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) question?
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

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 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

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: 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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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