Incidental Mutation 'R2345:Atxn3'
| ID |
245991 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101885160-101924505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101914580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 48
(M48K)
|
| 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: M48K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189
AA Change: M48K
| 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: M45K
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124419
Gene: ENSMUSG00000021189
AA Change: M45K
| 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 |
possibly damaging
Transcript: ENSMUST00000160251
AA Change: M48K
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125082
Gene: ENSMUSG00000021189
AA Change: M48K
| 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
AA Change: M48K
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000125378
Gene: ENSMUSG00000021189
AA Change: M48K
| 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 |
|
| Meta Mutation Damage Score |
0.7412 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (30/30) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bnc2 |
T |
C |
4: 84,210,740 (GRCm39) |
E638G |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Ceacam3 |
T |
G |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Ckb |
G |
A |
12: 111,638,238 (GRCm39) |
T52I |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,891,900 (GRCm39) |
M773T |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,203,872 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,156,806 (GRCm39) |
D582G |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,983,348 (GRCm39) |
N982K |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,872,684 (GRCm39) |
E1190G |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,370 (GRCm39) |
E90G |
probably damaging |
Het |
| Kynu |
A |
C |
2: 43,471,397 (GRCm39) |
Y71S |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,690,016 (GRCm39) |
|
probably null |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,069 (GRCm39) |
M64L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,992,700 (GRCm39) |
F302Y |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,501,769 (GRCm39) |
S111P |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or1f19 |
G |
A |
16: 3,411,003 (GRCm39) |
V248M |
probably damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,166 (GRCm39) |
T2A |
probably benign |
Het |
| Or8b57 |
T |
G |
9: 40,003,849 (GRCm39) |
I138L |
probably benign |
Het |
| Phf3 |
G |
T |
1: 30,844,432 (GRCm39) |
S1509* |
probably null |
Het |
| Plekhh1 |
A |
T |
12: 79,100,421 (GRCm39) |
I130F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,238,594 (GRCm39) |
F1953S |
unknown |
Het |
| Togaram1 |
T |
A |
12: 65,055,406 (GRCm39) |
S1466T |
probably benign |
Het |
| Tox2 |
T |
C |
2: 163,161,518 (GRCm39) |
Y348H |
probably damaging |
Het |
| Vmn2r129 |
T |
A |
4: 156,689,334 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr90 |
G |
T |
17: 26,078,136 (GRCm39) |
H411N |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,798 (GRCm39) |
T632I |
probably 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 |
|
|
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 |
PCR Primer
(F):5'- CCATTTCCCAAGTGAGGAGGAG -3'
(R):5'- GCATGGGGCTTACAAAGTTTG -3'
Sequencing Primer
(F):5'- AGCAGAGTGATAATTACCGAGTC -3'
(R):5'- GCTTACAAAGTTTGTTTTGACTGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation