Incidental Mutation 'R5087:Naa15'
| ID |
387496 |
| 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 |
042676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R5087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 51364706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000029303]
[ENSMUST00000193266]
[ENSMUST00000193266]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029303
|
| SMART Domains |
Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
| 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: ENSMUST00000029303
|
| SMART Domains |
Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
| 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 |
probably null
Transcript: ENSMUST00000193266
|
| SMART Domains |
Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (66/67) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
G |
1: 9,631,851 (GRCm39) |
|
probably benign |
Het |
| Anln |
T |
C |
9: 22,286,340 (GRCm39) |
T322A |
possibly damaging |
Het |
| Best3 |
A |
T |
10: 116,844,907 (GRCm39) |
Y354F |
probably benign |
Het |
| Cd44 |
C |
T |
2: 102,661,699 (GRCm39) |
V509I |
possibly damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,184,315 (GRCm39) |
N529S |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,378 (GRCm39) |
D614G |
possibly damaging |
Het |
| Cpq |
T |
C |
15: 33,213,008 (GRCm39) |
I9T |
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,419,936 (GRCm39) |
H265R |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,168,621 (GRCm39) |
M458K |
probably damaging |
Het |
| Disc1 |
A |
C |
8: 125,858,899 (GRCm39) |
I454L |
probably benign |
Het |
| Dnaja4 |
A |
G |
9: 54,607,023 (GRCm39) |
E4G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eipr1 |
C |
A |
12: 28,878,855 (GRCm39) |
N136K |
probably benign |
Het |
| Fut11 |
A |
G |
14: 20,746,229 (GRCm39) |
N357S |
probably damaging |
Het |
| Gbp2b |
C |
T |
3: 142,304,015 (GRCm39) |
P37S |
probably damaging |
Het |
| Ghr |
T |
G |
15: 3,349,622 (GRCm39) |
K519Q |
probably damaging |
Het |
| Gipr |
C |
A |
7: 18,893,689 (GRCm39) |
C328F |
probably damaging |
Het |
| Gm27013 |
A |
T |
6: 130,654,633 (GRCm39) |
N276K |
probably damaging |
Het |
| Got2 |
C |
A |
8: 96,598,951 (GRCm39) |
K150N |
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,744,033 (GRCm39) |
S189P |
possibly damaging |
Het |
| H2-T5 |
C |
A |
17: 36,476,308 (GRCm39) |
G347* |
probably null |
Het |
| Hells |
T |
C |
19: 38,932,189 (GRCm39) |
V153A |
probably benign |
Het |
| Ighd |
G |
A |
12: 113,378,047 (GRCm39) |
|
probably benign |
Het |
| Inhca |
C |
T |
9: 103,143,420 (GRCm39) |
V361M |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,145,973 (GRCm39) |
D725A |
possibly damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,204,151 (GRCm39) |
L414Q |
possibly damaging |
Het |
| Kat2b-ps |
A |
G |
5: 93,539,585 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc1 |
A |
T |
9: 77,364,740 (GRCm39) |
S192T |
probably benign |
Het |
| Mc2r |
A |
T |
18: 68,541,274 (GRCm39) |
N6K |
probably benign |
Het |
| Moxd2 |
A |
C |
6: 40,856,270 (GRCm39) |
L534W |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,146,235 (GRCm39) |
D1431V |
probably damaging |
Het |
| Naa16 |
G |
A |
14: 79,614,855 (GRCm39) |
T215I |
possibly damaging |
Het |
| Ntng1 |
A |
T |
3: 110,042,645 (GRCm39) |
Y60* |
probably null |
Het |
| Or1e29 |
T |
C |
11: 73,668,084 (GRCm39) |
Y23C |
possibly damaging |
Het |
| Or2g25 |
A |
T |
17: 37,970,612 (GRCm39) |
V204E |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,867,296 (GRCm39) |
|
probably benign |
Het |
| Pcnx1 |
C |
A |
12: 82,041,713 (GRCm39) |
P2115Q |
probably damaging |
Het |
| Pfkfb3 |
G |
A |
2: 11,488,825 (GRCm39) |
T313I |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,178,731 (GRCm39) |
N875S |
probably damaging |
Het |
| Ptpn20 |
A |
T |
14: 33,336,398 (GRCm39) |
D79V |
possibly damaging |
Het |
| Rabgap1l |
C |
A |
1: 160,549,809 (GRCm39) |
V266L |
probably damaging |
Het |
| Reep6 |
A |
G |
10: 80,171,009 (GRCm39) |
D295G |
probably damaging |
Het |
| Sass6 |
T |
C |
3: 116,403,947 (GRCm39) |
L195P |
probably damaging |
Het |
| Slc25a27 |
A |
G |
17: 43,977,821 (GRCm39) |
S25P |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,454,011 (GRCm39) |
M57K |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,465,405 (GRCm39) |
V71A |
possibly damaging |
Het |
| Stab1 |
G |
A |
14: 30,881,261 (GRCm39) |
L590F |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,527,500 (GRCm39) |
Y1252* |
probably null |
Het |
| Syde2 |
T |
A |
3: 145,712,881 (GRCm39) |
D1006E |
probably damaging |
Het |
| Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
G |
A |
7: 118,244,609 (GRCm39) |
A496T |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,566,704 (GRCm39) |
V28063A |
probably damaging |
Het |
| Usp25 |
A |
C |
16: 76,874,007 (GRCm39) |
I528L |
probably benign |
Het |
| Vmn1r58 |
C |
T |
7: 5,413,666 (GRCm39) |
S188N |
probably benign |
Het |
| Wfikkn2 |
A |
T |
11: 94,129,173 (GRCm39) |
C323S |
probably damaging |
Het |
| Zfy1 |
A |
C |
Y: 732,964 (GRCm39) |
S290A |
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 |
|
|
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'- GGAGAGTTCCGTCCAACCTC -3'
(R):5'- ACAAAGTCAATTATGGTGTTGATGC -3'
Sequencing Primer
(F):5'- CCCCTAGTACTGGAAGTAGAAGTTC -3'
(R):5'- TGGTGTTGATGCTCAAAAACC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation