Incidental Mutation 'IGL02510:Tsga10'
ID |
296508 |
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: 0.097)
|
Stock # |
IGL02510
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
37793857-37905510 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37800066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 608
(R608Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085391
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041815]
[ENSMUST00000088072]
[ENSMUST00000114902]
|
AlphaFold |
Q6NY15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041815
AA Change: R678Q
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000048859 Gene: ENSMUSG00000060771 AA Change: R678Q
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: ENSMUST00000088072
AA Change: R608Q
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000085391 Gene: ENSMUSG00000060771 AA Change: R608Q
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: R678Q
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110552 Gene: ENSMUSG00000060771 AA Change: R678Q
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts4 |
G |
A |
1: 171,078,959 (GRCm39) |
S193N |
probably benign |
Het |
Arrdc1 |
C |
A |
2: 24,825,112 (GRCm39) |
V16F |
probably damaging |
Het |
Bhmt1b |
A |
G |
18: 87,775,653 (GRCm39) |
Q392R |
probably benign |
Het |
Bsx |
A |
T |
9: 40,785,517 (GRCm39) |
Q15L |
possibly damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,639,704 (GRCm39) |
T253A |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,902,097 (GRCm39) |
L102P |
probably damaging |
Het |
Cgnl1 |
G |
T |
9: 71,632,639 (GRCm39) |
N237K |
probably benign |
Het |
Cldn14 |
T |
A |
16: 93,716,844 (GRCm39) |
M1L |
probably damaging |
Het |
Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
Col7a1 |
C |
A |
9: 108,802,299 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dhrs2 |
G |
A |
14: 55,473,532 (GRCm39) |
V64M |
probably damaging |
Het |
Disp3 |
G |
A |
4: 148,337,158 (GRCm39) |
H886Y |
probably benign |
Het |
Dst |
G |
A |
1: 34,268,332 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
T |
C |
2: 90,581,819 (GRCm39) |
V215A |
probably benign |
Het |
Fzd9 |
A |
G |
5: 135,278,469 (GRCm39) |
L472P |
probably damaging |
Het |
Hpd |
C |
T |
5: 123,319,973 (GRCm39) |
R15Q |
possibly damaging |
Het |
Htra2 |
A |
G |
6: 83,028,592 (GRCm39) |
V412A |
probably damaging |
Het |
Ift80 |
A |
G |
3: 68,805,876 (GRCm39) |
F722S |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,723,154 (GRCm39) |
T741A |
probably benign |
Het |
Kl |
A |
C |
5: 150,912,466 (GRCm39) |
E738D |
probably damaging |
Het |
Klra4 |
T |
A |
6: 130,036,506 (GRCm39) |
I178L |
probably damaging |
Het |
Klra9 |
T |
C |
6: 130,168,185 (GRCm39) |
E27G |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,957,125 (GRCm39) |
Y2145H |
probably benign |
Het |
Mbd5 |
T |
A |
2: 49,147,041 (GRCm39) |
M417K |
probably benign |
Het |
Med31 |
C |
T |
11: 72,102,882 (GRCm39) |
M75I |
probably benign |
Het |
Mpeg1 |
A |
T |
19: 12,438,788 (GRCm39) |
D82V |
probably damaging |
Het |
Msto1 |
A |
G |
3: 88,817,652 (GRCm39) |
Y439H |
probably damaging |
Het |
Or1e17 |
G |
A |
11: 73,831,831 (GRCm39) |
G253E |
probably damaging |
Het |
Or1j15 |
T |
C |
2: 36,458,693 (GRCm39) |
S28P |
possibly damaging |
Het |
Or2av9 |
T |
C |
11: 58,381,365 (GRCm39) |
Y72C |
probably damaging |
Het |
Or5p64 |
T |
A |
7: 107,855,348 (GRCm39) |
|
probably benign |
Het |
Prtg |
G |
A |
9: 72,798,151 (GRCm39) |
V706M |
probably damaging |
Het |
Sfxn2 |
G |
T |
19: 46,576,711 (GRCm39) |
A186S |
probably benign |
Het |
Slc12a5 |
A |
T |
2: 164,824,728 (GRCm39) |
|
probably benign |
Het |
Slc7a3 |
T |
C |
X: 100,126,439 (GRCm39) |
E222G |
probably benign |
Het |
Stox1 |
A |
T |
10: 62,499,826 (GRCm39) |
H911Q |
probably benign |
Het |
Sult3a2 |
A |
T |
10: 33,642,435 (GRCm39) |
N289K |
probably benign |
Het |
Supt20 |
A |
G |
3: 54,622,945 (GRCm39) |
|
probably benign |
Het |
Tchh |
A |
G |
3: 93,351,385 (GRCm39) |
E275G |
unknown |
Het |
Tectb |
A |
T |
19: 55,179,943 (GRCm39) |
N263I |
probably damaging |
Het |
Ttyh3 |
A |
G |
5: 140,615,219 (GRCm39) |
Y390H |
probably damaging |
Het |
Utf1 |
C |
A |
7: 139,523,929 (GRCm39) |
S48* |
probably null |
Het |
Zfp358 |
G |
A |
8: 3,546,786 (GRCm39) |
G456D |
probably benign |
Het |
Zup1 |
A |
G |
10: 33,806,150 (GRCm39) |
|
probably null |
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 |
IGL02037:Tsga10
|
APN |
1 |
37,846,098 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
2015-04-16 |