Incidental Mutation 'IGL01601:Tbl3'
| ID |
91777 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbl3
|
| Ensembl Gene |
ENSMUSG00000040688 |
| Gene Name |
transducin (beta)-like 3 |
| Synonyms |
9430070M15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL01601
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24919627-24926627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24921291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 500
(D500V)
|
| 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: D500V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: D500V
| 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 |
noncoding transcript
Transcript: ENSMUST00000126342
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130633
AA Change: D30V
|
| SMART Domains |
Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688
AA Change: D30V
| 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: ENSMUST00000142362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150313
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
C |
17: 43,020,940 (GRCm39) |
D628G |
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,568,823 (GRCm39) |
I708N |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,840,555 (GRCm39) |
F985I |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,798,685 (GRCm39) |
W1315R |
probably damaging |
Het |
| Arhgef33 |
C |
A |
17: 80,655,112 (GRCm39) |
Q106K |
probably damaging |
Het |
| Atad5 |
G |
A |
11: 79,986,343 (GRCm39) |
G477S |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,411 (GRCm39) |
I451K |
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,754,252 (GRCm39) |
I98N |
probably damaging |
Het |
| Commd1 |
T |
C |
11: 22,849,981 (GRCm39) |
E234G |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,189,528 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
T |
C |
12: 95,746,369 (GRCm39) |
S236P |
probably damaging |
Het |
| Garnl3 |
G |
A |
2: 32,887,701 (GRCm39) |
Q770* |
probably null |
Het |
| Gpr22 |
C |
T |
12: 31,760,044 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,503,164 (GRCm39) |
D3880E |
probably benign |
Het |
| Lgals8 |
T |
C |
13: 12,471,219 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,101 (GRCm39) |
V214A |
probably benign |
Het |
| Nat8l |
T |
C |
5: 34,155,809 (GRCm39) |
L155P |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,691,154 (GRCm39) |
S359G |
probably benign |
Het |
| Pex6 |
A |
C |
17: 47,034,650 (GRCm39) |
N785T |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,023,823 (GRCm39) |
C104S |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,000,437 (GRCm39) |
H842Q |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,021 (GRCm39) |
S101T |
probably damaging |
Het |
| Rnf103 |
T |
G |
6: 71,486,167 (GRCm39) |
V266G |
probably damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,296,544 (GRCm39) |
D100G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,872 (GRCm39) |
G1822E |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,223,047 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,901,806 (GRCm39) |
R524W |
probably benign |
Het |
| Wnk2 |
G |
T |
13: 49,230,038 (GRCm39) |
P829T |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,582,068 (GRCm39) |
N84S |
possibly damaging |
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 |
|
|
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 |
|
R5791:Tbl3
|
UTSW |
17 |
24,923,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation