Incidental Mutation 'R7981:Naa15'
| ID |
651197 |
| 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 |
046022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R7981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51366092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 487
(F487S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000193266]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029303
AA Change: F487S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029303
Gene: ENSMUSG00000063273
AA Change: F487S
| 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 damaging
Transcript: ENSMUST00000193266
AA Change: F437S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141433
Gene: ENSMUSG00000063273
AA Change: F437S
| 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: 99.6%
- 20x: 98.8%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,360 (GRCm39) |
F278I |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,980,739 (GRCm39) |
T100A |
probably benign |
Het |
| Adam34l |
A |
G |
8: 44,078,850 (GRCm39) |
F458S |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,094,588 (GRCm39) |
T740A |
unknown |
Het |
| Aldh1a2 |
A |
T |
9: 71,171,102 (GRCm39) |
I197F |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,424,114 (GRCm39) |
T1009A |
probably benign |
Het |
| Antxrl |
T |
C |
14: 33,787,838 (GRCm39) |
V287A |
probably damaging |
Het |
| Baiap2l1 |
G |
A |
5: 144,294,700 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,938,562 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,407,551 (GRCm39) |
K1109M |
probably damaging |
Het |
| Ccdc28a |
A |
G |
10: 18,094,127 (GRCm39) |
L164P |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,489,797 (GRCm39) |
V469M |
probably damaging |
Het |
| Col16a1 |
T |
G |
4: 129,980,347 (GRCm39) |
|
probably null |
Het |
| Coq9 |
A |
G |
8: 95,569,285 (GRCm39) |
H39R |
probably benign |
Het |
| Crh |
T |
A |
3: 19,748,216 (GRCm39) |
E142V |
probably benign |
Het |
| Depdc1a |
A |
G |
3: 159,226,488 (GRCm39) |
N265S |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,208,213 (GRCm39) |
T998A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,052,929 (GRCm39) |
|
probably null |
Het |
| Gcc1 |
G |
A |
6: 28,419,140 (GRCm39) |
L398F |
probably benign |
Het |
| Gde1 |
T |
C |
7: 118,288,264 (GRCm39) |
T320A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,036,231 (GRCm39) |
D704G |
probably damaging |
Het |
| Gfi1 |
G |
A |
5: 107,873,543 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
| Krtap6-2 |
T |
C |
16: 89,216,562 (GRCm39) |
Y135C |
unknown |
Het |
| Lpcat2 |
T |
C |
8: 93,582,182 (GRCm39) |
S34P |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,274 (GRCm39) |
D301G |
possibly damaging |
Het |
| Mbl2 |
C |
A |
19: 30,216,737 (GRCm39) |
T183K |
probably damaging |
Het |
| Mri1 |
A |
C |
8: 84,983,792 (GRCm39) |
V33G |
possibly damaging |
Het |
| Mrps7 |
T |
C |
11: 115,497,687 (GRCm39) |
M184T |
possibly damaging |
Het |
| Mug1 |
A |
T |
6: 121,858,723 (GRCm39) |
Y1147F |
probably damaging |
Het |
| N4bp2 |
C |
T |
5: 65,969,485 (GRCm39) |
H1416Y |
probably benign |
Het |
| Nin |
C |
T |
12: 70,089,591 (GRCm39) |
V1275I |
|
Het |
| Or4c116 |
A |
G |
2: 88,942,400 (GRCm39) |
F152S |
probably damaging |
Het |
| Or55b3 |
A |
T |
7: 102,127,036 (GRCm39) |
Y14N |
probably damaging |
Het |
| Pik3c2b |
A |
T |
1: 133,003,547 (GRCm39) |
|
probably null |
Het |
| Pkn1 |
G |
T |
8: 84,407,637 (GRCm39) |
N463K |
probably damaging |
Het |
| Pramel24 |
T |
G |
4: 143,453,452 (GRCm39) |
F187V |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,216,963 (GRCm39) |
S816N |
probably damaging |
Het |
| Rassf4 |
G |
T |
6: 116,617,218 (GRCm39) |
D262E |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,311,384 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
G |
6: 48,445,428 (GRCm39) |
T2290A |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,129,186 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,179,248 (GRCm39) |
K4409E |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,168,373 (GRCm39) |
V305A |
possibly damaging |
Het |
| Tmco4 |
T |
G |
4: 138,785,772 (GRCm39) |
L614R |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,070,592 (GRCm39) |
N245K |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,542,138 (GRCm39) |
V366A |
probably benign |
Het |
| Vmn1r123 |
T |
C |
7: 20,896,914 (GRCm39) |
S269P |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,887 (GRCm39) |
S494T |
probably benign |
Het |
| Zbtb26 |
T |
A |
2: 37,326,887 (GRCm39) |
I50L |
possibly 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 |
|
|
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'- TGCCACCCATTTATTATAGGCC -3'
(R):5'- TATGTATTAGGAATGAGCAGCAGC -3'
Sequencing Primer
(F):5'- ACCCATTTATTATAGGCCTTTTGTG -3'
(R):5'- TATTAGGAATGAGCAGCAGCAATTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation