Incidental Mutation 'R2958:Tor4a'
| ID |
263261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tor4a
|
| Ensembl Gene |
ENSMUSG00000059555 |
| Gene Name |
torsin family 4, member A |
| Synonyms |
A830007P12Rik |
| MMRRC Submission |
040519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R2958 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25082978-25086898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25084980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 308
(Q308K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059849]
[ENSMUST00000081869]
[ENSMUST00000137920]
[ENSMUST00000142857]
|
| AlphaFold |
Q8BH02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059849
|
| SMART Domains |
Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COBRA1
|
107 |
578 |
3.5e-248 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081869
AA Change: Q308K
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080548
Gene: ENSMUSG00000059555
AA Change: Q308K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
93 |
N/A |
INTRINSIC |
|
AAA
|
181 |
317 |
3.74e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142857
|
| SMART Domains |
Protein: ENSMUSP00000142048
Gene: ENSMUSG00000059555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Torsin
|
1 |
86 |
4.2e-9 |
PFAM |
|
Pfam:AAA_22
|
12 |
112 |
6.7e-8 |
PFAM |
|
Pfam:AAA_17
|
18 |
111 |
2.4e-7 |
PFAM |
|
Pfam:AAA
|
19 |
110 |
3.1e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205741
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
T |
A |
18: 36,767,782 (GRCm39) |
L1233Q |
probably damaging |
Het |
| Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
| Cep78 |
C |
A |
19: 15,956,273 (GRCm39) |
R222L |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,842,437 (GRCm39) |
I220M |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lhx5 |
A |
G |
5: 120,573,542 (GRCm39) |
N175S |
probably benign |
Het |
| Nrg3 |
G |
T |
14: 39,194,669 (GRCm39) |
A30E |
unknown |
Het |
| Numa1 |
C |
A |
7: 101,658,702 (GRCm39) |
R1663S |
possibly damaging |
Het |
| Nwd2 |
G |
A |
5: 63,963,325 (GRCm39) |
V970I |
probably benign |
Het |
| Or51ah3 |
T |
C |
7: 103,210,512 (GRCm39) |
V276A |
possibly damaging |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Tdrd9 |
T |
C |
12: 112,008,106 (GRCm39) |
V982A |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
|
| Other mutations in Tor4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02138:Tor4a
|
APN |
2 |
25,084,810 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02813:Tor4a
|
APN |
2 |
25,084,761 (GRCm39) |
nonsense |
probably null |
|
|
R1486:Tor4a
|
UTSW |
2 |
25,084,691 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1916:Tor4a
|
UTSW |
2 |
25,085,414 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5237:Tor4a
|
UTSW |
2 |
25,084,976 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5356:Tor4a
|
UTSW |
2 |
25,085,918 (GRCm39) |
splice site |
probably null |
|
|
R5694:Tor4a
|
UTSW |
2 |
25,084,932 (GRCm39) |
missense |
probably benign |
|
|
R5874:Tor4a
|
UTSW |
2 |
25,084,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Tor4a
|
UTSW |
2 |
25,084,794 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6407:Tor4a
|
UTSW |
2 |
25,084,952 (GRCm39) |
missense |
probably benign |
|
|
R7056:Tor4a
|
UTSW |
2 |
25,084,853 (GRCm39) |
missense |
probably benign |
|
|
R7498:Tor4a
|
UTSW |
2 |
25,085,804 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7590:Tor4a
|
UTSW |
2 |
25,085,810 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8866:Tor4a
|
UTSW |
2 |
25,084,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8936:Tor4a
|
UTSW |
2 |
25,085,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9206:Tor4a
|
UTSW |
2 |
25,084,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9242:Tor4a
|
UTSW |
2 |
25,085,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCGGCTTGTCCAGTAG -3'
(R):5'- GATATCACTGTCCAGAGCCACG -3'
Sequencing Primer
(F):5'- CTTGTCCAGTAGCAGGAAGGGC -3'
(R):5'- GTTCAGGACTGCCGGAAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation