Incidental Mutation 'R6851:Tsbp1'
| ID |
534989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsbp1
|
| Ensembl Gene |
ENSMUSG00000057246 |
| Gene Name |
testis expressed basic protein 1 |
| Synonyms |
BC051142 |
| MMRRC Submission |
044955-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.435)
|
| Stock # |
R6851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34617794-34679708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34679146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 303
(Y303F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078615]
[ENSMUST00000097348]
[ENSMUST00000114175]
|
| AlphaFold |
A2CG24 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000078615
AA Change: Y296F
|
| SMART Domains |
Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: Y296F
| 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: Y303F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: Y303F
| 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 |
probably benign
Transcript: ENSMUST00000223765
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,623,345 (GRCm39) |
C856S |
probably benign |
Het |
| Arrdc2 |
T |
C |
8: 71,291,369 (GRCm39) |
E153G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,764,739 (GRCm39) |
D2033G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cracr2a |
A |
T |
6: 127,585,679 (GRCm39) |
D159V |
probably damaging |
Het |
| Defa35 |
T |
C |
8: 21,555,146 (GRCm39) |
I22T |
possibly damaging |
Het |
| Dgke |
T |
C |
11: 88,943,309 (GRCm39) |
T227A |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,896,521 (GRCm39) |
R4290K |
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,336 (GRCm39) |
R554C |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,656,458 (GRCm39) |
R214Q |
probably damaging |
Het |
| Gpr180 |
T |
C |
14: 118,391,037 (GRCm39) |
Y189H |
probably damaging |
Het |
| Hadh |
A |
G |
3: 131,065,620 (GRCm39) |
S13P |
possibly damaging |
Het |
| Hcn2 |
T |
A |
10: 79,564,947 (GRCm39) |
|
probably null |
Het |
| Irgm2 |
T |
C |
11: 58,110,641 (GRCm39) |
S123P |
possibly damaging |
Het |
| Kcnv1 |
T |
A |
15: 44,972,594 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 65,010,514 (GRCm39) |
C1271Y |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,989,218 (GRCm39) |
I48N |
possibly damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,649,841 (GRCm39) |
W1182R |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,497,630 (GRCm39) |
|
probably null |
Het |
| Or12e1 |
T |
A |
2: 87,022,813 (GRCm39) |
S261T |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,569,481 (GRCm39) |
V69A |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,611 (GRCm39) |
T64A |
possibly damaging |
Het |
| Or9m1b |
T |
A |
2: 87,836,300 (GRCm39) |
H265L |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,479 (GRCm39) |
Y295* |
probably null |
Het |
| Pex5 |
A |
G |
6: 124,380,113 (GRCm39) |
S275P |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,881,521 (GRCm39) |
G543C |
probably damaging |
Het |
| Serpina3k |
A |
C |
12: 104,311,625 (GRCm39) |
Y401S |
probably benign |
Het |
| Slc13a4 |
A |
G |
6: 35,278,668 (GRCm39) |
S74P |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,725 (GRCm39) |
L114P |
unknown |
Het |
| Syne1 |
G |
T |
10: 5,212,703 (GRCm39) |
C3295* |
probably null |
Het |
| Tepsin |
G |
T |
11: 119,987,787 (GRCm39) |
H44N |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,919 (GRCm39) |
V170E |
probably damaging |
Het |
| Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,265,402 (GRCm39) |
V1642A |
probably benign |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,845 (GRCm39) |
I70T |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,800 (GRCm39) |
M237V |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,862,587 (GRCm39) |
E802G |
probably benign |
Het |
| Zan |
G |
A |
5: 137,394,453 (GRCm39) |
T4462I |
unknown |
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 |
|
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'- ATGCCAGTGTGAATACTGCTG -3'
(R):5'- GTGGAGCGCTGGAATCAGAATC -3'
Sequencing Primer
(F):5'- CCAGTGTGAATACTGCTGTCCAAAG -3'
(R):5'- AGCGCTGGAATCAGAATCTGTTTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation