Incidental Mutation 'R4377:Naa15'
| ID |
325129 |
| 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 |
041676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R4377 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51355786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 229
(I229T)
|
| 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: I279T
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
AA Change: I279T
| 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 |
unknown
Transcript: ENSMUST00000192197
AA Change: I211T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192523
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193266
AA Change: I229T
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
AA Change: I229T
| 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
|
| Meta Mutation Damage Score |
0.1465 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (57/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
A |
G |
14: 33,091,467 (GRCm39) |
M681V |
probably damaging |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,454,318 (GRCm39) |
L189P |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,108,196 (GRCm39) |
C384R |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,941,877 (GRCm39) |
L1380Q |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cenpp |
A |
G |
13: 49,647,907 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Csn1s2a |
T |
C |
5: 87,923,680 (GRCm39) |
V12A |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Frmd3 |
T |
A |
4: 74,046,535 (GRCm39) |
|
probably null |
Het |
| Gart |
G |
A |
16: 91,430,982 (GRCm39) |
A360V |
probably benign |
Het |
| Gm7251 |
T |
A |
13: 49,958,676 (GRCm39) |
|
noncoding transcript |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,927,453 (GRCm39) |
Y981C |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,493,202 (GRCm39) |
C107Y |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,379,082 (GRCm39) |
V138M |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,903,253 (GRCm39) |
E263G |
possibly damaging |
Het |
| Mark2 |
T |
C |
19: 7,268,054 (GRCm39) |
I50V |
possibly damaging |
Het |
| Mug2 |
G |
T |
6: 122,047,966 (GRCm39) |
|
probably null |
Het |
| Mvk |
A |
G |
5: 114,591,022 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Napb |
A |
C |
2: 148,574,184 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
T |
G |
2: 165,896,417 (GRCm39) |
L440R |
possibly damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,103 (GRCm39) |
F193L |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,525,191 (GRCm39) |
Y376H |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 137,995,663 (GRCm39) |
M982K |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,357,264 (GRCm39) |
F252I |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,037 (GRCm39) |
V188A |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,570,421 (GRCm39) |
S1300P |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,997,589 (GRCm39) |
H1104Q |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,093,715 (GRCm39) |
T143A |
possibly damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfp583 |
A |
G |
7: 6,320,680 (GRCm39) |
S111P |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
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 |
|
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'- CCTTTGGGCTGAGTGTAAAAG -3'
(R):5'- CTGTTGAAACGCTAACAAAATGCAC -3'
Sequencing Primer
(F):5'- GTAGACCATGCTGGCCTCTAAC -3'
(R):5'- TAACAAAATGCACACATTAGCCTTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation