Incidental Mutation 'R2851:Tbl3'
| ID |
252260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbl3
|
| Ensembl Gene |
ENSMUSG00000040688 |
| Gene Name |
transducin (beta)-like 3 |
| Synonyms |
9430070M15Rik |
| MMRRC Submission |
040444-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R2851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24919627-24926627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24921557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 445
(T445A)
|
| 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: T445A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: T445A
| 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 |
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: ENSMUST00000149326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150132
|
| Meta Mutation Damage Score |
0.6560 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (61/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
| Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
| Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
| Ceacam11 |
T |
C |
7: 17,712,451 (GRCm39) |
I300T |
probably benign |
Het |
| Cmtm5 |
A |
G |
14: 55,175,512 (GRCm39) |
|
probably benign |
Het |
| Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,585,614 (GRCm39) |
N1254K |
probably damaging |
Het |
| Crispld2 |
T |
A |
8: 120,740,828 (GRCm39) |
L107Q |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Cyp1b1 |
T |
C |
17: 80,017,649 (GRCm39) |
N502S |
probably benign |
Het |
| Cyp51 |
A |
T |
5: 4,149,183 (GRCm39) |
D231E |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,423,915 (GRCm39) |
T1677A |
possibly damaging |
Het |
| Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,509 (GRCm39) |
D250G |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,678,778 (GRCm39) |
N200S |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,337,045 (GRCm39) |
|
probably benign |
Het |
| Gmcl1 |
A |
C |
6: 86,703,159 (GRCm39) |
S92A |
probably damaging |
Het |
| Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Il19 |
A |
G |
1: 130,863,694 (GRCm39) |
V99A |
possibly damaging |
Het |
| Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
| Itgad |
T |
A |
7: 127,803,732 (GRCm39) |
V42E |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
| Mfsd4b2 |
T |
A |
10: 39,798,119 (GRCm39) |
S79C |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mthfsd |
G |
A |
8: 121,832,512 (GRCm39) |
T60I |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
| Nceh1 |
A |
G |
3: 27,295,504 (GRCm39) |
Y255C |
probably damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,257,113 (GRCm39) |
V129I |
probably damaging |
Het |
| Ndufb5 |
T |
C |
3: 32,800,600 (GRCm39) |
F58L |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
A |
11: 58,920,844 (GRCm39) |
|
probably null |
Het |
| Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,610,853 (GRCm39) |
E377G |
possibly damaging |
Het |
| Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
| Ppa2 |
A |
T |
3: 133,026,764 (GRCm39) |
|
probably null |
Het |
| Proser1 |
G |
A |
3: 53,387,966 (GRCm39) |
A885T |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,758,776 (GRCm39) |
I665T |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
G |
A |
13: 51,808,671 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
| Srprb |
G |
A |
9: 103,076,038 (GRCm39) |
Q800* |
probably null |
Het |
| Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
| Tdrd12 |
G |
A |
7: 35,184,798 (GRCm39) |
T705M |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
| Timm22 |
G |
A |
11: 76,304,925 (GRCm39) |
A188T |
probably damaging |
Het |
| Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
| Tmprss12 |
C |
A |
15: 100,180,296 (GRCm39) |
T112K |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,382,735 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,230,036 (GRCm39) |
E25D |
probably benign |
Het |
| Wdr62 |
A |
T |
7: 29,960,862 (GRCm39) |
N22K |
possibly damaging |
Het |
| Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
| Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTTGATGTCCTGGTGAC -3'
(R):5'- TAGTATCCTTCGGCCTGAGC -3'
Sequencing Primer
(F):5'- GTCCTGGTGACGAAAGCAG -3'
(R):5'- AGACAGGGTTTCTCTGTATAGCCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation