Incidental Mutation 'IGL02214:Tbl3'
ID284810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbl3
Ensembl Gene ENSMUSG00000040688
Gene Nametransducin (beta)-like 3
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.973) question?
Stock #IGL02214
Quality Score
Status
Chromosome17
Chromosomal Location24697949-24707660 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 24704132 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000019464] [ENSMUST00000126319]
Predicted Effect probably benign
Transcript: ENSMUST00000019464
SMART Domains Protein: ENSMUSP00000019464
Gene: ENSMUSG00000019320

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000126319
SMART Domains Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000141095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152527
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,574,724 probably benign Het
A330008L17Rik T A 8: 99,421,758 noncoding transcript Het
A930004D18Rik A G 2: 18,027,256 L17P unknown Het
Abca14 A T 7: 120,294,175 M1283L probably benign Het
Adarb1 A T 10: 77,322,301 V104E probably damaging Het
Ano1 T A 7: 144,655,708 N252Y possibly damaging Het
Atp6v0a1 A G 11: 101,039,840 S498G probably benign Het
Bdp1 A G 13: 100,041,535 V1942A probably benign Het
Carf T A 1: 60,148,081 D579E probably damaging Het
Cltc A T 11: 86,732,586 S200R probably benign Het
Cpeb1 T C 7: 81,372,057 S113G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ehd3 T A 17: 73,820,546 L158H probably damaging Het
Etfa C A 9: 55,464,811 G289W probably damaging Het
Fndc3c1 G A X: 106,425,829 T1029I probably benign Het
Gipr C A 7: 19,157,546 G402V possibly damaging Het
Gm5724 T A 6: 141,723,185 D507V possibly damaging Het
Hacd1 C T 2: 14,026,947 V242M probably damaging Het
Hecw1 A G 13: 14,300,393 L520P probably damaging Het
Ibtk A T 9: 85,714,179 probably benign Het
Igkv16-104 A C 6: 68,425,794 I24L probably benign Het
Kcnh8 A T 17: 52,877,911 Y407F possibly damaging Het
Mansc1 C T 6: 134,610,360 V285M probably benign Het
Mindy4 A G 6: 55,216,651 R110G possibly damaging Het
Morn1 C T 4: 155,092,319 H100Y probably damaging Het
Naip6 A T 13: 100,316,059 S165T probably damaging Het
Olfr1110 T G 2: 87,135,505 K272T probably damaging Het
Olfr538 A T 7: 140,574,557 R135* probably null Het
Prx G T 7: 27,518,912 R946M probably damaging Het
Ptchd1 A G X: 155,573,710 V833A possibly damaging Het
Rgl2 A G 17: 33,935,189 D481G probably benign Het
Serpinb3a A G 1: 107,048,488 probably null Het
Shtn1 T C 19: 58,999,886 probably benign Het
Sult1b1 C T 5: 87,535,090 probably benign Het
Trappc9 C T 15: 73,012,882 W416* probably null Het
Ubr4 G A 4: 139,461,827 probably null Het
Ubr4 T C 4: 139,428,583 Y2240H possibly damaging Het
Vmn2r76 A C 7: 86,229,930 F387L probably benign Het
Vps8 G A 16: 21,517,285 C729Y probably damaging Het
Other mutations in Tbl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Tbl3 APN 17 24701905 splice site probably benign
IGL01092:Tbl3 APN 17 24705252 missense probably damaging 1.00
IGL01601:Tbl3 APN 17 24702317 missense probably damaging 1.00
IGL01610:Tbl3 APN 17 24704044 missense probably damaging 1.00
IGL03027:Tbl3 APN 17 24701193 critical splice acceptor site probably null
FR4449:Tbl3 UTSW 17 24702544 unclassified probably benign
R0230:Tbl3 UTSW 17 24701333 missense probably damaging 1.00
R0288:Tbl3 UTSW 17 24701807 missense probably damaging 1.00
R0305:Tbl3 UTSW 17 24705461 missense probably damaging 1.00
R1104:Tbl3 UTSW 17 24701606 missense probably benign 0.02
R1920:Tbl3 UTSW 17 24704503 missense probably benign 0.04
R2513:Tbl3 UTSW 17 24704550 critical splice acceptor site probably null
R2570:Tbl3 UTSW 17 24703316 missense possibly damaging 0.47
R2851:Tbl3 UTSW 17 24702583 missense probably damaging 1.00
R3905:Tbl3 UTSW 17 24702032 missense probably damaging 1.00
R3944:Tbl3 UTSW 17 24700708 missense possibly damaging 0.94
R4019:Tbl3 UTSW 17 24704721 missense probably damaging 0.98
R4745:Tbl3 UTSW 17 24705330 unclassified probably benign
R5288:Tbl3 UTSW 17 24705970 missense possibly damaging 0.88
R5605:Tbl3 UTSW 17 24700759 missense probably benign 0.06
R5791:Tbl3 UTSW 17 24704434 missense probably damaging 0.99
R6236:Tbl3 UTSW 17 24700743 missense probably benign 0.12
R6302:Tbl3 UTSW 17 24704671 missense probably benign 0.05
R6938:Tbl3 UTSW 17 24705213 missense possibly damaging 0.61
R7173:Tbl3 UTSW 17 24705259 missense probably benign
R7176:Tbl3 UTSW 17 24700758 missense probably benign 0.01
R7382:Tbl3 UTSW 17 24705291 missense probably benign 0.21
R7555:Tbl3 UTSW 17 24701976 critical splice donor site probably null
R7732:Tbl3 UTSW 17 24704162 missense probably benign 0.00
R7780:Tbl3 UTSW 17 24702231 missense probably damaging 1.00
R7899:Tbl3 UTSW 17 24702484 missense probably damaging 1.00
R8108:Tbl3 UTSW 17 24700916 missense probably benign
RF005:Tbl3 UTSW 17 24702541 unclassified probably benign
X0022:Tbl3 UTSW 17 24705573 nonsense probably null
X0028:Tbl3 UTSW 17 24702321 missense probably damaging 0.99
Posted On2015-04-16