Incidental Mutation 'IGL01786:Tor1a'
| ID |
278917 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tor1a
|
| Ensembl Gene |
ENSMUSG00000026849 |
| Gene Name |
torsin family 1, member A (torsin A) |
| Synonyms |
Dyt1, DQ2, torsinA, Tor1a |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30850639-30857945 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4688 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 30853715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028199]
[ENSMUST00000028200]
[ENSMUST00000156711]
|
| AlphaFold |
Q9ER39 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028199
|
| SMART Domains |
Protein: ENSMUSP00000028199
Gene: ENSMUSG00000026848
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
AAA
|
101 |
244 |
1.64e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028200
AA Change: I205T
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028200
Gene: ENSMUSG00000026849
AA Change: I205T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
45 |
170 |
3.2e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144152
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156711
|
| SMART Domains |
Protein: ENSMUSP00000120415
Gene: ENSMUSG00000026848
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Torsin
|
1 |
100 |
1.4e-41 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die either embryonically or very soon after birth. Heterozygous males display hyperactivity and coordination difficulties. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
T |
A |
8: 25,486,855 (GRCm39) |
H20L |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,279,137 (GRCm39) |
D468E |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,716,534 (GRCm39) |
S333P |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,116,936 (GRCm39) |
T398A |
probably benign |
Het |
| Klra8 |
T |
A |
6: 130,096,031 (GRCm39) |
|
probably null |
Het |
| Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,085,946 (GRCm39) |
Q36R |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,156,330 (GRCm39) |
S726P |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,338,052 (GRCm39) |
S242G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,030,083 (GRCm39) |
Y265* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,641 (GRCm39) |
T132I |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,824,488 (GRCm39) |
V298A |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,296,479 (GRCm39) |
D847G |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,179,881 (GRCm39) |
F110L |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,936,896 (GRCm39) |
T1638S |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Rnf32 |
T |
C |
5: 29,411,812 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,263,782 (GRCm39) |
Y650C |
probably damaging |
Het |
| Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
| Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
Het |
|
| Other mutations in Tor1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Tor1a
|
APN |
2 |
30,857,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01785:Tor1a
|
APN |
2 |
30,853,715 (GRCm39) |
splice site |
probably null |
|
|
IGL03385:Tor1a
|
APN |
2 |
30,853,739 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0282:Tor1a
|
UTSW |
2 |
30,857,737 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0735:Tor1a
|
UTSW |
2 |
30,853,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1085:Tor1a
|
UTSW |
2 |
30,857,796 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4368:Tor1a
|
UTSW |
2 |
30,857,382 (GRCm39) |
unclassified |
probably benign |
|
|
R4766:Tor1a
|
UTSW |
2 |
30,857,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7361:Tor1a
|
UTSW |
2 |
30,853,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7598:Tor1a
|
UTSW |
2 |
30,857,796 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7946:Tor1a
|
UTSW |
2 |
30,853,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9296:Tor1a
|
UTSW |
2 |
30,851,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Tor1a
|
UTSW |
2 |
30,857,927 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation