Incidental Mutation 'IGL01408:Atxn10'
ID |
278419 |
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 # |
IGL01408
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
85220446-85347413 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 85260896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 214
(E214*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163242]
|
AlphaFold |
P28658 |
Predicted Effect |
probably null
Transcript: ENSMUST00000163242
AA Change: E214*
|
SMART Domains |
Protein: ENSMUSP00000132450 Gene: ENSMUSG00000016541 AA Change: E214*
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530068E07Rik |
A |
G |
11: 52,294,193 (GRCm39) |
R145G |
probably damaging |
Het |
Akr1c21 |
T |
A |
13: 4,627,431 (GRCm39) |
M175K |
probably benign |
Het |
Apol7a |
C |
T |
15: 77,273,530 (GRCm39) |
A311T |
probably damaging |
Het |
Bmp2k |
C |
T |
5: 97,234,823 (GRCm39) |
Q749* |
probably null |
Het |
Ccdc141 |
G |
A |
2: 76,876,023 (GRCm39) |
A669V |
probably benign |
Het |
Cndp2 |
A |
C |
18: 84,689,036 (GRCm39) |
C249G |
probably benign |
Het |
Cnr1 |
A |
G |
4: 33,944,802 (GRCm39) |
I397V |
possibly damaging |
Het |
Col19a1 |
T |
C |
1: 24,345,331 (GRCm39) |
|
probably benign |
Het |
Dbn1 |
T |
C |
13: 55,630,117 (GRCm39) |
|
probably benign |
Het |
Dmgdh |
C |
T |
13: 93,845,803 (GRCm39) |
P486S |
probably damaging |
Het |
Dpys |
A |
G |
15: 39,656,702 (GRCm39) |
V455A |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,546,702 (GRCm39) |
N907S |
probably benign |
Het |
Fndc3c1 |
C |
T |
X: 105,476,378 (GRCm39) |
E894K |
probably benign |
Het |
Gm6685 |
A |
T |
11: 28,289,473 (GRCm39) |
N114K |
probably damaging |
Het |
Golga3 |
A |
T |
5: 110,365,675 (GRCm39) |
|
probably null |
Het |
Grin2c |
A |
G |
11: 115,151,708 (GRCm39) |
L84P |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,675,009 (GRCm39) |
F1001L |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,767,169 (GRCm39) |
H910R |
unknown |
Het |
Kdm4b |
T |
C |
17: 56,660,518 (GRCm39) |
|
probably benign |
Het |
Lrrfip2 |
A |
G |
9: 111,043,284 (GRCm39) |
T497A |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,048,884 (GRCm39) |
Y924C |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 32,278,237 (GRCm39) |
T63S |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,742 (GRCm39) |
T503S |
probably benign |
Het |
Or52n3 |
T |
C |
7: 104,530,037 (GRCm39) |
V41A |
probably benign |
Het |
Or52n4 |
T |
A |
7: 104,294,136 (GRCm39) |
I146F |
possibly damaging |
Het |
Pitrm1 |
T |
A |
13: 6,623,078 (GRCm39) |
C780S |
probably damaging |
Het |
Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
C |
T |
2: 72,005,185 (GRCm39) |
R193* |
probably null |
Het |
Rbm20 |
A |
G |
19: 53,840,044 (GRCm39) |
E1011G |
possibly damaging |
Het |
Rfx3 |
A |
T |
19: 27,746,050 (GRCm39) |
D685E |
probably benign |
Het |
Ror1 |
T |
C |
4: 100,190,984 (GRCm39) |
S114P |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,318,863 (GRCm39) |
K502E |
probably benign |
Het |
Spink2 |
A |
T |
5: 77,359,174 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
T |
12: 76,659,921 (GRCm39) |
I993N |
possibly damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tes |
A |
T |
6: 17,099,878 (GRCm39) |
Y291F |
probably damaging |
Het |
Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,959,637 (GRCm39) |
E683G |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,521,455 (GRCm39) |
D171G |
probably benign |
Het |
Wbp11 |
A |
G |
6: 136,791,612 (GRCm39) |
|
probably benign |
Het |
Wfdc12 |
A |
G |
2: 164,031,581 (GRCm39) |
*86R |
probably null |
Het |
Zfp281 |
T |
C |
1: 136,553,853 (GRCm39) |
V277A |
probably 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 |
IGL01020:Atxn10
|
APN |
15 |
85,259,623 (GRCm39) |
splice site |
probably null |
|
IGL01380: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 |
2015-04-16 |