Incidental Mutation 'IGL03260:Naa35'
ID |
414789 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Naa35
|
Ensembl Gene |
ENSMUSG00000021555 |
Gene Name |
N(alpha)-acetyltransferase 35, NatC auxiliary subunit |
Synonyms |
Mak10, A330027C19Rik, C030004C14Rik, A330021G12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
IGL03260
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
59733147-59782612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 59775699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 125
(S125A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022038]
[ENSMUST00000165253]
[ENSMUST00000172419]
|
AlphaFold |
Q6PHQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022038
AA Change: S526A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000022038 Gene: ENSMUSG00000021555 AA Change: S526A
Domain | Start | End | E-Value | Type |
Pfam:Mak10
|
45 |
145 |
2.2e-29 |
PFAM |
Pfam:Mak10
|
141 |
194 |
3.7e-10 |
PFAM |
low complexity region
|
561 |
568 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165129
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165253
AA Change: S125A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165841
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171391
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172118
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224194
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172166
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172419
|
SMART Domains |
Protein: ENSMUSP00000126079 Gene: ENSMUSG00000021555
Domain | Start | End | E-Value | Type |
Pfam:Mak10
|
40 |
193 |
1.2e-55 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933406P04Rik |
A |
G |
10: 20,187,071 (GRCm39) |
|
probably benign |
Het |
Abca12 |
A |
G |
1: 71,323,258 (GRCm39) |
L1608P |
probably damaging |
Het |
Akr1b8 |
G |
T |
6: 34,340,394 (GRCm39) |
|
probably benign |
Het |
Appbp2 |
A |
G |
11: 85,107,283 (GRCm39) |
V69A |
probably benign |
Het |
Ces1e |
T |
C |
8: 93,950,545 (GRCm39) |
N79D |
probably benign |
Het |
Cldn34b3 |
A |
G |
X: 75,310,479 (GRCm39) |
T16A |
probably damaging |
Het |
Frmd4b |
A |
T |
6: 97,373,185 (GRCm39) |
F103Y |
probably damaging |
Het |
Ifi47 |
T |
C |
11: 48,986,932 (GRCm39) |
F233S |
probably damaging |
Het |
Igkv8-30 |
A |
T |
6: 70,094,339 (GRCm39) |
M24K |
probably damaging |
Het |
Krt72 |
C |
T |
15: 101,686,708 (GRCm39) |
A413T |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,250 (GRCm39) |
T63A |
probably benign |
Het |
Or6c76 |
T |
C |
10: 129,612,521 (GRCm39) |
V261A |
probably damaging |
Het |
Or6z7 |
A |
T |
7: 6,483,658 (GRCm39) |
C166S |
probably damaging |
Het |
Padi1 |
T |
C |
4: 140,555,505 (GRCm39) |
H240R |
probably benign |
Het |
Ppp1r12a |
A |
G |
10: 108,097,106 (GRCm39) |
T240A |
probably benign |
Het |
Ppp2ca |
A |
G |
11: 52,003,975 (GRCm39) |
N44S |
probably damaging |
Het |
Prg4 |
T |
A |
1: 150,331,378 (GRCm39) |
|
probably benign |
Het |
Rab33a |
A |
G |
X: 47,608,545 (GRCm39) |
E23G |
probably benign |
Het |
Scarb2 |
G |
T |
5: 92,594,296 (GRCm39) |
A422E |
probably damaging |
Het |
Scn4b |
A |
T |
9: 45,058,987 (GRCm39) |
N86I |
probably damaging |
Het |
Serpina1d |
G |
A |
12: 103,730,108 (GRCm39) |
T358I |
probably damaging |
Het |
Slc12a3 |
T |
A |
8: 95,059,870 (GRCm39) |
I172N |
probably damaging |
Het |
Slc18a1 |
T |
C |
8: 69,527,766 (GRCm39) |
E15G |
probably benign |
Het |
Snx7 |
A |
G |
3: 117,575,942 (GRCm39) |
|
probably benign |
Het |
Srpx |
T |
A |
X: 9,921,987 (GRCm39) |
K216* |
probably null |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,838,626 (GRCm39) |
S742P |
probably benign |
Het |
Vmn2r104 |
C |
T |
17: 20,263,083 (GRCm39) |
C126Y |
probably benign |
Het |
Vmn2r63 |
A |
T |
7: 42,578,616 (GRCm39) |
N92K |
probably damaging |
Het |
|
Other mutations in Naa35 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00476:Naa35
|
APN |
13 |
59,777,869 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00743:Naa35
|
APN |
13 |
59,778,485 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01335:Naa35
|
APN |
13 |
59,764,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01385:Naa35
|
APN |
13 |
59,748,880 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01541:Naa35
|
APN |
13 |
59,748,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02129:Naa35
|
APN |
13 |
59,757,339 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02867:Naa35
|
APN |
13 |
59,756,668 (GRCm39) |
intron |
probably benign |
|
IGL02966:Naa35
|
APN |
13 |
59,734,085 (GRCm39) |
missense |
probably benign |
|
R0312:Naa35
|
UTSW |
13 |
59,757,395 (GRCm39) |
missense |
probably benign |
0.01 |
R0557:Naa35
|
UTSW |
13 |
59,775,778 (GRCm39) |
missense |
probably damaging |
0.99 |
R1553:Naa35
|
UTSW |
13 |
59,766,093 (GRCm39) |
critical splice donor site |
probably null |
|
R1611:Naa35
|
UTSW |
13 |
59,776,747 (GRCm39) |
missense |
probably benign |
0.01 |
R1676:Naa35
|
UTSW |
13 |
59,760,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R3709:Naa35
|
UTSW |
13 |
59,765,846 (GRCm39) |
splice site |
probably benign |
|
R3896:Naa35
|
UTSW |
13 |
59,755,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R5001:Naa35
|
UTSW |
13 |
59,773,345 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5647:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
R5649:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
R5650:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
R5656:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
R6734:Naa35
|
UTSW |
13 |
59,756,005 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6735:Naa35
|
UTSW |
13 |
59,773,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R6985:Naa35
|
UTSW |
13 |
59,775,757 (GRCm39) |
missense |
probably benign |
0.03 |
R7165:Naa35
|
UTSW |
13 |
59,733,997 (GRCm39) |
missense |
probably benign |
0.05 |
R7531:Naa35
|
UTSW |
13 |
59,765,755 (GRCm39) |
nonsense |
probably null |
|
R7713:Naa35
|
UTSW |
13 |
59,745,919 (GRCm39) |
missense |
probably benign |
0.01 |
R7739:Naa35
|
UTSW |
13 |
59,747,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R8685:Naa35
|
UTSW |
13 |
59,734,036 (GRCm39) |
missense |
probably benign |
0.43 |
R8818:Naa35
|
UTSW |
13 |
59,748,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R8838:Naa35
|
UTSW |
13 |
59,775,775 (GRCm39) |
missense |
probably benign |
|
R9006:Naa35
|
UTSW |
13 |
59,748,842 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9132:Naa35
|
UTSW |
13 |
59,772,341 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9403:Naa35
|
UTSW |
13 |
59,748,817 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Posted On |
2016-08-02 |