Incidental Mutation 'IGL00668:Tsbp1'
| ID |
13323 |
| 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: 0.474)
|
| Stock # |
IGL00668
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34617794-34679708 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 34639394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078615]
[ENSMUST00000097348]
[ENSMUST00000114175]
[ENSMUST00000135217]
[ENSMUST00000139063]
[ENSMUST00000142317]
[ENSMUST00000223957]
|
| AlphaFold |
A2CG24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078615
|
| SMART Domains |
Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
| 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 |
probably benign
Transcript: ENSMUST00000097348
|
| SMART Domains |
Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
| 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 |
probably benign
Transcript: ENSMUST00000114175
|
| SMART Domains |
Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246
| 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 |
noncoding transcript
Transcript: ENSMUST00000131998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135217
|
| SMART Domains |
Protein: ENSMUSP00000119513
Gene: ENSMUSG00000057246
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000142208
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000149121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223765
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223957
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Csmd3 |
A |
T |
15: 47,777,341 (GRCm39) |
D1188E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,072,620 (GRCm39) |
L2726P |
possibly damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,221,048 (GRCm39) |
H21R |
probably benign |
Het |
| Il23r |
T |
C |
6: 67,400,612 (GRCm39) |
T573A |
probably damaging |
Het |
| Lima1 |
A |
T |
15: 99,700,038 (GRCm39) |
V147E |
possibly damaging |
Het |
| Med12 |
T |
C |
X: 100,324,792 (GRCm39) |
S666P |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,160 (GRCm39) |
N273S |
probably benign |
Het |
| Phf20l1 |
T |
A |
15: 66,504,698 (GRCm39) |
Y780N |
probably damaging |
Het |
| Pigk |
A |
G |
3: 152,448,173 (GRCm39) |
T179A |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,138 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,985 (GRCm39) |
E894G |
probably damaging |
Het |
| Slc38a11 |
T |
A |
2: 65,184,126 (GRCm39) |
D175V |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,883,968 (GRCm39) |
|
probably null |
Het |
| Wmp |
T |
A |
X: 106,990,802 (GRCm39) |
Y37F |
possibly damaging |
Het |
|
| Other mutations in Tsbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation