Incidental Mutation 'IGL03027:Tbl3'
ID408253
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: 0.971) question?
Stock #IGL03027
Quality Score
Status
Chromosome17
Chromosomal Location24697949-24707660 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to C at 24701193 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 null
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 noncoding transcript
Transcript: ENSMUST00000126342
Predicted Effect probably null
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 A T 17: 43,296,714 Y108F probably damaging Het
Afap1 T C 5: 35,961,750 I243T probably benign Het
Ano5 A G 7: 51,566,277 D320G probably damaging Het
Arhgef1 T A 7: 24,923,732 I423K probably damaging Het
Casp9 A G 4: 141,812,273 E410G probably benign Het
Ccdc39 A C 3: 33,830,118 H358Q probably benign Het
Ces5a A T 8: 93,523,114 probably null Het
Clip1 A T 5: 123,621,856 M935K probably benign Het
Col12a1 A G 9: 79,641,551 Y2171H probably benign Het
Cyp2f2 A T 7: 27,132,571 N417I possibly damaging Het
Dock3 G A 9: 106,993,478 P579L probably damaging Het
Dock7 T C 4: 99,070,213 T334A possibly damaging Het
Dock7 T C 4: 98,977,927 M1209V probably benign Het
Dst A T 1: 34,186,025 I1171F possibly damaging Het
Eya1 G T 1: 14,170,966 H576N probably damaging Het
Fam117a A G 11: 95,377,573 T267A probably benign Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gabra6 T C 11: 42,315,153 H291R probably damaging Het
Gm7145 T C 1: 117,967,687 S27P probably benign Het
Gpt C T 15: 76,698,089 probably benign Het
Grip2 A G 6: 91,778,871 I586T probably benign Het
Hif1a C T 12: 73,940,477 P448L probably benign Het
Hmcn1 C T 1: 150,808,539 V427I probably benign Het
Ipo8 C A 6: 148,777,239 V954L probably benign Het
Kdm5a G T 6: 120,374,990 probably null Het
Klhl36 T A 8: 119,876,490 S495T probably benign Het
Lpar5 T A 6: 125,082,240 L308Q probably damaging Het
Lrp2 T G 2: 69,537,553 D205A probably benign Het
Lrriq1 A G 10: 103,227,196 I83T probably benign Het
Mapk8ip2 A T 15: 89,458,107 D507V probably damaging Het
Mical1 T C 10: 41,479,505 probably benign Het
Myef2 T A 2: 125,089,034 H539L possibly damaging Het
Myh7 T C 14: 54,983,550 E972G probably damaging Het
Naip5 A G 13: 100,223,016 Y571H probably benign Het
Nfasc T A 1: 132,610,469 N478I probably damaging Het
Olfr786 A G 10: 129,436,911 Y33C probably damaging Het
Pde2a A T 7: 101,481,420 Q89L probably benign Het
Ppard C A 17: 28,299,791 T422K possibly damaging Het
Ppp1r13b G T 12: 111,830,396 Y904* probably null Het
Ptx4 T A 17: 25,125,048 I424K possibly damaging Het
Rab19 A G 6: 39,383,993 D25G probably damaging Het
Rbl2 T A 8: 91,078,906 I197N possibly damaging Het
Rttn A G 18: 88,979,690 D273G probably damaging Het
Sec16a G A 2: 26,423,589 R1920C probably benign Het
Sec23b A T 2: 144,587,545 N731I possibly damaging Het
Serpinb9d G A 13: 33,202,715 W255* probably null Het
Sim2 G A 16: 94,109,492 probably benign Het
Tcrg-C1 G T 13: 19,214,393 G97* probably null Het
Tmem176b C T 6: 48,835,639 A131T probably damaging Het
Tmem181a T A 17: 6,298,219 V332D probably damaging Het
Tuba3b T A 6: 145,619,391 L195Q probably damaging Het
Ubc A T 5: 125,387,501 V254D probably damaging Het
Ube4b G T 4: 149,381,277 P239T probably damaging Het
Vars G T 17: 35,013,687 M862I probably damaging Het
Vmn2r66 T C 7: 84,995,569 probably benign Het
Wdr59 G A 8: 111,462,192 A720V probably damaging Het
Zfhx3 G A 8: 108,793,188 R314Q 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
IGL02214:Tbl3 APN 17 24704132 unclassified probably benign
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 On2016-08-02