Incidental Mutation 'R2848:Naa16'
ID |
251873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naa16
|
Ensembl Gene |
ENSMUSG00000022020 |
Gene Name |
N(alpha)-acetyltransferase 16, NatA auxiliary subunit |
Synonyms |
1300019C06Rik, Narg1l |
MMRRC Submission |
040441-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R2848 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
79571947-79628228 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79573323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 816
(C816R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022597
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022597]
|
AlphaFold |
Q9DBB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022597
AA Change: C816R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022597 Gene: ENSMUSG00000022020 AA Change: C816R
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
A |
T |
7: 126,429,894 (GRCm39) |
F101Y |
possibly damaging |
Het |
Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
Adamts14 |
T |
A |
10: 61,054,214 (GRCm39) |
Q606L |
probably damaging |
Het |
Adgrf5 |
C |
A |
17: 43,733,531 (GRCm39) |
N118K |
possibly damaging |
Het |
Baz2b |
A |
T |
2: 59,755,010 (GRCm39) |
Y1073N |
possibly damaging |
Het |
Celf2 |
T |
C |
2: 6,608,936 (GRCm39) |
R282G |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,183,387 (GRCm39) |
D31V |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,328,342 (GRCm39) |
L81P |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,487,051 (GRCm39) |
L209Q |
probably damaging |
Het |
Crocc |
G |
A |
4: 140,746,067 (GRCm39) |
A1684V |
probably damaging |
Het |
Cyp4f37 |
T |
A |
17: 32,848,099 (GRCm39) |
C206S |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,567,161 (GRCm39) |
V2355A |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,106,314 (GRCm39) |
K1756E |
probably benign |
Het |
Fis1 |
T |
C |
5: 136,991,971 (GRCm39) |
I55T |
possibly damaging |
Het |
Gm2381 |
G |
A |
7: 42,469,831 (GRCm39) |
P98S |
probably damaging |
Het |
Gpr37 |
C |
T |
6: 25,666,945 (GRCm39) |
|
probably benign |
Het |
Grin2a |
A |
G |
16: 9,579,829 (GRCm39) |
F145L |
possibly damaging |
Het |
Htr4 |
T |
C |
18: 62,561,197 (GRCm39) |
S153P |
probably damaging |
Het |
Igkv9-120 |
T |
A |
6: 68,027,128 (GRCm39) |
|
probably benign |
Het |
Il12rb1 |
G |
A |
8: 71,268,446 (GRCm39) |
W396* |
probably null |
Het |
Itga8 |
A |
T |
2: 12,165,215 (GRCm39) |
V798D |
probably damaging |
Het |
Lfng |
T |
A |
5: 140,597,622 (GRCm39) |
D149E |
probably damaging |
Het |
Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
Mgam |
C |
A |
6: 40,629,649 (GRCm39) |
A86E |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,139,459 (GRCm39) |
N592S |
probably benign |
Het |
Nek8 |
A |
G |
11: 78,058,967 (GRCm39) |
S513P |
probably damaging |
Het |
Ociad1 |
A |
G |
5: 73,451,694 (GRCm39) |
|
probably null |
Het |
Or1j4 |
A |
G |
2: 36,740,811 (GRCm39) |
Y251C |
probably damaging |
Het |
Or2t35 |
C |
T |
14: 14,407,398 (GRCm38) |
P57S |
probably damaging |
Het |
Or4g7 |
T |
C |
2: 111,309,699 (GRCm39) |
M190T |
probably benign |
Het |
Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
Pcdh7 |
G |
A |
5: 57,877,618 (GRCm39) |
G391E |
probably damaging |
Het |
Pcdhga10 |
T |
A |
18: 37,881,253 (GRCm39) |
V338E |
possibly damaging |
Het |
Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
Peg10 |
C |
T |
6: 4,756,912 (GRCm39) |
|
probably benign |
Het |
Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
Ppargc1a |
A |
G |
5: 51,631,151 (GRCm39) |
F493L |
probably benign |
Het |
Ptpra |
C |
A |
2: 130,386,919 (GRCm39) |
H603Q |
probably benign |
Het |
Rnf10 |
T |
C |
5: 115,387,171 (GRCm39) |
D439G |
probably benign |
Het |
Shfl |
A |
T |
9: 20,784,868 (GRCm39) |
H225L |
probably damaging |
Het |
Syt3 |
G |
A |
7: 44,042,866 (GRCm39) |
V383I |
probably benign |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Try5 |
C |
T |
6: 41,290,410 (GRCm39) |
V25I |
probably benign |
Het |
Ttn |
G |
T |
2: 76,749,551 (GRCm39) |
Q3833K |
probably benign |
Het |
Usp53 |
G |
A |
3: 122,728,140 (GRCm39) |
P814L |
probably benign |
Het |
Utp25 |
A |
T |
1: 192,810,759 (GRCm39) |
N81K |
probably benign |
Het |
Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
Vmn2r114 |
A |
T |
17: 23,509,948 (GRCm39) |
M844K |
probably benign |
Het |
Vwa8 |
G |
T |
14: 79,184,582 (GRCm39) |
R360L |
probably benign |
Het |
Xlr4b |
A |
T |
X: 72,258,938 (GRCm39) |
Q25L |
probably null |
Het |
Zfp532 |
T |
A |
18: 65,789,697 (GRCm39) |
H1045Q |
possibly damaging |
Het |
Zfp985 |
G |
A |
4: 147,667,468 (GRCm39) |
W112* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGGAGCAACTTCCCACAAGATTC -3'
(R):5'- ATTGGAATCCTGCGTCACCC -3'
Sequencing Primer
(F):5'- GCAACTTCCCACAAGATTCAAATTTC -3'
(R):5'- TGGGCCTCCATAACCAGCTC -3'
|
Posted On |
2014-12-04 |