Incidental Mutation 'IGL02418:Naa16'
ID |
292522 |
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 # |
IGL02418
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
79571947-79628228 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 79620806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 57
(R57L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022597]
[ENSMUST00000163486]
[ENSMUST00000169500]
|
AlphaFold |
Q9DBB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022597
AA Change: R91L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022597 Gene: ENSMUSG00000022020 AA Change: R91L
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 |
probably damaging
Transcript: ENSMUST00000163486
AA Change: R57L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131268 Gene: ENSMUSG00000022020 AA Change: R57L
Domain | Start | End | E-Value | Type |
TPR
|
12 |
45 |
2.99e1 |
SMART |
TPR
|
46 |
79 |
2.98e-3 |
SMART |
Blast:TPR
|
190 |
223 |
3e-10 |
BLAST |
TPR
|
340 |
373 |
9.96e0 |
SMART |
TPR
|
374 |
407 |
7.47e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165337
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169500
|
SMART Domains |
Protein: ENSMUSP00000127298 Gene: ENSMUSG00000022020
Domain | Start | End | E-Value | Type |
PDB:4KVO|D
|
1 |
46 |
1e-6 |
PDB |
|
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 |
Abi3bp |
T |
A |
16: 56,424,479 (GRCm39) |
|
probably benign |
Het |
Acsbg2 |
A |
G |
17: 57,156,730 (GRCm39) |
V436A |
probably benign |
Het |
Afap1l1 |
T |
C |
18: 61,885,648 (GRCm39) |
D156G |
probably damaging |
Het |
Arhgap21 |
G |
A |
2: 20,885,711 (GRCm39) |
R489C |
probably damaging |
Het |
Arhgap26 |
G |
A |
18: 39,490,620 (GRCm39) |
|
probably benign |
Het |
Bbs5 |
T |
G |
2: 69,485,849 (GRCm39) |
*89G |
probably null |
Het |
Ceacam5 |
A |
T |
7: 17,493,359 (GRCm39) |
Y794F |
possibly damaging |
Het |
Ces3b |
T |
C |
8: 105,812,279 (GRCm39) |
V176A |
probably damaging |
Het |
Cfi |
A |
G |
3: 129,642,461 (GRCm39) |
H105R |
probably benign |
Het |
Chat |
C |
T |
14: 32,168,906 (GRCm39) |
V210I |
possibly damaging |
Het |
Chd1l |
A |
G |
3: 97,488,415 (GRCm39) |
S534P |
probably benign |
Het |
Cyb5rl |
T |
C |
4: 106,928,182 (GRCm39) |
L106P |
probably damaging |
Het |
Cyp21a1 |
A |
G |
17: 35,023,162 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,495,679 (GRCm39) |
C1436R |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,108,361 (GRCm39) |
F130I |
probably benign |
Het |
Fryl |
T |
A |
5: 73,267,519 (GRCm39) |
|
probably benign |
Het |
Galnt10 |
T |
C |
11: 57,671,994 (GRCm39) |
V428A |
probably benign |
Het |
Ganab |
A |
G |
19: 8,888,433 (GRCm39) |
D496G |
probably null |
Het |
Gapvd1 |
T |
C |
2: 34,620,530 (GRCm39) |
T44A |
probably benign |
Het |
Gm17093 |
T |
A |
14: 44,758,185 (GRCm39) |
M122K |
unknown |
Het |
Gm5356 |
A |
T |
8: 89,914,064 (GRCm39) |
|
noncoding transcript |
Het |
Gmppa |
G |
T |
1: 75,415,664 (GRCm39) |
G126C |
probably damaging |
Het |
Il23r |
T |
C |
6: 67,467,656 (GRCm39) |
H37R |
possibly damaging |
Het |
Itga11 |
A |
G |
9: 62,651,914 (GRCm39) |
I349V |
probably benign |
Het |
Lrrc42 |
A |
T |
4: 107,100,533 (GRCm39) |
Y159* |
probably null |
Het |
Ntmt2 |
A |
T |
1: 163,530,725 (GRCm39) |
V238E |
probably damaging |
Het |
Or8g4 |
A |
G |
9: 39,661,787 (GRCm39) |
Y35C |
probably damaging |
Het |
Oxtr |
A |
T |
6: 112,454,200 (GRCm39) |
H21Q |
probably damaging |
Het |
Paqr7 |
A |
G |
4: 134,234,284 (GRCm39) |
Y47C |
probably damaging |
Het |
Paxbp1 |
A |
C |
16: 90,831,000 (GRCm39) |
C459G |
probably damaging |
Het |
Pnp2 |
C |
T |
14: 51,201,293 (GRCm39) |
R222C |
possibly damaging |
Het |
Rtl1 |
T |
C |
12: 109,556,883 (GRCm39) |
D1652G |
probably damaging |
Het |
Saxo5 |
T |
A |
8: 3,526,080 (GRCm39) |
F78I |
probably damaging |
Het |
Shoc1 |
A |
T |
4: 59,049,075 (GRCm39) |
|
probably benign |
Het |
Spata4 |
C |
A |
8: 55,062,978 (GRCm39) |
N294K |
probably benign |
Het |
Tcp11l2 |
T |
A |
10: 84,449,470 (GRCm39) |
Y478* |
probably null |
Het |
Tcte1 |
T |
A |
17: 45,852,128 (GRCm39) |
S454T |
probably benign |
Het |
Thsd4 |
C |
T |
9: 60,335,598 (GRCm39) |
V105I |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,829,765 (GRCm39) |
I200N |
probably benign |
Het |
Tpgs1 |
G |
A |
10: 79,505,289 (GRCm39) |
V16M |
probably benign |
Het |
Ttn |
G |
T |
2: 76,797,447 (GRCm39) |
T539K |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,293,557 (GRCm39) |
S2542G |
probably benign |
Het |
Vmn2r44 |
A |
T |
7: 8,380,864 (GRCm39) |
L343H |
probably damaging |
Het |
Zmat2 |
T |
A |
18: 36,927,392 (GRCm39) |
Y21N |
probably damaging |
Het |
Zyx |
C |
T |
6: 42,334,327 (GRCm39) |
A517V |
probably damaging |
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 |
IGL02544:Naa16
|
APN |
14 |
79,573,260 (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 |