Incidental Mutation 'R0305:Tbl3'
ID |
24935 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbl3
|
Ensembl Gene |
ENSMUSG00000040688 |
Gene Name |
transducin (beta)-like 3 |
Synonyms |
9430070M15Rik |
MMRRC Submission |
038516-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R0305 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24919627-24926627 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24924435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 134
(R134C)
|
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 |
probably damaging
Transcript: ENSMUST00000126319
AA Change: R134C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120911 Gene: ENSMUSG00000040688 AA Change: R134C
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: ENSMUST00000149326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142362
|
Meta Mutation Damage Score |
0.4937 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
Validation Efficiency |
100% (59/59) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
G |
A |
7: 27,274,061 (GRCm39) |
R183Q |
probably damaging |
Het |
Abca5 |
A |
G |
11: 110,164,137 (GRCm39) |
|
probably benign |
Het |
Ada |
T |
C |
2: 163,570,077 (GRCm39) |
K312R |
probably benign |
Het |
Adam21 |
C |
A |
12: 81,607,059 (GRCm39) |
K234N |
possibly damaging |
Het |
Afdn |
T |
A |
17: 14,108,776 (GRCm39) |
|
probably null |
Het |
Aimp1 |
T |
G |
3: 132,379,747 (GRCm39) |
K132Q |
possibly damaging |
Het |
Aldh16a1 |
C |
T |
7: 44,797,403 (GRCm39) |
R135Q |
probably damaging |
Het |
Alox12b |
A |
T |
11: 69,058,205 (GRCm39) |
Y519F |
probably benign |
Het |
Alppl2 |
T |
C |
1: 87,017,324 (GRCm39) |
E25G |
probably benign |
Het |
Apob |
A |
T |
12: 8,062,210 (GRCm39) |
N3531I |
probably damaging |
Het |
Arhgap23 |
T |
C |
11: 97,391,935 (GRCm39) |
L321P |
probably damaging |
Het |
Cab39l |
C |
T |
14: 59,757,028 (GRCm39) |
Q137* |
probably null |
Het |
Cenpo |
A |
T |
12: 4,266,660 (GRCm39) |
H149Q |
possibly damaging |
Het |
Cpt1a |
A |
G |
19: 3,428,455 (GRCm39) |
T610A |
probably benign |
Het |
Dcbld2 |
A |
G |
16: 58,269,302 (GRCm39) |
T271A |
probably damaging |
Het |
Dcps |
A |
G |
9: 35,087,065 (GRCm39) |
|
probably null |
Het |
Dnai2 |
A |
G |
11: 114,643,720 (GRCm39) |
D462G |
probably benign |
Het |
Dsg2 |
T |
A |
18: 20,715,752 (GRCm39) |
|
probably benign |
Het |
Eomes |
A |
T |
9: 118,313,825 (GRCm39) |
E623D |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,744,747 (GRCm39) |
H594L |
probably benign |
Het |
Gad1-ps |
T |
G |
10: 99,280,665 (GRCm39) |
|
noncoding transcript |
Het |
Galk2 |
A |
G |
2: 125,729,808 (GRCm39) |
Y63C |
probably damaging |
Het |
H2-T10 |
A |
G |
17: 36,430,260 (GRCm39) |
L227P |
probably damaging |
Het |
Itgb4 |
T |
G |
11: 115,870,238 (GRCm39) |
C73G |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,212,601 (GRCm39) |
H1472R |
possibly damaging |
Het |
Kcnh5 |
C |
T |
12: 75,161,171 (GRCm39) |
A246T |
probably benign |
Het |
Kpna6 |
G |
T |
4: 129,543,042 (GRCm39) |
R458S |
probably benign |
Het |
Lifr |
A |
G |
15: 7,206,982 (GRCm39) |
T498A |
probably damaging |
Het |
Lrrd1 |
T |
G |
5: 3,915,707 (GRCm39) |
I768S |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,452,253 (GRCm39) |
V223A |
probably benign |
Het |
Nod2 |
G |
A |
8: 89,391,951 (GRCm39) |
A731T |
probably damaging |
Het |
Nrxn2 |
G |
A |
19: 6,569,313 (GRCm39) |
C1403Y |
probably damaging |
Het |
Nxph1 |
A |
T |
6: 9,247,754 (GRCm39) |
I242F |
probably damaging |
Het |
Or5p79 |
G |
A |
7: 108,221,792 (GRCm39) |
V258I |
probably benign |
Het |
Pgr |
A |
G |
9: 8,902,088 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
A |
G |
9: 98,946,129 (GRCm39) |
S566P |
possibly damaging |
Het |
Sema4d |
T |
C |
13: 51,866,764 (GRCm39) |
Y242C |
probably damaging |
Het |
Sftpc |
T |
A |
14: 70,761,518 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
T |
G |
5: 35,881,343 (GRCm39) |
E33D |
probably benign |
Het |
Slc17a5 |
A |
G |
9: 78,464,819 (GRCm39) |
L344P |
probably benign |
Het |
Slc39a5 |
T |
A |
10: 128,234,265 (GRCm39) |
|
probably benign |
Het |
Slc7a13 |
C |
A |
4: 19,839,401 (GRCm39) |
H335N |
probably benign |
Het |
Slco1a4 |
A |
C |
6: 141,763,479 (GRCm39) |
N412K |
possibly damaging |
Het |
Sox1 |
A |
T |
8: 12,446,736 (GRCm39) |
T126S |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,081,663 (GRCm39) |
V353E |
probably damaging |
Het |
Stat5b |
T |
C |
11: 100,693,329 (GRCm39) |
E104G |
probably benign |
Het |
Sult4a1 |
A |
G |
15: 83,970,868 (GRCm39) |
V179A |
probably damaging |
Het |
Tafa5 |
T |
A |
15: 87,604,709 (GRCm39) |
I83N |
probably damaging |
Het |
Tmem256 |
T |
A |
11: 69,729,737 (GRCm39) |
|
probably benign |
Het |
Tmigd1 |
A |
G |
11: 76,797,960 (GRCm39) |
T101A |
probably damaging |
Het |
Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
Unc79 |
T |
A |
12: 103,079,459 (GRCm39) |
S1679T |
probably benign |
Het |
Vmn2r1 |
T |
G |
3: 63,997,087 (GRCm39) |
C248G |
probably damaging |
Het |
Vmn2r57 |
T |
C |
7: 41,076,967 (GRCm39) |
I400V |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,246,713 (GRCm39) |
L685H |
probably damaging |
Het |
Yeats4 |
A |
G |
10: 117,051,741 (GRCm39) |
F172S |
probably damaging |
Het |
Zfpm2 |
T |
G |
15: 40,637,431 (GRCm39) |
|
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGGACAGCCAAACATGAGCG -3'
(R):5'- TGTGGAAGGCGATACACACAGC -3'
Sequencing Primer
(F):5'- CCAAACATGAGCGGTCCTG -3'
(R):5'- TACACACAGCTCCTGTGGC -3'
|
Posted On |
2013-04-16 |