Incidental Mutation 'R3758:Tor1aip2'
| ID |
271505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tor1aip2
|
| Ensembl Gene |
ENSMUSG00000050565 |
| Gene Name |
torsin A interacting protein 2 |
| Synonyms |
15kDa, 1110020D10Rik, Ifrg15, LULL1 |
| MMRRC Submission |
040739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R3758 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155911410-155944607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155941035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 447
(E447G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060404]
[ENSMUST00000111757]
|
| AlphaFold |
Q8BYU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060404
AA Change: E447G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565
AA Change: E447G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LAP1C
|
26 |
501 |
3.9e-222 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111757
AA Change: E447G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565
AA Change: E447G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LAP1C
|
26 |
501 |
3.9e-169 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125371
|
| Meta Mutation Damage Score |
0.5981 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
93% (28/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,146,354 (GRCm39) |
|
probably benign |
Het |
| Bcat1 |
T |
A |
6: 144,978,598 (GRCm39) |
I208F |
probably damaging |
Het |
| Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
| Cd200r3 |
T |
G |
16: 44,784,991 (GRCm39) |
|
probably null |
Het |
| Coq8b |
C |
T |
7: 26,941,652 (GRCm39) |
Q246* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,233,363 (GRCm39) |
S616P |
probably damaging |
Het |
| Fkbp10 |
G |
A |
11: 100,313,451 (GRCm39) |
|
probably null |
Het |
| Gabra1 |
G |
T |
11: 42,066,763 (GRCm39) |
D50E |
probably benign |
Het |
| H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,406 (GRCm39) |
N103S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,053,314 (GRCm39) |
H2549R |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,602 (GRCm39) |
N706D |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,996,628 (GRCm39) |
|
probably null |
Het |
| Mtcl2 |
T |
C |
2: 156,862,558 (GRCm39) |
N1457S |
possibly damaging |
Het |
| Nipa2 |
T |
C |
7: 55,585,689 (GRCm39) |
Y102C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,631,641 (GRCm39) |
C32* |
probably null |
Het |
| Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,916 (GRCm39) |
F105L |
probably benign |
Het |
| Or52r1b |
A |
G |
7: 102,691,177 (GRCm39) |
S159G |
probably benign |
Het |
| Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,476,079 (GRCm39) |
D405G |
possibly damaging |
Het |
| Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,219,571 (GRCm39) |
Y166C |
probably damaging |
Het |
| Sprr1a |
T |
G |
3: 92,391,704 (GRCm39) |
K99T |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,877,924 (GRCm39) |
V133A |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,915,768 (GRCm39) |
T391A |
probably benign |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
Het |
|
| Other mutations in Tor1aip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01812:Tor1aip2
|
APN |
1 |
155,935,285 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02175:Tor1aip2
|
APN |
1 |
155,940,752 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02328:Tor1aip2
|
APN |
1 |
155,940,720 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0143:Tor1aip2
|
UTSW |
1 |
155,935,294 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1037:Tor1aip2
|
UTSW |
1 |
155,941,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1146:Tor1aip2
|
UTSW |
1 |
155,940,483 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1146:Tor1aip2
|
UTSW |
1 |
155,940,483 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1694:Tor1aip2
|
UTSW |
1 |
155,941,031 (GRCm39) |
missense |
probably benign |
|
|
R1922:Tor1aip2
|
UTSW |
1 |
155,940,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Tor1aip2
|
UTSW |
1 |
155,927,588 (GRCm39) |
intron |
probably benign |
|
|
R2131:Tor1aip2
|
UTSW |
1 |
155,941,095 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4243:Tor1aip2
|
UTSW |
1 |
155,941,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4583:Tor1aip2
|
UTSW |
1 |
155,940,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4678:Tor1aip2
|
UTSW |
1 |
155,940,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5564:Tor1aip2
|
UTSW |
1 |
155,939,307 (GRCm39) |
unclassified |
probably benign |
|
|
R6316:Tor1aip2
|
UTSW |
1 |
155,937,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6713:Tor1aip2
|
UTSW |
1 |
155,941,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6892:Tor1aip2
|
UTSW |
1 |
155,940,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7137:Tor1aip2
|
UTSW |
1 |
155,927,722 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8137:Tor1aip2
|
UTSW |
1 |
155,939,414 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9456:Tor1aip2
|
UTSW |
1 |
155,937,525 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1176:Tor1aip2
|
UTSW |
1 |
155,927,935 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGACACAGTCAAGCTG -3'
(R):5'- CTTCACAAAAGGCAGCCTCG -3'
Sequencing Primer
(F):5'- CGATGGGTTTGAGAATGGCCAC -3'
(R):5'- AAAGGCAGCCTCGCTCTTCTATG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation