Incidental Mutation 'R5680:Atn1'
ID |
442976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atn1
|
Ensembl Gene |
ENSMUSG00000004263 |
Gene Name |
atrophin 1 |
Synonyms |
atrophin-1, Atr1, Drpla |
MMRRC Submission |
043177-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5680 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124719507-124733450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124724778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 152
(S152T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088357]
[ENSMUST00000129411]
[ENSMUST00000146872]
|
AlphaFold |
O35126 |
Predicted Effect |
unknown
Transcript: ENSMUST00000088357
AA Change: S152T
|
SMART Domains |
Protein: ENSMUSP00000085695 Gene: ENSMUSG00000004263 AA Change: S152T
Domain | Start | End | E-Value | Type |
Pfam:Atrophin-1
|
1 |
191 |
7.9e-30 |
PFAM |
low complexity region
|
209 |
218 |
N/A |
INTRINSIC |
low complexity region
|
231 |
253 |
N/A |
INTRINSIC |
low complexity region
|
256 |
297 |
N/A |
INTRINSIC |
low complexity region
|
301 |
317 |
N/A |
INTRINSIC |
low complexity region
|
351 |
372 |
N/A |
INTRINSIC |
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
Pfam:Atrophin-1
|
405 |
1174 |
4.6e-209 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000129411
AA Change: S152T
|
SMART Domains |
Protein: ENSMUSP00000115407 Gene: ENSMUSG00000107478 AA Change: S152T
Domain | Start | End | E-Value | Type |
Pfam:Atrophin-1
|
1 |
164 |
3.8e-33 |
PFAM |
low complexity region
|
209 |
218 |
N/A |
INTRINSIC |
low complexity region
|
231 |
253 |
N/A |
INTRINSIC |
low complexity region
|
256 |
297 |
N/A |
INTRINSIC |
low complexity region
|
301 |
317 |
N/A |
INTRINSIC |
Pfam:Atrophin-1
|
327 |
1175 |
1.7e-192 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133577
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146872
AA Change: S152T
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000123560 Gene: ENSMUSG00000004263 AA Change: S152T
Domain | Start | End | E-Value | Type |
Pfam:Atrophin-1
|
1 |
182 |
2.6e-36 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016] PHENOTYPE: Homozygous null mice are viable and fertile, however mice expressing a truncated protein lacking the poly-Q repeat and C-terminal peptides display growth retardation, progressive male infertility with small testis and low sperm counts, and consume less food. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
Abca6 |
A |
G |
11: 110,127,471 (GRCm39) |
F362S |
possibly damaging |
Het |
Adcy1 |
G |
A |
11: 7,059,020 (GRCm39) |
V309M |
probably damaging |
Het |
Agap2 |
A |
G |
10: 126,923,880 (GRCm39) |
K752E |
unknown |
Het |
Ahdc1 |
T |
A |
4: 132,792,907 (GRCm39) |
F1383I |
probably benign |
Het |
Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
Bcl11a |
G |
A |
11: 24,114,264 (GRCm39) |
V536M |
possibly damaging |
Het |
Cdc20 |
T |
C |
4: 118,290,264 (GRCm39) |
T466A |
probably damaging |
Het |
Cecr2 |
C |
G |
6: 120,738,387 (GRCm39) |
T1010R |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,814,879 (GRCm39) |
L1318* |
probably null |
Het |
Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,126,508 (GRCm39) |
V1273A |
probably damaging |
Het |
G3bp2 |
T |
C |
5: 92,216,219 (GRCm39) |
R106G |
probably damaging |
Het |
Ggt7 |
A |
T |
2: 155,348,353 (GRCm39) |
C100S |
probably damaging |
Het |
Grik4 |
A |
T |
9: 42,540,415 (GRCm39) |
M255K |
probably benign |
Het |
Kcnj11 |
A |
T |
7: 45,748,232 (GRCm39) |
S364T |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,799,444 (GRCm39) |
Y70* |
probably null |
Het |
Mark1 |
T |
C |
1: 184,677,013 (GRCm39) |
H79R |
probably damaging |
Het |
Mdfic2 |
T |
A |
6: 98,225,187 (GRCm39) |
Q32L |
probably damaging |
Het |
Myo9b |
T |
G |
8: 71,743,016 (GRCm39) |
S26A |
probably benign |
Het |
Pa2g4 |
G |
T |
10: 128,395,326 (GRCm39) |
N306K |
probably benign |
Het |
Pik3c3 |
T |
A |
18: 30,410,166 (GRCm39) |
Y133* |
probably null |
Het |
Prpf6 |
G |
T |
2: 181,290,933 (GRCm39) |
A675S |
probably damaging |
Het |
Psca |
A |
G |
15: 74,587,948 (GRCm39) |
D44G |
probably benign |
Het |
Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,453,202 (GRCm39) |
L1231P |
probably damaging |
Het |
Sirpa |
T |
C |
2: 129,458,172 (GRCm39) |
S157P |
probably benign |
Het |
Slc27a2 |
A |
T |
2: 126,403,530 (GRCm39) |
R184S |
probably benign |
Het |
Tagln2 |
T |
C |
1: 172,333,479 (GRCm39) |
F111S |
probably damaging |
Het |
Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,481,887 (GRCm39) |
D696G |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,790,470 (GRCm39) |
|
probably null |
Het |
Togaram2 |
G |
A |
17: 71,996,204 (GRCm39) |
R68K |
probably benign |
Het |
Trim40 |
A |
T |
17: 37,199,874 (GRCm39) |
I68N |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,946,078 (GRCm39) |
M1018V |
probably benign |
Het |
Unc13c |
A |
T |
9: 73,839,884 (GRCm39) |
N322K |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,820,779 (GRCm39) |
T52S |
probably benign |
Het |
Vmn2r90 |
T |
G |
17: 17,947,034 (GRCm39) |
V437G |
possibly damaging |
Het |
Vps16 |
C |
A |
2: 130,282,244 (GRCm39) |
H389N |
possibly damaging |
Het |
|
Other mutations in Atn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01295:Atn1
|
APN |
6 |
124,726,239 (GRCm39) |
missense |
probably damaging |
0.96 |
Janvier
|
UTSW |
6 |
124,721,919 (GRCm39) |
unclassified |
probably benign |
|
stunt
|
UTSW |
6 |
124,722,601 (GRCm39) |
critical splice donor site |
probably null |
|
R0122:Atn1
|
UTSW |
6 |
124,720,197 (GRCm39) |
unclassified |
probably benign |
|
R0227:Atn1
|
UTSW |
6 |
124,723,893 (GRCm39) |
unclassified |
probably benign |
|
R0385:Atn1
|
UTSW |
6 |
124,720,334 (GRCm39) |
unclassified |
probably benign |
|
R0394:Atn1
|
UTSW |
6 |
124,726,696 (GRCm39) |
splice site |
probably benign |
|
R0834:Atn1
|
UTSW |
6 |
124,720,188 (GRCm39) |
unclassified |
probably benign |
|
R1295:Atn1
|
UTSW |
6 |
124,724,750 (GRCm39) |
missense |
unknown |
|
R1296:Atn1
|
UTSW |
6 |
124,724,750 (GRCm39) |
missense |
unknown |
|
R1865:Atn1
|
UTSW |
6 |
124,722,259 (GRCm39) |
unclassified |
probably benign |
|
R1992:Atn1
|
UTSW |
6 |
124,722,291 (GRCm39) |
unclassified |
probably benign |
|
R2268:Atn1
|
UTSW |
6 |
124,723,203 (GRCm39) |
unclassified |
probably benign |
|
R3826:Atn1
|
UTSW |
6 |
124,723,182 (GRCm39) |
unclassified |
probably benign |
|
R4903:Atn1
|
UTSW |
6 |
124,720,220 (GRCm39) |
unclassified |
probably benign |
|
R5601:Atn1
|
UTSW |
6 |
124,720,191 (GRCm39) |
critical splice donor site |
probably null |
|
R6167:Atn1
|
UTSW |
6 |
124,723,700 (GRCm39) |
unclassified |
probably benign |
|
R6314:Atn1
|
UTSW |
6 |
124,724,013 (GRCm39) |
unclassified |
probably benign |
|
R6427:Atn1
|
UTSW |
6 |
124,723,139 (GRCm39) |
unclassified |
probably benign |
|
R6538:Atn1
|
UTSW |
6 |
124,723,512 (GRCm39) |
unclassified |
probably benign |
|
R6606:Atn1
|
UTSW |
6 |
124,721,919 (GRCm39) |
unclassified |
probably benign |
|
R7240:Atn1
|
UTSW |
6 |
124,724,861 (GRCm39) |
missense |
unknown |
|
R8090:Atn1
|
UTSW |
6 |
124,722,304 (GRCm39) |
missense |
unknown |
|
R8476:Atn1
|
UTSW |
6 |
124,723,416 (GRCm39) |
unclassified |
probably benign |
|
R8770:Atn1
|
UTSW |
6 |
124,722,601 (GRCm39) |
critical splice donor site |
probably null |
|
R8924:Atn1
|
UTSW |
6 |
124,722,211 (GRCm39) |
missense |
probably benign |
0.39 |
R8984:Atn1
|
UTSW |
6 |
124,723,923 (GRCm39) |
missense |
unknown |
|
R9018:Atn1
|
UTSW |
6 |
124,722,661 (GRCm39) |
missense |
unknown |
|
R9485:Atn1
|
UTSW |
6 |
124,722,748 (GRCm39) |
missense |
unknown |
|
Z1177:Atn1
|
UTSW |
6 |
124,721,998 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTCCCAGGGTAGAGCTGTG -3'
(R):5'- AATCCAGCCATTTTCCCTGACAG -3'
Sequencing Primer
(F):5'- AGGAGCTCCAGGTGGTG -3'
(R):5'- GCAGGAGCTCCCTCGCC -3'
|
Posted On |
2016-11-09 |