Incidental Mutation 'R9068:Naa16'
| ID |
689387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naa16
|
| Ensembl Gene |
ENSMUSG00000022020 |
| Gene Name |
N(alpha)-acetyltransferase 16, NatA auxiliary subunit |
| Synonyms |
1300019C06Rik, Narg1l |
| MMRRC Submission |
068892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R9068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
79571947-79628228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79612289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 233
(M233K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022597]
[ENSMUST00000163486]
[ENSMUST00000169500]
|
| AlphaFold |
Q9DBB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022597
AA Change: M233K
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: M233K
| 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 benign
Transcript: ENSMUST00000163486
AA Change: M199K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: M199K
| 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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,075,828 (GRCm39) |
I770V |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,223,762 (GRCm39) |
N190K |
unknown |
Het |
| Actr10 |
T |
C |
12: 70,989,073 (GRCm39) |
L64S |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,177,343 (GRCm39) |
T589A |
probably benign |
Het |
| Akr1b7 |
T |
C |
6: 34,395,977 (GRCm39) |
S160P |
probably damaging |
Het |
| Ankrd52 |
C |
T |
10: 128,217,850 (GRCm39) |
H277Y |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,482,062 (GRCm39) |
L112Q |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,750 (GRCm39) |
|
probably benign |
Het |
| Clec3a |
A |
G |
8: 115,152,375 (GRCm39) |
D127G |
probably damaging |
Het |
| Cnnm3 |
T |
C |
1: 36,551,962 (GRCm39) |
L324P |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,147,469 (GRCm39) |
|
probably null |
Het |
| Cwf19l1 |
C |
T |
19: 44,124,274 (GRCm39) |
|
probably benign |
Het |
| Cyp26b1 |
G |
A |
6: 84,551,379 (GRCm39) |
T470I |
probably damaging |
Het |
| Dedd2 |
A |
G |
7: 24,917,092 (GRCm39) |
V110A |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,975,729 (GRCm39) |
I2866M |
possibly damaging |
Het |
| Dpp10 |
T |
C |
1: 123,360,667 (GRCm39) |
Y286C |
probably damaging |
Het |
| Efna2 |
C |
T |
10: 80,024,524 (GRCm39) |
P177L |
probably damaging |
Het |
| Fbxo46 |
A |
G |
7: 18,869,325 (GRCm39) |
|
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,108,048 (GRCm39) |
T542S |
probably benign |
Het |
| Gm136 |
T |
G |
4: 34,750,928 (GRCm39) |
D115A |
possibly damaging |
Het |
| Gm7356 |
T |
A |
17: 14,221,687 (GRCm39) |
K114I |
possibly damaging |
Het |
| Gpr180 |
G |
T |
14: 118,385,658 (GRCm39) |
E157* |
probably null |
Het |
| Grk4 |
T |
C |
5: 34,905,653 (GRCm39) |
I466T |
|
Het |
| Hic1 |
A |
G |
11: 75,060,332 (GRCm39) |
M5T |
unknown |
Het |
| Hmcn2 |
C |
A |
2: 31,303,685 (GRCm39) |
N3058K |
probably benign |
Het |
| Htr5a |
T |
A |
5: 28,055,799 (GRCm39) |
H263Q |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Map3k8 |
A |
T |
18: 4,340,557 (GRCm39) |
H252Q |
probably benign |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
| Napsa |
A |
T |
7: 44,235,223 (GRCm39) |
D336V |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,285,218 (GRCm39) |
N55I |
possibly damaging |
Het |
| Or10d5 |
A |
T |
9: 39,862,087 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
A |
T |
2: 88,927,369 (GRCm39) |
C301S |
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,703 (GRCm39) |
F258L |
probably damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,963 (GRCm39) |
C178S |
probably damaging |
Het |
| Pcdha8 |
G |
T |
18: 37,127,323 (GRCm39) |
G602C |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigr |
G |
A |
1: 130,774,231 (GRCm39) |
V404M |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,612,036 (GRCm39) |
P803L |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,159,396 (GRCm39) |
F583L |
probably benign |
Het |
| Rit2 |
A |
T |
18: 31,108,468 (GRCm39) |
D172E |
possibly damaging |
Het |
| Skint4 |
C |
T |
4: 112,022,932 (GRCm39) |
P476S |
possibly damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,320,171 (GRCm39) |
V353A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,574,917 (GRCm39) |
D1077G |
probably damaging |
Het |
| Sun2 |
A |
G |
15: 79,612,252 (GRCm39) |
F478L |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,825 (GRCm39) |
C263* |
probably null |
Het |
| Tfpi |
C |
A |
2: 84,273,235 (GRCm39) |
L229F |
unknown |
Het |
| Tmem131l |
A |
T |
3: 83,817,775 (GRCm39) |
C1242S |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,204,219 (GRCm39) |
W280R |
probably damaging |
Het |
| Uncx |
A |
G |
5: 139,532,573 (GRCm39) |
K213E |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,232,875 (GRCm39) |
L887P |
probably benign |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,404 (GRCm39) |
I151F |
probably damaging |
Het |
| Vmn2r50 |
G |
T |
7: 9,772,061 (GRCm39) |
Q547K |
possibly damaging |
Het |
| Vwf |
A |
G |
6: 125,625,792 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,000,451 (GRCm39) |
V2973D |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,358,289 (GRCm39) |
M655V |
probably benign |
Het |
| Zc3h3 |
C |
T |
15: 75,711,499 (GRCm39) |
A321T |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 45,000,040 (GRCm39) |
R65W |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,376 (GRCm39) |
E343G |
probably damaging |
Het |
| Zfp775 |
C |
A |
6: 48,597,151 (GRCm39) |
R342S |
probably damaging |
Het |
| Zwilch |
A |
G |
9: 64,075,942 (GRCm39) |
F27L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTAACTTTCACTATGCTTCAGAAG -3'
(R):5'- TAGCTATCGCCAGGAGGACAG -3'
Sequencing Primer
(F):5'- CTTCAGAAGCTGGCTAAGGAAGTG -3'
(R):5'- AGTGGTTCATTTCTGAAGACAAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation