Incidental Mutation 'R3858:Tor3a'
| ID |
276241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tor3a
|
| Ensembl Gene |
ENSMUSG00000060519 |
| Gene Name |
torsin family 3, member A |
| Synonyms |
Adir |
| MMRRC Submission |
040786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R3858 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156481187-156501909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156497124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 140
(L140F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079625]
[ENSMUST00000122242]
[ENSMUST00000150557]
[ENSMUST00000156861]
[ENSMUST00000188964]
[ENSMUST00000190607]
|
| AlphaFold |
Q9ER38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079625
AA Change: L140F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078572
Gene: ENSMUSG00000060519
AA Change: L140F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
93 |
222 |
1.1e-60 |
PFAM |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122242
AA Change: L140F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113984
Gene: ENSMUSG00000060519
AA Change: L140F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
93 |
222 |
1.1e-60 |
PFAM |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150557
AA Change: L140F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137828
Gene: ENSMUSG00000060519
AA Change: L140F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
93 |
206 |
2.3e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152604
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156861
|
| SMART Domains |
Protein: ENSMUSP00000140808
Gene: ENSMUSG00000060519
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188964
AA Change: L140F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140079
Gene: ENSMUSG00000060519
AA Change: L140F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
93 |
222 |
1.1e-60 |
PFAM |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190607
|
| SMART Domains |
Protein: ENSMUSP00000140129
Gene: ENSMUSG00000060519
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3933 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,863,581 (GRCm39) |
S179T |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
| Ccdc82 |
G |
A |
9: 13,251,704 (GRCm39) |
|
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
| Cd2ap |
G |
A |
17: 43,127,463 (GRCm39) |
Q377* |
probably null |
Het |
| Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,769,808 (GRCm39) |
L167S |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
| Irs4 |
T |
C |
X: 140,507,059 (GRCm39) |
E379G |
probably damaging |
Het |
| Kcnmb2 |
T |
C |
3: 32,252,450 (GRCm39) |
V217A |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,408,907 (GRCm39) |
|
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,798,409 (GRCm39) |
C757S |
possibly damaging |
Het |
| Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,648,117 (GRCm39) |
L2* |
probably null |
Het |
| Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
| Pirb |
T |
C |
7: 3,720,662 (GRCm39) |
K279E |
possibly damaging |
Het |
| Pmp22 |
T |
C |
11: 63,025,301 (GRCm39) |
S45P |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Reck |
A |
G |
4: 43,930,261 (GRCm39) |
T612A |
probably benign |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,835,985 (GRCm39) |
I868T |
probably damaging |
Het |
| Slc23a3 |
A |
G |
1: 75,106,040 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
| Vcf2 |
T |
C |
X: 149,203,357 (GRCm39) |
Q39R |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,291,594 (GRCm39) |
M57T |
probably benign |
Het |
| Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
probably damaging |
Het |
|
| Other mutations in Tor3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02173:Tor3a
|
APN |
1 |
156,501,776 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03268:Tor3a
|
APN |
1 |
156,497,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2943:Tor3a
|
UTSW |
1 |
156,501,665 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4996:Tor3a
|
UTSW |
1 |
156,483,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5204:Tor3a
|
UTSW |
1 |
156,483,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5352:Tor3a
|
UTSW |
1 |
156,501,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Tor3a
|
UTSW |
1 |
156,501,137 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5653:Tor3a
|
UTSW |
1 |
156,484,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:Tor3a
|
UTSW |
1 |
156,484,057 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6170:Tor3a
|
UTSW |
1 |
156,484,143 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7674:Tor3a
|
UTSW |
1 |
156,483,478 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8833:Tor3a
|
UTSW |
1 |
156,483,373 (GRCm39) |
missense |
probably benign |
|
|
R9509:Tor3a
|
UTSW |
1 |
156,483,499 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9644:Tor3a
|
UTSW |
1 |
156,501,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9743:Tor3a
|
UTSW |
1 |
156,501,103 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1177:Tor3a
|
UTSW |
1 |
156,501,800 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACGTGTCCACATACTTGG -3'
(R):5'- AACCGAACATCCTCTGCTCTG -3'
Sequencing Primer
(F):5'- CCACATACTTGGGGTGTGGAAAG -3'
(R):5'- TTGCTCTGAGGCCACAAGGATC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation