Incidental Mutation 'IGL03229:Tor2a'
ID |
413817 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tor2a
|
Ensembl Gene |
ENSMUSG00000009563 |
Gene Name |
torsin family 2, member A |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.390)
|
Stock # |
IGL03229
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32647289-32652256 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32649704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 189
(I189F)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009707]
[ENSMUST00000066478]
[ENSMUST00000074248]
[ENSMUST00000091059]
[ENSMUST00000113242]
[ENSMUST00000177382]
[ENSMUST00000175763]
[ENSMUST00000156617]
[ENSMUST00000161430]
[ENSMUST00000161950]
[ENSMUST00000161089]
[ENSMUST00000125891]
|
AlphaFold |
Q8R1J9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009707
AA Change: I195F
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000009707 Gene: ENSMUSG00000009563 AA Change: I195F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Torsin
|
35 |
160 |
1.2e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066478
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
18 |
51 |
2.26e-3 |
SMART |
TPR
|
52 |
85 |
4.09e-1 |
SMART |
TPR
|
93 |
126 |
8.3e-2 |
SMART |
TPR
|
161 |
194 |
4.44e1 |
SMART |
TPR
|
208 |
241 |
3.69e1 |
SMART |
TPR
|
242 |
275 |
1.08e1 |
SMART |
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
TPR
|
322 |
355 |
1.02e-1 |
SMART |
TPR
|
363 |
396 |
7.27e0 |
SMART |
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074248
|
SMART Domains |
Protein: ENSMUSP00000073866 Gene: ENSMUSG00000059013
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
low complexity region
|
86 |
98 |
N/A |
INTRINSIC |
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
low complexity region
|
190 |
207 |
N/A |
INTRINSIC |
SH2
|
213 |
301 |
7.8e-21 |
SMART |
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
low complexity region
|
400 |
415 |
N/A |
INTRINSIC |
low complexity region
|
422 |
436 |
N/A |
INTRINSIC |
low complexity region
|
474 |
487 |
N/A |
INTRINSIC |
RasGEF
|
576 |
849 |
8.18e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091059
|
SMART Domains |
Protein: ENSMUSP00000088585 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
75 |
108 |
2.26e-3 |
SMART |
TPR
|
109 |
142 |
4.09e-1 |
SMART |
TPR
|
150 |
183 |
8.3e-2 |
SMART |
TPR
|
218 |
251 |
4.44e1 |
SMART |
TPR
|
265 |
298 |
3.69e1 |
SMART |
TPR
|
299 |
332 |
1.08e1 |
SMART |
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
TPR
|
379 |
412 |
1.02e-1 |
SMART |
TPR
|
420 |
453 |
7.27e0 |
SMART |
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
low complexity region
|
666 |
679 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113242
|
SMART Domains |
Protein: ENSMUSP00000108868 Gene: ENSMUSG00000059013
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
SH2
|
61 |
149 |
7.8e-21 |
SMART |
low complexity region
|
181 |
196 |
N/A |
INTRINSIC |
low complexity region
|
248 |
263 |
N/A |
INTRINSIC |
low complexity region
|
270 |
284 |
N/A |
INTRINSIC |
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
RasGEF
|
424 |
697 |
8.18e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123624
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140999
AA Change: I189F
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149720
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177382
|
SMART Domains |
Protein: ENSMUSP00000134968 Gene: ENSMUSG00000009563
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Torsin
|
35 |
101 |
1.4e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175763
|
SMART Domains |
Protein: ENSMUSP00000135701 Gene: ENSMUSG00000009563
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156617
|
SMART Domains |
Protein: ENSMUSP00000122251 Gene: ENSMUSG00000009563
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161430
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
75 |
108 |
2.26e-3 |
SMART |
TPR
|
109 |
142 |
4.09e-1 |
SMART |
TPR
|
150 |
183 |
8.3e-2 |
SMART |
TPR
|
218 |
251 |
4.44e1 |
SMART |
TPR
|
265 |
298 |
3.69e1 |
SMART |
TPR
|
299 |
332 |
1.08e1 |
SMART |
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
TPR
|
379 |
412 |
1.02e-1 |
SMART |
TPR
|
420 |
453 |
7.27e0 |
SMART |
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
low complexity region
|
596 |
611 |
N/A |
INTRINSIC |
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
low complexity region
|
686 |
697 |
N/A |
INTRINSIC |
low complexity region
|
782 |
807 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161950
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
18 |
51 |
2.26e-3 |
SMART |
TPR
|
52 |
85 |
4.09e-1 |
SMART |
TPR
|
93 |
126 |
8.3e-2 |
SMART |
TPR
|
161 |
194 |
4.44e1 |
SMART |
TPR
|
208 |
241 |
3.69e1 |
SMART |
TPR
|
242 |
275 |
1.08e1 |
SMART |
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
TPR
|
322 |
355 |
1.02e-1 |
SMART |
TPR
|
363 |
396 |
7.27e0 |
SMART |
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161089
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
18 |
51 |
2.26e-3 |
SMART |
TPR
|
52 |
85 |
4.09e-1 |
SMART |
TPR
|
93 |
126 |
8.3e-2 |
SMART |
TPR
|
161 |
194 |
4.44e1 |
SMART |
TPR
|
208 |
241 |
3.69e1 |
SMART |
TPR
|
242 |
275 |
1.08e1 |
SMART |
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
TPR
|
322 |
355 |
1.02e-1 |
SMART |
TPR
|
363 |
396 |
7.27e0 |
SMART |
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125891
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
C |
5: 8,990,936 (GRCm39) |
I832T |
probably damaging |
Het |
Adcyap1r1 |
T |
C |
6: 55,455,108 (GRCm39) |
S124P |
probably damaging |
Het |
Ccn3 |
A |
G |
15: 54,612,704 (GRCm39) |
T238A |
probably benign |
Het |
Coq4 |
A |
G |
2: 29,678,497 (GRCm39) |
D41G |
probably benign |
Het |
Cpb1 |
A |
T |
3: 20,304,001 (GRCm39) |
Y354* |
probably null |
Het |
Dip2b |
T |
C |
15: 100,105,719 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
C |
T |
9: 54,311,456 (GRCm39) |
R1755H |
probably damaging |
Het |
Dyrk4 |
G |
T |
6: 126,863,605 (GRCm39) |
|
probably benign |
Het |
E2f7 |
T |
C |
10: 110,590,207 (GRCm39) |
V120A |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,808,420 (GRCm39) |
I1580F |
possibly damaging |
Het |
Gm9755 |
C |
A |
8: 67,967,324 (GRCm39) |
|
noncoding transcript |
Het |
Gprc6a |
T |
G |
10: 51,492,699 (GRCm39) |
N480T |
probably damaging |
Het |
H2ac20 |
C |
T |
3: 96,127,953 (GRCm39) |
A70T |
probably damaging |
Het |
H2-T9 |
C |
T |
17: 36,438,614 (GRCm39) |
G259E |
probably damaging |
Het |
Hdlbp |
T |
C |
1: 93,357,909 (GRCm39) |
I331V |
probably benign |
Het |
Heatr6 |
G |
T |
11: 83,672,271 (GRCm39) |
G1093V |
probably benign |
Het |
Kri1 |
T |
C |
9: 21,193,366 (GRCm39) |
E162G |
probably damaging |
Het |
Nckipsd |
T |
C |
9: 108,688,813 (GRCm39) |
V116A |
probably benign |
Het |
Nek10 |
A |
G |
14: 14,986,686 (GRCm38) |
H997R |
probably benign |
Het |
Nxph1 |
A |
G |
6: 9,247,830 (GRCm39) |
Y267C |
probably damaging |
Het |
Or14a256 |
T |
C |
7: 86,265,286 (GRCm39) |
D189G |
probably benign |
Het |
Or8k40 |
A |
T |
2: 86,584,360 (GRCm39) |
C241S |
probably damaging |
Het |
Ppip5k2 |
A |
T |
1: 97,656,686 (GRCm39) |
V829E |
probably damaging |
Het |
Prkcz |
A |
C |
4: 155,346,963 (GRCm39) |
S573A |
probably benign |
Het |
Prl2c1 |
T |
A |
13: 28,040,612 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
T |
A |
15: 36,015,925 (GRCm39) |
|
probably benign |
Het |
Scn1a |
T |
A |
2: 66,130,057 (GRCm39) |
I1253F |
probably damaging |
Het |
Tarm1 |
A |
G |
7: 3,545,413 (GRCm39) |
C146R |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,930,305 (GRCm39) |
L17Q |
probably damaging |
Het |
Trim45 |
T |
A |
3: 100,830,385 (GRCm39) |
L53Q |
probably damaging |
Het |
Ubr7 |
T |
C |
12: 102,735,414 (GRCm39) |
L291P |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,100,798 (GRCm39) |
V1878A |
probably damaging |
Het |
Wdr90 |
T |
C |
17: 26,064,437 (GRCm39) |
|
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 53,013,811 (GRCm39) |
H42R |
probably benign |
Het |
Zfp750 |
G |
A |
11: 121,403,778 (GRCm39) |
H366Y |
possibly damaging |
Het |
Zmynd11 |
A |
G |
13: 9,739,601 (GRCm39) |
C462R |
probably damaging |
Het |
|
Other mutations in Tor2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01299:Tor2a
|
APN |
2 |
32,649,558 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01551:Tor2a
|
APN |
2 |
32,650,595 (GRCm39) |
intron |
probably benign |
|
IGL02995:Tor2a
|
APN |
2 |
32,651,509 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03001:Tor2a
|
APN |
2 |
32,647,329 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0234:Tor2a
|
UTSW |
2 |
32,648,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Tor2a
|
UTSW |
2 |
32,648,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:Tor2a
|
UTSW |
2 |
32,648,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R4370:Tor2a
|
UTSW |
2 |
32,648,870 (GRCm39) |
missense |
probably benign |
|
R4837:Tor2a
|
UTSW |
2 |
32,650,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R5539:Tor2a
|
UTSW |
2 |
32,650,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R5851:Tor2a
|
UTSW |
2 |
32,651,619 (GRCm39) |
missense |
probably benign |
0.01 |
R5908:Tor2a
|
UTSW |
2 |
32,651,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8393:Tor2a
|
UTSW |
2 |
32,651,648 (GRCm39) |
missense |
probably benign |
0.01 |
R8903:Tor2a
|
UTSW |
2 |
32,651,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |