Incidental Mutation 'R7040:Naa15'
ID |
546983 |
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 |
045013-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R7040 (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 A
at 51380205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 811
(L811Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141433
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000193266]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029303
AA Change: L861Q
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: L861Q
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 |
possibly damaging
Transcript: ENSMUST00000193266
AA Change: L811Q
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: L811Q
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
G |
7: 127,835,897 (GRCm39) |
L232P |
possibly damaging |
Het |
Acaa1a |
T |
C |
9: 119,178,104 (GRCm39) |
V312A |
probably damaging |
Het |
Bmp2 |
A |
G |
2: 133,403,604 (GRCm39) |
D385G |
probably damaging |
Het |
C1qtnf9 |
T |
C |
14: 61,017,241 (GRCm39) |
V257A |
probably damaging |
Het |
Cd3d |
G |
A |
9: 44,896,991 (GRCm39) |
V122I |
probably damaging |
Het |
Cdc37 |
T |
C |
9: 21,053,519 (GRCm39) |
E199G |
probably damaging |
Het |
Crb2 |
T |
A |
2: 37,677,696 (GRCm39) |
D326E |
probably benign |
Het |
Cyp2c29 |
A |
C |
19: 39,318,781 (GRCm39) |
K420N |
possibly damaging |
Het |
Cyp2g1 |
A |
C |
7: 26,520,184 (GRCm39) |
D472A |
probably damaging |
Het |
Dab2 |
A |
C |
15: 6,451,732 (GRCm39) |
H116P |
probably damaging |
Het |
Dnah7b |
G |
C |
1: 46,275,969 (GRCm39) |
E2619Q |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,584,909 (GRCm39) |
M208L |
probably benign |
Het |
Eif4enif1 |
T |
G |
11: 3,184,040 (GRCm39) |
V521G |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fpr-rs6 |
A |
G |
17: 20,403,196 (GRCm39) |
M55T |
probably damaging |
Het |
Grhpr |
A |
G |
4: 44,985,362 (GRCm39) |
S101G |
probably damaging |
Het |
Kif15 |
T |
A |
9: 122,840,679 (GRCm39) |
D33E |
possibly damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Lama4 |
A |
G |
10: 38,936,158 (GRCm39) |
Q611R |
possibly damaging |
Het |
Lrrc47 |
T |
A |
4: 154,104,909 (GRCm39) |
*123R |
probably null |
Het |
Map4k3 |
A |
C |
17: 80,988,344 (GRCm39) |
V36G |
probably damaging |
Het |
Mme |
T |
A |
3: 63,276,344 (GRCm39) |
I707N |
probably damaging |
Het |
Muc2 |
A |
G |
7: 141,305,194 (GRCm39) |
E166G |
unknown |
Het |
Mucl1 |
T |
A |
15: 103,783,844 (GRCm39) |
T108S |
possibly damaging |
Het |
Myo1h |
A |
T |
5: 114,497,805 (GRCm39) |
D53V |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,525,267 (GRCm39) |
T1487A |
probably benign |
Het |
Nme8 |
A |
T |
13: 19,878,498 (GRCm39) |
L87H |
probably damaging |
Het |
Nr2e1 |
A |
G |
10: 42,444,374 (GRCm39) |
V245A |
probably damaging |
Het |
Nt5c2 |
A |
T |
19: 46,881,974 (GRCm39) |
F291Y |
possibly damaging |
Het |
Ooep |
T |
C |
9: 78,285,683 (GRCm39) |
N43S |
possibly damaging |
Het |
Or10ak13 |
T |
C |
4: 118,639,183 (GRCm39) |
M200V |
probably benign |
Het |
Or4e1 |
T |
C |
14: 52,700,932 (GRCm39) |
D178G |
possibly damaging |
Het |
Or52i2 |
A |
T |
7: 102,319,937 (GRCm39) |
Q270L |
probably benign |
Het |
Or52n2c |
A |
T |
7: 104,574,717 (GRCm39) |
C85S |
probably benign |
Het |
Ovch2 |
A |
T |
7: 107,395,772 (GRCm39) |
I82N |
probably damaging |
Het |
Palb2 |
A |
T |
7: 121,713,622 (GRCm39) |
M524K |
possibly damaging |
Het |
Patj |
T |
C |
4: 98,329,317 (GRCm39) |
S524P |
probably benign |
Het |
Patl1 |
T |
A |
19: 11,907,318 (GRCm39) |
Y401N |
possibly damaging |
Het |
Pcdhb20 |
A |
T |
18: 37,637,770 (GRCm39) |
T99S |
probably benign |
Het |
Plcb4 |
G |
A |
2: 135,774,182 (GRCm39) |
A155T |
probably benign |
Het |
Rpap3 |
A |
G |
15: 97,576,993 (GRCm39) |
V585A |
possibly damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spen |
T |
A |
4: 141,221,693 (GRCm39) |
T302S |
unknown |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Ube2o |
T |
C |
11: 116,432,686 (GRCm39) |
E760G |
probably benign |
Het |
Uimc1 |
T |
A |
13: 55,223,267 (GRCm39) |
|
probably null |
Het |
Usp16 |
C |
T |
16: 87,277,817 (GRCm39) |
A689V |
probably damaging |
Het |
Vmn2r60 |
G |
A |
7: 41,791,666 (GRCm39) |
A530T |
probably benign |
Het |
Vps8 |
T |
A |
16: 21,393,772 (GRCm39) |
M1185K |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,149,645 (GRCm39) |
S136P |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,967,529 (GRCm39) |
N175S |
probably benign |
Het |
Zfp160 |
A |
T |
17: 21,246,794 (GRCm39) |
H448L |
probably damaging |
Het |
Zfp90 |
T |
A |
8: 107,151,641 (GRCm39) |
C451* |
probably null |
Het |
Zfp945 |
A |
G |
17: 23,071,264 (GRCm39) |
C212R |
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 |
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'- CCTTGTGTTGTGACATGAGCC -3'
(R):5'- TCTGCCACACACCTGCTATG -3'
Sequencing Primer
(F):5'- GACATGAGCCTTTCTGTTCTTTAGAC -3'
(R):5'- TTAAACCCCTCAATTTTAGCAGC -3'
|
Posted On |
2019-05-13 |