Incidental Mutation 'IGL01390:Tbl2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbl2
Ensembl Gene ENSMUSG00000005374
Gene Nametransducin (beta)-like 2
SynonymsC76179, WS-bTRP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL01390
Quality Score
Chromosomal Location135149657-135165760 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 135156363 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005508] [ENSMUST00000139565] [ENSMUST00000152013] [ENSMUST00000153183] [ENSMUST00000201780]
Predicted Effect probably benign
Transcript: ENSMUST00000005508
SMART Domains Protein: ENSMUSP00000005508
Gene: ENSMUSG00000005374

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

transmembrane domain 10 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152013
SMART Domains Protein: ENSMUSP00000118691
Gene: ENSMUSG00000005374

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 probably benign
Transcript: ENSMUST00000153183
SMART Domains Protein: ENSMUSP00000115011
Gene: ENSMUSG00000005374

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0a1 A G 11: 101,043,802 K565R probably benign Het
Cacna2d3 T C 14: 28,943,591 T158A possibly damaging Het
Ccdc129 C T 6: 55,897,998 P311L probably benign Het
Dnah5 A G 15: 28,411,540 D3685G probably benign Het
Dock1 T C 7: 134,745,047 I236T possibly damaging Het
Dock6 A G 9: 21,803,045 V1803A probably damaging Het
Epb41 T C 4: 132,003,737 I178V probably benign Het
Gm10110 C A 14: 89,898,241 noncoding transcript Het
Hist1h2ac T C 13: 23,683,516 probably benign Het
Hoxb7 A C 11: 96,287,011 N95T probably benign Het
Ikzf2 C A 1: 69,570,642 C116F probably damaging Het
Ints8 A T 4: 11,218,679 probably benign Het
Man2a1 T C 17: 64,710,705 Y649H probably benign Het
Mcm8 T C 2: 132,838,078 probably benign Het
Msi1 T A 5: 115,438,721 D137E possibly damaging Het
Olfr1037 T C 2: 86,085,640 I46V probably benign Het
Pde6c A G 19: 38,161,928 Y507C probably benign Het
Prl7d1 A G 13: 27,710,166 V140A possibly damaging Het
Rb1 T A 14: 73,294,999 I132F probably benign Het
Rgl1 A G 1: 152,571,588 probably benign Het
Rpl18a G T 8: 70,895,510 probably benign Het
Sf3b1 T C 1: 54,987,429 I1274V probably benign Het
Slc9a3 A C 13: 74,150,761 I100L probably benign Het
Sorcs3 T A 19: 48,790,131 Y996N probably damaging Het
Sra1 A G 18: 36,670,081 L37P probably damaging Het
Stim1 A G 7: 102,427,162 Q440R possibly damaging Het
Tacc3 C T 5: 33,668,061 probably benign Het
Tas2r104 T A 6: 131,685,485 Y87F probably benign Het
Vsig10l C T 7: 43,466,465 S410F probably damaging Het
Other mutations in Tbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02669:Tbl2 APN 5 135152998 missense probably damaging 1.00
R1160:Tbl2 UTSW 5 135159392 missense probably benign 0.01
R1909:Tbl2 UTSW 5 135152991 missense probably damaging 1.00
R1945:Tbl2 UTSW 5 135157600 missense possibly damaging 0.56
R2156:Tbl2 UTSW 5 135156520 critical splice donor site probably null
R2342:Tbl2 UTSW 5 135158753 missense possibly damaging 0.81
R2392:Tbl2 UTSW 5 135156514 missense probably benign 0.10
R3813:Tbl2 UTSW 5 135156521 critical splice donor site probably null
R5560:Tbl2 UTSW 5 135157591 nonsense probably null
R6301:Tbl2 UTSW 5 135159369 missense probably benign
R6723:Tbl2 UTSW 5 135159276 missense probably damaging 1.00
R6816:Tbl2 UTSW 5 135159215 splice site probably null
R7136:Tbl2 UTSW 5 135149828 missense probably benign 0.23
R7288:Tbl2 UTSW 5 135154399 missense possibly damaging 0.92
R7720:Tbl2 UTSW 5 135159475 missense probably damaging 1.00
X0024:Tbl2 UTSW 5 135159591 missense possibly damaging 0.49
Posted On2013-11-05