Incidental Mutation 'R6538:Atn1'
| ID |
520530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atn1
|
| Ensembl Gene |
ENSMUSG00000004263 |
| Gene Name |
atrophin 1 |
| Synonyms |
atrophin-1, Atr1, Drpla |
| MMRRC Submission |
044664-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6538 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124719507-124733450 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 124723512 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: S574P
|
| SMART Domains |
Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: S574P
| 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: S574P
|
| SMART Domains |
Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: S574P
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
G |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Abcd4 |
T |
A |
12: 84,658,535 (GRCm39) |
M223L |
probably benign |
Het |
| Adat1 |
T |
C |
8: 112,695,094 (GRCm39) |
I482V |
probably benign |
Het |
| Adrm1b |
C |
T |
3: 92,336,562 (GRCm39) |
V47M |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,735,541 (GRCm39) |
|
probably null |
Het |
| Cyb561d2 |
C |
A |
9: 107,417,216 (GRCm39) |
M178I |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,412,550 (GRCm39) |
H30L |
unknown |
Het |
| Dnah2 |
T |
C |
11: 69,328,023 (GRCm39) |
I3367V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,802,762 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Gm7298 |
G |
T |
6: 121,753,132 (GRCm39) |
V870L |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,856 (GRCm39) |
S639G |
probably damaging |
Het |
| H1f6 |
A |
G |
13: 23,879,904 (GRCm39) |
E19G |
probably benign |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,685 (GRCm39) |
T72S |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,219,953 (GRCm39) |
H76L |
probably damaging |
Het |
| Lamp1 |
A |
G |
8: 13,221,285 (GRCm39) |
T209A |
probably benign |
Het |
| Lrrc9 |
T |
A |
12: 72,547,703 (GRCm39) |
Y1294N |
probably benign |
Het |
| Or2b11 |
C |
T |
11: 59,462,411 (GRCm39) |
V52I |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,869 (GRCm39) |
T258S |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,493,853 (GRCm39) |
Y272H |
probably damaging |
Het |
| Spindoc |
T |
C |
19: 7,360,064 (GRCm39) |
I35V |
probably benign |
Het |
| St6galnac4 |
A |
C |
2: 32,487,090 (GRCm39) |
M262L |
possibly damaging |
Het |
| Szt2 |
C |
T |
4: 118,247,674 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
T |
C |
13: 120,702,468 (GRCm39) |
V88A |
possibly damaging |
Het |
| Trem1 |
T |
C |
17: 48,544,118 (GRCm39) |
Y48H |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,969,932 (GRCm39) |
T164S |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,948,573 (GRCm39) |
H462Q |
possibly damaging |
Het |
| Zfyve16 |
C |
T |
13: 92,641,024 (GRCm39) |
G1240E |
probably 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 |
|
|
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'- TGACCCCGGTTTGTATCCAG -3'
(R):5'- GAGAGCAGTAACTCCCATCATGC -3'
Sequencing Primer
(F):5'- TGGCTGTCTTGTAGGACCC -3'
(R):5'- TGCACACCCTTACAACATGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation