Incidental Mutation 'R5791:Tbl3'
| ID |
446992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbl3
|
| Ensembl Gene |
ENSMUSG00000040688 |
| Gene Name |
transducin (beta)-like 3 |
| Synonyms |
9430070M15Rik |
| MMRRC Submission |
043207-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R5791 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24919627-24926627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24923408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 307
(L307H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019464]
[ENSMUST00000126319]
|
| AlphaFold |
Q8C4J7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019464
|
| SMART Domains |
Protein: ENSMUSP00000019464
Gene: ENSMUSG00000019320
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
6 |
122 |
1.36e-2 |
SMART |
|
SH3
|
160 |
218 |
1.55e0 |
SMART |
|
SH3
|
234 |
289 |
1.8e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124864
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126319
AA Change: L307H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: L307H
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
54 |
94 |
3.08e0 |
SMART |
|
WD40
|
97 |
137 |
2.38e-6 |
SMART |
|
WD40
|
140 |
181 |
3.85e-1 |
SMART |
|
WD40
|
184 |
223 |
6.94e-8 |
SMART |
|
WD40
|
237 |
275 |
7.36e1 |
SMART |
|
WD40
|
278 |
320 |
3.07e1 |
SMART |
|
WD40
|
323 |
363 |
1.78e0 |
SMART |
|
WD40
|
365 |
404 |
1.17e-5 |
SMART |
|
WD40
|
410 |
450 |
8.16e-5 |
SMART |
|
WD40
|
468 |
507 |
5.18e-7 |
SMART |
|
WD40
|
510 |
549 |
8.1e-9 |
SMART |
|
WD40
|
552 |
591 |
8.55e-8 |
SMART |
|
WD40
|
594 |
633 |
2.93e-6 |
SMART |
|
low complexity region
|
637 |
650 |
N/A |
INTRINSIC |
|
Pfam:Utp13
|
654 |
788 |
3.7e-43 |
PFAM |
|
low complexity region
|
792 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130633
|
| SMART Domains |
Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
38 |
8.75e-5 |
SMART |
|
WD40
|
41 |
80 |
8.1e-9 |
SMART |
|
WD40
|
90 |
129 |
9.52e-6 |
SMART |
|
WD40
|
132 |
171 |
2.93e-6 |
SMART |
|
low complexity region
|
175 |
188 |
N/A |
INTRINSIC |
|
Pfam:Utp13
|
192 |
299 |
1e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149326
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
C |
8: 41,207,257 (GRCm39) |
Q174H |
probably benign |
Het |
| Adipor2 |
A |
T |
6: 119,338,866 (GRCm39) |
M129K |
possibly damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,807,894 (GRCm39) |
M616K |
probably damaging |
Het |
| Calcrl |
A |
T |
2: 84,181,609 (GRCm39) |
F180I |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,537,560 (GRCm39) |
V864A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,938,436 (GRCm39) |
F504S |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,975,211 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,530,696 (GRCm39) |
N751S |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,814,027 (GRCm39) |
E1360K |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,822,111 (GRCm39) |
D1152V |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,855,857 (GRCm39) |
N631K |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,401,394 (GRCm39) |
K27R |
probably damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,574,221 (GRCm39) |
W42R |
probably damaging |
Het |
| Gas6 |
A |
G |
8: 13,520,217 (GRCm39) |
|
probably null |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gmppa |
T |
C |
1: 75,418,899 (GRCm39) |
V324A |
possibly damaging |
Het |
| Gstm2 |
C |
T |
3: 107,891,444 (GRCm39) |
|
probably null |
Het |
| Kcng3 |
A |
G |
17: 83,895,639 (GRCm39) |
S276P |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,901,254 (GRCm39) |
S520P |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,865,505 (GRCm39) |
N190S |
probably benign |
Het |
| Lrwd1 |
G |
C |
5: 136,159,887 (GRCm39) |
A392G |
probably benign |
Het |
| Mab21l2 |
A |
G |
3: 86,454,044 (GRCm39) |
Y319H |
probably damaging |
Het |
| Ndufv3 |
A |
G |
17: 31,746,382 (GRCm39) |
N91D |
probably benign |
Het |
| Nfatc2 |
T |
A |
2: 168,378,313 (GRCm39) |
M451L |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,918,030 (GRCm39) |
S72T |
probably damaging |
Het |
| Pcdhgb2 |
G |
T |
18: 37,825,393 (GRCm39) |
V795F |
possibly damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,099,430 (GRCm39) |
M843K |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,073,617 (GRCm39) |
N221K |
probably benign |
Het |
| Ppox |
T |
C |
1: 171,104,885 (GRCm39) |
Y422C |
probably damaging |
Het |
| Retreg3 |
A |
G |
11: 100,991,769 (GRCm39) |
S55P |
probably damaging |
Het |
| Rnf103 |
C |
A |
6: 71,485,909 (GRCm39) |
T180K |
probably damaging |
Het |
| Tex26 |
A |
T |
5: 149,363,240 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
T |
9: 67,293,887 (GRCm39) |
I247K |
probably damaging |
Het |
| Txlnb |
T |
C |
10: 17,674,876 (GRCm39) |
S10P |
probably benign |
Het |
| Vwde |
C |
A |
6: 13,195,985 (GRCm39) |
E347* |
probably null |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,737,687 (GRCm39) |
S433P |
probably damaging |
Het |
| Zfp647 |
G |
T |
15: 76,802,206 (GRCm39) |
A2E |
unknown |
Het |
|
| Other mutations in Tbl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Tbl3
|
APN |
17 |
24,924,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01092:Tbl3
|
APN |
17 |
24,920,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL01601:Tbl3
|
APN |
17 |
24,921,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Tbl3
|
APN |
17 |
24,923,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02214:Tbl3
|
APN |
17 |
24,923,106 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03027:Tbl3
|
APN |
17 |
24,920,167 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
FR4449:Tbl3
|
UTSW |
17 |
24,921,518 (GRCm39) |
unclassified |
probably benign |
|
|
R0230:Tbl3
|
UTSW |
17 |
24,920,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Tbl3
|
UTSW |
17 |
24,920,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Tbl3
|
UTSW |
17 |
24,924,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1104:Tbl3
|
UTSW |
17 |
24,920,580 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1920:Tbl3
|
UTSW |
17 |
24,923,477 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2513:Tbl3
|
UTSW |
17 |
24,923,524 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2570:Tbl3
|
UTSW |
17 |
24,922,290 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2851:Tbl3
|
UTSW |
17 |
24,921,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Tbl3
|
UTSW |
17 |
24,921,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3944:Tbl3
|
UTSW |
17 |
24,919,682 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4019:Tbl3
|
UTSW |
17 |
24,923,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4745:Tbl3
|
UTSW |
17 |
24,924,304 (GRCm39) |
unclassified |
probably benign |
|
|
R5288:Tbl3
|
UTSW |
17 |
24,924,944 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5605:Tbl3
|
UTSW |
17 |
24,919,733 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6236:Tbl3
|
UTSW |
17 |
24,919,717 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6302:Tbl3
|
UTSW |
17 |
24,923,645 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6938:Tbl3
|
UTSW |
17 |
24,924,187 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7173:Tbl3
|
UTSW |
17 |
24,924,233 (GRCm39) |
missense |
probably benign |
|
|
R7176:Tbl3
|
UTSW |
17 |
24,919,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7382:Tbl3
|
UTSW |
17 |
24,924,265 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7555:Tbl3
|
UTSW |
17 |
24,920,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7732:Tbl3
|
UTSW |
17 |
24,923,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7780:Tbl3
|
UTSW |
17 |
24,921,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Tbl3
|
UTSW |
17 |
24,921,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8108:Tbl3
|
UTSW |
17 |
24,919,890 (GRCm39) |
missense |
probably benign |
|
|
R9634:Tbl3
|
UTSW |
17 |
24,926,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF005:Tbl3
|
UTSW |
17 |
24,921,515 (GRCm39) |
unclassified |
probably benign |
|
|
X0022:Tbl3
|
UTSW |
17 |
24,924,547 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Tbl3
|
UTSW |
17 |
24,921,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATAGCCAGCAAACTGTGGG -3'
(R):5'- AGGCCTGCACTTCTTAACAG -3'
Sequencing Primer
(F):5'- TGTGGGAGACAGGAAGGTC -3'
(R):5'- CTTCTTAACAGCTGGTGACCAAGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation