Incidental Mutation 'R5909:Naa15'
ID |
460829 |
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 |
044106-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R5909 (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 51367485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 503
(F503L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141433
(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: F553L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: F553L
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 damaging
Transcript: ENSMUST00000193266
AA Change: F503L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: F503L
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
T |
C |
9: 30,873,224 (GRCm39) |
S810P |
probably benign |
Het |
Adcy7 |
A |
T |
8: 89,052,124 (GRCm39) |
I931F |
probably damaging |
Het |
Alcam |
G |
T |
16: 52,111,356 (GRCm39) |
Q248K |
probably benign |
Het |
Astn1 |
A |
C |
1: 158,429,507 (GRCm39) |
R750S |
probably damaging |
Het |
Atp1a2 |
A |
T |
1: 172,114,797 (GRCm39) |
N329K |
probably damaging |
Het |
Bcl6 |
A |
G |
16: 23,791,556 (GRCm39) |
V266A |
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,228,794 (GRCm39) |
V278A |
probably benign |
Het |
Ccdc162 |
T |
C |
10: 41,437,111 (GRCm39) |
E493G |
probably damaging |
Het |
Cpvl |
T |
C |
6: 53,909,413 (GRCm39) |
Y241C |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,704,913 (GRCm39) |
M390T |
probably benign |
Het |
Ero1b |
A |
G |
13: 12,594,139 (GRCm39) |
E102G |
probably benign |
Het |
Etnk1 |
A |
G |
6: 143,143,164 (GRCm39) |
D273G |
probably benign |
Het |
Exoc3 |
A |
G |
13: 74,347,643 (GRCm39) |
V109A |
probably damaging |
Het |
F830016B08Rik |
T |
A |
18: 60,433,091 (GRCm39) |
I58N |
probably damaging |
Het |
Fancd2 |
T |
A |
6: 113,538,672 (GRCm39) |
V589E |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,689,159 (GRCm39) |
R35C |
unknown |
Het |
Fnbp1 |
A |
G |
2: 30,938,211 (GRCm39) |
|
probably null |
Het |
Glce |
G |
T |
9: 61,967,426 (GRCm39) |
A575D |
probably damaging |
Het |
Ift20 |
T |
A |
11: 78,430,867 (GRCm39) |
M70K |
possibly damaging |
Het |
Impg2 |
T |
C |
16: 56,078,499 (GRCm39) |
V487A |
probably damaging |
Het |
Isx |
A |
G |
8: 75,619,426 (GRCm39) |
D206G |
probably benign |
Het |
Jak3 |
A |
G |
8: 72,136,875 (GRCm39) |
I684V |
possibly damaging |
Het |
Kdm5d |
G |
A |
Y: 941,306 (GRCm39) |
S1169N |
probably benign |
Het |
Krt35 |
A |
T |
11: 99,986,639 (GRCm39) |
L125Q |
probably damaging |
Het |
Lama4 |
G |
A |
10: 38,948,855 (GRCm39) |
A873T |
probably benign |
Het |
Lrch4 |
T |
C |
5: 137,632,127 (GRCm39) |
S74P |
possibly damaging |
Het |
Maneal |
A |
T |
4: 124,750,966 (GRCm39) |
Y263* |
probably null |
Het |
Mcat |
C |
T |
15: 83,432,116 (GRCm39) |
A251T |
probably benign |
Het |
Mup3 |
T |
G |
4: 62,004,244 (GRCm39) |
T90P |
probably benign |
Het |
Mybpc2 |
G |
A |
7: 44,156,515 (GRCm39) |
A812V |
probably damaging |
Het |
Nudt8 |
T |
C |
19: 4,050,727 (GRCm39) |
L25S |
possibly damaging |
Het |
Oas1e |
A |
T |
5: 120,926,972 (GRCm39) |
V245D |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,417,054 (GRCm39) |
M109T |
possibly damaging |
Het |
Or4c58 |
A |
G |
2: 89,674,735 (GRCm39) |
V194A |
possibly damaging |
Het |
Or4p18 |
A |
T |
2: 88,232,535 (GRCm39) |
F248I |
probably damaging |
Het |
Phkb |
G |
T |
8: 86,748,076 (GRCm39) |
|
probably null |
Het |
Pidd1 |
A |
C |
7: 141,021,183 (GRCm39) |
L365R |
probably damaging |
Het |
Pira12 |
G |
A |
7: 3,900,621 (GRCm39) |
T43I |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,750,795 (GRCm39) |
R1739C |
probably benign |
Het |
Pkdrej |
A |
T |
15: 85,702,497 (GRCm39) |
D1146E |
possibly damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,390,159 (GRCm39) |
W1425L |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,494,181 (GRCm39) |
L145P |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,945,649 (GRCm39) |
D941E |
probably benign |
Het |
Prdm13 |
G |
T |
4: 21,683,894 (GRCm39) |
Q126K |
unknown |
Het |
Rbm25 |
T |
A |
12: 83,728,362 (GRCm39) |
V837E |
probably damaging |
Het |
Rcc2 |
T |
A |
4: 140,444,379 (GRCm39) |
Y357N |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,919,884 (GRCm39) |
N882K |
probably damaging |
Het |
Sox13 |
A |
G |
1: 133,311,627 (GRCm39) |
I535T |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,040,291 (GRCm39) |
S2408P |
probably benign |
Het |
Stat3 |
G |
A |
11: 100,794,556 (GRCm39) |
T251I |
probably benign |
Het |
Sulf1 |
A |
T |
1: 12,929,039 (GRCm39) |
D102V |
possibly damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tmem145 |
G |
T |
7: 25,007,618 (GRCm39) |
L208F |
possibly damaging |
Het |
Trim17 |
A |
T |
11: 58,859,506 (GRCm39) |
E240V |
probably damaging |
Het |
Trim43b |
A |
T |
9: 88,967,451 (GRCm39) |
I395K |
possibly damaging |
Het |
Trmt61a |
C |
A |
12: 111,647,292 (GRCm39) |
H130N |
probably damaging |
Het |
Unc5b |
A |
C |
10: 60,608,138 (GRCm39) |
L654R |
probably damaging |
Het |
Vmn1r66 |
A |
T |
7: 10,008,269 (GRCm39) |
S255T |
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zbtb10 |
T |
C |
3: 9,345,109 (GRCm39) |
F677S |
probably benign |
Het |
Zfp493 |
T |
A |
13: 67,934,717 (GRCm39) |
C223* |
probably null |
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 |
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'- AAGCAGATATGTTTCAAGGCTTTGC -3'
(R):5'- GCCTTGGCTAACAATCTCCCAC -3'
Sequencing Primer
(F):5'- CCGATGACCAGTTTGACT -3'
(R):5'- CTAAATAAAATCTCTGGGGATTGAGG -3'
|
Posted On |
2017-02-28 |