Incidental Mutation 'IGL01020:Atxn10'
| ID |
54007 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atxn10
|
| Ensembl Gene |
ENSMUSG00000016541 |
| Gene Name |
ataxin 10 |
| Synonyms |
Sca10, TEG-169, Tex169, E46 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01020
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
85220446-85347413 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 85259623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163242]
|
| AlphaFold |
P28658 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000163242
|
| SMART Domains |
Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atx10homo_assoc
|
370 |
467 |
4.7e-38 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die at early postimplantation stages. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(20) : Gene trapped(20) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
T |
G |
1: 176,958,533 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,557,625 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,657 (GRCm39) |
H880R |
probably benign |
Het |
| Arhgef7 |
G |
A |
8: 11,832,540 (GRCm39) |
S5N |
probably damaging |
Het |
| Atp6v1e1 |
T |
C |
6: 120,785,372 (GRCm39) |
M40V |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,744,836 (GRCm39) |
V51A |
probably damaging |
Het |
| Btbd16 |
T |
A |
7: 130,426,091 (GRCm39) |
I502N |
probably damaging |
Het |
| Celsr2 |
G |
T |
3: 108,310,586 (GRCm39) |
L1499M |
probably damaging |
Het |
| Cfl1 |
C |
T |
19: 5,543,709 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,849,949 (GRCm39) |
E500G |
probably damaging |
Het |
| Dusp3 |
G |
T |
11: 101,875,470 (GRCm39) |
N31K |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,337,608 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
G |
A |
6: 135,188,904 (GRCm39) |
V170M |
probably benign |
Het |
| Fign |
A |
G |
2: 63,809,354 (GRCm39) |
S639P |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,248,618 (GRCm39) |
T294A |
probably benign |
Het |
| Golm2 |
G |
A |
2: 121,756,203 (GRCm39) |
V411I |
probably benign |
Het |
| Ift80 |
C |
T |
3: 68,871,012 (GRCm39) |
D195N |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,081,832 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
A |
T |
4: 117,024,101 (GRCm39) |
F397I |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,804,668 (GRCm39) |
V567A |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,369,640 (GRCm39) |
M36T |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,888,259 (GRCm39) |
W2220R |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,914,283 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,973 (GRCm39) |
D691G |
possibly damaging |
Het |
| Myh8 |
G |
A |
11: 67,174,229 (GRCm39) |
V189M |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,804,644 (GRCm39) |
R1418K |
probably benign |
Het |
| Nkpd1 |
G |
A |
7: 19,252,674 (GRCm39) |
V7M |
possibly damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,543,473 (GRCm39) |
V1116I |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,105,905 (GRCm39) |
M875V |
probably benign |
Het |
| Oat |
T |
C |
7: 132,168,902 (GRCm39) |
|
probably null |
Het |
| Or7g35 |
G |
A |
9: 19,496,616 (GRCm39) |
S261N |
possibly damaging |
Het |
| Or8g24 |
A |
C |
9: 38,989,747 (GRCm39) |
I98R |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,932,659 (GRCm39) |
R63Q |
probably damaging |
Het |
| Psg29 |
T |
A |
7: 16,942,657 (GRCm39) |
S219R |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,047,911 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
G |
T |
7: 138,834,771 (GRCm39) |
E71* |
probably null |
Het |
| Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,974,845 (GRCm39) |
N103Y |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,874,171 (GRCm39) |
E10G |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,432,903 (GRCm39) |
Q438* |
probably null |
Het |
| Thnsl1 |
T |
C |
2: 21,217,305 (GRCm39) |
L353S |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,146,612 (GRCm39) |
|
probably null |
Het |
| Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,702 (GRCm39) |
I108T |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,967 (GRCm39) |
N190S |
possibly damaging |
Het |
|
| Other mutations in Atxn10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00975:Atxn10
|
APN |
15 |
85,220,666 (GRCm39) |
start codon destroyed |
probably benign |
0.33 |
|
IGL01380:Atxn10
|
APN |
15 |
85,260,896 (GRCm39) |
nonsense |
probably null |
|
|
IGL01408:Atxn10
|
APN |
15 |
85,260,896 (GRCm39) |
nonsense |
probably null |
|
|
3-1:Atxn10
|
UTSW |
15 |
85,322,295 (GRCm39) |
splice site |
probably benign |
|
|
R0190:Atxn10
|
UTSW |
15 |
85,220,730 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0319:Atxn10
|
UTSW |
15 |
85,249,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Atxn10
|
UTSW |
15 |
85,243,675 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1746:Atxn10
|
UTSW |
15 |
85,260,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Atxn10
|
UTSW |
15 |
85,249,513 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3055:Atxn10
|
UTSW |
15 |
85,271,206 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4559:Atxn10
|
UTSW |
15 |
85,322,321 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4786:Atxn10
|
UTSW |
15 |
85,271,344 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4799:Atxn10
|
UTSW |
15 |
85,260,909 (GRCm39) |
splice site |
probably null |
|
|
R4831:Atxn10
|
UTSW |
15 |
85,271,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5323:Atxn10
|
UTSW |
15 |
85,275,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5335:Atxn10
|
UTSW |
15 |
85,220,785 (GRCm39) |
splice site |
probably null |
|
|
R5355:Atxn10
|
UTSW |
15 |
85,346,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Atxn10
|
UTSW |
15 |
85,277,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6260:Atxn10
|
UTSW |
15 |
85,346,612 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6277:Atxn10
|
UTSW |
15 |
85,275,893 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6370:Atxn10
|
UTSW |
15 |
85,277,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Atxn10
|
UTSW |
15 |
85,260,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6957:Atxn10
|
UTSW |
15 |
85,220,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Atxn10
|
UTSW |
15 |
85,346,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8031:Atxn10
|
UTSW |
15 |
85,277,594 (GRCm39) |
missense |
probably benign |
|
|
R9062:Atxn10
|
UTSW |
15 |
85,275,918 (GRCm39) |
missense |
probably benign |
|
|
R9171:Atxn10
|
UTSW |
15 |
85,277,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Atxn10
|
UTSW |
15 |
85,243,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9429:Atxn10
|
UTSW |
15 |
85,346,565 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2013-06-28 |
Incidental Mutation