Incidental Mutation 'IGL01393:Atxn3'
| ID |
79278 |
| 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 # |
IGL01393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
101885160-101924505 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 101899306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 263
(C263*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021606]
[ENSMUST00000159883]
[ENSMUST00000160251]
[ENSMUST00000161011]
|
| AlphaFold |
Q9CVD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021606
AA Change: C265S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189
AA Change: C265S
| 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: C261S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124419
Gene: ENSMUSG00000021189
AA Change: C261S
| 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: C42S
|
| SMART Domains |
Protein: ENSMUSP00000124178
Gene: ENSMUSG00000021189
AA Change: C42S
| 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 null
Transcript: ENSMUST00000160251
AA Change: C263*
|
| SMART Domains |
Protein: ENSMUSP00000125082
Gene: ENSMUSG00000021189
AA Change: C263*
| 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: C265S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125378
Gene: ENSMUSG00000021189
AA Change: C265S
| 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 |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
A |
14: 35,818,379 (GRCm39) |
V126I |
possibly damaging |
Het |
| A630073D07Rik |
G |
T |
6: 132,603,577 (GRCm39) |
Q60K |
unknown |
Het |
| Alpk2 |
A |
G |
18: 65,440,779 (GRCm39) |
S205P |
possibly damaging |
Het |
| Ang4 |
T |
A |
14: 52,001,670 (GRCm39) |
I93L |
probably benign |
Het |
| Arpin |
A |
G |
7: 79,581,588 (GRCm39) |
V44A |
possibly damaging |
Het |
| Cd209f |
T |
C |
8: 4,153,154 (GRCm39) |
N260S |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,861,969 (GRCm39) |
R50G |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,006,818 (GRCm39) |
S1060P |
unknown |
Het |
| Csmd3 |
C |
T |
15: 48,320,995 (GRCm39) |
V272I |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,206,706 (GRCm39) |
Y1136F |
possibly damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,026 (GRCm39) |
Y420C |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,554,321 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,160,135 (GRCm39) |
D3326G |
probably benign |
Het |
| Filip1l |
A |
G |
16: 57,392,586 (GRCm39) |
N820S |
probably damaging |
Het |
| Gm26566 |
G |
A |
4: 88,640,581 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
A |
G |
10: 94,134,304 (GRCm39) |
L22P |
unknown |
Het |
| Gpat2 |
A |
G |
2: 127,274,571 (GRCm39) |
E386G |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,639,856 (GRCm39) |
D63G |
probably benign |
Het |
| Hdc |
A |
G |
2: 126,436,581 (GRCm39) |
V430A |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,393,492 (GRCm39) |
|
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,687,865 (GRCm39) |
D215G |
probably damaging |
Het |
| Kctd3 |
T |
C |
1: 188,732,487 (GRCm39) |
I74V |
probably benign |
Het |
| Kctd5 |
A |
T |
17: 24,278,292 (GRCm39) |
|
probably null |
Het |
| Lrsam1 |
A |
T |
2: 32,845,185 (GRCm39) |
|
probably benign |
Het |
| Mblac1 |
A |
G |
5: 138,193,036 (GRCm39) |
N126S |
possibly damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,937,692 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
A |
T |
11: 101,916,304 (GRCm39) |
L16Q |
probably damaging |
Het |
| Mrgprb1 |
C |
A |
7: 48,097,754 (GRCm39) |
A53S |
possibly damaging |
Het |
| Nbea |
C |
A |
3: 55,912,729 (GRCm39) |
M1019I |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,103,599 (GRCm39) |
K22R |
probably null |
Het |
| Or1j4 |
G |
A |
2: 36,740,553 (GRCm39) |
R165Q |
probably benign |
Het |
| Or2ag18 |
C |
T |
7: 106,405,642 (GRCm39) |
G9E |
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,475,601 (GRCm39) |
V247A |
probably damaging |
Het |
| Pard6b |
T |
A |
2: 167,929,298 (GRCm39) |
S35T |
probably benign |
Het |
| Peli1 |
T |
C |
11: 21,097,400 (GRCm39) |
V215A |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,178,269 (GRCm39) |
D1003V |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,744,630 (GRCm39) |
R625* |
probably null |
Het |
| Ppp1r16a |
T |
C |
15: 76,578,744 (GRCm39) |
S483P |
probably benign |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Prrg3 |
T |
C |
X: 71,011,123 (GRCm39) |
V210A |
probably benign |
Het |
| Rev1 |
A |
G |
1: 38,131,144 (GRCm39) |
V168A |
probably damaging |
Het |
| Sez6l |
G |
T |
5: 112,586,261 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,934,926 (GRCm39) |
T711A |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,186,993 (GRCm39) |
I163M |
probably benign |
Het |
| Tex13c1 |
C |
T |
X: 42,680,233 (GRCm39) |
A66V |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 127,861,702 (GRCm39) |
S806R |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,932,291 (GRCm39) |
|
probably benign |
Het |
| Tpbg |
T |
A |
9: 85,726,145 (GRCm39) |
V38E |
unknown |
Het |
| Unc13c |
T |
A |
9: 73,447,552 (GRCm39) |
I1883F |
probably benign |
Het |
| Vmn2r61 |
A |
C |
7: 41,916,258 (GRCm39) |
Q290H |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,180,719 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,442,288 (GRCm39) |
V294A |
possibly damaging |
Het |
| Zfp821 |
T |
A |
8: 110,436,110 (GRCm39) |
|
probably benign |
Het |
| Zfp941 |
C |
T |
7: 140,391,841 (GRCm39) |
G506E |
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation