Incidental Mutation 'IGL03218:Naa25'
ID |
413549 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Naa25
|
Ensembl Gene |
ENSMUSG00000042719 |
Gene Name |
N(alpha)-acetyltransferase 25, NatB auxiliary subunit |
Synonyms |
C330023M02Rik, 4833422K13Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03218
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
121535977-121580612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121564133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 516
(Y516C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042163]
[ENSMUST00000151458]
[ENSMUST00000153758]
[ENSMUST00000173895]
|
AlphaFold |
Q8BWZ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042163
AA Change: Y516C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038977 Gene: ENSMUSG00000042719 AA Change: Y516C
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
45 |
N/A |
INTRINSIC |
Pfam:NatB_MDM20
|
263 |
658 |
1.6e-121 |
PFAM |
low complexity region
|
672 |
683 |
N/A |
INTRINSIC |
low complexity region
|
687 |
700 |
N/A |
INTRINSIC |
low complexity region
|
721 |
734 |
N/A |
INTRINSIC |
low complexity region
|
915 |
935 |
N/A |
INTRINSIC |
low complexity region
|
958 |
971 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151458
|
SMART Domains |
Protein: ENSMUSP00000120970 Gene: ENSMUSG00000042719
Domain | Start | End | E-Value | Type |
SCOP:d1a17__
|
21 |
94 |
1e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153758
|
SMART Domains |
Protein: ENSMUSP00000122522 Gene: ENSMUSG00000029616
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
SCOP:d1g7ea_
|
35 |
55 |
3e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173895
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
C |
5: 125,561,727 (GRCm39) |
|
probably null |
Het |
Acot9 |
T |
A |
X: 154,078,207 (GRCm39) |
V251E |
possibly damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,648,021 (GRCm39) |
S600P |
possibly damaging |
Het |
Amfr |
A |
T |
8: 94,726,964 (GRCm39) |
M157K |
probably damaging |
Het |
Arvcf |
T |
C |
16: 18,222,875 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,699,949 (GRCm39) |
V1924A |
possibly damaging |
Het |
Atp10a |
T |
A |
7: 58,438,196 (GRCm39) |
|
probably null |
Het |
Atp1a2 |
T |
A |
1: 172,116,870 (GRCm39) |
E249V |
probably null |
Het |
C1qc |
A |
G |
4: 136,617,598 (GRCm39) |
L166P |
probably damaging |
Het |
Col4a3 |
C |
A |
1: 82,620,927 (GRCm39) |
|
probably benign |
Het |
Def8 |
A |
G |
8: 124,183,175 (GRCm39) |
D258G |
probably damaging |
Het |
Dll1 |
T |
C |
17: 15,593,830 (GRCm39) |
D179G |
probably benign |
Het |
Dnah14 |
C |
A |
1: 181,582,834 (GRCm39) |
H3124Q |
probably benign |
Het |
Fabp5 |
T |
A |
3: 10,080,023 (GRCm39) |
|
probably benign |
Het |
Fam133b |
C |
T |
5: 3,604,684 (GRCm39) |
Q24* |
probably null |
Het |
Fam13c |
A |
C |
10: 70,284,599 (GRCm39) |
D25A |
possibly damaging |
Het |
Flna |
A |
G |
X: 73,278,208 (GRCm39) |
|
probably null |
Het |
Frem1 |
T |
A |
4: 82,832,883 (GRCm39) |
T1917S |
probably benign |
Het |
Frmd4b |
T |
C |
6: 97,285,075 (GRCm39) |
T337A |
probably benign |
Het |
Fxyd7 |
C |
T |
7: 30,743,995 (GRCm39) |
|
probably null |
Het |
Galnt5 |
T |
G |
2: 57,889,401 (GRCm39) |
S334A |
possibly damaging |
Het |
Gm10220 |
T |
C |
5: 26,323,696 (GRCm39) |
K117R |
probably damaging |
Het |
Gpd2 |
T |
A |
2: 57,197,066 (GRCm39) |
L207H |
probably damaging |
Het |
H2-M10.3 |
T |
A |
17: 36,678,279 (GRCm39) |
Y182F |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,115,836 (GRCm39) |
I1018V |
possibly damaging |
Het |
Letmd1 |
T |
C |
15: 100,367,709 (GRCm39) |
F89S |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,318,567 (GRCm39) |
Y696C |
probably damaging |
Het |
Mcpt9 |
A |
G |
14: 56,264,908 (GRCm39) |
Y198H |
probably damaging |
Het |
Mmp1b |
A |
G |
9: 7,387,907 (GRCm39) |
V29A |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,391,311 (GRCm39) |
D940G |
possibly damaging |
Het |
Myzap |
A |
G |
9: 71,462,871 (GRCm39) |
M225T |
probably benign |
Het |
Nsdhl |
T |
A |
X: 72,000,052 (GRCm39) |
|
probably benign |
Het |
Olfml1 |
A |
G |
7: 107,170,476 (GRCm39) |
E121G |
possibly damaging |
Het |
Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,935 (GRCm39) |
V45A |
probably benign |
Het |
Or8k38 |
A |
G |
2: 86,488,703 (GRCm39) |
I33T |
probably benign |
Het |
Phex |
C |
T |
X: 155,961,783 (GRCm39) |
G636E |
probably damaging |
Het |
Pkd2l2 |
A |
T |
18: 34,563,373 (GRCm39) |
I475F |
probably damaging |
Het |
Polr2b |
T |
A |
5: 77,463,764 (GRCm39) |
S54T |
probably benign |
Het |
Prkx |
A |
T |
X: 76,829,806 (GRCm39) |
L85Q |
probably damaging |
Het |
Smc1b |
A |
T |
15: 84,973,914 (GRCm39) |
I914N |
probably benign |
Het |
Susd2 |
A |
G |
10: 75,478,459 (GRCm39) |
L39P |
probably benign |
Het |
Teddm2 |
C |
T |
1: 153,726,770 (GRCm39) |
V35I |
probably benign |
Het |
Tspo |
T |
A |
15: 83,455,631 (GRCm39) |
V6E |
possibly damaging |
Het |
Vps41 |
G |
T |
13: 19,013,440 (GRCm39) |
V353F |
possibly damaging |
Het |
Wfdc18 |
T |
A |
11: 83,600,033 (GRCm39) |
|
probably null |
Het |
Wsb1 |
C |
T |
11: 79,139,324 (GRCm39) |
S124N |
probably damaging |
Het |
Zfp445 |
T |
C |
9: 122,686,594 (GRCm39) |
E177G |
probably benign |
Het |
Zfp759 |
G |
T |
13: 67,287,480 (GRCm39) |
V344L |
probably benign |
Het |
|
Other mutations in Naa25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02025:Naa25
|
APN |
5 |
121,577,928 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02142:Naa25
|
APN |
5 |
121,564,825 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02541:Naa25
|
APN |
5 |
121,562,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02747:Naa25
|
APN |
5 |
121,552,668 (GRCm39) |
splice site |
probably benign |
|
IGL03074:Naa25
|
APN |
5 |
121,546,400 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03119:Naa25
|
APN |
5 |
121,573,041 (GRCm39) |
missense |
probably null |
1.00 |
R0003:Naa25
|
UTSW |
5 |
121,545,247 (GRCm39) |
intron |
probably benign |
|
R0022:Naa25
|
UTSW |
5 |
121,556,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R0022:Naa25
|
UTSW |
5 |
121,556,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R0102:Naa25
|
UTSW |
5 |
121,573,632 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0102:Naa25
|
UTSW |
5 |
121,573,632 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0399:Naa25
|
UTSW |
5 |
121,573,553 (GRCm39) |
missense |
probably benign |
0.00 |
R0973:Naa25
|
UTSW |
5 |
121,576,779 (GRCm39) |
splice site |
probably benign |
|
R1418:Naa25
|
UTSW |
5 |
121,561,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R1582:Naa25
|
UTSW |
5 |
121,572,892 (GRCm39) |
missense |
probably benign |
|
R1793:Naa25
|
UTSW |
5 |
121,558,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Naa25
|
UTSW |
5 |
121,555,478 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1863:Naa25
|
UTSW |
5 |
121,573,611 (GRCm39) |
missense |
probably benign |
0.00 |
R3160:Naa25
|
UTSW |
5 |
121,573,135 (GRCm39) |
splice site |
probably null |
|
R3162:Naa25
|
UTSW |
5 |
121,573,135 (GRCm39) |
splice site |
probably null |
|
R3721:Naa25
|
UTSW |
5 |
121,569,619 (GRCm39) |
missense |
probably benign |
|
R3864:Naa25
|
UTSW |
5 |
121,547,260 (GRCm39) |
missense |
probably damaging |
0.96 |
R4852:Naa25
|
UTSW |
5 |
121,568,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R5077:Naa25
|
UTSW |
5 |
121,562,639 (GRCm39) |
missense |
probably benign |
0.02 |
R5602:Naa25
|
UTSW |
5 |
121,558,558 (GRCm39) |
missense |
probably benign |
0.30 |
R5855:Naa25
|
UTSW |
5 |
121,561,755 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6464:Naa25
|
UTSW |
5 |
121,556,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R6734:Naa25
|
UTSW |
5 |
121,576,888 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6750:Naa25
|
UTSW |
5 |
121,546,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R6767:Naa25
|
UTSW |
5 |
121,577,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R6856:Naa25
|
UTSW |
5 |
121,576,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R7145:Naa25
|
UTSW |
5 |
121,555,552 (GRCm39) |
critical splice donor site |
probably null |
|
R7631:Naa25
|
UTSW |
5 |
121,576,791 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7701:Naa25
|
UTSW |
5 |
121,564,042 (GRCm39) |
missense |
probably benign |
|
R7800:Naa25
|
UTSW |
5 |
121,562,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7804:Naa25
|
UTSW |
5 |
121,562,652 (GRCm39) |
missense |
probably benign |
0.00 |
R7822:Naa25
|
UTSW |
5 |
121,545,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R8707:Naa25
|
UTSW |
5 |
121,552,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R8944:Naa25
|
UTSW |
5 |
121,552,573 (GRCm39) |
missense |
probably benign |
0.34 |
R9486:Naa25
|
UTSW |
5 |
121,577,958 (GRCm39) |
missense |
probably damaging |
1.00 |
X0004:Naa25
|
UTSW |
5 |
121,551,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |