Incidental Mutation 'R2394:Atxn7'
| ID |
247926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn7
|
| Ensembl Gene |
ENSMUSG00000021738 |
| Gene Name |
ataxin 7 |
| Synonyms |
Sca7, A430107N12Rik, ataxin-7 |
| MMRRC Submission |
040362-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2394 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
8362461-8508323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14100237 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 641
(V641A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022257]
[ENSMUST00000223714]
[ENSMUST00000223880]
|
| AlphaFold |
Q8R4I1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022257
AA Change: V641A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022257
Gene: ENSMUSG00000021738
AA Change: V641A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
135 |
157 |
2.47e1 |
SMART |
|
low complexity region
|
174 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
218 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
313 |
381 |
1.4e-30 |
PFAM |
|
low complexity region
|
393 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223714
AA Change: V641A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223880
AA Change: V641A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224315
|
| Meta Mutation Damage Score |
0.0740 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (41/41) |
| 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. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Heterozygotes for a targeted mutation with an expanded polyglutamine tract exhibit impaired coordination, ataxia, reduced growth, kyphosis, eye defects, poor reproduction, and high mortality at around 4 months. Homozygotes die at 7-8 weeks of age. [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 |
|---|
| 1700020L13Rik |
A |
T |
7: 29,980,053 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,500,190 (GRCm39) |
|
probably null |
Het |
| C3 |
G |
A |
17: 57,529,303 (GRCm39) |
Q30* |
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,445,894 (GRCm39) |
I426T |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cwc27 |
A |
C |
13: 104,932,942 (GRCm39) |
D253E |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,696,464 (GRCm39) |
Y892* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,369,438 (GRCm39) |
Y4354N |
probably benign |
Het |
| Dync2li1 |
T |
A |
17: 84,952,175 (GRCm39) |
I202K |
possibly damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,485,991 (GRCm39) |
V446E |
probably benign |
Het |
| Efcab3 |
C |
A |
11: 104,629,121 (GRCm39) |
T933K |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,178,058 (GRCm39) |
I423V |
probably benign |
Het |
| Gm5108 |
T |
C |
5: 68,132,475 (GRCm39) |
|
probably benign |
Het |
| Htr3a |
A |
G |
9: 48,817,643 (GRCm39) |
V110A |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,757,005 (GRCm39) |
S1365Y |
possibly damaging |
Het |
| Lrrc46 |
T |
C |
11: 96,929,657 (GRCm39) |
I60V |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,019,702 (GRCm39) |
Y803N |
probably benign |
Het |
| Nlrp14 |
T |
C |
7: 106,797,031 (GRCm39) |
V307A |
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,878,506 (GRCm39) |
|
probably null |
Het |
| Obox2 |
C |
T |
7: 15,130,935 (GRCm39) |
P56S |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,319 (GRCm39) |
I151M |
possibly damaging |
Het |
| Oog3 |
T |
A |
4: 143,885,884 (GRCm39) |
D238V |
probably benign |
Het |
| Pde11a |
T |
C |
2: 75,889,405 (GRCm39) |
T690A |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,508,163 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,655,351 (GRCm39) |
E306G |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,544,119 (GRCm39) |
R89C |
probably damaging |
Het |
| Ptprk |
T |
G |
10: 28,427,713 (GRCm39) |
I764S |
probably damaging |
Het |
| Ripk2 |
T |
C |
4: 16,132,774 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,940,735 (GRCm39) |
M702T |
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,615,100 (GRCm39) |
I335T |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,453,743 (GRCm39) |
D96E |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,022,346 (GRCm39) |
S915T |
possibly damaging |
Het |
| Unc5c |
A |
T |
3: 141,383,892 (GRCm39) |
Q90L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
|
| Other mutations in Atxn7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Atxn7
|
APN |
14 |
14,096,324 (GRCm38) |
splice site |
probably benign |
|
|
IGL00782:Atxn7
|
APN |
14 |
14,096,218 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL01405:Atxn7
|
APN |
14 |
14,100,105 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02828:Atxn7
|
APN |
14 |
14,090,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03119:Atxn7
|
APN |
14 |
14,100,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03139:Atxn7
|
APN |
14 |
14,052,994 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03282:Atxn7
|
APN |
14 |
14,100,564 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03387:Atxn7
|
APN |
14 |
14,087,273 (GRCm38) |
splice site |
probably benign |
|
|
Estes_park
|
UTSW |
14 |
14,096,317 (GRCm38) |
critical splice donor site |
probably null |
|
|
Lumpy
|
UTSW |
14 |
14,089,446 (GRCm38) |
nonsense |
probably null |
|
|
Oestes_park
|
UTSW |
14 |
14,096,268 (GRCm38) |
nonsense |
probably null |
|
|
R0034:Atxn7
|
UTSW |
14 |
14,100,846 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0408:Atxn7
|
UTSW |
14 |
14,100,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0853:Atxn7
|
UTSW |
14 |
14,089,465 (GRCm38) |
splice site |
probably benign |
|
|
R1169:Atxn7
|
UTSW |
14 |
14,095,468 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1678:Atxn7
|
UTSW |
14 |
14,096,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1802:Atxn7
|
UTSW |
14 |
14,089,419 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2078:Atxn7
|
UTSW |
14 |
14,052,975 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2275:Atxn7
|
UTSW |
14 |
14,013,268 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4118:Atxn7
|
UTSW |
14 |
14,100,308 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4230:Atxn7
|
UTSW |
14 |
14,100,381 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4588:Atxn7
|
UTSW |
14 |
14,096,268 (GRCm38) |
nonsense |
probably null |
|
|
R4688:Atxn7
|
UTSW |
14 |
14,089,288 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4935:Atxn7
|
UTSW |
14 |
14,100,401 (GRCm38) |
missense |
probably benign |
|
|
R5041:Atxn7
|
UTSW |
14 |
14,096,317 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5185:Atxn7
|
UTSW |
14 |
14,090,063 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5561:Atxn7
|
UTSW |
14 |
14,089,260 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5641:Atxn7
|
UTSW |
14 |
14,013,638 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6490:Atxn7
|
UTSW |
14 |
14,089,446 (GRCm38) |
nonsense |
probably null |
|
|
R6549:Atxn7
|
UTSW |
14 |
14,013,087 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6623:Atxn7
|
UTSW |
14 |
14,099,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6950:Atxn7
|
UTSW |
14 |
14,095,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7054:Atxn7
|
UTSW |
14 |
14,100,878 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7402:Atxn7
|
UTSW |
14 |
14,095,427 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7762:Atxn7
|
UTSW |
14 |
14,100,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8432:Atxn7
|
UTSW |
14 |
14,013,635 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8786:Atxn7
|
UTSW |
14 |
14,103,316 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R9238:Atxn7
|
UTSW |
14 |
14,089,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAGCAACCACTGTCTCC -3'
(R):5'- TGTTGACAGGTATGGAGTCCC -3'
Sequencing Primer
(F):5'- AACCACTGTCTCCGCGCC -3'
(R):5'- GAGCCACACAGTTTTTCCTAAAAGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation