Incidental Mutation 'R0230:Tbl3'
ID 34088
Institutional Source Beutler Lab
Gene Symbol Tbl3
Ensembl Gene ENSMUSG00000040688
Gene Name transducin (beta)-like 3
Synonyms 9430070M15Rik
MMRRC Submission 038473-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R0230 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24919627-24926627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24920307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 670 (L670P)
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 noncoding transcript
Transcript: ENSMUST00000124864
Predicted Effect probably damaging
Transcript: ENSMUST00000126319
AA Change: L670P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: L670P

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 unknown
Transcript: ENSMUST00000130633
AA Change: L207P
SMART Domains Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688
AA Change: L207P

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: ENSMUST00000150132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141522
Meta Mutation Damage Score 0.6945 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 100% (83/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amy1 T C 3: 113,352,079 (GRCm39) D371G probably benign Het
Asrgl1 T A 19: 9,095,883 (GRCm39) probably benign Het
Asxl3 T A 18: 22,585,383 (GRCm39) probably benign Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Bbof1 A G 12: 84,471,978 (GRCm39) H74R probably damaging Het
Bpifb9b C T 2: 154,158,995 (GRCm39) T504M probably damaging Het
Cdk12 T G 11: 98,094,817 (GRCm39) S208R probably damaging Het
Cdk5r1 T C 11: 80,368,576 (GRCm39) L81P probably damaging Het
Chrd T C 16: 20,552,025 (GRCm39) L43P probably benign Het
Col6a4 A C 9: 105,949,565 (GRCm39) M690R probably benign Het
Cyp39a1 A T 17: 44,042,903 (GRCm39) R418W probably damaging Het
Dars2 C T 1: 160,890,357 (GRCm39) V162M probably benign Het
Dixdc1 C T 9: 50,606,807 (GRCm39) V270M possibly damaging Het
Dnah11 C A 12: 117,946,791 (GRCm39) E1194* probably null Het
Dnah7b T C 1: 46,258,508 (GRCm39) S1900P probably damaging Het
Dnah9 C T 11: 65,746,141 (GRCm39) E3991K probably damaging Het
Dsp A T 13: 38,381,681 (GRCm39) I2210F probably benign Het
Ebf1 A G 11: 44,886,949 (GRCm39) S556G probably damaging Het
Enam G A 5: 88,637,514 (GRCm39) probably benign Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Epc1 T C 18: 6,440,168 (GRCm39) D579G probably damaging Het
Ephb3 A T 16: 21,039,525 (GRCm39) I426F probably damaging Het
Fam135b T G 15: 71,317,886 (GRCm39) I1359L probably benign Het
Fcgbpl1 T A 7: 27,856,250 (GRCm39) H2012Q probably damaging Het
Gm16519 T C 17: 71,236,128 (GRCm39) S26P probably benign Het
Gm17622 T A 13: 96,627,594 (GRCm39) probably null Het
Gpat2 G A 2: 127,277,765 (GRCm39) V764I possibly damaging Het
Gpx4 G A 10: 79,890,838 (GRCm39) A81T probably benign Het
Gss C A 2: 155,420,326 (GRCm39) R83L probably damaging Het
Hcls1 C A 16: 36,758,216 (GRCm39) Q36K probably damaging Het
Hepacam2 A G 6: 3,463,336 (GRCm39) V438A probably benign Het
Hnf4a T C 2: 163,401,005 (GRCm39) F184S probably damaging Het
Katnal1 T A 5: 148,855,460 (GRCm39) D90V possibly damaging Het
Kcnt2 A G 1: 140,174,083 (GRCm39) D30G probably benign Het
Kyat1 T C 2: 30,084,087 (GRCm39) E11G probably benign Het
Lefty1 T A 1: 180,764,579 (GRCm39) V168E probably damaging Het
Map2k6 C T 11: 110,387,281 (GRCm39) P218S probably damaging Het
Mlkl C G 8: 112,041,694 (GRCm39) K415N probably benign Het
Myh7 A T 14: 55,211,390 (GRCm39) M1593K probably benign Het
Myo19 T A 11: 84,784,159 (GRCm39) C186S possibly damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nkiras1 A G 14: 18,280,185 (GRCm38) N192S probably benign Het
Or1j17 G A 2: 36,578,628 (GRCm39) V205M probably benign Het
Or2n1 A G 17: 38,486,841 (GRCm39) I289V probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or8u9 T C 2: 86,001,886 (GRCm39) I92V probably benign Het
Pdcd6ip A G 9: 113,514,361 (GRCm39) probably benign Het
Pde4b T C 4: 102,454,707 (GRCm39) Y186H probably benign Het
Pex7 A G 10: 19,780,331 (GRCm39) V101A possibly damaging Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Plxnc1 A G 10: 94,635,209 (GRCm39) V1339A probably benign Het
Proser1 A G 3: 53,386,383 (GRCm39) N755S probably damaging Het
Ptpn13 A G 5: 103,674,997 (GRCm39) D658G probably damaging Het
Rassf8 A C 6: 145,765,700 (GRCm39) probably benign Het
Rfc4 G A 16: 22,932,849 (GRCm39) Q363* probably null Het
Rxfp1 T C 3: 79,552,282 (GRCm39) N673S probably damaging Het
Scn7a T C 2: 66,556,628 (GRCm39) E319G probably damaging Het
Scnn1g A G 7: 121,345,984 (GRCm39) probably benign Het
Scube2 C T 7: 109,423,971 (GRCm39) probably null Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc6a13 A G 6: 121,301,262 (GRCm39) N184D probably benign Het
Slco1a5 T A 6: 142,182,054 (GRCm39) probably benign Het
Slf1 T A 13: 77,260,867 (GRCm39) probably benign Het
Smarca4 G A 9: 21,612,168 (GRCm39) V1518I probably damaging Het
Smyd3 A G 1: 179,250,993 (GRCm39) probably benign Het
Sox5 A G 6: 144,155,064 (GRCm39) F11L probably benign Het
Spag17 T C 3: 100,014,143 (GRCm39) S2139P probably benign Het
Spice1 A T 16: 44,185,939 (GRCm39) probably benign Het
Sptan1 T A 2: 29,900,704 (GRCm39) probably benign Het
Srebf2 T A 15: 82,066,286 (GRCm39) N571K probably damaging Het
Tmem45a2 A G 16: 56,867,359 (GRCm39) V114A possibly damaging Het
Tmigd3 A G 3: 105,826,053 (GRCm39) N132D possibly damaging Het
Ttn T C 2: 76,567,778 (GRCm39) D19378G probably damaging Het
Ugcg C A 4: 59,189,739 (GRCm39) Y32* probably null Het
Ush2a C T 1: 188,582,301 (GRCm39) P3788L probably damaging Het
Usp22 T A 11: 61,050,023 (GRCm39) probably benign Het
Xaf1 T C 11: 72,197,381 (GRCm39) probably benign Het
Zbtb41 C T 1: 139,374,673 (GRCm39) T711I probably damaging Het
Zfp457 T C 13: 67,442,180 (GRCm39) T132A possibly damaging Het
Zfp64 T G 2: 168,754,150 (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
R0288:Tbl3 UTSW 17 24,920,781 (GRCm39) missense probably damaging 1.00
R0305:Tbl3 UTSW 17 24,924,435 (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'- TCTCTTCGCAGTCGGAGTACAGTG -3'
(R):5'- TTTGATCCCAGGATGTGACAGAAGC -3'

Sequencing Primer
(F):5'- AGTACAGTGGCTTCCAGCTTC -3'
(R):5'- TGCATCTAGTAGCAGCAGC -3'
Posted On 2013-05-09