Incidental Mutation 'R2882:Atxn3'
| ID |
260360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn3
|
| Ensembl Gene |
ENSMUSG00000021189 |
| Gene Name |
ataxin 3 |
| Synonyms |
ataxin-3, Sca3, Mjd, MJD1, 2210008M02Rik, Atx3 |
| MMRRC Submission |
040470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
101885160-101924505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101903670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 178
(L178F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021606]
[ENSMUST00000159883]
[ENSMUST00000160251]
[ENSMUST00000161011]
|
| AlphaFold |
Q9CVD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021606
AA Change: L178F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189
AA Change: L178F
| 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
AA Change: L174F
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124419
Gene: ENSMUSG00000021189
AA Change: L174F
| 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 |
possibly damaging
Transcript: ENSMUST00000160251
AA Change: L178F
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125082
Gene: ENSMUSG00000021189
AA Change: L178F
| 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 damaging
Transcript: ENSMUST00000161011
AA Change: L178F
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125378
Gene: ENSMUSG00000021189
AA Change: L178F
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
| Csl |
A |
G |
10: 99,594,787 (GRCm39) |
F93L |
probably damaging |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
| Dcaf17 |
A |
G |
2: 70,912,371 (GRCm39) |
I319V |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
| Gsdmc |
T |
C |
15: 63,651,644 (GRCm39) |
I259V |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
C |
T |
9: 89,484,855 (GRCm39) |
V181I |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
| Oasl2 |
C |
T |
5: 115,049,084 (GRCm39) |
R175C |
probably damaging |
Het |
| Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,777,239 (GRCm39) |
Y502N |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
A |
13: 59,890,757 (GRCm39) |
Q354H |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
possibly damaging |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TCACCAACGGTAAAGTGATCAC -3'
(R):5'- CTTCGAGATGAGAAGAGTGATCC -3'
Sequencing Primer
(F):5'- AGGGTTCAAATACGTCCTGC -3'
(R):5'- TTCCTAATCCAAGCGAGAGTCGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation