Incidental Mutation 'R1255:Atxn3'
ID |
151427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn3
|
Ensembl Gene |
ENSMUSG00000021189 |
Gene Name |
ataxin 3 |
Synonyms |
ataxin-3, Sca3, Mjd, MJD1, 2210008M02Rik, Atx3 |
MMRRC Submission |
039322-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1255 (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 A
at 101900593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 230
(Q230L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021606]
[ENSMUST00000159883]
[ENSMUST00000160251]
[ENSMUST00000161011]
|
AlphaFold |
Q9CVD2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021606
AA Change: Q230L
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000021606 Gene: ENSMUSG00000021189 AA Change: Q230L
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 |
possibly damaging
Transcript: ENSMUST00000159883
AA Change: Q226L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124419 Gene: ENSMUSG00000021189 AA Change: Q226L
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 damaging
Transcript: ENSMUST00000160186
AA Change: Q7L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124178 Gene: ENSMUSG00000021189 AA Change: Q7L
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 damaging
Transcript: ENSMUST00000160251
AA Change: Q230L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125082 Gene: ENSMUSG00000021189 AA Change: Q230L
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: Q230L
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000125378 Gene: ENSMUSG00000021189 AA Change: Q230L
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: 96.1%
- 20x: 91.9%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,807,016 (GRCm39) |
S21C |
probably damaging |
Het |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acsf3 |
T |
C |
8: 123,512,705 (GRCm39) |
|
probably null |
Het |
Aff3 |
A |
T |
1: 38,243,965 (GRCm39) |
|
probably null |
Het |
Antxr2 |
A |
T |
5: 98,123,231 (GRCm39) |
I272N |
probably benign |
Het |
Asphd2 |
A |
C |
5: 112,539,677 (GRCm39) |
V52G |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,581,132 (GRCm39) |
I9T |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Ciz1 |
T |
A |
2: 32,255,888 (GRCm39) |
|
probably null |
Het |
Dennd5b |
A |
T |
6: 148,943,148 (GRCm39) |
M576K |
possibly damaging |
Het |
Ebf3 |
C |
T |
7: 136,826,941 (GRCm39) |
V315I |
probably benign |
Het |
Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
Gimap1 |
T |
A |
6: 48,719,940 (GRCm39) |
V184E |
probably benign |
Het |
Gtf2f1 |
A |
G |
17: 57,317,982 (GRCm39) |
V18A |
probably damaging |
Het |
Kcnn3 |
A |
T |
3: 89,559,416 (GRCm39) |
D562V |
possibly damaging |
Het |
Kif20b |
A |
G |
19: 34,927,506 (GRCm39) |
T883A |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,556,151 (GRCm39) |
L1198Q |
probably damaging |
Het |
Nipal2 |
T |
C |
15: 34,584,828 (GRCm39) |
I247V |
probably benign |
Het |
Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
Rad51ap2 |
G |
T |
12: 11,508,095 (GRCm39) |
K672N |
possibly damaging |
Het |
Rbm28 |
C |
T |
6: 29,158,246 (GRCm39) |
G155D |
probably damaging |
Het |
Sema6a |
A |
T |
18: 47,382,366 (GRCm39) |
M701K |
probably damaging |
Het |
Slc47a1 |
A |
T |
11: 61,260,974 (GRCm39) |
L142Q |
probably damaging |
Het |
Snx25 |
A |
T |
8: 46,569,275 (GRCm39) |
N207K |
probably benign |
Het |
Son |
T |
A |
16: 91,461,583 (GRCm39) |
V205E |
probably damaging |
Het |
Spz1 |
C |
A |
13: 92,712,138 (GRCm39) |
V113F |
probably benign |
Het |
Tcn2 |
T |
C |
11: 3,872,120 (GRCm39) |
T336A |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,538,044 (GRCm39) |
D1852G |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Zfp729a |
T |
C |
13: 67,769,965 (GRCm39) |
E88G |
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 |
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'- AAACGTTAAGGACGTGATCCACTTCTC -3'
(R):5'- TCAGCACTCAGTTGTTGTTAGTAGACCT -3'
Sequencing Primer
(F):5'- GACGTGATCCACTTCTCCAAAAATG -3'
(R):5'- cacccacctgctcgctc -3'
|
Posted On |
2014-01-29 |