Incidental Mutation 'R8476:Atn1'
| ID |
657260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atn1
|
| Ensembl Gene |
ENSMUSG00000004263 |
| Gene Name |
atrophin 1 |
| Synonyms |
atrophin-1, Atr1, Drpla |
| MMRRC Submission |
067920-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8476 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124719507-124733450 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 124723416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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: V606L
|
| SMART Domains |
Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: V606L
| 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: V606L
|
| SMART Domains |
Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: V606L
| 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 |
probably benign
Transcript: ENSMUST00000146872
|
| SMART Domains |
Protein: ENSMUSP00000123560
Gene: ENSMUSG00000004263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atrophin-1
|
1 |
182 |
2.6e-36 |
PFAM |
|
| Meta Mutation Damage Score |
0.1211 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,410,020 (GRCm39) |
I176F |
possibly damaging |
Het |
| Aen |
A |
G |
7: 78,556,947 (GRCm39) |
Y123C |
probably damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,747,100 (GRCm39) |
|
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,273,292 (GRCm39) |
D970E |
probably damaging |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Ccdc172 |
T |
A |
19: 58,541,270 (GRCm39) |
|
probably null |
Het |
| Ceacam11 |
T |
C |
7: 17,707,618 (GRCm39) |
I134T |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,263,235 (GRCm39) |
S73P |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,408,015 (GRCm39) |
I1939T |
probably benign |
Het |
| Dclk1 |
A |
T |
3: 55,441,100 (GRCm39) |
E432V |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,569,944 (GRCm39) |
R423Q |
probably damaging |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Kdm3a |
T |
C |
6: 71,588,693 (GRCm39) |
K439E |
probably damaging |
Het |
| Klhdc7a |
A |
C |
4: 139,693,051 (GRCm39) |
I632S |
probably damaging |
Het |
| Krt72 |
A |
T |
15: 101,686,701 (GRCm39) |
M415K |
probably damaging |
Het |
| Lax1 |
T |
A |
1: 133,611,326 (GRCm39) |
H82L |
probably benign |
Het |
| Morc2b |
T |
A |
17: 33,354,833 (GRCm39) |
T980S |
possibly damaging |
Het |
| Mta2 |
T |
A |
19: 8,928,352 (GRCm39) |
N550K |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,152 (GRCm39) |
F112L |
probably benign |
Het |
| Or6d13 |
T |
A |
6: 116,517,507 (GRCm39) |
I31N |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,361 (GRCm39) |
W680R |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,137 (GRCm39) |
N505I |
probably damaging |
Het |
| Pik3cd |
A |
T |
4: 149,736,277 (GRCm39) |
M984K |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,251,317 (GRCm39) |
Y520C |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,480,024 (GRCm39) |
S547G |
possibly damaging |
Het |
| Rabep2 |
C |
T |
7: 126,034,915 (GRCm39) |
R64* |
probably null |
Het |
| Rfxank |
T |
C |
8: 70,590,828 (GRCm39) |
N13S |
probably benign |
Het |
| Sall3 |
G |
T |
18: 81,015,333 (GRCm39) |
S865* |
probably null |
Het |
| Scaper |
T |
A |
9: 55,669,575 (GRCm39) |
D854V |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,520,596 (GRCm39) |
D578N |
possibly damaging |
Het |
| Smarcd1 |
G |
T |
15: 99,600,305 (GRCm39) |
G35W |
probably damaging |
Het |
| Trim24 |
C |
T |
6: 37,922,578 (GRCm39) |
Q462* |
probably null |
Het |
| Ube3a |
C |
T |
7: 58,954,575 (GRCm39) |
T837I |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,699,821 (GRCm39) |
I740M |
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 |
|
|
R5680:Atn1
|
UTSW |
6 |
124,724,778 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
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'- ACCTGGTTTGAAGGTCCCTG -3'
(R):5'- TGGCCAGGTGTCCTATAACCAAG -3'
Sequencing Primer
(F):5'- TTGAAGGTCCCTGGGCCTG -3'
(R):5'- AGGTGTCCTATAACCAAGCAGGTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation