Incidental Mutation 'R9701:Naa15'
| ID |
729550 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R9701 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 51349370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 96
(Y96*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000192419]
[ENSMUST00000193266]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029303
AA Change: Y96*
|
| SMART Domains |
Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
AA Change: Y96*
| 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 null
Transcript: ENSMUST00000192197
AA Change: Y14*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192419
AA Change: Y46*
|
| SMART Domains |
Protein: ENSMUSP00000141965
Gene: ENSMUSG00000063273
AA Change: Y46*
| 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 |
probably null
Transcript: ENSMUST00000193266
AA Change: Y46*
|
| SMART Domains |
Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
AA Change: Y46*
| 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: 99.7%
- 20x: 98.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,786,054 (GRCm39) |
D673G |
probably benign |
Het |
| Alg8 |
T |
A |
7: 97,027,486 (GRCm39) |
V118E |
possibly damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,875,563 (GRCm39) |
V218A |
probably benign |
Het |
| Armc12 |
A |
T |
17: 28,751,375 (GRCm39) |
D123V |
probably damaging |
Het |
| Bltp3b |
G |
A |
10: 89,615,755 (GRCm39) |
V133I |
probably benign |
Het |
| Bms1 |
T |
A |
6: 118,368,147 (GRCm39) |
K1039I |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,493,104 (GRCm39) |
N1299S |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,343,169 (GRCm39) |
D405G |
probably damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,430,454 (GRCm39) |
Q262L |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,298,244 (GRCm39) |
D596G |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,561,388 (GRCm39) |
C2090S |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,846,384 (GRCm39) |
D1749G |
unknown |
Het |
| Dock9 |
A |
T |
14: 121,876,983 (GRCm39) |
C463S |
probably benign |
Het |
| Dyrk1b |
G |
A |
7: 27,885,838 (GRCm39) |
R548Q |
probably damaging |
Het |
| Egr1 |
T |
C |
18: 34,995,674 (GRCm39) |
F152S |
probably damaging |
Het |
| Eln |
C |
A |
5: 134,744,559 (GRCm39) |
A479S |
unknown |
Het |
| Gm973 |
T |
A |
1: 59,566,032 (GRCm39) |
W84R |
possibly damaging |
Het |
| Gnpat |
A |
G |
8: 125,613,678 (GRCm39) |
K642E |
probably benign |
Het |
| Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
| Gpx6 |
A |
T |
13: 21,501,777 (GRCm39) |
Q133L |
probably benign |
Het |
| Gzmn |
T |
C |
14: 56,405,310 (GRCm39) |
Y58C |
probably benign |
Het |
| Hcfc2 |
G |
T |
10: 82,574,269 (GRCm39) |
G148* |
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,664,649 (GRCm39) |
R368* |
probably null |
Het |
| Igkv3-10 |
T |
C |
6: 70,550,001 (GRCm39) |
V49A |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,060,745 (GRCm39) |
I852F |
possibly damaging |
Het |
| Lhx5 |
T |
A |
5: 120,572,663 (GRCm39) |
V94E |
possibly damaging |
Het |
| Map1s |
C |
T |
8: 71,369,712 (GRCm39) |
T928I |
possibly damaging |
Het |
| Mib1 |
T |
A |
18: 10,798,494 (GRCm39) |
L785H |
probably damaging |
Het |
| Mrgpra6 |
C |
T |
7: 46,835,533 (GRCm39) |
R296K |
probably benign |
Het |
| Mrpl9 |
A |
G |
3: 94,351,892 (GRCm39) |
|
probably null |
Het |
| Mutyh |
A |
G |
4: 116,676,485 (GRCm39) |
S486G |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 70,987,946 (GRCm39) |
S1175G |
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,840,211 (GRCm39) |
D1132E |
probably benign |
Het |
| Nxf1 |
G |
A |
19: 8,739,772 (GRCm39) |
G42D |
probably damaging |
Het |
| Or13j1 |
C |
A |
4: 43,705,793 (GRCm39) |
M258I |
probably benign |
Het |
| Plekhg6 |
C |
T |
6: 125,347,602 (GRCm39) |
V451I |
probably benign |
Het |
| Prkab1 |
T |
C |
5: 116,162,274 (GRCm39) |
E12G |
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,916,896 (GRCm39) |
Y752H |
probably damaging |
Het |
| Rbm12 |
A |
G |
2: 155,938,166 (GRCm39) |
I702T |
probably benign |
Het |
| Rnf212 |
A |
G |
5: 108,922,738 (GRCm39) |
|
probably null |
Het |
| Sall3 |
C |
A |
18: 81,017,443 (GRCm39) |
A162S |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,063,321 (GRCm39) |
S13P |
probably damaging |
Het |
| Serpina16 |
T |
C |
12: 103,638,873 (GRCm39) |
Q238R |
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skint3 |
T |
A |
4: 112,111,094 (GRCm39) |
V73E |
probably damaging |
Het |
| Slc6a20a |
T |
A |
9: 123,489,585 (GRCm39) |
T153S |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,700,478 (GRCm39) |
Y69H |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 42,003,766 (GRCm39) |
Y177H |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,433,559 (GRCm39) |
Y346C |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,037,197 (GRCm39) |
E3792G |
probably damaging |
Het |
| Tg |
C |
G |
15: 66,637,991 (GRCm39) |
T2268S |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,716 (GRCm39) |
N721S |
probably benign |
Het |
| Treh |
A |
G |
9: 44,594,648 (GRCm39) |
Y275C |
probably damaging |
Het |
| Trpv5 |
G |
T |
6: 41,651,594 (GRCm39) |
H195N |
possibly damaging |
Het |
| Tshz1 |
A |
G |
18: 84,032,579 (GRCm39) |
S610P |
possibly damaging |
Het |
| Ttll4 |
A |
G |
1: 74,720,482 (GRCm39) |
N499S |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,748,927 (GRCm39) |
H4041N |
probably benign |
Het |
| Ubtf |
A |
G |
11: 102,199,718 (GRCm39) |
|
probably null |
Het |
| Urod |
C |
T |
4: 116,849,778 (GRCm39) |
V207M |
probably damaging |
Het |
| Vegfa |
G |
A |
17: 46,342,713 (GRCm39) |
P35L |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,676,505 (GRCm39) |
P749L |
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 |
|
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 |
|
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'- GACCTAAGGCTATCTGTCTCTG -3'
(R):5'- AGATGTAATCACTAAGGGGCAGTC -3'
Sequencing Primer
(F):5'- CTAAGTATTGGGATTAAAGGCTGTC -3'
(R):5'- ACCCTATAGCCCTCAAGATC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation