Incidental Mutation 'R0789:Tsga10'
| ID |
76377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsga10
|
| Ensembl Gene |
ENSMUSG00000060771 |
| Gene Name |
testis specific 10 |
| Synonyms |
Mtsga10, 4933432N21Rik |
| MMRRC Submission |
038969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R0789 (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 37840868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 446
(I446N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041815]
[ENSMUST00000088072]
[ENSMUST00000114902]
[ENSMUST00000151735]
|
| AlphaFold |
Q6NY15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041815
AA Change: I446N
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048859
Gene: ENSMUSG00000060771
AA Change: I446N
| 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: I446N
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000085391
Gene: ENSMUSG00000060771
AA Change: I446N
| 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: I446N
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110552
Gene: ENSMUSG00000060771
AA Change: I446N
| 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 |
|
| Meta Mutation Damage Score |
0.0593 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 91.7%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
T |
C |
5: 24,744,862 (GRCm39) |
T111A |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,005,283 (GRCm39) |
I526M |
possibly damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,341,895 (GRCm39) |
V335I |
probably damaging |
Het |
| Ccdc33 |
C |
T |
9: 58,024,497 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
T |
G |
19: 47,943,748 (GRCm39) |
I316S |
probably benign |
Het |
| Chpf |
A |
T |
1: 75,452,407 (GRCm39) |
L349Q |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,210 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Dnah1 |
T |
C |
14: 31,026,548 (GRCm39) |
I777V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,874,967 (GRCm39) |
V3966A |
probably damaging |
Het |
| Fbxo38 |
G |
A |
18: 62,648,570 (GRCm39) |
S656F |
possibly damaging |
Het |
| Fgf10 |
T |
A |
13: 118,925,741 (GRCm39) |
N173K |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,576,293 (GRCm39) |
E572K |
probably damaging |
Het |
| Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
| Glt8d2 |
T |
C |
10: 82,500,519 (GRCm39) |
N77S |
probably damaging |
Het |
| Grem1 |
C |
A |
2: 113,580,056 (GRCm39) |
K148N |
probably benign |
Het |
| Hat1 |
G |
A |
2: 71,252,088 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,293,603 (GRCm39) |
I3517F |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,838,051 (GRCm39) |
K253R |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,595,151 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,411,888 (GRCm39) |
Y66C |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,105,932 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,784,609 (GRCm39) |
M253V |
probably benign |
Het |
| Omt2b |
G |
T |
9: 78,235,447 (GRCm39) |
|
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,171 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,408,458 (GRCm39) |
P138H |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,226 (GRCm39) |
Y358C |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,562,366 (GRCm39) |
M1215T |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,275,852 (GRCm39) |
Y145H |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,984,891 (GRCm39) |
E927G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,611,318 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
C |
17: 3,247,112 (GRCm39) |
C812R |
possibly damaging |
Het |
| Scart2 |
G |
T |
7: 139,828,133 (GRCm39) |
G114W |
probably damaging |
Het |
| Smpd4 |
T |
C |
16: 17,443,690 (GRCm39) |
V78A |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,852,202 (GRCm39) |
S241T |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,137,582 (GRCm39) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,683,082 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,612,225 (GRCm39) |
S864T |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,466,762 (GRCm39) |
Y91H |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,738 (GRCm39) |
V216A |
possibly damaging |
Het |
| Wdr17 |
A |
T |
8: 55,112,607 (GRCm39) |
|
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,016,615 (GRCm39) |
T799A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGATTGACATTATGTTGAGCCAAGCC -3'
(R):5'- CTGCTGAGTGAGGAACTGATGGAC -3'
Sequencing Primer
(F):5'- AGCCAAGCTCACTTAGTATGAC -3'
(R):5'- GATTTCCCAGTGGCCTAGATAGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation