Incidental Mutation 'R5527:Naa15'
ID |
431906 |
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 |
043085-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R5527 (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 C
at 51349368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 46
(Y46H)
|
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: Y96H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: Y96H
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: Y14H
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192419
AA Change: Y46H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141965 Gene: ENSMUSG00000063273 AA Change: Y46H
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: Y46H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: Y46H
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: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.7%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,278,842 (GRCm39) |
Y1051N |
probably benign |
Het |
Bach1 |
T |
C |
16: 87,516,433 (GRCm39) |
S325P |
probably benign |
Het |
Baz2a |
T |
C |
10: 127,960,786 (GRCm39) |
S1529P |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,396,134 (GRCm39) |
L168P |
probably damaging |
Het |
Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
Ccnt2 |
T |
C |
1: 127,730,401 (GRCm39) |
M426T |
probably benign |
Het |
Cdk7 |
C |
T |
13: 100,866,980 (GRCm39) |
V38I |
probably damaging |
Het |
Cenpj |
T |
C |
14: 56,764,440 (GRCm39) |
Y1324C |
probably damaging |
Het |
Cplane2 |
C |
A |
4: 140,947,303 (GRCm39) |
A228D |
probably damaging |
Het |
Ddx47 |
C |
A |
6: 134,988,657 (GRCm39) |
A18E |
probably benign |
Het |
Dnah2 |
G |
A |
11: 69,328,014 (GRCm39) |
Q3370* |
probably null |
Het |
Dnah6 |
C |
T |
6: 73,136,212 (GRCm39) |
V976I |
probably benign |
Het |
Dock7 |
C |
T |
4: 98,842,105 (GRCm39) |
|
probably benign |
Het |
Dpy19l3 |
A |
T |
7: 35,413,555 (GRCm39) |
I362N |
possibly damaging |
Het |
Fam118a |
A |
T |
15: 84,942,999 (GRCm39) |
T343S |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,793,060 (GRCm39) |
D1021E |
probably benign |
Het |
Fkbp1b |
T |
C |
12: 4,883,746 (GRCm39) |
Y83C |
probably damaging |
Het |
Flt4 |
T |
C |
11: 49,525,581 (GRCm39) |
I709T |
probably damaging |
Het |
Gga3 |
G |
T |
11: 115,478,262 (GRCm39) |
A510D |
probably damaging |
Het |
Heatr1 |
T |
C |
13: 12,417,641 (GRCm39) |
I264T |
probably damaging |
Het |
Heatr1 |
T |
C |
13: 12,419,829 (GRCm39) |
I384T |
probably benign |
Het |
Hes2 |
T |
C |
4: 152,244,849 (GRCm39) |
V106A |
probably benign |
Het |
Igf1r |
T |
A |
7: 67,857,569 (GRCm39) |
M1083K |
probably damaging |
Het |
Il7r |
A |
T |
15: 9,513,010 (GRCm39) |
D166E |
probably benign |
Het |
Ipo4 |
G |
A |
14: 55,869,507 (GRCm39) |
|
probably null |
Het |
Klk1b26 |
T |
C |
7: 43,662,187 (GRCm39) |
I15T |
probably benign |
Het |
Krt42 |
T |
C |
11: 100,154,121 (GRCm39) |
|
probably benign |
Het |
Lag3 |
T |
C |
6: 124,885,592 (GRCm39) |
T263A |
probably damaging |
Het |
Lilra6 |
T |
A |
7: 3,917,586 (GRCm39) |
|
probably benign |
Het |
Lrrc31 |
T |
A |
3: 30,745,377 (GRCm39) |
H90L |
probably damaging |
Het |
Lvrn |
G |
A |
18: 47,006,870 (GRCm39) |
D331N |
probably damaging |
Het |
Me2 |
A |
T |
18: 73,924,187 (GRCm39) |
W342R |
probably damaging |
Het |
Mob2 |
A |
G |
7: 141,563,147 (GRCm39) |
F220S |
probably damaging |
Het |
Mroh4 |
A |
G |
15: 74,486,865 (GRCm39) |
I342T |
probably damaging |
Het |
Neb |
A |
G |
2: 52,224,465 (GRCm39) |
V10A |
unknown |
Het |
Nlrc5 |
A |
G |
8: 95,217,044 (GRCm39) |
H1011R |
probably damaging |
Het |
Nr1i3 |
A |
G |
1: 171,041,921 (GRCm39) |
T2A |
possibly damaging |
Het |
Nrros |
T |
C |
16: 31,963,288 (GRCm39) |
N207S |
probably damaging |
Het |
Or52m2 |
A |
T |
7: 102,263,768 (GRCm39) |
S143T |
probably benign |
Het |
Or7c70 |
C |
T |
10: 78,683,609 (GRCm39) |
V47M |
probably benign |
Het |
Pcare |
A |
T |
17: 72,059,635 (GRCm39) |
V14D |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,000,052 (GRCm39) |
T714I |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,416,616 (GRCm39) |
T1499A |
possibly damaging |
Het |
Rubcn |
T |
C |
16: 32,647,081 (GRCm39) |
K771E |
probably damaging |
Het |
Sbds |
T |
C |
5: 130,275,247 (GRCm39) |
E227G |
possibly damaging |
Het |
Setd1a |
C |
T |
7: 127,384,801 (GRCm39) |
P8S |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,144,932 (GRCm39) |
I1129V |
probably benign |
Het |
Spef1 |
T |
A |
2: 131,014,661 (GRCm39) |
D87V |
probably damaging |
Het |
Supv3l1 |
C |
T |
10: 62,265,608 (GRCm39) |
R644Q |
probably damaging |
Het |
Thoc6 |
A |
G |
17: 23,889,769 (GRCm39) |
F51S |
probably damaging |
Het |
Tm4sf19 |
T |
C |
16: 32,226,739 (GRCm39) |
L176P |
probably damaging |
Het |
Tma16 |
A |
G |
8: 66,936,776 (GRCm39) |
I17T |
possibly damaging |
Het |
Tpd52l2 |
G |
A |
2: 181,143,847 (GRCm39) |
|
probably null |
Het |
Ube2j1 |
C |
T |
4: 33,045,164 (GRCm39) |
P146S |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,208,099 (GRCm39) |
I4960N |
possibly damaging |
Het |
Usp13 |
A |
G |
3: 32,919,987 (GRCm39) |
D224G |
probably damaging |
Het |
Uxs1 |
T |
C |
1: 43,819,240 (GRCm39) |
T188A |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,234,483 (GRCm39) |
Y576* |
probably null |
Het |
Vmn2r73 |
T |
C |
7: 85,507,575 (GRCm39) |
D579G |
possibly damaging |
Het |
Xpr1 |
T |
C |
1: 155,165,981 (GRCm39) |
N524D |
probably benign |
Het |
Xrn2 |
A |
T |
2: 146,871,675 (GRCm39) |
I366L |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,676,159 (GRCm39) |
V386E |
possibly damaging |
Het |
Zfp292 |
A |
T |
4: 34,806,261 (GRCm39) |
L2261Q |
probably damaging |
Het |
Zpld1 |
C |
G |
16: 55,046,725 (GRCm39) |
E415Q |
probably benign |
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 |
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'- TGACCTAAGGCTATCTGTCTCTG -3'
(R):5'- GATGTAATCACTAAGGGGCAGTC -3'
Sequencing Primer
(F):5'- AAGGCTATCTGTCTCTGCTTTCTAAG -3'
(R):5'- CCCTCAAGATCTCGCATT -3'
|
Posted On |
2016-10-05 |