Incidental Mutation 'R9634:Tbl3'
| ID |
725732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbl3
|
| Ensembl Gene |
ENSMUSG00000040688 |
| Gene Name |
transducin (beta)-like 3 |
| Synonyms |
9430070M15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R9634 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24919627-24926627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24926531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 3
(E3G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126319]
|
| AlphaFold |
Q8C4J7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126319
AA Change: E3G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: E3G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
A |
11: 84,184,816 (GRCm39) |
D1277E |
probably benign |
Het |
| Anapc7 |
T |
C |
5: 122,560,689 (GRCm39) |
S17P |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,060,332 (GRCm39) |
F909S |
probably damaging |
Het |
| Ccnb1 |
G |
A |
13: 100,920,112 (GRCm39) |
A133V |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,832,499 (GRCm39) |
T1125A |
probably damaging |
Het |
| Cyc1 |
A |
G |
15: 76,227,794 (GRCm39) |
T11A |
probably benign |
Het |
| Ddx59 |
G |
A |
1: 136,347,214 (GRCm39) |
A291T |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,338,387 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,169,585 (GRCm39) |
D1952G |
probably damaging |
Het |
| Dpf3 |
A |
G |
12: 83,378,635 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,964,663 (GRCm39) |
I340V |
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,761,230 (GRCm39) |
H410R |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,856,579 (GRCm39) |
K596* |
probably null |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Gbp7 |
T |
A |
3: 142,242,115 (GRCm39) |
V83E |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,601,877 (GRCm39) |
V169A |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,682,723 (GRCm39) |
H303R |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,027,727 (GRCm39) |
*734R |
probably null |
Het |
| Il2ra |
C |
T |
2: 11,685,227 (GRCm39) |
R188* |
probably null |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,318,606 (GRCm39) |
T210A |
|
Het |
| Itpkc |
A |
G |
7: 26,913,880 (GRCm39) |
I527T |
probably benign |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Loxl3 |
C |
T |
6: 83,027,835 (GRCm39) |
T749I |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,135,951 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
A |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
| Nkain2 |
G |
A |
10: 32,766,262 (GRCm39) |
P66L |
unknown |
Het |
| Nubpl |
T |
C |
12: 52,349,494 (GRCm39) |
F242L |
probably benign |
Het |
| Or4f4-ps1 |
T |
C |
2: 111,330,131 (GRCm39) |
V178A |
possibly damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,907 (GRCm39) |
S215P |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,568,869 (GRCm39) |
I273T |
probably benign |
Het |
| Paip2b |
T |
C |
6: 83,787,023 (GRCm39) |
D71G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,152 (GRCm39) |
E1584G |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,152,196 (GRCm39) |
D271G |
probably damaging |
Het |
| Prkag2 |
A |
G |
5: 25,074,238 (GRCm39) |
I489T |
possibly damaging |
Het |
| Ptpn2 |
C |
T |
18: 67,808,789 (GRCm39) |
|
probably null |
Het |
| Rims3 |
G |
A |
4: 120,748,517 (GRCm39) |
R246H |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,907,590 (GRCm39) |
T1466P |
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,978 (GRCm39) |
S151P |
unknown |
Het |
| Tmem260 |
C |
A |
14: 48,709,816 (GRCm39) |
A123E |
probably damaging |
Het |
| Trim45 |
T |
C |
3: 100,839,306 (GRCm39) |
V736A |
unknown |
Het |
| Vps8 |
T |
C |
16: 21,372,893 (GRCm39) |
L1033P |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
A |
G |
18: 45,006,037 (GRCm39) |
T1177A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,056 (GRCm39) |
Y194H |
probably 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 |
|
|
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 |
|
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 |
|
|
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'- CTTAGCACTAAACAGCAGCTG -3'
(R):5'- TAAGACGTTCTACTGCCAGCTG -3'
Sequencing Primer
(F):5'- ACAGCAGCTGTTCACAGG -3'
(R):5'- CACACTGGATATGCCTTCGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation