Incidental Mutation 'IGL02128:Atad1'
| ID |
280961 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atad1
|
| Ensembl Gene |
ENSMUSG00000013662 |
| Gene Name |
ATPase family, AAA domain containing 1 |
| Synonyms |
Thorase, 4921525H23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.509)
|
| Stock # |
IGL02128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
32649958-32717187 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 32664727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070210]
|
| AlphaFold |
Q9D5T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070210
|
| SMART Domains |
Protein: ENSMUSP00000069962
Gene: ENSMUSG00000013662
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
45 |
73 |
N/A |
INTRINSIC |
|
AAA
|
125 |
261 |
3.3e-17 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, seizure, absent LTD, enhanced LTP, enhanced AMPA-mediated currents, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bard1 |
T |
C |
1: 71,114,387 (GRCm39) |
K198R |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,421,808 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,817,093 (GRCm39) |
E406G |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,198,153 (GRCm39) |
T216A |
probably benign |
Het |
| Dnah7a |
C |
T |
1: 53,476,672 (GRCm39) |
S3424N |
probably damaging |
Het |
| Golgb1 |
T |
G |
16: 36,736,666 (GRCm39) |
L1971R |
probably damaging |
Het |
| Hspg2 |
T |
G |
4: 137,291,327 (GRCm39) |
C3892W |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,079,648 (GRCm39) |
L2214P |
probably damaging |
Het |
| Klkb1 |
A |
T |
8: 45,740,068 (GRCm39) |
F75I |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,027,564 (GRCm39) |
V702E |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,711,135 (GRCm39) |
N60I |
possibly damaging |
Het |
| Pex5 |
A |
T |
6: 124,375,419 (GRCm39) |
N534K |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,578,178 (GRCm39) |
L383Q |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,417,608 (GRCm39) |
V1168A |
probably damaging |
Het |
| Scpppq1 |
A |
G |
5: 104,222,569 (GRCm39) |
|
probably null |
Het |
| Slc2a2 |
A |
G |
3: 28,773,550 (GRCm39) |
E285G |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,872,398 (GRCm39) |
N1171I |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,070,645 (GRCm39) |
I744V |
probably benign |
Het |
|
| Other mutations in Atad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Atad1
|
APN |
19 |
32,675,968 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02441:Atad1
|
APN |
19 |
32,684,348 (GRCm39) |
missense |
probably benign |
|
|
R0332:Atad1
|
UTSW |
19 |
32,679,934 (GRCm39) |
splice site |
probably benign |
|
|
R0433:Atad1
|
UTSW |
19 |
32,675,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1529:Atad1
|
UTSW |
19 |
32,684,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1981:Atad1
|
UTSW |
19 |
32,673,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3156:Atad1
|
UTSW |
19 |
32,684,355 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4490:Atad1
|
UTSW |
19 |
32,673,197 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4866:Atad1
|
UTSW |
19 |
32,679,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5253:Atad1
|
UTSW |
19 |
32,651,702 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5284:Atad1
|
UTSW |
19 |
32,664,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6118:Atad1
|
UTSW |
19 |
32,664,697 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6224:Atad1
|
UTSW |
19 |
32,676,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Atad1
|
UTSW |
19 |
32,678,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9523:Atad1
|
UTSW |
19 |
32,684,323 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2015-04-16 |
Incidental Mutation