Incidental Mutation 'IGL01364:Atxn3'
| ID |
75891 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atxn3
|
| Ensembl Gene |
ENSMUSG00000021189 |
| Gene Name |
ataxin 3 |
| Synonyms |
ataxin-3, Sca3, Mjd, MJD1, 2210008M02Rik, Atx3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01364
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
101885160-101924505 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 101900682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021606]
[ENSMUST00000159883]
[ENSMUST00000160251]
[ENSMUST00000161011]
|
| AlphaFold |
Q9CVD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021606
|
| SMART Domains |
Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189
| Domain | Start | End | E-Value | Type |
|---|
|
Josephin
|
8 |
168 |
1.6e-91 |
SMART |
|
UIM
|
224 |
243 |
2.23e-1 |
SMART |
|
UIM
|
244 |
263 |
1.51e-3 |
SMART |
|
low complexity region
|
276 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
UIM
|
329 |
348 |
7.34e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159883
|
| SMART Domains |
Protein: ENSMUSP00000124419
Gene: ENSMUSG00000021189
| Domain | Start | End | E-Value | Type |
|---|
|
Josephin
|
5 |
164 |
1.1e-89 |
SMART |
|
UIM
|
220 |
239 |
2.23e-1 |
SMART |
|
UIM
|
240 |
259 |
1.51e-3 |
SMART |
|
low complexity region
|
272 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160186
|
| SMART Domains |
Protein: ENSMUSP00000124178
Gene: ENSMUSG00000021189
| Domain | Start | End | E-Value | Type |
|---|
|
UIM
|
2 |
21 |
2.23e-1 |
SMART |
|
UIM
|
22 |
41 |
1.51e-3 |
SMART |
|
low complexity region
|
54 |
64 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160251
|
| SMART Domains |
Protein: ENSMUSP00000125082
Gene: ENSMUSG00000021189
| Domain | Start | End | E-Value | Type |
|---|
|
Josephin
|
8 |
168 |
1.6e-91 |
SMART |
|
UIM
|
224 |
243 |
2.23e-1 |
SMART |
|
UIM
|
244 |
263 |
8.77e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161011
|
| SMART Domains |
Protein: ENSMUSP00000125378
Gene: ENSMUSG00000021189
| Domain | Start | End | E-Value | Type |
|---|
|
Josephin
|
8 |
168 |
1.6e-91 |
SMART |
|
UIM
|
224 |
243 |
2.23e-1 |
SMART |
|
UIM
|
244 |
263 |
1.51e-3 |
SMART |
|
low complexity region
|
276 |
286 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
A |
4: 40,181,380 (GRCm39) |
|
probably null |
Het |
| Acot6 |
T |
C |
12: 84,147,840 (GRCm39) |
V32A |
possibly damaging |
Het |
| Aff3 |
A |
T |
1: 38,574,762 (GRCm39) |
L73I |
probably damaging |
Het |
| Aldh1l2 |
C |
A |
10: 83,328,531 (GRCm39) |
D729Y |
probably damaging |
Het |
| Alox15 |
T |
C |
11: 70,235,992 (GRCm39) |
Q525R |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,747,677 (GRCm39) |
Y320H |
probably benign |
Het |
| Caprin2 |
C |
A |
6: 148,774,526 (GRCm39) |
S262I |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,612,653 (GRCm39) |
|
probably null |
Het |
| Ccdc14 |
T |
A |
16: 34,543,583 (GRCm39) |
L647H |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,176 (GRCm39) |
D49G |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,308,081 (GRCm39) |
T1280A |
probably benign |
Het |
| Ddb1 |
T |
C |
19: 10,605,024 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 66,046,285 (GRCm39) |
Y88H |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,540,512 (GRCm39) |
T351A |
probably damaging |
Het |
| Evi2b |
T |
A |
11: 79,407,449 (GRCm39) |
Y42F |
probably benign |
Het |
| Fdps |
A |
T |
3: 89,001,577 (GRCm39) |
C274* |
probably null |
Het |
| Flnb |
A |
C |
14: 7,934,562 (GRCm38) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,306,643 (GRCm39) |
V917E |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,251,826 (GRCm39) |
Q854* |
probably null |
Het |
| Hmgxb3 |
T |
C |
18: 61,279,506 (GRCm39) |
Y769C |
probably damaging |
Het |
| Hps3 |
G |
T |
3: 20,057,469 (GRCm39) |
Q772K |
possibly damaging |
Het |
| Ifnab |
T |
C |
4: 88,608,987 (GRCm39) |
S160G |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,082,999 (GRCm39) |
E652G |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,397,716 (GRCm39) |
L255S |
probably damaging |
Het |
| Kbtbd7 |
T |
A |
14: 79,665,486 (GRCm39) |
D439E |
possibly damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,081,128 (GRCm39) |
F289L |
probably benign |
Het |
| Mapk6 |
A |
C |
9: 75,296,072 (GRCm39) |
D475E |
possibly damaging |
Het |
| Msh5 |
A |
G |
17: 35,247,745 (GRCm39) |
V825A |
possibly damaging |
Het |
| Mst1 |
A |
G |
9: 107,958,800 (GRCm39) |
I111V |
probably benign |
Het |
| Myo1h |
T |
A |
5: 114,486,500 (GRCm39) |
I586N |
probably damaging |
Het |
| Or4k36 |
G |
T |
2: 111,146,015 (GRCm39) |
A64S |
probably damaging |
Het |
| Panx1 |
C |
T |
9: 14,932,761 (GRCm39) |
V80M |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,531,533 (GRCm39) |
I803N |
probably benign |
Het |
| Rasa4 |
T |
C |
5: 136,124,425 (GRCm39) |
V158A |
possibly damaging |
Het |
| Rbp3 |
T |
A |
14: 33,676,145 (GRCm39) |
M31K |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,951,404 (GRCm39) |
K154E |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,604,356 (GRCm39) |
|
probably null |
Het |
| Sox5 |
C |
T |
6: 144,062,198 (GRCm39) |
M151I |
probably damaging |
Het |
| Sun1 |
T |
A |
5: 139,220,496 (GRCm39) |
L290Q |
probably damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,380,872 (GRCm39) |
I155N |
probably damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,501 (GRCm39) |
K368R |
probably benign |
Het |
| Tuft1 |
A |
G |
3: 94,542,810 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
A |
G |
9: 40,929,311 (GRCm39) |
|
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,855,200 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
T |
C |
6: 119,914,372 (GRCm39) |
E80G |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
probably benign |
Het |
|
| Other mutations in Atxn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Atxn3
|
APN |
12 |
101,892,767 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01393:Atxn3
|
APN |
12 |
101,899,306 (GRCm39) |
nonsense |
probably null |
|
|
IGL01994:Atxn3
|
APN |
12 |
101,908,439 (GRCm39) |
missense |
probably benign |
|
|
IGL03214:Atxn3
|
APN |
12 |
101,912,181 (GRCm39) |
splice site |
probably benign |
|
|
R1081:Atxn3
|
UTSW |
12 |
101,900,608 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1255:Atxn3
|
UTSW |
12 |
101,900,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1288:Atxn3
|
UTSW |
12 |
101,908,437 (GRCm39) |
splice site |
probably null |
|
|
R1435:Atxn3
|
UTSW |
12 |
101,908,460 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1466:Atxn3
|
UTSW |
12 |
101,892,758 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1466:Atxn3
|
UTSW |
12 |
101,892,758 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2032:Atxn3
|
UTSW |
12 |
101,908,453 (GRCm39) |
nonsense |
probably null |
|
|
R2345:Atxn3
|
UTSW |
12 |
101,914,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2882:Atxn3
|
UTSW |
12 |
101,903,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4593:Atxn3
|
UTSW |
12 |
101,889,436 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4628:Atxn3
|
UTSW |
12 |
101,889,337 (GRCm39) |
unclassified |
probably benign |
|
|
R4849:Atxn3
|
UTSW |
12 |
101,900,627 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4876:Atxn3
|
UTSW |
12 |
101,914,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Atxn3
|
UTSW |
12 |
101,914,638 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5682:Atxn3
|
UTSW |
12 |
101,924,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Atxn3
|
UTSW |
12 |
101,914,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Atxn3
|
UTSW |
12 |
101,900,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6629:Atxn3
|
UTSW |
12 |
101,903,665 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7460:Atxn3
|
UTSW |
12 |
101,892,776 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7546:Atxn3
|
UTSW |
12 |
101,914,261 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8353:Atxn3
|
UTSW |
12 |
101,912,159 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9050:Atxn3
|
UTSW |
12 |
101,924,387 (GRCm39) |
splice site |
probably benign |
|
|
R9072:Atxn3
|
UTSW |
12 |
101,903,730 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9073:Atxn3
|
UTSW |
12 |
101,903,730 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0061:Atxn3
|
UTSW |
12 |
101,924,398 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation