Incidental Mutation 'R0536:Naa30'
ID |
49468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naa30
|
Ensembl Gene |
ENSMUSG00000036282 |
Gene Name |
N(alpha)-acetyltransferase 30, NatC catalytic subunit |
Synonyms |
5730533P17Rik, 4930487N19Rik, Nat12 |
MMRRC Submission |
038728-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R0536 (G1)
|
Quality Score |
146 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
49409703-49428346 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 49410534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 154
(A154V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037362]
[ENSMUST00000153488]
|
AlphaFold |
Q8CES0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037362
AA Change: A154V
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000041450 Gene: ENSMUSG00000036282 AA Change: A154V
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
low complexity region
|
37 |
54 |
N/A |
INTRINSIC |
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
low complexity region
|
108 |
113 |
N/A |
INTRINSIC |
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
Pfam:Acetyltransf_8
|
225 |
351 |
2.6e-8 |
PFAM |
Pfam:Acetyltransf_10
|
246 |
342 |
5.1e-8 |
PFAM |
Pfam:Acetyltransf_7
|
257 |
344 |
5e-11 |
PFAM |
Pfam:Acetyltransf_1
|
262 |
343 |
3.1e-17 |
PFAM |
Pfam:FR47
|
276 |
351 |
4.8e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136995
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138478
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153488
AA Change: A154V
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000121679 Gene: ENSMUSG00000036282 AA Change: A154V
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
low complexity region
|
37 |
54 |
N/A |
INTRINSIC |
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
low complexity region
|
108 |
113 |
N/A |
INTRINSIC |
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
Pfam:Acetyltransf_10
|
227 |
340 |
1.6e-10 |
PFAM |
Pfam:Acetyltransf_7
|
254 |
342 |
1.6e-11 |
PFAM |
Pfam:Acetyltransf_1
|
260 |
341 |
1.3e-18 |
PFAM |
Pfam:FR47
|
274 |
349 |
2.7e-10 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
100% (29/29) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,171,342 (GRCm39) |
|
probably benign |
Het |
Agrn |
A |
T |
4: 156,264,010 (GRCm39) |
D84E |
probably benign |
Het |
Akap11 |
A |
G |
14: 78,751,464 (GRCm39) |
S308P |
probably damaging |
Het |
Atp6v1c2 |
A |
T |
12: 17,357,509 (GRCm39) |
|
probably null |
Het |
AW209491 |
A |
G |
13: 14,811,558 (GRCm39) |
Y137C |
probably damaging |
Het |
Chst9 |
G |
A |
18: 15,628,387 (GRCm39) |
|
probably benign |
Het |
Dok7 |
A |
G |
5: 35,223,826 (GRCm39) |
T122A |
probably damaging |
Het |
Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
Ikzf4 |
T |
A |
10: 128,477,118 (GRCm39) |
E64D |
probably benign |
Het |
Kif21a |
C |
A |
15: 90,843,886 (GRCm39) |
|
probably benign |
Het |
Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,658,951 (GRCm39) |
R2036C |
probably damaging |
Het |
Lrba |
T |
A |
3: 86,622,839 (GRCm39) |
V311D |
probably damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Mylk |
T |
C |
16: 34,820,757 (GRCm39) |
V1903A |
possibly damaging |
Het |
Or2ag1 |
T |
A |
7: 106,313,528 (GRCm39) |
Y120F |
probably damaging |
Het |
Or52z12 |
T |
C |
7: 103,233,468 (GRCm39) |
S80P |
probably damaging |
Het |
Or8g24 |
G |
T |
9: 38,989,625 (GRCm39) |
Q139K |
probably benign |
Het |
Pgm3 |
C |
T |
9: 86,449,589 (GRCm39) |
V144M |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,701,927 (GRCm39) |
S211C |
probably damaging |
Het |
Setx |
T |
C |
2: 29,048,260 (GRCm39) |
Y1954H |
possibly damaging |
Het |
Sorcs3 |
C |
T |
19: 48,791,137 (GRCm39) |
Q1162* |
probably null |
Het |
Sptbn2 |
T |
A |
19: 4,776,718 (GRCm39) |
D255E |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,145,435 (GRCm39) |
E597G |
probably damaging |
Het |
Vldlr |
G |
A |
19: 27,217,364 (GRCm39) |
A436T |
probably damaging |
Het |
Wdr72 |
G |
A |
9: 74,064,690 (GRCm39) |
G574D |
probably damaging |
Het |
Zzz3 |
T |
G |
3: 152,154,465 (GRCm39) |
I572S |
probably damaging |
Het |
|
Other mutations in Naa30 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01300:Naa30
|
APN |
14 |
49,410,714 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03018:Naa30
|
APN |
14 |
49,410,697 (GRCm39) |
missense |
probably benign |
0.05 |
R1989:Naa30
|
UTSW |
14 |
49,415,597 (GRCm39) |
nonsense |
probably null |
|
R2060:Naa30
|
UTSW |
14 |
49,410,556 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3703:Naa30
|
UTSW |
14 |
49,425,059 (GRCm39) |
missense |
probably benign |
0.05 |
R5411:Naa30
|
UTSW |
14 |
49,425,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R7453:Naa30
|
UTSW |
14 |
49,425,144 (GRCm39) |
makesense |
probably null |
|
R8157:Naa30
|
UTSW |
14 |
49,410,865 (GRCm39) |
missense |
probably benign |
|
R8501:Naa30
|
UTSW |
14 |
49,410,353 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8790:Naa30
|
UTSW |
14 |
49,418,208 (GRCm39) |
missense |
probably benign |
0.02 |
R8926:Naa30
|
UTSW |
14 |
49,425,059 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGACCCTCAAGAGTAAGGTTCTG -3'
(R):5'- GGATTGCTGCTGTTCCAAAAGTCAC -3'
Sequencing Primer
(F):5'- CCTCAAGAGTAAGGTTCTGAGTGC -3'
(R):5'- AGCTCAGATTCATATCGGACG -3'
|
Posted On |
2013-06-12 |