Incidental Mutation 'R6427:Atn1'
| ID |
518358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atn1
|
| Ensembl Gene |
ENSMUSG00000004263 |
| Gene Name |
atrophin 1 |
| Synonyms |
atrophin-1, Atr1, Drpla |
| MMRRC Submission |
044566-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6427 (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 T
at 124723139 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: A698E
|
| SMART Domains |
Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: A698E
| 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: A698E
|
| SMART Domains |
Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: A698E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158458
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Ankmy2 |
A |
G |
12: 36,237,710 (GRCm39) |
S270G |
possibly damaging |
Het |
| Anxa2 |
T |
A |
9: 69,383,431 (GRCm39) |
|
probably null |
Het |
| Arid1a |
G |
T |
4: 133,408,835 (GRCm39) |
P1891T |
unknown |
Het |
| Atp8b3 |
A |
T |
10: 80,356,157 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
C |
14: 59,743,719 (GRCm39) |
K94N |
possibly damaging |
Het |
| Cacna2d2 |
G |
T |
9: 107,392,641 (GRCm39) |
M528I |
possibly damaging |
Het |
| Ccnc |
T |
A |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
C |
5: 123,464,596 (GRCm39) |
L1268P |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,721,512 (GRCm39) |
T774I |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 96,024,387 (GRCm39) |
|
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,412,156 (GRCm39) |
F209L |
probably damaging |
Het |
| Cyp2j7 |
C |
A |
4: 96,115,904 (GRCm39) |
D181Y |
probably damaging |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Ddr1 |
C |
A |
17: 35,998,114 (GRCm39) |
R477L |
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,525,310 (GRCm39) |
T22A |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,728,081 (GRCm39) |
D294G |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,241,439 (GRCm39) |
I569V |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,573,227 (GRCm39) |
R2141S |
possibly damaging |
Het |
| Kat6b |
T |
C |
14: 21,567,480 (GRCm39) |
S180P |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,631,454 (GRCm39) |
E655K |
possibly damaging |
Het |
| Mro |
T |
A |
18: 74,005,104 (GRCm39) |
L69Q |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,381,049 (GRCm39) |
L581H |
probably benign |
Het |
| Nkiras2 |
C |
T |
11: 100,515,861 (GRCm39) |
R63W |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,058 (GRCm39) |
S182T |
possibly damaging |
Het |
| Obi1 |
T |
C |
14: 104,717,662 (GRCm39) |
K237R |
possibly damaging |
Het |
| Or52b4i |
A |
T |
7: 102,191,895 (GRCm39) |
I251F |
probably benign |
Het |
| Otud4 |
T |
C |
8: 80,395,126 (GRCm39) |
S553P |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,086,786 (GRCm39) |
I323T |
probably benign |
Het |
| Polr1b |
G |
T |
2: 128,965,181 (GRCm39) |
A756S |
probably damaging |
Het |
| Prex2 |
A |
T |
1: 11,252,255 (GRCm39) |
Y1100F |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,242 (GRCm39) |
S328T |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,774,998 (GRCm39) |
T52A |
probably damaging |
Het |
| Taf3 |
A |
T |
2: 9,956,164 (GRCm39) |
F515I |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,176,966 (GRCm39) |
|
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,120,947 (GRCm39) |
Y322C |
possibly damaging |
Het |
| Zfp735 |
G |
A |
11: 73,581,140 (GRCm39) |
C59Y |
possibly damaging |
Het |
| Zfp759 |
A |
G |
13: 67,287,162 (GRCm39) |
|
probably null |
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 |
|
|
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'- AGTTTGTCGCTCGCTAATCC -3'
(R):5'- TCAGTACAGCAAGAGAGCCC -3'
Sequencing Primer
(F):5'- TCGCTAATCCCGGCAGCAC -3'
(R):5'- TCCCCAGGGTCCTACAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation