Incidental Mutation 'R2342:Tbl2'
| ID |
246782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbl2
|
| Ensembl Gene |
ENSMUSG00000005374 |
| Gene Name |
transducin (beta)-like 2 |
| Synonyms |
C76179, WS-bTRP |
| MMRRC Submission |
040328-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R2342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135178288-135192727 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 135187607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 288
(R288Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005508]
[ENSMUST00000139565]
[ENSMUST00000152013]
[ENSMUST00000153183]
[ENSMUST00000201780]
|
| AlphaFold |
Q9R099 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005508
|
| SMART Domains |
Protein: ENSMUSP00000005508
Gene: ENSMUSG00000005374
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
59 |
N/A |
INTRINSIC |
|
WD40
|
75 |
114 |
1.89e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139565
|
| SMART Domains |
Protein: ENSMUSP00000120685
Gene: ENSMUSG00000005374
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152013
|
| SMART Domains |
Protein: ENSMUSP00000118691
Gene: ENSMUSG00000005374
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
24 |
N/A |
INTRINSIC |
|
WD40
|
40 |
79 |
1.89e-9 |
SMART |
|
Blast:WD40
|
87 |
126 |
3e-15 |
BLAST |
|
WD40
|
138 |
177 |
1.67e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153183
AA Change: R288Q
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115011
Gene: ENSMUSG00000005374
AA Change: R288Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
59 |
N/A |
INTRINSIC |
|
WD40
|
75 |
114 |
1.89e-9 |
SMART |
|
Blast:WD40
|
122 |
161 |
5e-14 |
BLAST |
|
WD40
|
173 |
212 |
1.67e-1 |
SMART |
|
WD40
|
214 |
253 |
2.38e1 |
SMART |
|
WD40
|
264 |
303 |
6.04e-8 |
SMART |
|
Blast:WD40
|
313 |
353 |
4e-16 |
BLAST |
|
WD40
|
358 |
395 |
1.28e0 |
SMART |
|
coiled coil region
|
411 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201780
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
C |
T |
13: 98,130,537 (GRCm39) |
E434K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,515 (GRCm39) |
M236K |
probably benign |
Het |
| Camk1 |
T |
C |
6: 113,318,942 (GRCm39) |
|
probably benign |
Het |
| Chd8 |
A |
C |
14: 52,442,674 (GRCm39) |
N625K |
probably benign |
Het |
| Dcaf8 |
A |
G |
1: 172,013,928 (GRCm39) |
H373R |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,802,896 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
C |
T |
4: 141,050,842 (GRCm39) |
A866V |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,930,592 (GRCm39) |
Y237* |
probably null |
Het |
| Glg1 |
A |
T |
8: 111,914,439 (GRCm39) |
C448* |
probably null |
Het |
| Gm4787 |
G |
T |
12: 81,425,532 (GRCm39) |
R209S |
possibly damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,284,721 (GRCm39) |
L358P |
probably damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,063 (GRCm39) |
T315I |
possibly damaging |
Het |
| Irak2 |
C |
A |
6: 113,670,632 (GRCm39) |
T539K |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,809,208 (GRCm39) |
G2568C |
possibly damaging |
Het |
| Meis1 |
C |
T |
11: 18,831,647 (GRCm39) |
A464T |
probably damaging |
Het |
| Or10g1b |
C |
A |
14: 52,627,322 (GRCm39) |
A303S |
possibly damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,116 (GRCm39) |
D317G |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,817,152 (GRCm39) |
S179P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,691 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,204,049 (GRCm39) |
V174D |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,574,652 (GRCm39) |
K648E |
possibly damaging |
Het |
| Rtf1 |
A |
G |
2: 119,542,598 (GRCm39) |
T301A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,747,207 (GRCm39) |
V528A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,540 (GRCm39) |
V308A |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,354,680 (GRCm39) |
V335A |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 113,034,180 (GRCm39) |
T316S |
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,353,599 (GRCm39) |
K1469E |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,501,316 (GRCm39) |
Y92H |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,923 (GRCm39) |
E80G |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,330,255 (GRCm39) |
P538S |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,804,113 (GRCm39) |
H454Y |
probably damaging |
Het |
|
| Other mutations in Tbl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01390:Tbl2
|
APN |
5 |
135,185,217 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02669:Tbl2
|
APN |
5 |
135,181,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Tbl2
|
UTSW |
5 |
135,188,246 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1909:Tbl2
|
UTSW |
5 |
135,181,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Tbl2
|
UTSW |
5 |
135,186,454 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2156:Tbl2
|
UTSW |
5 |
135,185,374 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2392:Tbl2
|
UTSW |
5 |
135,185,368 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3813:Tbl2
|
UTSW |
5 |
135,185,375 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5560:Tbl2
|
UTSW |
5 |
135,186,445 (GRCm39) |
nonsense |
probably null |
|
|
R6301:Tbl2
|
UTSW |
5 |
135,188,223 (GRCm39) |
missense |
probably benign |
|
|
R6723:Tbl2
|
UTSW |
5 |
135,188,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6816:Tbl2
|
UTSW |
5 |
135,188,069 (GRCm39) |
splice site |
probably null |
|
|
R7136:Tbl2
|
UTSW |
5 |
135,178,682 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7288:Tbl2
|
UTSW |
5 |
135,183,253 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7720:Tbl2
|
UTSW |
5 |
135,188,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Tbl2
|
UTSW |
5 |
135,187,471 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0024:Tbl2
|
UTSW |
5 |
135,188,445 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCCCGGCTAACATTTGAG -3'
(R):5'- TCCACCCTTTTCAGAACTGCAG -3'
Sequencing Primer
(F):5'- GCCCGGCTAACATTTGAGTTTTAAG -3'
(R):5'- TCACTGTAAGTTCAAGGGCAGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation