Incidental Mutation 'R3055:Atxn10'
| ID |
265151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn10
|
| Ensembl Gene |
ENSMUSG00000016541 |
| Gene Name |
ataxin 10 |
| Synonyms |
TEG-169, Sca10, E46, Tex169 |
| MMRRC Submission |
040564-MU
|
| Accession Numbers |
Genbank: NM_016843: MGI: 1859293 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
85336245-85463212 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85387005 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 248
(D248G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163242]
|
| AlphaFold |
P28658 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163242
AA Change: D248G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: D248G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atx10homo_assoc
|
370 |
467 |
4.7e-38 |
PFAM |
|
| Meta Mutation Damage Score |
0.4517 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
A |
G |
14: 4,348,878 (GRCm38) |
E13G |
probably damaging |
Het |
| 5730596B20Rik |
A |
T |
6: 52,179,128 (GRCm38) |
|
probably benign |
Het |
| A230050P20Rik |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,873,717 (GRCm38) |
|
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,435,851 (GRCm38) |
M287V |
probably benign |
Het |
| Abca7 |
G |
A |
10: 79,999,747 (GRCm38) |
R283H |
probably damaging |
Het |
| Acad11 |
A |
G |
9: 104,076,336 (GRCm38) |
I126V |
probably damaging |
Het |
| Ahrr |
A |
G |
13: 74,224,887 (GRCm38) |
V148A |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,502,472 (GRCm38) |
K528E |
probably benign |
Het |
| Atp6v0a2 |
T |
A |
5: 124,627,144 (GRCm38) |
|
probably benign |
Het |
| Bard1 |
A |
G |
1: 71,088,231 (GRCm38) |
V73A |
possibly damaging |
Het |
| Catsper3 |
T |
C |
13: 55,808,896 (GRCm38) |
S376P |
unknown |
Het |
| Ccdc150 |
A |
G |
1: 54,288,842 (GRCm38) |
N361S |
possibly damaging |
Het |
| Cxcr6 |
A |
T |
9: 123,810,464 (GRCm38) |
I177F |
probably damaging |
Het |
| D330045A20Rik |
T |
A |
X: 139,511,557 (GRCm38) |
V439E |
possibly damaging |
Het |
| Ddx25 |
A |
G |
9: 35,551,351 (GRCm38) |
V246A |
probably damaging |
Het |
| Drd4 |
T |
C |
7: 141,294,479 (GRCm38) |
V319A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,801,355 (GRCm38) |
T629I |
probably damaging |
Het |
| Evi5l |
C |
T |
8: 4,191,603 (GRCm38) |
R311* |
probably null |
Het |
| Fxr1 |
A |
G |
3: 34,049,184 (GRCm38) |
E221G |
probably damaging |
Het |
| Gldn |
A |
T |
9: 54,338,523 (GRCm38) |
T453S |
probably damaging |
Het |
| Gm436 |
A |
G |
4: 144,674,698 (GRCm38) |
I72T |
probably benign |
Het |
| Ighm |
T |
A |
12: 113,418,976 (GRCm38) |
|
probably benign |
Het |
| Ints12 |
G |
A |
3: 133,109,365 (GRCm38) |
M444I |
possibly damaging |
Het |
| Lgr5 |
T |
A |
10: 115,466,123 (GRCm38) |
|
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,691,303 (GRCm38) |
D7E |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,950,088 (GRCm38) |
|
probably benign |
Het |
| Mrpl20 |
G |
T |
4: 155,803,872 (GRCm38) |
V43F |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,864,041 (GRCm38) |
V3575F |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,221,878 (GRCm38) |
Y950C |
probably benign |
Het |
| Olfr1094 |
T |
C |
2: 86,829,127 (GRCm38) |
F125S |
possibly damaging |
Het |
| Olfr463 |
A |
G |
11: 87,893,372 (GRCm38) |
V184A |
possibly damaging |
Het |
| Olfr875 |
G |
T |
9: 37,773,193 (GRCm38) |
C178F |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,068,315 (GRCm38) |
|
probably null |
Het |
| Prune2 |
A |
G |
19: 17,125,043 (GRCm38) |
E2522G |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,495,406 (GRCm38) |
T549A |
possibly damaging |
Het |
| Rasa2 |
G |
A |
9: 96,611,473 (GRCm38) |
L53F |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,029,075 (GRCm38) |
F306L |
probably damaging |
Het |
| Rbm19 |
C |
T |
5: 120,133,010 (GRCm38) |
R633C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,225,948 (GRCm38) |
V971A |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,132,507 (GRCm38) |
L353H |
probably damaging |
Het |
| Stil |
T |
A |
4: 115,014,069 (GRCm38) |
|
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,280,507 (GRCm38) |
K251R |
probably benign |
Het |
| Ugt2b35 |
A |
T |
5: 87,001,598 (GRCm38) |
Y236F |
probably benign |
Het |
| Utp14b |
T |
A |
1: 78,664,725 (GRCm38) |
D113E |
possibly damaging |
Het |
| Vmn1r121 |
G |
A |
7: 21,098,465 (GRCm38) |
Q17* |
probably null |
Het |
| Vmn2r28 |
A |
T |
7: 5,481,392 (GRCm38) |
L603Q |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,646,361 (GRCm38) |
E1537G |
probably damaging |
Het |
| Xrcc4 |
T |
C |
13: 90,062,077 (GRCm38) |
T83A |
probably benign |
Het |
| Yae1d1 |
T |
C |
13: 17,993,242 (GRCm38) |
E22G |
probably damaging |
Het |
|
| Other mutations in Atxn10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00975:Atxn10
|
APN |
15 |
85,336,465 (GRCm38) |
start codon destroyed |
probably benign |
0.33 |
|
IGL01020:Atxn10
|
APN |
15 |
85,375,422 (GRCm38) |
splice site |
probably null |
|
|
IGL01380:Atxn10
|
APN |
15 |
85,376,695 (GRCm38) |
nonsense |
probably null |
|
|
IGL01408:Atxn10
|
APN |
15 |
85,376,695 (GRCm38) |
nonsense |
probably null |
|
|
3-1:Atxn10
|
UTSW |
15 |
85,438,094 (GRCm38) |
splice site |
probably benign |
|
|
R0190:Atxn10
|
UTSW |
15 |
85,336,529 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R0319:Atxn10
|
UTSW |
15 |
85,365,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1437:Atxn10
|
UTSW |
15 |
85,359,474 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1746:Atxn10
|
UTSW |
15 |
85,376,663 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2050:Atxn10
|
UTSW |
15 |
85,365,312 (GRCm38) |
missense |
probably benign |
0.37 |
|
R4559:Atxn10
|
UTSW |
15 |
85,438,120 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4786:Atxn10
|
UTSW |
15 |
85,387,143 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4799:Atxn10
|
UTSW |
15 |
85,376,708 (GRCm38) |
splice site |
probably null |
|
|
R4831:Atxn10
|
UTSW |
15 |
85,387,059 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5323:Atxn10
|
UTSW |
15 |
85,391,743 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5335:Atxn10
|
UTSW |
15 |
85,336,584 (GRCm38) |
splice site |
probably null |
|
|
R5355:Atxn10
|
UTSW |
15 |
85,462,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5768:Atxn10
|
UTSW |
15 |
85,393,420 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6260:Atxn10
|
UTSW |
15 |
85,462,411 (GRCm38) |
missense |
probably benign |
0.38 |
|
R6277:Atxn10
|
UTSW |
15 |
85,391,692 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6370:Atxn10
|
UTSW |
15 |
85,393,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6645:Atxn10
|
UTSW |
15 |
85,376,703 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6957:Atxn10
|
UTSW |
15 |
85,336,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7859:Atxn10
|
UTSW |
15 |
85,462,325 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8031:Atxn10
|
UTSW |
15 |
85,393,393 (GRCm38) |
missense |
probably benign |
|
|
R9062:Atxn10
|
UTSW |
15 |
85,391,717 (GRCm38) |
missense |
probably benign |
|
|
R9171:Atxn10
|
UTSW |
15 |
85,393,356 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9201:Atxn10
|
UTSW |
15 |
85,359,486 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9429:Atxn10
|
UTSW |
15 |
85,462,364 (GRCm38) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGGATCAGTGTCAAATAGTG -3'
(R):5'- GCCCAGATCTGTGTCCTTAC -3'
Sequencing Primer
(F):5'- GATGGATATGAAAAAGTTCTTGCTGC -3'
(R):5'- CTTACCTTATCCTCGGTGTGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation