Incidental Mutation 'IGL00801:Atxn3'
ID |
9160 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00801
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
101885160-101924505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101892767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 316
(S316P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021606]
|
AlphaFold |
Q9CVD2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021606
AA Change: S316P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021606 Gene: ENSMUSG00000021189 AA Change: S316P
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: 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 |
|
Coding Region Coverage |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
T |
C |
12: 72,928,160 (GRCm39) |
T524A |
possibly damaging |
Het |
Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
Arhgef37 |
A |
G |
18: 61,632,905 (GRCm39) |
Y511H |
probably damaging |
Het |
B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
Ccn1 |
T |
A |
3: 145,354,365 (GRCm39) |
D182V |
probably damaging |
Het |
Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
Gabra5 |
C |
A |
7: 57,138,736 (GRCm39) |
W104L |
probably damaging |
Het |
Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
Hnf1b |
C |
T |
11: 83,746,750 (GRCm39) |
A122V |
probably damaging |
Het |
Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
Nudt5 |
T |
C |
2: 5,871,168 (GRCm39) |
F166S |
probably damaging |
Het |
Ociad1 |
T |
A |
5: 73,461,909 (GRCm39) |
Y87N |
probably damaging |
Het |
Qtrt2 |
T |
C |
16: 43,701,552 (GRCm39) |
K3E |
probably damaging |
Het |
Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
Tmem198b |
A |
C |
10: 128,639,014 (GRCm39) |
L43R |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
Other mutations in Atxn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2012-12-06 |