Incidental Mutation 'R1081:Atxn3'
ID |
152719 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn3
|
Ensembl Gene |
ENSMUSG00000021189 |
Gene Name |
ataxin 3 |
Synonyms |
ataxin-3, Sca3, Mjd, MJD1, 2210008M02Rik, Atx3 |
MMRRC Submission |
039167-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1081 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
101885160-101924505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 101900608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 225
(D225A)
|
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: D225A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021606 Gene: ENSMUSG00000021189 AA Change: D225A
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: D221A
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124419 Gene: ENSMUSG00000021189 AA Change: D221A
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 |
unknown
Transcript: ENSMUST00000160186
AA Change: D2A
|
SMART Domains |
Protein: ENSMUSP00000124178 Gene: ENSMUSG00000021189 AA Change: D2A
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: D225A
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125082 Gene: ENSMUSG00000021189 AA Change: D225A
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 |
possibly damaging
Transcript: ENSMUST00000161011
AA Change: D225A
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125378 Gene: ENSMUSG00000021189 AA Change: D225A
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: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
Atxn2l |
T |
C |
7: 126,093,384 (GRCm39) |
Y785C |
probably damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,497,861 (GRCm39) |
L488P |
probably benign |
Het |
Mndal |
T |
A |
1: 173,687,788 (GRCm39) |
E482V |
probably benign |
Het |
Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
Ntsr1 |
G |
A |
2: 180,180,549 (GRCm39) |
S285N |
probably benign |
Het |
Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
P2rx4 |
A |
G |
5: 122,865,296 (GRCm39) |
E307G |
probably damaging |
Het |
Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
Tcf25 |
T |
C |
8: 124,108,212 (GRCm39) |
V89A |
probably benign |
Het |
Trim7 |
G |
T |
11: 48,740,532 (GRCm39) |
V210L |
probably damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
Zfp28 |
A |
G |
7: 6,392,779 (GRCm39) |
I152V |
possibly damaging |
Het |
Zfp628 |
A |
G |
7: 4,923,182 (GRCm39) |
H468R |
probably damaging |
Het |
Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTAAGGACGTGATCCACTTCTCCAAA -3'
(R):5'- TCAGCACTCAGTTGTTGTTAGTAGACCT -3'
Sequencing Primer
(F):5'- GTGATCCACTTCTCCAAAAATGAC -3'
(R):5'- cacccacctgctcgctc -3'
|
Posted On |
2014-01-29 |