |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Ttc19 |
A |
G |
11: 62,204,863 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,533 (GRCm39) |
D610E |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,047,209 (GRCm39) |
T701A |
possibly damaging |
Het |
| Zfp268 |
T |
C |
4: 145,347,186 (GRCm39) |
L30P |
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 |
|
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 |
|
|
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 |
|
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'- AAGTTGTGTGCTTGCTCAAAG -3'
(R):5'- GCAGAACTATCTCCGTTCACTG -3'
Sequencing Primer
(F):5'- CATATTCTTGTCTCTTTCTTTTTGGC -3'
(R):5'- AGAACTATCTCCGTTCACTGTGATC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation