Incidental Mutation 'R2411:Tor1b'
| ID |
249972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tor1b
|
| Ensembl Gene |
ENSMUSG00000026848 |
| Gene Name |
torsin family 1, member B |
| Synonyms |
torsinB, DQ1, 2610016F05Rik |
| MMRRC Submission |
040376-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R2411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30842971-30849027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30845824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 167
(S167I)
|
| 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: S167I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028199
Gene: ENSMUSG00000026848
AA Change: S167I
| 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 |
unknown
Transcript: ENSMUST00000132514
AA Change: E58D
|
| SMART Domains |
Protein: ENSMUSP00000117612
Gene: ENSMUSG00000026848
AA Change: E58D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Torsin
|
1 |
51 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133544
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135507
AA Change: E170D
|
| SMART Domains |
Protein: ENSMUSP00000117888
Gene: ENSMUSG00000026848
AA Change: E170D
| 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: ENSMUST00000155213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195010
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156711
AA Change: E113D
|
| SMART Domains |
Protein: ENSMUSP00000120415
Gene: ENSMUSG00000026848
AA Change: E113D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Torsin
|
1 |
100 |
1.4e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.5873 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (42/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4933402D24Rik |
A |
G |
1: 63,795,373 (GRCm39) |
|
probably benign |
Het |
| 9030612E09Rik |
G |
T |
10: 43,050,796 (GRCm39) |
R30L |
possibly damaging |
Het |
| Aadacl2 |
A |
G |
3: 59,924,844 (GRCm39) |
D137G |
possibly damaging |
Het |
| Acad11 |
T |
G |
9: 103,963,222 (GRCm39) |
|
probably benign |
Het |
| Acap1 |
A |
T |
11: 69,776,311 (GRCm39) |
N229K |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,369,898 (GRCm39) |
T666A |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,391,954 (GRCm39) |
F160L |
probably damaging |
Het |
| Clock |
A |
C |
5: 76,379,360 (GRCm39) |
H525Q |
probably benign |
Het |
| Col6a1 |
G |
T |
10: 76,546,922 (GRCm39) |
Q767K |
unknown |
Het |
| Creld1 |
A |
G |
6: 113,466,737 (GRCm39) |
H240R |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,932,755 (GRCm39) |
|
probably null |
Het |
| Fam204a |
A |
T |
19: 60,187,870 (GRCm39) |
*237R |
probably null |
Het |
| Filip1 |
T |
A |
9: 79,805,715 (GRCm39) |
N13I |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,499,206 (GRCm39) |
A19S |
probably benign |
Het |
| Hddc3 |
A |
T |
7: 79,993,341 (GRCm39) |
Q56L |
probably damaging |
Het |
| Hes6 |
A |
C |
1: 91,340,986 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
A |
G |
3: 95,487,326 (GRCm39) |
D270G |
probably benign |
Het |
| Ifitm1 |
A |
G |
7: 140,549,711 (GRCm39) |
|
probably null |
Het |
| Igbp1b |
A |
C |
6: 138,634,871 (GRCm39) |
V191G |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,072,517 (GRCm39) |
N316K |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,914,453 (GRCm39) |
Y566C |
probably damaging |
Het |
| Map4k4 |
A |
G |
1: 40,046,656 (GRCm39) |
D775G |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,155,662 (GRCm39) |
R864W |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,391,995 (GRCm39) |
P810Q |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,290 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or1ad1 |
A |
G |
11: 50,875,758 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a27 |
C |
T |
2: 88,559,741 (GRCm39) |
M67I |
probably benign |
Het |
| Ppp2r3c |
T |
C |
12: 55,345,269 (GRCm39) |
K73R |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,498,780 (GRCm39) |
F1311Y |
probably damaging |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,379,497 (GRCm39) |
E1104G |
possibly damaging |
Het |
| St14 |
G |
A |
9: 31,019,530 (GRCm39) |
T97I |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,281,290 (GRCm39) |
|
probably benign |
Het |
| Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,359 (GRCm39) |
E27511D |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,306,258 (GRCm39) |
|
probably benign |
Het |
| Vmn1r10 |
G |
T |
6: 57,091,124 (GRCm39) |
V239F |
probably benign |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zfp160 |
C |
T |
17: 21,246,007 (GRCm39) |
R186C |
possibly damaging |
Het |
| Zfp869 |
A |
G |
8: 70,159,179 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,782 (GRCm39) |
K6E |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGTGGCTGTACACAGAGG -3'
(R):5'- TCCCCAAGAAGCCTTGTTG -3'
Sequencing Primer
(F):5'- TCCCAGGGATTCAAGTCAAGTG -3'
(R):5'- TTGGCTGACCTGAGGAAGATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation