Incidental Mutation 'IGL02544:Naa16'
ID |
297750 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Naa16
|
Ensembl Gene |
ENSMUSG00000022020 |
Gene Name |
N(alpha)-acetyltransferase 16, NatA auxiliary subunit |
Synonyms |
1300019C06Rik, Narg1l |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
IGL02544
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
79571947-79628228 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79573260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 837
(F837L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022597
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022597]
|
AlphaFold |
Q9DBB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022597
AA Change: F837L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022597 Gene: ENSMUSG00000022020 AA Change: F837L
Domain | Start | End | E-Value | Type |
TPR
|
46 |
79 |
2.99e1 |
SMART |
TPR
|
80 |
113 |
2.98e-3 |
SMART |
Blast:TPR
|
224 |
257 |
1e-10 |
BLAST |
TPR
|
374 |
407 |
9.96e0 |
SMART |
TPR
|
408 |
441 |
7.47e0 |
SMART |
low complexity region
|
616 |
633 |
N/A |
INTRINSIC |
Blast:TPR
|
672 |
705 |
3e-12 |
BLAST |
low complexity region
|
830 |
841 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227775
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
C |
5: 77,049,961 (GRCm39) |
S12A |
probably benign |
Het |
Abcb5 |
A |
T |
12: 118,870,003 (GRCm39) |
|
probably benign |
Het |
Acap3 |
G |
A |
4: 155,976,867 (GRCm39) |
E6K |
possibly damaging |
Het |
Ano3 |
A |
T |
2: 110,488,594 (GRCm39) |
I946K |
possibly damaging |
Het |
Arid1a |
A |
G |
4: 133,409,059 (GRCm39) |
V1816A |
unknown |
Het |
Cacna1c |
C |
T |
6: 118,728,440 (GRCm39) |
G335R |
probably damaging |
Het |
Ccnh |
C |
A |
13: 85,350,460 (GRCm39) |
Y118* |
probably null |
Het |
Cep76 |
C |
T |
18: 67,768,020 (GRCm39) |
|
probably benign |
Het |
Cyp2c65 |
T |
C |
19: 39,079,082 (GRCm39) |
V387A |
probably damaging |
Het |
Dapk1 |
T |
G |
13: 60,899,031 (GRCm39) |
S834A |
probably benign |
Het |
Ddx39a |
T |
C |
8: 84,449,402 (GRCm39) |
S367P |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,681,091 (GRCm39) |
I474T |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,876,069 (GRCm39) |
R2579H |
probably benign |
Het |
Dnajc16 |
T |
C |
4: 141,491,958 (GRCm39) |
N622D |
probably damaging |
Het |
Eif3c |
G |
T |
7: 126,146,784 (GRCm39) |
S799* |
probably null |
Het |
Fbxo9 |
A |
G |
9: 77,994,541 (GRCm39) |
Y259H |
probably damaging |
Het |
Fpr-rs4 |
A |
T |
17: 18,242,473 (GRCm39) |
H160L |
probably benign |
Het |
Galc |
A |
T |
12: 98,197,701 (GRCm39) |
V336D |
probably benign |
Het |
Matcap1 |
C |
T |
8: 106,010,092 (GRCm39) |
V286M |
probably benign |
Het |
Mfrp |
T |
C |
9: 44,014,091 (GRCm39) |
L153P |
probably damaging |
Het |
Mtx1 |
C |
A |
3: 89,117,703 (GRCm39) |
W30L |
probably damaging |
Het |
Mysm1 |
A |
T |
4: 94,840,543 (GRCm39) |
D624E |
probably damaging |
Het |
Or10ag56 |
C |
T |
2: 87,139,471 (GRCm39) |
R113C |
possibly damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,848 (GRCm39) |
Y278C |
probably damaging |
Het |
Or2ag1 |
T |
C |
7: 106,313,742 (GRCm39) |
I49V |
probably benign |
Het |
Or5h25 |
A |
T |
16: 58,930,507 (GRCm39) |
H155Q |
probably damaging |
Het |
Pde4d |
G |
T |
13: 109,877,057 (GRCm39) |
D137Y |
probably damaging |
Het |
Pik3r1 |
G |
T |
13: 101,823,784 (GRCm39) |
R534S |
probably damaging |
Het |
Pira12 |
T |
A |
7: 3,900,185 (GRCm39) |
Y139F |
probably damaging |
Het |
Plekha5 |
A |
C |
6: 140,535,454 (GRCm39) |
E239A |
possibly damaging |
Het |
Psap |
G |
T |
10: 60,136,405 (GRCm39) |
|
probably benign |
Het |
Rap2b |
T |
C |
3: 61,272,560 (GRCm39) |
F28S |
probably damaging |
Het |
Rfc5 |
A |
T |
5: 117,524,931 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,815,024 (GRCm39) |
D175N |
probably benign |
Het |
Sbno1 |
T |
G |
5: 124,542,046 (GRCm39) |
I370L |
probably damaging |
Het |
Slc17a6 |
T |
A |
7: 51,315,903 (GRCm39) |
C390* |
probably null |
Het |
Srsf7 |
A |
T |
17: 80,511,620 (GRCm39) |
|
probably benign |
Het |
Tbc1d10c |
C |
T |
19: 4,237,959 (GRCm39) |
D272N |
probably benign |
Het |
Tll2 |
A |
G |
19: 41,124,404 (GRCm39) |
F204L |
probably damaging |
Het |
Tmc1 |
T |
A |
19: 20,884,327 (GRCm39) |
T38S |
probably benign |
Het |
Tmem184b |
A |
T |
15: 79,250,007 (GRCm39) |
I256K |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trip11 |
G |
A |
12: 101,859,780 (GRCm39) |
R365W |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,142,429 (GRCm39) |
P1339S |
probably damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,317,293 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Naa16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00551:Naa16
|
APN |
14 |
79,593,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01025:Naa16
|
APN |
14 |
79,622,196 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01155:Naa16
|
APN |
14 |
79,622,155 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01335:Naa16
|
APN |
14 |
79,582,556 (GRCm39) |
splice site |
probably benign |
|
IGL01981:Naa16
|
APN |
14 |
79,618,956 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02230:Naa16
|
APN |
14 |
79,614,801 (GRCm39) |
splice site |
probably benign |
|
IGL02313:Naa16
|
APN |
14 |
79,622,108 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02418:Naa16
|
APN |
14 |
79,620,806 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03051:Naa16
|
APN |
14 |
79,606,522 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03064:Naa16
|
APN |
14 |
79,577,068 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03205:Naa16
|
APN |
14 |
79,593,952 (GRCm39) |
missense |
possibly damaging |
0.89 |
PIT4508001:Naa16
|
UTSW |
14 |
79,606,527 (GRCm39) |
missense |
probably benign |
0.15 |
R0651:Naa16
|
UTSW |
14 |
79,588,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R1429:Naa16
|
UTSW |
14 |
79,596,967 (GRCm39) |
missense |
probably benign |
0.01 |
R1674:Naa16
|
UTSW |
14 |
79,624,497 (GRCm39) |
start codon destroyed |
probably null |
0.65 |
R1693:Naa16
|
UTSW |
14 |
79,588,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R1874:Naa16
|
UTSW |
14 |
79,593,183 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1992:Naa16
|
UTSW |
14 |
79,593,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R2015:Naa16
|
UTSW |
14 |
79,582,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R2391:Naa16
|
UTSW |
14 |
79,607,489 (GRCm39) |
missense |
probably benign |
0.16 |
R2847:Naa16
|
UTSW |
14 |
79,573,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R2848:Naa16
|
UTSW |
14 |
79,573,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R2877:Naa16
|
UTSW |
14 |
79,580,738 (GRCm39) |
missense |
probably benign |
0.00 |
R3884:Naa16
|
UTSW |
14 |
79,580,702 (GRCm39) |
missense |
probably damaging |
0.98 |
R4001:Naa16
|
UTSW |
14 |
79,580,561 (GRCm39) |
splice site |
probably null |
|
R4199:Naa16
|
UTSW |
14 |
79,593,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R4638:Naa16
|
UTSW |
14 |
79,577,473 (GRCm39) |
splice site |
probably null |
|
R4676:Naa16
|
UTSW |
14 |
79,573,788 (GRCm39) |
unclassified |
probably benign |
|
R4690:Naa16
|
UTSW |
14 |
79,582,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R4952:Naa16
|
UTSW |
14 |
79,582,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R5087:Naa16
|
UTSW |
14 |
79,614,855 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5104:Naa16
|
UTSW |
14 |
79,622,140 (GRCm39) |
nonsense |
probably null |
|
R5729:Naa16
|
UTSW |
14 |
79,593,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R6178:Naa16
|
UTSW |
14 |
79,620,780 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6960:Naa16
|
UTSW |
14 |
79,596,911 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7794:Naa16
|
UTSW |
14 |
79,614,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R7936:Naa16
|
UTSW |
14 |
79,578,486 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8356:Naa16
|
UTSW |
14 |
79,596,915 (GRCm39) |
missense |
probably benign |
0.00 |
R8456:Naa16
|
UTSW |
14 |
79,596,915 (GRCm39) |
missense |
probably benign |
0.00 |
R8892:Naa16
|
UTSW |
14 |
79,628,016 (GRCm39) |
missense |
probably benign |
0.32 |
R8931:Naa16
|
UTSW |
14 |
79,582,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R9010:Naa16
|
UTSW |
14 |
79,607,482 (GRCm39) |
missense |
probably benign |
0.01 |
R9068:Naa16
|
UTSW |
14 |
79,612,289 (GRCm39) |
missense |
probably benign |
0.18 |
R9360:Naa16
|
UTSW |
14 |
79,593,943 (GRCm39) |
missense |
probably benign |
0.05 |
R9688:Naa16
|
UTSW |
14 |
79,573,309 (GRCm39) |
nonsense |
probably null |
|
X0064:Naa16
|
UTSW |
14 |
79,588,829 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Naa16
|
UTSW |
14 |
79,582,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |