Incidental Mutation 'IGL02037:Tsga10'
ID |
184554 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tsga10
|
Ensembl Gene |
ENSMUSG00000060771 |
Gene Name |
testis specific 10 |
Synonyms |
Mtsga10, 4933432N21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL02037
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
37793857-37905510 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37846098 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 343
(I343V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041815]
[ENSMUST00000088072]
[ENSMUST00000114902]
[ENSMUST00000151735]
|
AlphaFold |
Q6NY15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041815
AA Change: I343V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000048859 Gene: ENSMUSG00000060771 AA Change: I343V
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
coiled coil region
|
24 |
85 |
N/A |
INTRINSIC |
coiled coil region
|
110 |
249 |
N/A |
INTRINSIC |
Blast:SPEC
|
294 |
391 |
5e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088072
AA Change: I343V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000085391 Gene: ENSMUSG00000060771 AA Change: I343V
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
coiled coil region
|
24 |
85 |
N/A |
INTRINSIC |
coiled coil region
|
110 |
249 |
N/A |
INTRINSIC |
Blast:SPEC
|
294 |
391 |
5e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114902
AA Change: I343V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000110552 Gene: ENSMUSG00000060771 AA Change: I343V
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
coiled coil region
|
24 |
85 |
N/A |
INTRINSIC |
coiled coil region
|
110 |
249 |
N/A |
INTRINSIC |
Blast:SPEC
|
294 |
391 |
5e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151735
|
SMART Domains |
Protein: ENSMUSP00000120554 Gene: ENSMUSG00000060771
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
coiled coil region
|
24 |
85 |
N/A |
INTRINSIC |
coiled coil region
|
110 |
229 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
T |
A |
6: 92,804,997 (GRCm39) |
|
probably benign |
Het |
Ace2 |
T |
A |
X: 162,946,996 (GRCm39) |
V293D |
probably damaging |
Het |
Adgrg6 |
T |
C |
10: 14,317,185 (GRCm39) |
Y545C |
probably damaging |
Het |
Arhgap40 |
A |
G |
2: 158,376,742 (GRCm39) |
T293A |
probably damaging |
Het |
Arhgef19 |
A |
G |
4: 140,973,707 (GRCm39) |
T65A |
probably damaging |
Het |
Brf1 |
A |
G |
12: 112,956,682 (GRCm39) |
|
probably null |
Het |
Cbfb |
T |
C |
8: 105,905,252 (GRCm39) |
S65P |
possibly damaging |
Het |
Chsy1 |
T |
C |
7: 65,821,576 (GRCm39) |
S604P |
possibly damaging |
Het |
Ckmt1 |
T |
C |
2: 121,191,643 (GRCm39) |
V271A |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,371,263 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,038,559 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,410,007 (GRCm39) |
T492A |
probably benign |
Het |
Fam3a |
G |
A |
X: 73,430,241 (GRCm39) |
T156I |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,229,087 (GRCm39) |
C708S |
probably damaging |
Het |
Fgf5 |
G |
A |
5: 98,409,831 (GRCm39) |
G127R |
probably damaging |
Het |
Fhip1a |
T |
G |
3: 85,637,939 (GRCm39) |
K120T |
probably damaging |
Het |
Fn3k |
A |
T |
11: 121,325,909 (GRCm39) |
Y32F |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,338,118 (GRCm39) |
I137T |
probably benign |
Het |
Hc |
T |
C |
2: 34,903,531 (GRCm39) |
D1041G |
probably benign |
Het |
Heatr6 |
T |
A |
11: 83,655,708 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
G |
A |
13: 42,309,553 (GRCm39) |
A598T |
probably benign |
Het |
Ifngr1 |
T |
C |
10: 19,483,007 (GRCm39) |
S254P |
probably benign |
Het |
Kel |
T |
C |
6: 41,674,408 (GRCm39) |
S341G |
probably benign |
Het |
Klra6 |
A |
C |
6: 129,990,439 (GRCm39) |
M224R |
probably benign |
Het |
Mis18bp1 |
A |
G |
12: 65,183,522 (GRCm39) |
|
probably null |
Het |
Mpeg1 |
C |
T |
19: 12,440,660 (GRCm39) |
T706I |
probably benign |
Het |
Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
Or5al7 |
G |
T |
2: 85,993,181 (GRCm39) |
F37L |
probably benign |
Het |
Palld |
T |
C |
8: 61,978,148 (GRCm39) |
R881G |
probably damaging |
Het |
Pdha2 |
A |
T |
3: 140,916,662 (GRCm39) |
V282E |
probably damaging |
Het |
Pga5 |
C |
T |
19: 10,654,065 (GRCm39) |
R46Q |
probably benign |
Het |
Plekhg2 |
T |
C |
7: 28,068,122 (GRCm39) |
Y189C |
probably damaging |
Het |
Rnf43 |
A |
G |
11: 87,622,479 (GRCm39) |
T527A |
probably benign |
Het |
Rplp0 |
G |
A |
5: 115,699,174 (GRCm39) |
R73Q |
probably benign |
Het |
Smco3 |
A |
G |
6: 136,808,197 (GRCm39) |
*226R |
probably null |
Het |
Sugp2 |
T |
C |
8: 70,712,324 (GRCm39) |
|
probably benign |
Het |
Ube2q2 |
A |
G |
9: 55,075,502 (GRCm39) |
K104E |
probably damaging |
Het |
Ube3a |
C |
T |
7: 58,925,506 (GRCm39) |
|
probably benign |
Het |
Usp11 |
T |
C |
X: 20,585,381 (GRCm39) |
I785T |
probably damaging |
Het |
Vmn2r22 |
A |
T |
6: 123,626,026 (GRCm39) |
C137S |
probably damaging |
Het |
Zfp281 |
T |
C |
1: 136,555,185 (GRCm39) |
V721A |
possibly damaging |
Het |
Zfp946 |
T |
C |
17: 22,672,469 (GRCm39) |
S23P |
probably damaging |
Het |
Zfyve1 |
A |
G |
12: 83,594,694 (GRCm39) |
V766A |
probably damaging |
Het |
|
Other mutations in Tsga10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00573:Tsga10
|
APN |
1 |
37,846,151 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00579:Tsga10
|
APN |
1 |
37,874,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00837:Tsga10
|
APN |
1 |
37,840,992 (GRCm39) |
splice site |
probably benign |
|
IGL01577:Tsga10
|
APN |
1 |
37,874,538 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01727:Tsga10
|
APN |
1 |
37,874,355 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02510:Tsga10
|
APN |
1 |
37,800,066 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0346:Tsga10
|
UTSW |
1 |
37,879,600 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0789:Tsga10
|
UTSW |
1 |
37,840,868 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0961:Tsga10
|
UTSW |
1 |
37,800,509 (GRCm39) |
critical splice donor site |
probably null |
|
R1370:Tsga10
|
UTSW |
1 |
37,874,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Tsga10
|
UTSW |
1 |
37,858,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Tsga10
|
UTSW |
1 |
37,874,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Tsga10
|
UTSW |
1 |
37,854,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R3104:Tsga10
|
UTSW |
1 |
37,840,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R3105:Tsga10
|
UTSW |
1 |
37,840,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R3106:Tsga10
|
UTSW |
1 |
37,840,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R3824:Tsga10
|
UTSW |
1 |
37,873,278 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3825:Tsga10
|
UTSW |
1 |
37,873,278 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4560:Tsga10
|
UTSW |
1 |
37,846,163 (GRCm39) |
missense |
probably benign |
0.00 |
R4773:Tsga10
|
UTSW |
1 |
37,874,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R4927:Tsga10
|
UTSW |
1 |
37,840,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R5036:Tsga10
|
UTSW |
1 |
37,823,049 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5326:Tsga10
|
UTSW |
1 |
37,800,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R5345:Tsga10
|
UTSW |
1 |
37,802,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R5503:Tsga10
|
UTSW |
1 |
37,800,028 (GRCm39) |
makesense |
probably null |
|
R5542:Tsga10
|
UTSW |
1 |
37,800,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R5793:Tsga10
|
UTSW |
1 |
37,874,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R6340:Tsga10
|
UTSW |
1 |
37,874,266 (GRCm39) |
intron |
probably benign |
|
R7096:Tsga10
|
UTSW |
1 |
37,879,695 (GRCm39) |
missense |
probably damaging |
0.98 |
R7130:Tsga10
|
UTSW |
1 |
37,822,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R7401:Tsga10
|
UTSW |
1 |
37,873,268 (GRCm39) |
missense |
probably null |
1.00 |
R7609:Tsga10
|
UTSW |
1 |
37,843,974 (GRCm39) |
splice site |
probably null |
|
R7649:Tsga10
|
UTSW |
1 |
37,874,229 (GRCm39) |
missense |
unknown |
|
R7773:Tsga10
|
UTSW |
1 |
37,874,323 (GRCm39) |
missense |
unknown |
|
R8242:Tsga10
|
UTSW |
1 |
37,846,182 (GRCm39) |
missense |
probably benign |
0.28 |
R8379:Tsga10
|
UTSW |
1 |
37,840,959 (GRCm39) |
missense |
probably benign |
0.00 |
R9205:Tsga10
|
UTSW |
1 |
37,880,359 (GRCm39) |
start gained |
probably benign |
|
R9252:Tsga10
|
UTSW |
1 |
37,873,364 (GRCm39) |
missense |
probably benign |
0.35 |
|
Posted On |
2014-05-07 |