Incidental Mutation 'R1288:Atxn3'
| ID |
262734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn3
|
| Ensembl Gene |
ENSMUSG00000021189 |
| Gene Name |
ataxin 3 |
| Synonyms |
ataxin-3, Sca3, Mjd, MJD1, 2210008M02Rik, Atx3 |
| MMRRC Submission |
039354-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1288 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
101885160-101924505 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 101908437 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 null
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 null
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 null
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 null
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 |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
T |
5: 129,206,071 (GRCm39) |
D247V |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,196,620 (GRCm39) |
S184C |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| BC005537 |
A |
T |
13: 24,988,883 (GRCm39) |
E54V |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,403,617 (GRCm39) |
E881V |
probably damaging |
Het |
| Cep126 |
A |
T |
9: 8,112,182 (GRCm39) |
N130K |
probably benign |
Het |
| Enoph1 |
A |
G |
5: 100,188,138 (GRCm39) |
T21A |
possibly damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,166,361 (GRCm39) |
I165T |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,741,799 (GRCm39) |
N305K |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,979,308 (GRCm39) |
T561A |
probably benign |
Het |
| Mup21 |
G |
T |
4: 62,068,934 (GRCm39) |
A19E |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,244,544 (GRCm39) |
I1027T |
probably benign |
Het |
| Nkg7 |
A |
G |
7: 43,087,086 (GRCm39) |
|
probably null |
Het |
| Nme8 |
A |
G |
13: 19,858,619 (GRCm39) |
V73A |
possibly damaging |
Het |
| Or2g1 |
T |
A |
17: 38,106,584 (GRCm39) |
L83Q |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,586,114 (GRCm39) |
T151A |
probably benign |
Het |
| Or52a5 |
A |
T |
7: 103,427,249 (GRCm39) |
L101Q |
possibly damaging |
Het |
| Or5w12 |
G |
A |
2: 87,501,916 (GRCm39) |
A265V |
probably benign |
Het |
| Or6c69c |
A |
G |
10: 129,911,154 (GRCm39) |
N292D |
probably damaging |
Het |
| Rapgef3 |
C |
A |
15: 97,657,223 (GRCm39) |
S267I |
probably benign |
Het |
| Trhde |
T |
A |
10: 114,637,195 (GRCm39) |
D4V |
probably benign |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
| Zfp40 |
T |
A |
17: 23,401,136 (GRCm39) |
I36L |
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 |
|
IGL01364:Atxn3
|
APN |
12 |
101,900,682 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation