Incidental Mutation 'R8242:Tsga10'
| ID |
637585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsga10
|
| Ensembl Gene |
ENSMUSG00000060771 |
| Gene Name |
testis specific 10 |
| Synonyms |
Mtsga10, 4933432N21Rik |
| MMRRC Submission |
067647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R8242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37793857-37905510 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37846182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 315
(S315T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041815]
[ENSMUST00000088072]
[ENSMUST00000114902]
[ENSMUST00000151735]
|
| AlphaFold |
Q6NY15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041815
AA Change: S315T
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048859
Gene: ENSMUSG00000060771
AA Change: S315T
| 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: S315T
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000085391
Gene: ENSMUSG00000060771
AA Change: S315T
| 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: S315T
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110552
Gene: ENSMUSG00000060771
AA Change: S315T
| 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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.2%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,374,118 (GRCm39) |
Y736H |
possibly damaging |
Het |
| Akr1c12 |
G |
A |
13: 4,322,269 (GRCm39) |
R258* |
probably null |
Het |
| Ankfn1 |
C |
G |
11: 89,417,271 (GRCm39) |
|
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,505,824 (GRCm39) |
K947E |
probably benign |
Het |
| Barx2 |
C |
A |
9: 31,824,227 (GRCm39) |
R54L |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcl11a |
T |
A |
11: 24,113,208 (GRCm39) |
F184I |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,411,914 (GRCm39) |
D515E |
possibly damaging |
Het |
| Cfap43 |
A |
G |
19: 47,885,808 (GRCm39) |
L269P |
probably damaging |
Het |
| Col8a1 |
G |
T |
16: 57,452,721 (GRCm39) |
P94Q |
possibly damaging |
Het |
| Coq5 |
T |
C |
5: 115,417,806 (GRCm39) |
V12A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,760,670 (GRCm39) |
V155A |
probably benign |
Het |
| Defb22 |
A |
C |
2: 152,328,007 (GRCm39) |
C59W |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,669,980 (GRCm39) |
T665A |
possibly damaging |
Het |
| Gm10542 |
A |
G |
18: 44,337,708 (GRCm39) |
D62G |
possibly damaging |
Het |
| Gm45861 |
G |
A |
8: 28,038,821 (GRCm39) |
S987N |
unknown |
Het |
| Gm5591 |
T |
A |
7: 38,219,746 (GRCm39) |
T376S |
probably benign |
Het |
| Hps3 |
C |
T |
3: 20,068,290 (GRCm39) |
R588H |
possibly damaging |
Het |
| Itpr1 |
A |
T |
6: 108,363,658 (GRCm39) |
D760V |
probably benign |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,938,522 (GRCm39) |
R270S |
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,488,157 (GRCm39) |
H350N |
possibly damaging |
Het |
| Nsd3 |
G |
T |
8: 26,196,567 (GRCm39) |
E1183* |
probably null |
Het |
| Or13a19 |
T |
A |
7: 139,902,696 (GRCm39) |
L28* |
probably null |
Het |
| Or4p7 |
A |
G |
2: 88,222,418 (GRCm39) |
I276V |
possibly damaging |
Het |
| Or51f23b |
T |
C |
7: 102,402,306 (GRCm39) |
M277V |
probably benign |
Het |
| Or8k53 |
A |
T |
2: 86,177,426 (GRCm39) |
M228K |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,060,184 (GRCm39) |
T196S |
probably benign |
Het |
| Phlpp2 |
T |
C |
8: 110,666,834 (GRCm39) |
V1121A |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,954,050 (GRCm39) |
S41T |
probably benign |
Het |
| Rad51c |
A |
T |
11: 87,280,712 (GRCm39) |
N293K |
probably damaging |
Het |
| Rgs3 |
C |
A |
4: 62,538,022 (GRCm39) |
Q18K |
probably benign |
Het |
| Ripk2 |
C |
T |
4: 16,124,430 (GRCm39) |
G426D |
probably benign |
Het |
| Rpl22l1 |
T |
C |
3: 28,860,914 (GRCm39) |
V44A |
possibly damaging |
Het |
| Sntb1 |
C |
T |
15: 55,655,629 (GRCm39) |
A196T |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,821 (GRCm39) |
E409G |
probably damaging |
Het |
| Timm50 |
A |
T |
7: 28,007,836 (GRCm39) |
D105E |
probably benign |
Het |
| Ttpa |
G |
A |
4: 20,028,511 (GRCm39) |
C256Y |
probably damaging |
Het |
| Vinac1 |
G |
T |
2: 128,881,313 (GRCm39) |
C204* |
probably null |
Het |
| Vmn2r13 |
T |
C |
5: 109,322,872 (GRCm39) |
Y139C |
possibly damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,971 (GRCm39) |
S803P |
probably damaging |
Het |
| Zfp985 |
A |
C |
4: 147,668,639 (GRCm39) |
K502N |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGGCTCTGCTCAGAAGAAATC -3'
(R):5'- TACTGAAGTATGCAACTGCCAG -3'
Sequencing Primer
(F):5'- AAGATATCTCTCTCCCTGGC -3'
(R):5'- CTGCCAGAGATGGAAGTGTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation