Incidental Mutation 'R3932:Tsbp1'
| ID |
308528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsbp1
|
| Ensembl Gene |
ENSMUSG00000057246 |
| Gene Name |
testis expressed basic protein 1 |
| Synonyms |
BC051142 |
| MMRRC Submission |
040919-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
R3932 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34617794-34679708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34662417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 86
(T86A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078615]
[ENSMUST00000097348]
[ENSMUST00000114175]
[ENSMUST00000139063]
[ENSMUST00000142317]
[ENSMUST00000223957]
|
| AlphaFold |
A2CG24 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078615
AA Change: T99A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: T99A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097348
AA Change: T111A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: T111A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
398 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114175
AA Change: T97A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246
AA Change: T97A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
165 |
N/A |
INTRINSIC |
|
SCOP:d1i7qa_
|
227 |
277 |
5e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139063
AA Change: T134A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121839
Gene: ENSMUSG00000057246
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142317
|
| SMART Domains |
Protein: ENSMUSP00000117413
Gene: ENSMUSG00000057246
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223765
AA Change: T111A
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223957
AA Change: T86A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.0681 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arl1 |
C |
T |
10: 88,569,398 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,476,852 (GRCm39) |
M1189T |
possibly damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| Cdc34b |
G |
A |
11: 94,633,441 (GRCm39) |
V214M |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,665,619 (GRCm39) |
T2985A |
probably benign |
Het |
| Clcc1 |
T |
C |
3: 108,580,682 (GRCm39) |
M332T |
probably damaging |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ctdnep1 |
A |
G |
11: 69,880,400 (GRCm39) |
|
probably benign |
Het |
| Edar |
C |
T |
10: 58,446,164 (GRCm39) |
C221Y |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,322,280 (GRCm39) |
Q1295L |
probably benign |
Het |
| Fam184a |
C |
T |
10: 53,575,397 (GRCm39) |
A71T |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,759,983 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,542,071 (GRCm39) |
W247R |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,725,893 (GRCm39) |
H553R |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
| H2-Q6 |
C |
T |
17: 35,644,542 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Med10 |
A |
G |
13: 69,958,101 (GRCm39) |
N18D |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,124,165 (GRCm39) |
H368Q |
possibly damaging |
Het |
| Morn5 |
C |
A |
2: 35,943,035 (GRCm39) |
T45N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,195,515 (GRCm39) |
T432A |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,529,896 (GRCm39) |
E2148D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,433,595 (GRCm39) |
T236A |
possibly damaging |
Het |
| Odc1 |
T |
A |
12: 17,598,801 (GRCm39) |
F227Y |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,994 (GRCm39) |
M285T |
possibly damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,968,989 (GRCm39) |
I110V |
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,554,545 (GRCm39) |
E212K |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,413,704 (GRCm39) |
I307T |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,473,384 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,166,639 (GRCm39) |
|
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,356,342 (GRCm39) |
D961G |
probably damaging |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
T |
A |
11: 78,289,226 (GRCm39) |
Y495F |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,845,458 (GRCm39) |
D67V |
probably damaging |
Het |
| Tmem94 |
T |
C |
11: 115,680,080 (GRCm39) |
M30T |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,988,617 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,336 (GRCm39) |
M783V |
probably damaging |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
Het |
| Zfp94 |
T |
G |
7: 24,003,112 (GRCm39) |
D110A |
probably benign |
Het |
|
| Other mutations in Tsbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00668:Tsbp1
|
APN |
17 |
34,639,394 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01516:Tsbp1
|
APN |
17 |
34,668,234 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
FR4304:Tsbp1
|
UTSW |
17 |
34,679,051 (GRCm39) |
unclassified |
probably benign |
|
|
FR4304:Tsbp1
|
UTSW |
17 |
34,679,029 (GRCm39) |
unclassified |
probably benign |
|
|
FR4340:Tsbp1
|
UTSW |
17 |
34,679,051 (GRCm39) |
unclassified |
probably benign |
|
|
FR4340:Tsbp1
|
UTSW |
17 |
34,679,042 (GRCm39) |
unclassified |
probably benign |
|
|
FR4340:Tsbp1
|
UTSW |
17 |
34,679,034 (GRCm39) |
nonsense |
probably null |
|
|
FR4548:Tsbp1
|
UTSW |
17 |
34,679,039 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Tsbp1
|
UTSW |
17 |
34,679,047 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Tsbp1
|
UTSW |
17 |
34,679,027 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Tsbp1
|
UTSW |
17 |
34,679,042 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Tsbp1
|
UTSW |
17 |
34,679,025 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Tsbp1
|
UTSW |
17 |
34,679,035 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Tsbp1
|
UTSW |
17 |
34,679,032 (GRCm39) |
unclassified |
probably benign |
|
|
R0046:Tsbp1
|
UTSW |
17 |
34,679,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0046:Tsbp1
|
UTSW |
17 |
34,679,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0523:Tsbp1
|
UTSW |
17 |
34,664,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0661:Tsbp1
|
UTSW |
17 |
34,678,887 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2224:Tsbp1
|
UTSW |
17 |
34,667,737 (GRCm39) |
splice site |
probably null |
|
|
R2937:Tsbp1
|
UTSW |
17 |
34,640,836 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4210:Tsbp1
|
UTSW |
17 |
34,679,257 (GRCm39) |
unclassified |
probably benign |
|
|
R4924:Tsbp1
|
UTSW |
17 |
34,678,951 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5055:Tsbp1
|
UTSW |
17 |
34,667,770 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5446:Tsbp1
|
UTSW |
17 |
34,659,867 (GRCm39) |
splice site |
probably null |
|
|
R6147:Tsbp1
|
UTSW |
17 |
34,637,897 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6851:Tsbp1
|
UTSW |
17 |
34,679,146 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6866:Tsbp1
|
UTSW |
17 |
34,678,935 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7035:Tsbp1
|
UTSW |
17 |
34,679,305 (GRCm39) |
unclassified |
probably benign |
|
|
R7077:Tsbp1
|
UTSW |
17 |
34,659,856 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7468:Tsbp1
|
UTSW |
17 |
34,636,539 (GRCm39) |
splice site |
probably null |
|
|
R7556:Tsbp1
|
UTSW |
17 |
34,656,691 (GRCm39) |
missense |
unknown |
|
|
R7843:Tsbp1
|
UTSW |
17 |
34,668,798 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8503:Tsbp1
|
UTSW |
17 |
34,667,100 (GRCm39) |
splice site |
probably benign |
|
|
R8529:Tsbp1
|
UTSW |
17 |
34,679,143 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8683:Tsbp1
|
UTSW |
17 |
34,667,782 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8931:Tsbp1
|
UTSW |
17 |
34,659,328 (GRCm39) |
splice site |
probably benign |
|
|
R8941:Tsbp1
|
UTSW |
17 |
34,678,973 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9222:Tsbp1
|
UTSW |
17 |
34,648,922 (GRCm39) |
missense |
|
|
|
R9560:Tsbp1
|
UTSW |
17 |
34,663,016 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCACGGTTCTGTCTTTC -3'
(R):5'- TTTTAAGGCCGTGGGATCC -3'
Sequencing Primer
(F):5'- CACAGTGAGTGTTGCCTGTGC -3'
(R):5'- GGGATCCCCATTTTCTAAAATATGAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation