Incidental Mutation 'IGL01516:Tsbp1'
| ID |
90377 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tsbp1
|
| Ensembl Gene |
ENSMUSG00000057246 |
| Gene Name |
testis expressed basic protein 1 |
| Synonyms |
BC051142 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.435)
|
| Stock # |
IGL01516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34617794-34679708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34668234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 168
(D168G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078615]
[ENSMUST00000097348]
[ENSMUST00000114175]
[ENSMUST00000139063]
[ENSMUST00000223957]
|
| AlphaFold |
A2CG24 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078615
AA Change: D168G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: D168G
| 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: D175G
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: D175G
| 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: D166G
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246
AA Change: D166G
| 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 |
probably benign
Transcript: ENSMUST00000139063
|
| SMART Domains |
Protein: ENSMUSP00000121839
Gene: ENSMUSG00000057246
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223765
AA Change: D175G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223957
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,838,548 (GRCm39) |
S95P |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,109,043 (GRCm39) |
H709L |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,060,172 (GRCm39) |
Y455C |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,453,563 (GRCm39) |
T341I |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,611,830 (GRCm39) |
Y77* |
probably null |
Het |
| Cps1 |
C |
T |
1: 67,269,443 (GRCm39) |
R1481C |
probably damaging |
Het |
| Cspg5 |
A |
G |
9: 110,075,761 (GRCm39) |
K166E |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,616,584 (GRCm39) |
|
probably null |
Het |
| Epha5 |
C |
A |
5: 84,534,135 (GRCm39) |
L65F |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,367,404 (GRCm39) |
K438* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,076,432 (GRCm39) |
C1005S |
probably damaging |
Het |
| Hs3st5 |
C |
T |
10: 36,709,047 (GRCm39) |
T194I |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,816,108 (GRCm39) |
D45V |
probably benign |
Het |
| Il1rn |
C |
T |
2: 24,239,551 (GRCm39) |
T130I |
probably damaging |
Het |
| Klk1b22 |
G |
T |
7: 43,765,732 (GRCm39) |
C196F |
probably damaging |
Het |
| Lamp1 |
C |
T |
8: 13,223,863 (GRCm39) |
H332Y |
probably damaging |
Het |
| Limd2 |
T |
C |
11: 106,049,870 (GRCm39) |
T40A |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
T |
C |
6: 115,826,491 (GRCm39) |
T167A |
probably damaging |
Het |
| Mitf |
T |
A |
6: 97,987,351 (GRCm39) |
|
probably null |
Het |
| Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,132 (GRCm39) |
L201Q |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,760,266 (GRCm39) |
I261F |
probably damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,165 (GRCm39) |
I91F |
probably benign |
Het |
| Paics |
T |
A |
5: 77,104,578 (GRCm39) |
L68I |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,104,337 (GRCm39) |
V56A |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,852,428 (GRCm39) |
V102M |
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,681,448 (GRCm39) |
T62I |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,266,728 (GRCm39) |
E212V |
probably damaging |
Het |
| Rufy2 |
A |
C |
10: 62,847,212 (GRCm39) |
K539Q |
possibly damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
T |
C |
15: 99,610,094 (GRCm39) |
F442L |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,576 (GRCm39) |
V125A |
probably damaging |
Het |
| Tmem154 |
C |
T |
3: 84,591,897 (GRCm39) |
H120Y |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,823 (GRCm39) |
K1321E |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,383,459 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,857 (GRCm39) |
F137L |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,632 (GRCm39) |
T262S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,370 (GRCm39) |
V793A |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,038 (GRCm39) |
N300S |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,426,127 (GRCm39) |
|
probably null |
Het |
| Zfp784 |
G |
A |
7: 5,039,036 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
G |
T |
12: 79,334,625 (GRCm39) |
P131Q |
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 |
|
|
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 |
|
R3932:Tsbp1
|
UTSW |
17 |
34,662,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation