Incidental Mutation 'IGL03074:Naa25'
ID |
417636 |
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 # |
IGL03074
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
121535977-121580612 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 121546400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042163]
[ENSMUST00000151458]
[ENSMUST00000173895]
|
AlphaFold |
Q8BWZ3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042163
|
SMART Domains |
Protein: ENSMUSP00000038977 Gene: ENSMUSG00000042719
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: ENSMUST00000173895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198012
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,201,101 (GRCm39) |
Y433F |
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Anks4b |
A |
T |
7: 119,781,140 (GRCm39) |
D57V |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,813,050 (GRCm39) |
V1486A |
probably benign |
Het |
Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,174,435 (GRCm39) |
|
probably benign |
Het |
Dnajc22 |
T |
A |
15: 98,999,403 (GRCm39) |
L196Q |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,844,682 (GRCm39) |
L1097P |
possibly damaging |
Het |
Dtna |
T |
C |
18: 23,735,662 (GRCm39) |
V339A |
possibly damaging |
Het |
Dysf |
T |
A |
6: 84,165,208 (GRCm39) |
S1646T |
probably benign |
Het |
Ermp1 |
A |
T |
19: 29,589,935 (GRCm39) |
Y893N |
probably damaging |
Het |
Etv6 |
A |
T |
6: 134,199,888 (GRCm39) |
N76I |
probably damaging |
Het |
Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
Fgf21 |
T |
C |
7: 45,263,605 (GRCm39) |
T158A |
probably benign |
Het |
Gcm1 |
T |
C |
9: 77,972,057 (GRCm39) |
S333P |
possibly damaging |
Het |
Grm7 |
T |
A |
6: 111,472,604 (GRCm39) |
|
probably null |
Het |
Itgae |
T |
C |
11: 73,016,136 (GRCm39) |
F782L |
probably benign |
Het |
Kbtbd8 |
A |
G |
6: 95,099,333 (GRCm39) |
T204A |
probably damaging |
Het |
Kcp |
A |
G |
6: 29,496,630 (GRCm39) |
C627R |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,529,480 (GRCm39) |
V2041A |
possibly damaging |
Het |
Mcm5 |
T |
C |
8: 75,845,929 (GRCm39) |
M379T |
possibly damaging |
Het |
Mcu |
A |
G |
10: 59,303,580 (GRCm39) |
S86P |
probably damaging |
Het |
Or10ag59 |
T |
A |
2: 87,405,680 (GRCm39) |
L84H |
possibly damaging |
Het |
Or5b117 |
A |
G |
19: 13,431,417 (GRCm39) |
S155P |
probably damaging |
Het |
Osbpl9 |
T |
C |
4: 108,929,158 (GRCm39) |
H400R |
probably damaging |
Het |
Pip5kl1 |
A |
G |
2: 32,470,353 (GRCm39) |
N278D |
probably damaging |
Het |
Ppp1r12b |
T |
C |
1: 134,763,758 (GRCm39) |
T759A |
probably benign |
Het |
Psg27 |
T |
C |
7: 18,294,454 (GRCm39) |
T318A |
probably benign |
Het |
Rtkn2 |
T |
G |
10: 67,877,551 (GRCm39) |
L537R |
probably damaging |
Het |
Sdr39u1 |
C |
T |
14: 56,137,103 (GRCm39) |
|
probably null |
Het |
Slc38a1 |
A |
T |
15: 96,490,405 (GRCm39) |
I124N |
possibly damaging |
Het |
Sumf2 |
T |
A |
5: 129,888,674 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,324,680 (GRCm39) |
Y1464H |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,710,877 (GRCm39) |
|
probably benign |
Het |
Zfp366 |
A |
G |
13: 99,382,913 (GRCm39) |
D692G |
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 |
|
IGL03119:Naa25
|
APN |
5 |
121,573,041 (GRCm39) |
missense |
probably null |
1.00 |
IGL03218:Naa25
|
APN |
5 |
121,564,133 (GRCm39) |
missense |
probably damaging |
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 |