Incidental Mutation 'R7077:Tsbp1'
| ID |
549301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsbp1
|
| Ensembl Gene |
ENSMUSG00000057246 |
| Gene Name |
testis expressed basic protein 1 |
| Synonyms |
BC051142 |
| MMRRC Submission |
045172-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
R7077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34617794-34679708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34659856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 93
(T93N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109812
(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: T95N
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: T95N
| 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: T107N
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: T107N
| 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: T93N
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246
AA Change: T93N
| 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 damaging
Transcript: ENSMUST00000139063
AA Change: T130N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121839
Gene: ENSMUSG00000057246
AA Change: T130N
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223957
AA Change: T82N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
C |
T |
12: 81,605,893 (GRCm39) |
C623Y |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,265,325 (GRCm39) |
K322R |
probably null |
Het |
| Ankrd17 |
T |
C |
5: 90,433,723 (GRCm39) |
H682R |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,094,276 (GRCm39) |
D187G |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,879,231 (GRCm39) |
D840G |
unknown |
Het |
| AW551984 |
C |
T |
9: 39,502,723 (GRCm39) |
V650I |
probably benign |
Het |
| Bok |
T |
A |
1: 93,616,911 (GRCm39) |
Y86N |
probably damaging |
Het |
| Ccdc146 |
T |
A |
5: 21,510,272 (GRCm39) |
N580I |
possibly damaging |
Het |
| Ccng2 |
T |
C |
5: 93,417,199 (GRCm39) |
S72P |
possibly damaging |
Het |
| Cfap74 |
T |
G |
4: 155,540,134 (GRCm39) |
I977S |
unknown |
Het |
| Cobl |
T |
C |
11: 12,203,441 (GRCm39) |
N1087S |
probably benign |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,333 (GRCm39) |
R346L |
probably damaging |
Het |
| Eif4a1 |
A |
C |
11: 69,561,490 (GRCm39) |
F52L |
probably damaging |
Het |
| Eif4ebp2 |
A |
C |
10: 61,269,580 (GRCm39) |
I120S |
probably damaging |
Het |
| Enpp2 |
A |
C |
15: 54,764,787 (GRCm39) |
D146E |
probably benign |
Het |
| Exosc9 |
T |
C |
3: 36,607,205 (GRCm39) |
Y30H |
probably damaging |
Het |
| Fam117a |
G |
A |
11: 95,268,498 (GRCm39) |
G300S |
probably benign |
Het |
| Focad |
C |
A |
4: 88,328,914 (GRCm39) |
A1709E |
unknown |
Het |
| Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,813,496 (GRCm39) |
F3272L |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,013,896 (GRCm39) |
M22I |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,928 (GRCm39) |
E50G |
probably damaging |
Het |
| Gm10375 |
G |
T |
14: 43,840,427 (GRCm39) |
T162K |
probably benign |
Het |
| Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
| Gm4924 |
T |
C |
10: 82,215,057 (GRCm39) |
F952L |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,433,045 (GRCm39) |
F1132L |
possibly damaging |
Het |
| Hnrnpu |
A |
G |
1: 178,159,756 (GRCm39) |
Y442H |
unknown |
Het |
| Hp1bp3 |
C |
A |
4: 137,966,929 (GRCm39) |
T408N |
probably damaging |
Het |
| Htra3 |
A |
G |
5: 35,825,660 (GRCm39) |
V198A |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,828,547 (GRCm39) |
T300A |
probably benign |
Het |
| Lipo5 |
G |
T |
19: 33,445,170 (GRCm39) |
P133Q |
|
Het |
| Lrp1b |
A |
T |
2: 41,660,858 (GRCm39) |
H197Q |
|
Het |
| Mdc1 |
C |
A |
17: 36,156,839 (GRCm39) |
A82D |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,408 (GRCm39) |
D248V |
probably benign |
Het |
| Myo1d |
C |
T |
11: 80,565,460 (GRCm39) |
E426K |
probably damaging |
Het |
| Ola1 |
G |
A |
2: 72,972,308 (GRCm39) |
T221I |
probably damaging |
Het |
| Or52z1 |
A |
G |
7: 103,436,593 (GRCm39) |
I297T |
probably damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,236 (GRCm39) |
Y147C |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,428 (GRCm39) |
S102T |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,266 (GRCm39) |
Y290N |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,623,201 (GRCm39) |
T618A |
possibly damaging |
Het |
| Pkd1 |
T |
G |
17: 24,810,093 (GRCm39) |
W3565G |
probably damaging |
Het |
| Prl3a1 |
A |
T |
13: 27,460,086 (GRCm39) |
N190I |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,281,633 (GRCm39) |
R484Q |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,071,820 (GRCm39) |
M900T |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
| Smarcd3 |
G |
T |
5: 24,799,960 (GRCm39) |
A270D |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,272,187 (GRCm39) |
M33T |
|
Het |
| Tle1 |
G |
C |
4: 72,076,612 (GRCm39) |
P139A |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Zfp658 |
T |
A |
7: 43,223,413 (GRCm39) |
S563T |
probably benign |
Het |
| Zswim9 |
G |
A |
7: 12,993,679 (GRCm39) |
R826C |
probably damaging |
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 |
|
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 |
|
|
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'- TGGGCAAAGGTCTTTTCCCTG -3'
(R):5'- GCTGGATAAGGACTAGTGGGTC -3'
Sequencing Primer
(F):5'- AAAGGTCTTTTCCCTGCCTGAG -3'
(R):5'- GGGTTCCACTGCCATAGTTAATATC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation