Incidental Mutation 'IGL03119:Naa25'
| ID |
409900 |
| 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 # |
IGL03119
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121397936-121444378 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121434978 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 720
(V720E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042163]
[ENSMUST00000151458]
[ENSMUST00000153758]
[ENSMUST00000173895]
|
| AlphaFold |
Q8BWZ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042163
AA Change: V720E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038977
Gene: ENSMUSG00000042719
AA Change: V720E
| 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 |
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: ENSMUST00000172908
|
| SMART Domains |
Protein: ENSMUSP00000134345
Gene: ENSMUSG00000042719
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,714,887 |
T626A |
probably benign |
Het |
| Adcy1 |
C |
T |
11: 7,109,051 |
T319I |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,382,373 |
S5861P |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,433,700 |
C4742G |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,243,227 |
D93E |
probably damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,095,669 |
T121A |
probably benign |
Het |
| Atxn7 |
C |
T |
14: 14,100,734 |
L807F |
probably damaging |
Het |
| Cep104 |
A |
C |
4: 153,981,724 |
K126N |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,339,976 |
E708G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,161,062 |
Y107C |
probably damaging |
Het |
| E2f3 |
A |
G |
13: 29,985,365 |
S102P |
probably benign |
Het |
| Eif3e |
A |
C |
15: 43,265,604 |
S207A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,713,387 |
Y313C |
probably damaging |
Het |
| Fyttd1 |
T |
C |
16: 32,900,695 |
V121A |
probably benign |
Het |
| Gstk1 |
T |
C |
6: 42,249,899 |
S200P |
probably damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,212,334 |
F244L |
probably null |
Het |
| Ints7 |
T |
C |
1: 191,610,365 |
V491A |
probably damaging |
Het |
| Kcnd2 |
G |
T |
6: 21,216,509 |
E71* |
probably null |
Het |
| Ltbp3 |
A |
T |
19: 5,757,443 |
Q1123L |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,174,015 |
T961A |
probably benign |
Het |
| Olfr1480 |
T |
C |
19: 13,530,435 |
I298T |
probably benign |
Het |
| Olfr599 |
A |
G |
7: 103,338,722 |
I223V |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,475,014 |
T433N |
probably damaging |
Het |
| Peli1 |
T |
C |
11: 21,140,560 |
|
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,859,624 |
V209A |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,452,003 |
Y31C |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 118,195,113 |
|
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,283,517 |
M457V |
probably benign |
Het |
| Trpm6 |
G |
T |
19: 18,838,017 |
E1156* |
probably null |
Het |
| Usp53 |
T |
A |
3: 122,961,415 |
R130S |
possibly damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,606,541 |
S193P |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 147,042,872 |
I626V |
probably damaging |
Het |
| Zfp574 |
G |
A |
7: 25,080,473 |
A307T |
probably benign |
Het |
|
| Other mutations in Naa25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02025:Naa25
|
APN |
5 |
121,439,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02142:Naa25
|
APN |
5 |
121,426,762 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02541:Naa25
|
APN |
5 |
121,424,531 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02747:Naa25
|
APN |
5 |
121,414,605 (GRCm38) |
splice site |
probably benign |
|
|
IGL03074:Naa25
|
APN |
5 |
121,408,337 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03218:Naa25
|
APN |
5 |
121,426,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0003:Naa25
|
UTSW |
5 |
121,407,184 (GRCm38) |
intron |
probably benign |
|
|
R0022:Naa25
|
UTSW |
5 |
121,417,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0022:Naa25
|
UTSW |
5 |
121,417,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0102:Naa25
|
UTSW |
5 |
121,435,569 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0102:Naa25
|
UTSW |
5 |
121,435,569 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0399:Naa25
|
UTSW |
5 |
121,435,490 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0973:Naa25
|
UTSW |
5 |
121,438,716 (GRCm38) |
splice site |
probably benign |
|
|
R1418:Naa25
|
UTSW |
5 |
121,423,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1582:Naa25
|
UTSW |
5 |
121,434,829 (GRCm38) |
missense |
probably benign |
|
|
R1793:Naa25
|
UTSW |
5 |
121,417,415 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1793:Naa25
|
UTSW |
5 |
121,420,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1863:Naa25
|
UTSW |
5 |
121,435,548 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3160:Naa25
|
UTSW |
5 |
121,435,072 (GRCm38) |
splice site |
probably null |
|
|
R3162:Naa25
|
UTSW |
5 |
121,435,072 (GRCm38) |
splice site |
probably null |
|
|
R3721:Naa25
|
UTSW |
5 |
121,431,556 (GRCm38) |
missense |
probably benign |
|
|
R3864:Naa25
|
UTSW |
5 |
121,409,197 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4852:Naa25
|
UTSW |
5 |
121,430,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5077:Naa25
|
UTSW |
5 |
121,424,576 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5602:Naa25
|
UTSW |
5 |
121,420,495 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5855:Naa25
|
UTSW |
5 |
121,423,692 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6464:Naa25
|
UTSW |
5 |
121,417,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6734:Naa25
|
UTSW |
5 |
121,438,825 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6750:Naa25
|
UTSW |
5 |
121,408,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6767:Naa25
|
UTSW |
5 |
121,439,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6856:Naa25
|
UTSW |
5 |
121,438,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7145:Naa25
|
UTSW |
5 |
121,417,489 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7631:Naa25
|
UTSW |
5 |
121,438,728 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7701:Naa25
|
UTSW |
5 |
121,425,979 (GRCm38) |
missense |
probably benign |
|
|
R7800:Naa25
|
UTSW |
5 |
121,424,531 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7804:Naa25
|
UTSW |
5 |
121,424,589 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7822:Naa25
|
UTSW |
5 |
121,407,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8707:Naa25
|
UTSW |
5 |
121,414,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8944:Naa25
|
UTSW |
5 |
121,414,510 (GRCm38) |
missense |
probably benign |
0.34 |
|
R9486:Naa25
|
UTSW |
5 |
121,439,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0004:Naa25
|
UTSW |
5 |
121,413,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation