Incidental Mutation 'R9360:Naa16'
| ID |
708655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naa16
|
| Ensembl Gene |
ENSMUSG00000022020 |
| Gene Name |
N(alpha)-acetyltransferase 16, NatA auxiliary subunit |
| Synonyms |
1300019C06Rik, Narg1l |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R9360 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
79571947-79628228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79593943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 374
(I374N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022597]
[ENSMUST00000163486]
|
| AlphaFold |
Q9DBB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022597
AA Change: I374N
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: I374N
| 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: I340N
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: I340N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
G |
12: 81,468,261 (GRCm39) |
L120P |
probably damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,334 (GRCm39) |
S259P |
probably damaging |
Het |
| Atp6v0a2 |
C |
A |
5: 124,767,259 (GRCm39) |
S7R |
possibly damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,594,336 (GRCm39) |
A2274V |
probably benign |
Het |
| Caml |
A |
C |
13: 55,771,030 (GRCm39) |
N43H |
probably damaging |
Het |
| Ccar2 |
A |
G |
14: 70,379,445 (GRCm39) |
S518P |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,924,349 (GRCm39) |
I546V |
probably null |
Het |
| Chac1 |
C |
T |
2: 119,182,854 (GRCm39) |
T84I |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,644,686 (GRCm39) |
T1201A |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,661,158 (GRCm39) |
T120A |
possibly damaging |
Het |
| Ctsj |
T |
A |
13: 61,151,634 (GRCm39) |
I95F |
probably benign |
Het |
| Cyp4f17 |
C |
T |
17: 32,743,880 (GRCm39) |
R353C |
probably benign |
Het |
| Depdc1a |
A |
G |
3: 159,232,168 (GRCm39) |
M640V |
possibly damaging |
Het |
| Dgkq |
A |
G |
5: 108,798,469 (GRCm39) |
V633A |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,415,189 (GRCm39) |
Y14* |
probably null |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Ftdc1 |
T |
C |
16: 58,434,234 (GRCm39) |
D161G |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,289,752 (GRCm39) |
V179E |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,299 (GRCm39) |
F208L |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,790,037 (GRCm39) |
S4P |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 93,932,672 (GRCm39) |
I717N |
probably damaging |
Het |
| Hormad1 |
G |
A |
3: 95,483,622 (GRCm39) |
A145T |
probably benign |
Het |
| Kcmf1 |
A |
T |
6: 72,838,826 (GRCm39) |
C33* |
probably null |
Het |
| Kif13a |
A |
T |
13: 46,962,472 (GRCm39) |
S561T |
probably benign |
Het |
| Klhl20 |
G |
T |
1: 160,921,269 (GRCm39) |
P571Q |
probably benign |
Het |
| Kpna6 |
A |
T |
4: 129,547,635 (GRCm39) |
M304K |
probably benign |
Het |
| Krt75 |
T |
C |
15: 101,476,729 (GRCm39) |
K387E |
probably damaging |
Het |
| Lum |
A |
T |
10: 97,404,752 (GRCm39) |
K216* |
probably null |
Het |
| Meioc |
A |
G |
11: 102,565,779 (GRCm39) |
N409S |
probably benign |
Het |
| Mrpl20 |
T |
C |
4: 155,888,402 (GRCm39) |
|
probably null |
Het |
| Nbea |
A |
G |
3: 55,943,319 (GRCm39) |
I652T |
possibly damaging |
Het |
| Nhsl1 |
G |
A |
10: 18,194,898 (GRCm39) |
G56R |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,973,650 (GRCm39) |
I1894V |
probably benign |
Het |
| Olig2 |
A |
C |
16: 91,023,774 (GRCm39) |
T163P |
probably damaging |
Het |
| Or13c7c |
A |
G |
4: 43,835,765 (GRCm39) |
S242P |
probably benign |
Het |
| Or4g7 |
T |
C |
2: 111,309,684 (GRCm39) |
I185T |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,266,977 (GRCm39) |
L118Q |
probably damaging |
Het |
| Or7e168 |
T |
A |
9: 19,720,529 (GRCm39) |
V305D |
possibly damaging |
Het |
| Parp4 |
G |
A |
14: 56,878,775 (GRCm39) |
|
probably null |
Het |
| Pcdhb2 |
T |
C |
18: 37,429,551 (GRCm39) |
I508T |
probably damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,859,787 (GRCm39) |
F281S |
probably damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,516 (GRCm39) |
M74K |
possibly damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,381,156 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Rhag |
T |
C |
17: 41,142,548 (GRCm39) |
V251A |
possibly damaging |
Het |
| Rrs1 |
A |
G |
1: 9,616,845 (GRCm39) |
*366W |
probably null |
Het |
| Sgpp2 |
A |
G |
1: 78,367,143 (GRCm39) |
D92G |
probably damaging |
Het |
| Slc44a3 |
C |
A |
3: 121,325,908 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,968,956 (GRCm39) |
M257V |
probably benign |
Het |
| Taar7e |
T |
A |
10: 23,913,949 (GRCm39) |
Y146* |
probably null |
Het |
| Tet2 |
G |
T |
3: 133,192,903 (GRCm39) |
N510K |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,257,550 (GRCm39) |
I836M |
unknown |
Het |
| Thada |
A |
G |
17: 84,499,410 (GRCm39) |
V1929A |
probably benign |
Het |
| Tram1l1 |
A |
T |
3: 124,115,899 (GRCm39) |
D353V |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,094,734 (GRCm39) |
|
probably null |
Het |
| Trim15 |
A |
T |
17: 37,177,942 (GRCm39) |
C18S |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,678,952 (GRCm39) |
I211T |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,783,165 (GRCm39) |
V501A |
probably benign |
Het |
| Zfp563 |
A |
G |
17: 33,324,428 (GRCm39) |
E341G |
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 |
|
R9068:Naa16
|
UTSW |
14 |
79,612,289 (GRCm39) |
missense |
probably benign |
0.18 |
|
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'- ATGACCCAGTTCCTGCTACC -3'
(R):5'- AGTCATACCTCTTCCTGTTGAGAC -3'
Sequencing Primer
(F):5'- TCCAGAGGTCCTGAGTTCAAATC -3'
(R):5'- GTTGAGACTGATCATTTTTGCTAAGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation