Incidental Mutation 'IGL02881:Tor1b'
| ID |
362818 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tor1b
|
| Ensembl Gene |
ENSMUSG00000026848 |
| Gene Name |
torsin family 1, member B |
| Synonyms |
torsinB, DQ1, 2610016F05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
IGL02881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30842971-30849027 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 30843865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 47
(K47*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028199]
[ENSMUST00000135507]
[ENSMUST00000156711]
|
| AlphaFold |
Q9ER41 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028199
AA Change: K101*
|
| SMART Domains |
Protein: ENSMUSP00000028199
Gene: ENSMUSG00000026848
AA Change: K101*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
AAA
|
101 |
244 |
1.64e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132514
AA Change: K34*
|
| SMART Domains |
Protein: ENSMUSP00000117612
Gene: ENSMUSG00000026848
AA Change: K34*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Torsin
|
1 |
51 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133544
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135507
AA Change: K101*
|
| SMART Domains |
Protein: ENSMUSP00000117888
Gene: ENSMUSG00000026848
AA Change: K101*
| 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: ENSMUST00000155213
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156711
AA Change: K47*
|
| SMART Domains |
Protein: ENSMUSP00000120415
Gene: ENSMUSG00000026848
AA Change: K47*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Torsin
|
1 |
100 |
1.4e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195010
|
| 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 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
A |
8: 13,605,999 (GRCm39) |
|
probably benign |
Het |
| Aatf |
A |
G |
11: 84,362,115 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,966,548 (GRCm39) |
H542L |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,761,753 (GRCm39) |
L389H |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,932,944 (GRCm39) |
E3605K |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,282,516 (GRCm39) |
T347M |
probably damaging |
Het |
| Glul |
C |
A |
1: 153,782,862 (GRCm39) |
T191K |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,821,689 (GRCm39) |
L125Q |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,118 (GRCm39) |
I976T |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,740,275 (GRCm39) |
T462A |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,410,233 (GRCm39) |
R60S |
possibly damaging |
Het |
| Mrpl10 |
T |
A |
11: 96,937,899 (GRCm39) |
V89D |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,411,449 (GRCm39) |
T1465I |
unknown |
Het |
| Myh15 |
A |
C |
16: 48,937,628 (GRCm39) |
D743A |
possibly damaging |
Het |
| Noxo1 |
C |
A |
17: 24,918,409 (GRCm39) |
L190I |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,410 (GRCm39) |
L190Q |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or2aj5 |
A |
T |
16: 19,425,050 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or4c121 |
T |
A |
2: 89,023,985 (GRCm39) |
Y131F |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,460 (GRCm39) |
S64G |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,057 (GRCm39) |
V273A |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,364 (GRCm39) |
T131A |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,466,829 (GRCm39) |
|
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,759,878 (GRCm39) |
D363G |
probably benign |
Het |
| Prpf6 |
C |
T |
2: 181,273,864 (GRCm39) |
T336I |
probably benign |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Sae1 |
T |
G |
7: 16,093,043 (GRCm39) |
K221N |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,987 (GRCm39) |
K299R |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,917,969 (GRCm39) |
R636G |
probably benign |
Het |
| Smad2 |
C |
A |
18: 76,432,851 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 94,777,306 (GRCm39) |
F152S |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,365 (GRCm39) |
C276Y |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,740,147 (GRCm39) |
V3464A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,550,945 (GRCm39) |
T870A |
possibly damaging |
Het |
| Zscan25 |
T |
G |
5: 145,227,296 (GRCm39) |
L320R |
probably benign |
Het |
|
| Other mutations in Tor1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4087:Tor1b
|
UTSW |
2 |
30,846,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation