Incidental Mutation 'R4087:Tor1b'
| ID |
317406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tor1b
|
| Ensembl Gene |
ENSMUSG00000026848 |
| Gene Name |
torsin family 1, member B |
| Synonyms |
torsinB, DQ1, 2610016F05Rik |
| MMRRC Submission |
040980-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R4087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30842971-30849027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30846531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 238
(I238N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028199]
[ENSMUST00000028200]
[ENSMUST00000135507]
[ENSMUST00000156711]
|
| AlphaFold |
Q9ER41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028199
AA Change: I238N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028199
Gene: ENSMUSG00000026848
AA Change: I238N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
AAA
|
101 |
244 |
1.64e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028200
|
| SMART Domains |
Protein: ENSMUSP00000028200
Gene: ENSMUSG00000026849
| 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 |
probably benign
Transcript: ENSMUST00000132514
|
| SMART Domains |
Protein: ENSMUSP00000117612
Gene: ENSMUSG00000026848
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Torsin
|
1 |
51 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133544
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135507
|
| SMART Domains |
Protein: ENSMUSP00000117888
Gene: ENSMUSG00000026848
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
51 |
163 |
7.5e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155213
|
| 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 |
|
| Meta Mutation Damage Score |
0.7848 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
96% (50/52) |
| 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 an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
| Col6a6 |
A |
T |
9: 105,661,155 (GRCm39) |
I318N |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Dym |
T |
A |
18: 75,363,172 (GRCm39) |
Y559N |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,248 (GRCm39) |
V59A |
possibly damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,227,333 (GRCm39) |
R697Q |
probably damaging |
Het |
| Fermt3 |
T |
A |
19: 6,980,945 (GRCm39) |
|
probably null |
Het |
| Git2 |
A |
G |
5: 114,902,466 (GRCm39) |
Y189H |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm7713 |
C |
T |
15: 59,866,258 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,691 (GRCm39) |
Q925* |
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,110,428 (GRCm39) |
I213T |
possibly damaging |
Het |
| Lpgat1 |
A |
T |
1: 191,495,728 (GRCm39) |
I306F |
possibly damaging |
Het |
| Mapk8 |
T |
C |
14: 33,112,205 (GRCm39) |
T228A |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,205,342 (GRCm39) |
V2101A |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,375,771 (GRCm39) |
K19E |
possibly damaging |
Het |
| Mta1 |
A |
G |
12: 113,075,802 (GRCm39) |
Y22C |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,377,087 (GRCm39) |
T273A |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,803,409 (GRCm39) |
W1443R |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,134,697 (GRCm39) |
D32V |
probably damaging |
Het |
| Or8k36-ps1 |
C |
A |
2: 86,437,297 (GRCm39) |
*206L |
probably null |
Het |
| Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
| Rnf144a |
C |
T |
12: 26,377,591 (GRCm39) |
V51I |
probably damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,552,256 (GRCm39) |
T682S |
probably damaging |
Het |
| Sertad2 |
GCCCC |
GCCCCC |
11: 20,598,664 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 111,979,920 (GRCm39) |
Q256* |
probably null |
Het |
| Tmprss11d |
A |
T |
5: 86,457,138 (GRCm39) |
S174T |
probably damaging |
Het |
| Tppp2 |
T |
C |
14: 52,156,957 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,350,651 (GRCm39) |
N46S |
possibly damaging |
Het |
| Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,357,380 (GRCm39) |
|
probably null |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
|
| Other mutations in Tor1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02881:Tor1b
|
APN |
2 |
30,843,865 (GRCm39) |
nonsense |
probably null |
|
|
R0666:Tor1b
|
UTSW |
2 |
30,843,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0866:Tor1b
|
UTSW |
2 |
30,846,928 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1449:Tor1b
|
UTSW |
2 |
30,845,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1962:Tor1b
|
UTSW |
2 |
30,846,931 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2411:Tor1b
|
UTSW |
2 |
30,845,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4868:Tor1b
|
UTSW |
2 |
30,846,589 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5454:Tor1b
|
UTSW |
2 |
30,846,957 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5455:Tor1b
|
UTSW |
2 |
30,846,957 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9233:Tor1b
|
UTSW |
2 |
30,844,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9516:Tor1b
|
UTSW |
2 |
30,843,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTTTACCAGGCACAGGAC -3'
(R):5'- TGTGCCCTCAAAATACCCTAAG -3'
Sequencing Primer
(F):5'- GGTCAGTTCTAGCCTTGAGAAG -3'
(R):5'- TAAGAAATCTCCCTGTGGCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation