Incidental Mutation 'R6606:Atn1'
| ID |
525679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atn1
|
| Ensembl Gene |
ENSMUSG00000004263 |
| Gene Name |
atrophin 1 |
| Synonyms |
atrophin-1, Atr1, Drpla |
| MMRRC Submission |
044729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124719507-124733450 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 124721919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004389]
[ENSMUST00000088357]
[ENSMUST00000129411]
[ENSMUST00000146872]
|
| AlphaFold |
O35126 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004389
|
| SMART Domains |
Protein: ENSMUSP00000004389
Gene: ENSMUSG00000072772
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4511
|
11 |
113 |
5e-43 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000088357
AA Change: P978L
|
| SMART Domains |
Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: P978L
| 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: P978L
|
| SMART Domains |
Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: P978L
| 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: ENSMUST00000129823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133577
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158458
|
| 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 |
0.3969 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,980,769 (GRCm39) |
E21G |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,646 (GRCm39) |
Y511C |
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,730,978 (GRCm39) |
S618R |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,876,010 (GRCm39) |
N517S |
possibly damaging |
Het |
| Chd4 |
C |
A |
6: 125,086,389 (GRCm39) |
T963K |
probably damaging |
Het |
| Crlf1 |
A |
G |
8: 70,953,824 (GRCm39) |
Y310C |
probably damaging |
Het |
| Cyyr1 |
A |
G |
16: 85,254,438 (GRCm39) |
Y155H |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,660,179 (GRCm39) |
I831N |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,189,711 (GRCm39) |
I17V |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,560,931 (GRCm39) |
V28F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,523,921 (GRCm39) |
I651T |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,719,296 (GRCm39) |
Q31R |
possibly damaging |
Het |
| Fbxl17 |
A |
G |
17: 63,794,783 (GRCm39) |
V433A |
probably damaging |
Het |
| Gm20449 |
T |
C |
7: 41,108,253 (GRCm39) |
E39G |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,296 (GRCm39) |
P191L |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,360,658 (GRCm39) |
T731A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,062,829 (GRCm39) |
D371G |
possibly damaging |
Het |
| Or10n1 |
G |
A |
9: 39,525,378 (GRCm39) |
V172M |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,954,851 (GRCm39) |
C303F |
probably damaging |
Het |
| Parp10 |
C |
A |
15: 76,124,308 (GRCm39) |
V782L |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,041,763 (GRCm39) |
S501P |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,265,104 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
C |
6: 23,002,500 (GRCm39) |
H1530P |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,132,801 (GRCm39) |
K18E |
probably damaging |
Het |
| Rit1 |
A |
G |
3: 88,624,945 (GRCm39) |
E48G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rspo3 |
C |
T |
10: 29,330,277 (GRCm39) |
R228K |
unknown |
Het |
| Scai |
A |
T |
2: 38,965,147 (GRCm39) |
S566T |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,218,899 (GRCm39) |
E973G |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,826,046 (GRCm39) |
F246I |
possibly damaging |
Het |
| Stfa3 |
T |
C |
16: 36,275,647 (GRCm39) |
D27G |
possibly damaging |
Het |
| Uba5 |
T |
C |
9: 103,932,420 (GRCm39) |
D181G |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,607,156 (GRCm39) |
T25A |
probably benign |
Het |
| Zbtb43 |
G |
T |
2: 33,345,066 (GRCm39) |
S16Y |
probably damaging |
Het |
| Zyg11b |
G |
A |
4: 108,093,286 (GRCm39) |
A717V |
probably benign |
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 |
|
|
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'- TTACCTGCGTGGATAGCATC -3'
(R):5'- GTTACAATGTCCCAGCCCTGTAC -3'
Sequencing Primer
(F):5'- CTGGTGCAGGTGAAGGTGAG -3'
(R):5'- TGTACAGCAGCGACCCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation