Incidental Mutation 'R7859:Atxn10'
ID |
607386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn10
|
Ensembl Gene |
ENSMUSG00000016541 |
Gene Name |
ataxin 10 |
Synonyms |
Sca10, TEG-169, Tex169, E46 |
MMRRC Submission |
045912-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7859 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
85220446-85347413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85346526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 428
(D428G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163242]
|
AlphaFold |
P28658 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000163242
AA Change: D428G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000132450 Gene: ENSMUSG00000016541 AA Change: D428G
Domain | Start | End | E-Value | Type |
Pfam:Atx10homo_assoc
|
370 |
467 |
4.7e-38 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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 |
Abca3 |
T |
C |
17: 24,603,500 (GRCm39) |
L564P |
probably damaging |
Het |
Arsb |
T |
A |
13: 93,998,615 (GRCm39) |
S308T |
probably benign |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Cd300a |
T |
C |
11: 114,784,165 (GRCm39) |
Y58H |
probably benign |
Het |
Cemip2 |
T |
A |
19: 21,809,539 (GRCm39) |
I973N |
possibly damaging |
Het |
Crkl |
T |
A |
16: 17,286,960 (GRCm39) |
M172K |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,549,774 (GRCm39) |
I647T |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 70,823,683 (GRCm39) |
T223A |
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,178,044 (GRCm39) |
S372G |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,160,934 (GRCm39) |
V1814M |
probably damaging |
Het |
Dusp22 |
A |
C |
13: 30,892,737 (GRCm39) |
K171N |
probably benign |
Het |
Evi2a |
T |
C |
11: 79,418,452 (GRCm39) |
S53G |
probably benign |
Het |
Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
Kndc1 |
A |
T |
7: 139,500,880 (GRCm39) |
D723V |
possibly damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Mcur1 |
G |
A |
13: 43,713,485 (GRCm39) |
R40* |
probably null |
Het |
Mgam |
T |
A |
6: 40,717,113 (GRCm39) |
N265K |
possibly damaging |
Het |
Muc6 |
G |
A |
7: 141,231,687 (GRCm39) |
T1069I |
probably damaging |
Het |
Myh2 |
T |
C |
11: 67,077,526 (GRCm39) |
L887P |
probably damaging |
Het |
Myo1d |
T |
G |
11: 80,575,203 (GRCm39) |
D171A |
probably damaging |
Het |
Nat2 |
T |
A |
8: 67,954,002 (GRCm39) |
F37L |
probably damaging |
Het |
Nkx2-2 |
A |
G |
2: 147,019,730 (GRCm39) |
C236R |
unknown |
Het |
Nrl |
G |
A |
14: 55,759,582 (GRCm39) |
S115L |
probably benign |
Het |
Nrsn1 |
A |
C |
13: 25,446,254 (GRCm39) |
S41A |
probably damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,346 (GRCm39) |
E109V |
probably damaging |
Het |
Pax8 |
T |
A |
2: 24,311,567 (GRCm39) |
H456L |
possibly damaging |
Het |
Pkd1 |
T |
A |
17: 24,790,254 (GRCm39) |
I979K |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,150,274 (GRCm39) |
N149D |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,160,149 (GRCm39) |
V349D |
probably damaging |
Het |
Ptpro |
G |
A |
6: 137,369,805 (GRCm39) |
|
probably null |
Het |
Sema4d |
T |
A |
13: 51,876,387 (GRCm39) |
K94N |
probably benign |
Het |
Slc22a22 |
A |
T |
15: 57,114,348 (GRCm39) |
D326E |
probably benign |
Het |
Slc25a29 |
G |
A |
12: 108,792,756 (GRCm39) |
T274I |
probably benign |
Het |
Slc43a1 |
T |
C |
2: 84,687,220 (GRCm39) |
F374L |
possibly damaging |
Het |
Syne1 |
G |
T |
10: 5,107,683 (GRCm39) |
Q520K |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,837,032 (GRCm39) |
V214A |
probably benign |
Het |
Tex22 |
T |
A |
12: 113,052,103 (GRCm39) |
C54S |
possibly damaging |
Het |
Tpo |
T |
A |
12: 30,150,573 (GRCm39) |
I436F |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,743,415 (GRCm39) |
H507R |
possibly damaging |
Het |
Usp54 |
T |
C |
14: 20,638,204 (GRCm39) |
E255G |
probably benign |
Het |
Vmn2r109 |
G |
T |
17: 20,761,436 (GRCm39) |
F640L |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,282,212 (GRCm39) |
Y80C |
probably damaging |
Het |
Vmn2r27 |
A |
T |
6: 124,201,201 (GRCm39) |
I252K |
probably benign |
Het |
Zfp457 |
A |
G |
13: 67,454,445 (GRCm39) |
|
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATGGGTTTCTCATTGAGTGC -3'
(R):5'- TCCAAGTCACAGAGATGCAGG -3'
Sequencing Primer
(F):5'- CTCATTGAGTGCATATGTATTCTCC -3'
(R):5'- GCAGCTTTCTGGGAGGGAC -3'
|
Posted On |
2019-12-20 |