Incidental Mutation 'R6688:Atxn1'
| ID |
527870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn1
|
| Ensembl Gene |
ENSMUSG00000046876 |
| Gene Name |
ataxin 1 |
| Synonyms |
Atx1, Sca1, 2900016G23Rik |
| MMRRC Submission |
044806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
45703231-46118467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45721147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 249
(H249Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091628]
[ENSMUST00000167708]
[ENSMUST00000180110]
|
| AlphaFold |
P54254 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091628
AA Change: H249Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: H249Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
Pfam:ATXN-1_C
|
391 |
421 |
8.7e-15 |
PFAM |
|
AXH
|
545 |
664 |
1.42e-82 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167708
AA Change: H249Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: H249Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
Pfam:ATXN-1_C
|
391 |
421 |
8.7e-15 |
PFAM |
|
AXH
|
545 |
664 |
1.42e-82 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180110
AA Change: H249Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: H249Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
Pfam:ATXN-1_C
|
402 |
421 |
3e-10 |
PFAM |
|
low complexity region
|
537 |
548 |
N/A |
INTRINSIC |
|
Pfam:AXH
|
550 |
671 |
1.1e-44 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd22 |
A |
C |
7: 30,572,389 (GRCm39) |
S362A |
possibly damaging |
Het |
| Cep120 |
G |
A |
18: 53,857,608 (GRCm39) |
P286S |
probably benign |
Het |
| Ces1g |
G |
A |
8: 94,033,600 (GRCm39) |
P441S |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,744,472 (GRCm39) |
I316V |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,600,899 (GRCm39) |
D747E |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,015 (GRCm39) |
V572A |
probably benign |
Het |
| Cyb5rl |
C |
T |
4: 106,931,102 (GRCm39) |
A128V |
probably damaging |
Het |
| Dnttip1 |
T |
C |
2: 164,607,081 (GRCm39) |
Y241H |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,343,278 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ip6k2 |
C |
A |
9: 108,683,210 (GRCm39) |
T440K |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,578,749 (GRCm39) |
N126D |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,774,041 (GRCm39) |
F5551I |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,023,417 (GRCm39) |
L1587P |
probably damaging |
Het |
| Nherf4 |
C |
T |
9: 44,159,527 (GRCm39) |
|
probably null |
Het |
| Nop53 |
A |
G |
7: 15,679,779 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,949,135 (GRCm39) |
T1045A |
probably benign |
Het |
| Plg |
A |
T |
17: 12,610,732 (GRCm39) |
H215L |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 78,976,435 (GRCm39) |
Q1307L |
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,166,870 (GRCm39) |
E129G |
possibly damaging |
Het |
| Stx1b |
C |
T |
7: 127,407,068 (GRCm39) |
R209Q |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,738,736 (GRCm39) |
I905T |
possibly damaging |
Het |
| Tmem252 |
G |
A |
19: 24,651,463 (GRCm39) |
A11T |
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,455,623 (GRCm39) |
N54S |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,277,553 (GRCm39) |
S269G |
probably benign |
Het |
| Wasf1 |
T |
C |
10: 40,802,616 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,544,249 (GRCm39) |
V58D |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,940 (GRCm39) |
T322A |
possibly damaging |
Het |
|
| Other mutations in Atxn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01374:Atxn1
|
APN |
13 |
45,721,903 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01467:Atxn1
|
APN |
13 |
45,720,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Atxn1
|
APN |
13 |
45,710,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01512:Atxn1
|
APN |
13 |
45,720,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01735:Atxn1
|
APN |
13 |
45,720,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Atxn1
|
APN |
13 |
45,721,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02333:Atxn1
|
APN |
13 |
45,720,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cormorant
|
UTSW |
13 |
45,710,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pelagic
|
UTSW |
13 |
45,720,288 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0136:Atxn1
|
UTSW |
13 |
45,720,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0180:Atxn1
|
UTSW |
13 |
45,711,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0299:Atxn1
|
UTSW |
13 |
45,720,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0540:Atxn1
|
UTSW |
13 |
45,711,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1220:Atxn1
|
UTSW |
13 |
45,710,899 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1484:Atxn1
|
UTSW |
13 |
45,711,052 (GRCm39) |
nonsense |
probably null |
|
|
R1532:Atxn1
|
UTSW |
13 |
45,720,386 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1885:Atxn1
|
UTSW |
13 |
45,721,280 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2277:Atxn1
|
UTSW |
13 |
45,710,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2847:Atxn1
|
UTSW |
13 |
45,720,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Atxn1
|
UTSW |
13 |
45,720,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Atxn1
|
UTSW |
13 |
46,119,443 (GRCm39) |
unclassified |
probably benign |
|
|
R4626:Atxn1
|
UTSW |
13 |
45,720,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4768:Atxn1
|
UTSW |
13 |
45,711,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4944:Atxn1
|
UTSW |
13 |
45,720,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Atxn1
|
UTSW |
13 |
45,710,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Atxn1
|
UTSW |
13 |
45,710,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5293:Atxn1
|
UTSW |
13 |
45,721,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5299:Atxn1
|
UTSW |
13 |
45,710,730 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5561:Atxn1
|
UTSW |
13 |
45,720,347 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5667:Atxn1
|
UTSW |
13 |
45,710,853 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6092:Atxn1
|
UTSW |
13 |
45,720,288 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6272:Atxn1
|
UTSW |
13 |
45,721,238 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6372:Atxn1
|
UTSW |
13 |
45,710,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6997:Atxn1
|
UTSW |
13 |
45,721,095 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7041:Atxn1
|
UTSW |
13 |
45,720,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Atxn1
|
UTSW |
13 |
45,720,834 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7600:Atxn1
|
UTSW |
13 |
45,710,536 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8112:Atxn1
|
UTSW |
13 |
45,721,433 (GRCm39) |
missense |
probably benign |
|
|
R8297:Atxn1
|
UTSW |
13 |
45,720,505 (GRCm39) |
missense |
probably benign |
|
|
R8411:Atxn1
|
UTSW |
13 |
45,720,032 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8482:Atxn1
|
UTSW |
13 |
45,721,426 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9022:Atxn1
|
UTSW |
13 |
45,720,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Atxn1
|
UTSW |
13 |
45,710,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9310:Atxn1
|
UTSW |
13 |
45,721,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Atxn1
|
UTSW |
13 |
45,721,433 (GRCm39) |
missense |
probably benign |
|
|
R9626:Atxn1
|
UTSW |
13 |
45,710,796 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9673:Atxn1
|
UTSW |
13 |
45,710,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9744:Atxn1
|
UTSW |
13 |
45,721,299 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCACTGACTTACTGCTTG -3'
(R):5'- AGGACATAAGGTTGAGCCCC -3'
Sequencing Primer
(F):5'- GCTCAGCTCCACAGAAGATGATG -3'
(R):5'- ATAAGGTTGAGCCCCCTCCG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation