Incidental Mutation 'IGL02173:Tor3a'
| ID |
282992 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tor3a
|
| Ensembl Gene |
ENSMUSG00000060519 |
| Gene Name |
torsin family 3, member A |
| Synonyms |
Adir |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL02173
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
156481187-156501909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156501776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 34
(K34E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079625]
[ENSMUST00000086153]
[ENSMUST00000122242]
[ENSMUST00000122424]
[ENSMUST00000150557]
[ENSMUST00000156861]
[ENSMUST00000188964]
[ENSMUST00000190607]
|
| AlphaFold |
Q9ER38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079625
AA Change: K34E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000078572
Gene: ENSMUSG00000060519
AA Change: K34E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
93 |
222 |
1.1e-60 |
PFAM |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086153
|
| SMART Domains |
Protein: ENSMUSP00000083322
Gene: ENSMUSG00000033557
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:Fam20C
|
188 |
399 |
3.1e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122242
AA Change: K34E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113984
Gene: ENSMUSG00000060519
AA Change: K34E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
93 |
222 |
1.1e-60 |
PFAM |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122424
|
| SMART Domains |
Protein: ENSMUSP00000112534
Gene: ENSMUSG00000033557
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:DUF1193
|
187 |
402 |
2e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150557
AA Change: K34E
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137828
Gene: ENSMUSG00000060519
AA Change: K34E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
93 |
206 |
2.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156861
AA Change: K34E
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140808
Gene: ENSMUSG00000060519
AA Change: K34E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188964
AA Change: K34E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140079
Gene: ENSMUSG00000060519
AA Change: K34E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
93 |
222 |
1.1e-60 |
PFAM |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190607
AA Change: K34E
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140129
Gene: ENSMUSG00000060519
AA Change: K34E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194858
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,061,754 (GRCm39) |
H68L |
possibly damaging |
Het |
| 4930533K18Rik |
A |
G |
10: 70,708,060 (GRCm39) |
|
noncoding transcript |
Het |
| 4933409G03Rik |
A |
G |
2: 68,443,401 (GRCm39) |
T182A |
unknown |
Het |
| Abca2 |
T |
A |
2: 25,331,909 (GRCm39) |
D1340E |
probably benign |
Het |
| Abcc12 |
G |
A |
8: 87,293,071 (GRCm39) |
A39V |
probably damaging |
Het |
| Acap2 |
T |
C |
16: 30,926,965 (GRCm39) |
R510G |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,879,817 (GRCm39) |
R719L |
probably benign |
Het |
| Adarb1 |
A |
C |
10: 77,157,659 (GRCm39) |
F263V |
probably damaging |
Het |
| Ahcyl |
T |
C |
16: 45,974,441 (GRCm39) |
N312S |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,748,013 (GRCm39) |
S1130P |
probably benign |
Het |
| Aqp7 |
A |
T |
4: 41,034,379 (GRCm39) |
L260* |
probably null |
Het |
| Cntn5 |
G |
T |
9: 9,748,401 (GRCm39) |
S493R |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,080,165 (GRCm39) |
F138S |
probably damaging |
Het |
| D2hgdh |
T |
A |
1: 93,757,611 (GRCm39) |
D175E |
probably benign |
Het |
| Dtx4 |
G |
T |
19: 12,450,621 (GRCm39) |
Y530* |
probably null |
Het |
| Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,225,690 (GRCm39) |
D218G |
possibly damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,258 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
C |
T |
15: 6,610,176 (GRCm39) |
P250S |
probably benign |
Het |
| Gaa |
A |
G |
11: 119,165,739 (GRCm39) |
Y84C |
probably damaging |
Het |
| Galns |
A |
T |
8: 123,325,365 (GRCm39) |
S262R |
probably damaging |
Het |
| Gfus |
A |
G |
15: 75,798,034 (GRCm39) |
S233P |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,663,906 (GRCm39) |
I345T |
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,934,717 (GRCm39) |
V671A |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 51,598,208 (GRCm39) |
L179F |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,826,318 (GRCm39) |
L1089P |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,357,743 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,778,949 (GRCm39) |
M83T |
possibly damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,037 (GRCm39) |
P291S |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,691 (GRCm39) |
V240A |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,378 (GRCm39) |
T74A |
probably benign |
Het |
| Otog |
T |
C |
7: 45,926,165 (GRCm39) |
|
probably benign |
Het |
| Pcbd1 |
A |
G |
10: 60,927,983 (GRCm39) |
|
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,264,248 (GRCm39) |
V164A |
possibly damaging |
Het |
| Pgd |
A |
G |
4: 149,241,210 (GRCm39) |
I233T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,330 (GRCm39) |
H733L |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,574,206 (GRCm39) |
N205K |
probably benign |
Het |
| Sstr2 |
G |
T |
11: 113,515,842 (GRCm39) |
V254L |
probably damaging |
Het |
| Tm9sf2 |
G |
T |
14: 122,380,835 (GRCm39) |
V308F |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,164,381 (GRCm39) |
|
probably null |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,117 (GRCm39) |
S167P |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,759 (GRCm39) |
I413N |
probably damaging |
Het |
|
| Other mutations in Tor3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03268:Tor3a
|
APN |
1 |
156,497,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2943:Tor3a
|
UTSW |
1 |
156,501,665 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3858:Tor3a
|
UTSW |
1 |
156,497,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Tor3a
|
UTSW |
1 |
156,483,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5204:Tor3a
|
UTSW |
1 |
156,483,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5352:Tor3a
|
UTSW |
1 |
156,501,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Tor3a
|
UTSW |
1 |
156,501,137 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5653:Tor3a
|
UTSW |
1 |
156,484,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:Tor3a
|
UTSW |
1 |
156,484,057 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6170:Tor3a
|
UTSW |
1 |
156,484,143 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7674:Tor3a
|
UTSW |
1 |
156,483,478 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8833:Tor3a
|
UTSW |
1 |
156,483,373 (GRCm39) |
missense |
probably benign |
|
|
R9509:Tor3a
|
UTSW |
1 |
156,483,499 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9644:Tor3a
|
UTSW |
1 |
156,501,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9743:Tor3a
|
UTSW |
1 |
156,501,103 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1177:Tor3a
|
UTSW |
1 |
156,501,800 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2015-04-16 |
Incidental Mutation