Incidental Mutation 'IGL01832:Atp23'
| ID |
154799 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp23
|
| Ensembl Gene |
ENSMUSG00000025436 |
| Gene Name |
ATP23 metallopeptidase and ATP synthase assembly factor homolog |
| Synonyms |
Xrcc6bp1, 2410012H02Rik, 1110068E08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
IGL01832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
126704296-126737224 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126730214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 111
(N111K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026504]
[ENSMUST00000168520]
|
| AlphaFold |
Q9CWQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026504
AA Change: N111K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026504
Gene: ENSMUSG00000025436
AA Change: N111K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M76
|
49 |
197 |
1.3e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168520
AA Change: N111K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128382
Gene: ENSMUSG00000025436
AA Change: N111K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M76
|
50 |
220 |
4.8e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220051
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
G |
A |
8: 77,985,758 (GRCm39) |
T681I |
probably benign |
Het |
| Atg4b |
T |
C |
1: 93,713,626 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,125,262 (GRCm39) |
M1076K |
probably damaging |
Het |
| Atxn2 |
C |
A |
5: 121,944,331 (GRCm39) |
Y72* |
probably null |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,323 (GRCm39) |
D220G |
probably damaging |
Het |
| C2cd3 |
A |
T |
7: 100,076,421 (GRCm39) |
T1171S |
possibly damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,222,640 (GRCm39) |
R585W |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,460,414 (GRCm39) |
Y179* |
probably null |
Het |
| Cpa2 |
T |
C |
6: 30,551,998 (GRCm39) |
S242P |
probably benign |
Het |
| Ctps2 |
G |
T |
X: 161,719,699 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
A |
G |
3: 104,918,544 (GRCm39) |
S99P |
probably damaging |
Het |
| Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,293,725 (GRCm39) |
K722R |
possibly damaging |
Het |
| Ercc8 |
A |
G |
13: 108,305,993 (GRCm39) |
T123A |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,280,111 (GRCm39) |
V87A |
probably damaging |
Het |
| Fkbp8 |
A |
G |
8: 70,984,195 (GRCm39) |
H182R |
probably benign |
Het |
| Gab2 |
T |
C |
7: 96,953,445 (GRCm39) |
L606P |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,568 (GRCm39) |
|
probably null |
Het |
| Hook3 |
A |
T |
8: 26,562,393 (GRCm39) |
M224K |
possibly damaging |
Het |
| Itga5 |
T |
A |
15: 103,264,376 (GRCm39) |
K298* |
probably null |
Het |
| Itprid2 |
G |
A |
2: 79,481,762 (GRCm39) |
V481M |
possibly damaging |
Het |
| Lrrc74a |
C |
A |
12: 86,808,488 (GRCm39) |
T422K |
probably benign |
Het |
| Myh9 |
A |
C |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
| Ndrg4 |
A |
G |
8: 96,439,947 (GRCm39) |
E349G |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,820,513 (GRCm39) |
D19E |
probably benign |
Het |
| Otop2 |
T |
C |
11: 115,217,769 (GRCm39) |
S202P |
probably benign |
Het |
| Plppr2 |
C |
A |
9: 21,854,742 (GRCm39) |
R138S |
possibly damaging |
Het |
| Prkaca |
A |
C |
8: 84,717,366 (GRCm39) |
K206N |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,370,666 (GRCm39) |
T589I |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,401,700 (GRCm39) |
|
probably null |
Het |
| Slc16a5 |
T |
C |
11: 115,355,827 (GRCm39) |
V96A |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,707,620 (GRCm39) |
K1047E |
probably damaging |
Het |
| Tinag |
T |
C |
9: 76,939,038 (GRCm39) |
K147E |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,325 (GRCm39) |
T338A |
probably damaging |
Het |
| Wdr74 |
C |
T |
19: 8,717,302 (GRCm39) |
R299C |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,765,892 (GRCm39) |
S1473L |
probably damaging |
Het |
|
| Other mutations in Atp23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Atp23
|
APN |
10 |
126,736,969 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03097:Atp23
|
UTSW |
10 |
126,723,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Atp23
|
UTSW |
10 |
126,727,595 (GRCm39) |
splice site |
probably null |
|
|
R5114:Atp23
|
UTSW |
10 |
126,723,403 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5505:Atp23
|
UTSW |
10 |
126,723,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5652:Atp23
|
UTSW |
10 |
126,735,494 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5778:Atp23
|
UTSW |
10 |
126,735,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Atp23
|
UTSW |
10 |
126,723,431 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6334:Atp23
|
UTSW |
10 |
126,723,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7537:Atp23
|
UTSW |
10 |
126,704,594 (GRCm39) |
missense |
unknown |
|
|
R8253:Atp23
|
UTSW |
10 |
126,704,543 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8351:Atp23
|
UTSW |
10 |
126,723,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Atp23
|
UTSW |
10 |
126,723,362 (GRCm39) |
makesense |
probably null |
|
|
R8928:Atp23
|
UTSW |
10 |
126,723,362 (GRCm39) |
makesense |
probably null |
|
|
R9773:Atp23
|
UTSW |
10 |
126,734,763 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2014-02-04 |
Incidental Mutation