Incidental Mutation 'R5036:Tsga10'
| ID |
389522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsga10
|
| Ensembl Gene |
ENSMUSG00000060771 |
| Gene Name |
testis specific 10 |
| Synonyms |
Mtsga10, 4933432N21Rik |
| MMRRC Submission |
042627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R5036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37793857-37905510 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37823049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 488
(V488E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041815]
[ENSMUST00000088072]
[ENSMUST00000114902]
|
| AlphaFold |
Q6NY15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041815
AA Change: V488E
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048859
Gene: ENSMUSG00000060771
AA Change: V488E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000085391
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 |
249 |
N/A |
INTRINSIC |
|
Blast:SPEC
|
294 |
391 |
5e-6 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114902
AA Change: V488E
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110552
Gene: ENSMUSG00000060771
AA Change: V488E
| 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 |
|
| Meta Mutation Damage Score |
0.0674 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.1%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
A |
7: 41,275,578 (GRCm39) |
G427D |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,959,419 (GRCm39) |
|
probably null |
Het |
| Cabyr |
A |
T |
18: 12,884,303 (GRCm39) |
E263D |
probably damaging |
Het |
| Car1 |
A |
T |
3: 14,841,299 (GRCm39) |
D45E |
possibly damaging |
Het |
| Col25a1 |
T |
C |
3: 130,376,978 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
G |
T |
6: 73,021,674 (GRCm39) |
S3549R |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,596,969 (GRCm39) |
I1639F |
probably damaging |
Het |
| Fhad1 |
A |
T |
4: 141,648,052 (GRCm39) |
D271E |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,826,223 (GRCm39) |
S101P |
probably benign |
Het |
| Gm4781 |
C |
A |
10: 100,232,851 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch3 |
A |
G |
4: 133,305,461 (GRCm39) |
Y232C |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,246,349 (GRCm39) |
N869S |
probably damaging |
Het |
| Ifi204 |
G |
A |
1: 173,580,311 (GRCm39) |
P400S |
possibly damaging |
Het |
| Ighv2-2 |
T |
C |
12: 113,552,092 (GRCm39) |
T49A |
possibly damaging |
Het |
| Itsn1 |
T |
A |
16: 91,579,123 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,740,745 (GRCm39) |
N626K |
probably damaging |
Het |
| Nf1 |
C |
A |
11: 79,337,690 (GRCm39) |
Q1098K |
probably damaging |
Het |
| Odc1 |
C |
A |
12: 17,598,020 (GRCm39) |
Q116K |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,541,783 (GRCm39) |
E761K |
possibly damaging |
Het |
| Palld |
A |
T |
8: 62,003,196 (GRCm39) |
V301D |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,249,801 (GRCm39) |
L533* |
probably null |
Het |
| Plekhh2 |
T |
C |
17: 84,879,189 (GRCm39) |
S638P |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,214,537 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
G |
T |
1: 176,839,541 (GRCm39) |
R695L |
probably damaging |
Het |
| Serpina1c |
A |
G |
12: 103,865,085 (GRCm39) |
I187T |
probably damaging |
Het |
| Slitrk5 |
G |
T |
14: 111,918,316 (GRCm39) |
G647W |
possibly damaging |
Het |
| Sycp1 |
T |
A |
3: 102,727,916 (GRCm39) |
K899M |
probably damaging |
Het |
| Taok1 |
G |
A |
11: 77,440,157 (GRCm39) |
R617C |
probably benign |
Het |
| Tbc1d32 |
A |
C |
10: 56,071,500 (GRCm39) |
Y341* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,343,997 (GRCm39) |
N267D |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,501,768 (GRCm39) |
V1287A |
probably damaging |
Het |
| Ttc39c |
G |
T |
18: 12,820,138 (GRCm39) |
|
probably null |
Het |
| Uck1 |
A |
T |
2: 32,148,478 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,419 (GRCm39) |
I306V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAGTTCTGTCAGTGTGG -3'
(R):5'- ATCAGCACCGGTATCACCTG -3'
Sequencing Primer
(F):5'- CTTGAATCCTTTAGAATTCAGCTGTC -3'
(R):5'- ATCACCTGAGGTCTGCTAGGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation