Incidental Mutation 'IGL01577:Tsga10'
ID |
91287 |
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 # |
IGL01577
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
37793857-37905510 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37874538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 116
(T116A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142218
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041815]
[ENSMUST00000088072]
[ENSMUST00000114902]
[ENSMUST00000123082]
[ENSMUST00000151735]
[ENSMUST00000155852]
[ENSMUST00000193669]
|
AlphaFold |
Q6NY15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041815
AA Change: T116A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000048859 Gene: ENSMUSG00000060771 AA Change: T116A
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: T116A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000085391 Gene: ENSMUSG00000060771 AA Change: T116A
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: T116A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000110552 Gene: ENSMUSG00000060771 AA Change: T116A
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 |
possibly damaging
Transcript: ENSMUST00000123082
AA Change: T116A
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141261 Gene: ENSMUSG00000060771 AA Change: T116A
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 |
157 |
N/A |
INTRINSIC |
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134024
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151735
AA Change: T116A
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120554 Gene: ENSMUSG00000060771 AA Change: T116A
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155852
AA Change: T116A
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141630 Gene: ENSMUSG00000060771 AA Change: T116A
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 |
157 |
N/A |
INTRINSIC |
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193669
AA Change: T116A
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142218 Gene: ENSMUSG00000060771 AA Change: T116A
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 |
157 |
N/A |
INTRINSIC |
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,709,232 (GRCm39) |
T279A |
probably benign |
Het |
Adamts9 |
T |
G |
6: 92,835,128 (GRCm39) |
|
probably benign |
Het |
Apba3 |
G |
A |
10: 81,108,053 (GRCm39) |
G403D |
probably damaging |
Het |
Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,465,085 (GRCm39) |
C1616* |
probably null |
Het |
Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,268,477 (GRCm39) |
I1241T |
possibly damaging |
Het |
Cplx4 |
G |
T |
18: 66,103,015 (GRCm39) |
A35E |
probably damaging |
Het |
Cyp2j8 |
T |
G |
4: 96,367,308 (GRCm39) |
D270A |
probably damaging |
Het |
Cyp7a1 |
T |
C |
4: 6,273,618 (GRCm39) |
D96G |
probably damaging |
Het |
Ddx11 |
G |
A |
17: 66,446,398 (GRCm39) |
R429H |
possibly damaging |
Het |
Depdc5 |
C |
A |
5: 33,113,241 (GRCm39) |
T419N |
possibly damaging |
Het |
Diaph3 |
A |
C |
14: 87,143,467 (GRCm39) |
I737R |
probably damaging |
Het |
Elf2 |
C |
T |
3: 51,163,773 (GRCm39) |
|
probably benign |
Het |
Epha6 |
T |
A |
16: 59,777,289 (GRCm39) |
I673L |
possibly damaging |
Het |
Ephx1 |
A |
G |
1: 180,829,545 (GRCm39) |
M1T |
probably null |
Het |
Fndc3a |
A |
T |
14: 72,827,298 (GRCm39) |
M84K |
probably damaging |
Het |
Gad2 |
T |
C |
2: 22,571,292 (GRCm39) |
|
probably benign |
Het |
Gba2 |
G |
A |
4: 43,573,753 (GRCm39) |
Q180* |
probably null |
Het |
Gga2 |
A |
G |
7: 121,589,006 (GRCm39) |
Y574H |
probably damaging |
Het |
Gm7168 |
A |
T |
17: 14,169,649 (GRCm39) |
R339W |
probably damaging |
Het |
Hdac10 |
T |
C |
15: 89,010,416 (GRCm39) |
E302G |
possibly damaging |
Het |
Ighv1-72 |
A |
G |
12: 115,721,893 (GRCm39) |
V21A |
possibly damaging |
Het |
Kif15 |
A |
G |
9: 122,825,399 (GRCm39) |
E774G |
probably benign |
Het |
Lig3 |
A |
G |
11: 82,674,303 (GRCm39) |
N43S |
probably benign |
Het |
Nmnat1 |
T |
A |
4: 149,554,135 (GRCm39) |
D135V |
possibly damaging |
Het |
Or1s2 |
A |
G |
19: 13,758,162 (GRCm39) |
Y62C |
probably damaging |
Het |
Or52n2 |
A |
G |
7: 104,542,730 (GRCm39) |
F35S |
probably benign |
Het |
Pak6 |
A |
C |
2: 118,524,129 (GRCm39) |
K428T |
probably benign |
Het |
Pou2f3 |
G |
A |
9: 43,058,178 (GRCm39) |
Q56* |
probably null |
Het |
Prep |
T |
C |
10: 44,948,144 (GRCm39) |
|
probably benign |
Het |
Psd4 |
C |
T |
2: 24,293,234 (GRCm39) |
P700S |
probably damaging |
Het |
Rad18 |
A |
T |
6: 112,642,302 (GRCm39) |
|
probably benign |
Het |
Rbbp5 |
A |
G |
1: 132,420,393 (GRCm39) |
K209E |
possibly damaging |
Het |
Smurf1 |
G |
A |
5: 144,829,998 (GRCm39) |
T335I |
probably damaging |
Het |
Tbcd |
G |
A |
11: 121,387,838 (GRCm39) |
R72Q |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,569,127 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
C |
A |
7: 12,865,775 (GRCm39) |
V171F |
probably benign |
Het |
Ythdc2 |
A |
T |
18: 44,991,349 (GRCm39) |
M786L |
probably benign |
Het |
Zmym6 |
C |
A |
4: 126,999,223 (GRCm39) |
T469K |
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 |
|
IGL01727:Tsga10
|
APN |
1 |
37,874,355 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02037:Tsga10
|
APN |
1 |
37,846,098 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
2013-12-09 |