Incidental Mutation 'R7240:Atn1'
| ID |
563139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atn1
|
| Ensembl Gene |
ENSMUSG00000004263 |
| Gene Name |
atrophin 1 |
| Synonyms |
atrophin-1, Atr1, Drpla |
| MMRRC Submission |
045347-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124719507-124733450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124724861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 124
(I124K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088357]
[ENSMUST00000129411]
[ENSMUST00000146872]
|
| AlphaFold |
O35126 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000088357
AA Change: I124K
|
| SMART Domains |
Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: I124K
| 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: I124K
|
| SMART Domains |
Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: I124K
| 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 |
unknown
Transcript: ENSMUST00000146872
AA Change: I124K
|
| SMART Domains |
Protein: ENSMUSP00000123560
Gene: ENSMUSG00000004263
AA Change: I124K
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (50/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210017I01Rik |
A |
G |
3: 92,512,382 (GRCm39) |
I59T |
unknown |
Het |
| Aspm |
C |
T |
1: 139,406,389 (GRCm39) |
Q1759* |
probably null |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
C |
T |
12: 100,911,198 (GRCm39) |
V879M |
probably benign |
Het |
| Cd300c |
A |
G |
11: 114,850,609 (GRCm39) |
C65R |
possibly damaging |
Het |
| Cd69 |
A |
T |
6: 129,247,005 (GRCm39) |
S112T |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,821,137 (GRCm39) |
T534A |
probably benign |
Het |
| Cdk5rap2 |
T |
A |
4: 70,210,145 (GRCm39) |
D701V |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,874 (GRCm39) |
H157R |
possibly damaging |
Het |
| Dpf1 |
T |
A |
7: 29,011,052 (GRCm39) |
F150L |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,416,166 (GRCm39) |
L689P |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,381,861 (GRCm39) |
M538I |
probably benign |
Het |
| E4f1 |
T |
A |
17: 24,663,299 (GRCm39) |
I669F |
probably damaging |
Het |
| Gm7138 |
T |
C |
10: 77,612,589 (GRCm39) |
T64A |
unknown |
Het |
| Gnai2 |
A |
C |
9: 107,492,972 (GRCm39) |
D310E |
|
Het |
| Iqca1 |
A |
G |
1: 89,998,272 (GRCm39) |
V567A |
possibly damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,409,587 (GRCm39) |
N249K |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,110,396 (GRCm39) |
V1093A |
possibly damaging |
Het |
| Mfap3 |
A |
G |
11: 57,420,582 (GRCm39) |
K188E |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,951,888 (GRCm39) |
V431D |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,795,445 (GRCm39) |
T792A |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,581,603 (GRCm39) |
H592R |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,362,317 (GRCm39) |
C202R |
probably benign |
Het |
| Or10j2 |
T |
C |
1: 173,098,561 (GRCm39) |
I273T |
probably benign |
Het |
| Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,395 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,022,140 (GRCm39) |
M121V |
probably damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,009 (GRCm39) |
D70G |
probably benign |
Het |
| Or8g24 |
A |
T |
9: 38,989,906 (GRCm39) |
M45K |
probably damaging |
Het |
| Parpbp |
G |
A |
10: 87,960,802 (GRCm39) |
T228I |
probably damaging |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,756 (GRCm39) |
V609M |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,100,830 (GRCm39) |
N543S |
probably damaging |
Het |
| Puf60 |
A |
G |
15: 75,944,388 (GRCm39) |
|
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,730,095 (GRCm39) |
D184E |
probably damaging |
Het |
| Rnase9 |
A |
C |
14: 51,276,436 (GRCm39) |
S181A |
probably benign |
Het |
| Rnpc3 |
T |
A |
3: 113,410,480 (GRCm39) |
R270S |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,322,374 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
| Scn3a |
A |
T |
2: 65,299,386 (GRCm39) |
D1373E |
possibly damaging |
Het |
| Serpina3k |
T |
G |
12: 104,306,861 (GRCm39) |
I31S |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,196,599 (GRCm39) |
F712L |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,138,875 (GRCm39) |
V529A |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,696,239 (GRCm39) |
N58S |
probably benign |
Het |
| Tmc2 |
C |
T |
2: 130,076,724 (GRCm39) |
T350I |
possibly damaging |
Het |
| Tpst2 |
T |
C |
5: 112,455,544 (GRCm39) |
C28R |
probably benign |
Het |
| Trbv21 |
A |
T |
6: 41,179,892 (GRCm39) |
K69N |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,771,710 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,679,334 (GRCm39) |
V10796A |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,643,858 (GRCm39) |
T4407A |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,225 (GRCm39) |
H726R |
probably benign |
Het |
| Zfp777 |
A |
G |
6: 48,021,383 (GRCm39) |
S80P |
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 |
|
|
R6606:Atn1
|
UTSW |
6 |
124,721,919 (GRCm39) |
unclassified |
probably benign |
|
|
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'- GAGGTTCAAAGCCAGACTCTG -3'
(R):5'- CTATTAGGGAGCAGCCGAGATG -3'
Sequencing Primer
(F):5'- AGACTCTGGCTGTCGGG -3'
(R):5'- TTGAGCGAGCCTCCCCATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation