Incidental Mutation 'R4877:Tle3'
ID 374997
Institutional Source Beutler Lab
Gene Symbol Tle3
Ensembl Gene ENSMUSG00000032280
Gene Name transducin-like enhancer of split 3
Synonyms 2610103N05Rik, ESG, Grg3a, Grg3b
MMRRC Submission 042486-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4877 (G1)
Quality Score 184
Status Not validated
Chromosome 9
Chromosomal Location 61279648-61325779 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 61280781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034820] [ENSMUST00000159050] [ENSMUST00000159386] [ENSMUST00000159630] [ENSMUST00000160541] [ENSMUST00000160724] [ENSMUST00000160882] [ENSMUST00000161207] [ENSMUST00000162583] [ENSMUST00000162973] [ENSMUST00000161689] [ENSMUST00000162127] [ENSMUST00000161194] [ENSMUST00000161993] [ENSMUST00000178113]
AlphaFold Q08122
Predicted Effect probably benign
Transcript: ENSMUST00000034820
SMART Domains Protein: ENSMUSP00000034820
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 136 4.3e-77 PFAM
low complexity region 161 179 N/A INTRINSIC
low complexity region 195 207 N/A INTRINSIC
low complexity region 283 302 N/A INTRINSIC
WD40 468 505 2.96e-2 SMART
WD40 511 552 4.48e-2 SMART
WD40 557 596 2.84e-4 SMART
WD40 599 638 7.55e-9 SMART
WD40 641 679 3.07e1 SMART
WD40 681 720 4.18e-2 SMART
WD40 721 761 1.79e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098658
SMART Domains Protein: ENSMUSP00000096255
Gene: ENSMUSG00000074256

DomainStartEndE-ValueType
low complexity region 50 59 N/A INTRINSIC
low complexity region 88 105 N/A INTRINSIC
low complexity region 115 125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159050
SMART Domains Protein: ENSMUSP00000125032
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 136 2.1e-77 PFAM
low complexity region 161 179 N/A INTRINSIC
low complexity region 195 207 N/A INTRINSIC
low complexity region 283 302 N/A INTRINSIC
WD40 471 508 2.96e-2 SMART
WD40 514 555 4.48e-2 SMART
WD40 560 599 2.84e-4 SMART
WD40 602 641 7.55e-9 SMART
WD40 644 682 3.07e1 SMART
WD40 684 723 4.18e-2 SMART
WD40 724 764 1.79e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159386
SMART Domains Protein: ENSMUSP00000125049
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 136 2.1e-77 PFAM
low complexity region 161 179 N/A INTRINSIC
low complexity region 195 207 N/A INTRINSIC
low complexity region 283 302 N/A INTRINSIC
WD40 464 501 2.96e-2 SMART
WD40 507 548 4.48e-2 SMART
WD40 553 592 2.84e-4 SMART
WD40 595 634 7.55e-9 SMART
WD40 637 675 3.07e1 SMART
WD40 677 716 4.18e-2 SMART
WD40 717 757 1.79e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159630
SMART Domains Protein: ENSMUSP00000123723
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 79 1.7e-43 PFAM
low complexity region 104 122 N/A INTRINSIC
low complexity region 138 150 N/A INTRINSIC
low complexity region 226 245 N/A INTRINSIC
WD40 416 453 2.96e-2 SMART
WD40 459 500 4.48e-2 SMART
WD40 505 544 2.84e-4 SMART
WD40 547 586 7.55e-9 SMART
WD40 589 627 3.07e1 SMART
WD40 629 668 4.18e-2 SMART
WD40 669 709 1.79e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160541
SMART Domains Protein: ENSMUSP00000124158
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 80 3.7e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160724
SMART Domains Protein: ENSMUSP00000124055
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 145 1.9e-77 PFAM
low complexity region 170 188 N/A INTRINSIC
low complexity region 204 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187131
Predicted Effect probably benign
Transcript: ENSMUST00000160882
SMART Domains Protein: ENSMUSP00000124131
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 146 4.8e-76 PFAM
low complexity region 171 189 N/A INTRINSIC
low complexity region 205 217 N/A INTRINSIC
low complexity region 293 312 N/A INTRINSIC
WD40 486 523 2.96e-2 SMART
WD40 529 570 4.48e-2 SMART
WD40 575 614 2.84e-4 SMART
WD40 617 656 7.55e-9 SMART
WD40 659 697 3.07e1 SMART
WD40 699 738 4.18e-2 SMART
WD40 739 779 1.79e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161207
SMART Domains Protein: ENSMUSP00000124557
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 129 1e-73 PFAM
low complexity region 154 172 N/A INTRINSIC
low complexity region 188 200 N/A INTRINSIC
low complexity region 276 295 N/A INTRINSIC
WD40 466 503 2.96e-2 SMART
WD40 509 550 4.48e-2 SMART
WD40 555 594 2.84e-4 SMART
WD40 597 636 7.55e-9 SMART
WD40 639 677 3.07e1 SMART
WD40 679 718 4.18e-2 SMART
WD40 719 759 1.79e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162583
SMART Domains Protein: ENSMUSP00000124977
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 136 3.9e-77 PFAM
low complexity region 161 179 N/A INTRINSIC
low complexity region 195 207 N/A INTRINSIC
low complexity region 283 302 N/A INTRINSIC
WD40 473 510 2.96e-2 SMART
WD40 516 557 4.48e-2 SMART
WD40 562 601 2.84e-4 SMART
WD40 604 643 7.55e-9 SMART
WD40 646 684 3.07e1 SMART
WD40 686 725 4.18e-2 SMART
WD40 726 766 1.79e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162973
SMART Domains Protein: ENSMUSP00000124173
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 136 3.9e-77 PFAM
low complexity region 161 179 N/A INTRINSIC
low complexity region 195 207 N/A INTRINSIC
low complexity region 283 302 N/A INTRINSIC
WD40 476 513 2.96e-2 SMART
WD40 519 560 4.48e-2 SMART
WD40 565 604 2.84e-4 SMART
WD40 607 646 7.55e-9 SMART
WD40 649 687 3.07e1 SMART
WD40 689 728 4.18e-2 SMART
WD40 729 769 1.79e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161689
SMART Domains Protein: ENSMUSP00000125011
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 80 4.8e-44 PFAM
low complexity region 105 123 N/A INTRINSIC
low complexity region 139 151 N/A INTRINSIC
low complexity region 227 246 N/A INTRINSIC
WD40 420 457 2.96e-2 SMART
WD40 463 504 4.48e-2 SMART
WD40 509 548 2.84e-4 SMART
WD40 551 590 7.55e-9 SMART
WD40 593 631 3.07e1 SMART
WD40 633 672 4.18e-2 SMART
WD40 673 713 1.79e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162127
SMART Domains Protein: ENSMUSP00000124150
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 83 1.2e-37 PFAM
low complexity region 108 126 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
low complexity region 230 249 N/A INTRINSIC
WD40 406 443 2.96e-2 SMART
WD40 449 490 4.48e-2 SMART
WD40 495 534 2.84e-4 SMART
WD40 537 576 7.55e-9 SMART
WD40 579 617 3.07e1 SMART
WD40 619 658 4.18e-2 SMART
WD40 659 699 1.79e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161194
SMART Domains Protein: ENSMUSP00000125537
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 53 7.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161993
SMART Domains Protein: ENSMUSP00000124432
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 135 2e-77 PFAM
low complexity region 160 178 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 282 301 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178113
SMART Domains Protein: ENSMUSP00000136010
Gene: ENSMUSG00000032280

DomainStartEndE-ValueType
Pfam:TLE_N 1 143 6e-73 PFAM
low complexity region 171 189 N/A INTRINSIC
low complexity region 204 218 N/A INTRINSIC
low complexity region 294 313 N/A INTRINSIC
WD40 487 524 2.96e-2 SMART
WD40 530 571 4.48e-2 SMART
WD40 576 615 2.84e-4 SMART
WD40 618 657 7.55e-9 SMART
WD40 660 698 3.07e1 SMART
WD40 700 739 4.18e-2 SMART
WD40 740 780 1.79e-1 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 100% (76/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homzoygous for a gene trap allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,258,421 (GRCm39) Y475H probably damaging Het
Adamts12 G T 15: 11,327,787 (GRCm39) G1388V probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Arhgap26 T C 18: 39,429,982 (GRCm39) probably null Het
Atp7b T A 8: 22,518,617 (GRCm39) I74F probably damaging Het
Bod1l A G 5: 41,977,337 (GRCm39) Y1326H probably benign Het
Card11 T C 5: 140,871,632 (GRCm39) S690G probably damaging Het
Cbx3 A G 6: 51,459,540 (GRCm39) E169G possibly damaging Het
Cd28 A T 1: 60,808,861 (GRCm39) M192L possibly damaging Het
Chd6 T C 2: 160,871,219 (GRCm39) probably benign Het
Cyp2c69 C T 19: 39,866,056 (GRCm39) C179Y probably damaging Het
Cyp7b1 A T 3: 18,151,457 (GRCm39) V252E probably damaging Het
Dcp2 G T 18: 44,550,659 (GRCm39) G378C probably benign Het
Dip2b A T 15: 100,058,410 (GRCm39) I196L possibly damaging Het
Erbin G A 13: 103,987,346 (GRCm39) P405S probably damaging Het
Etv1 A G 12: 38,881,292 (GRCm39) probably null Het
F830104G03Rik T G 3: 56,797,917 (GRCm39) K33T unknown Het
Fbln2 C A 6: 91,210,477 (GRCm39) H140Q probably damaging Het
Fxr1 A G 3: 34,101,847 (GRCm39) T109A probably damaging Het
Gm10110 T C 14: 90,134,785 (GRCm39) noncoding transcript Het
Gm9949 C T 18: 62,317,140 (GRCm39) probably benign Het
Grin2d A G 7: 45,504,039 (GRCm39) L604P probably damaging Het
Gstcd A T 3: 132,711,314 (GRCm39) probably benign Het
Ifna16 A G 4: 88,594,681 (GRCm39) V138A probably benign Het
Itpr2 T A 6: 146,226,703 (GRCm39) N1314I probably damaging Het
Kitl T C 10: 99,916,728 (GRCm39) V177A probably damaging Het
L3mbtl1 A T 2: 162,790,488 (GRCm39) Q185L probably damaging Het
Lhx9 T A 1: 138,766,092 (GRCm39) N232I probably benign Het
Lnx1 T C 5: 74,788,784 (GRCm39) R111G probably benign Het
Lrrc41 A G 4: 115,936,602 (GRCm39) I72M probably damaging Het
Lrriq1 T A 10: 103,069,899 (GRCm39) D39V possibly damaging Het
Lyrm7 A G 11: 54,731,936 (GRCm39) probably benign Het
Lyst T A 13: 13,857,734 (GRCm39) Y2508N probably damaging Het
Masp2 A T 4: 148,687,328 (GRCm39) Y70F probably benign Het
Mc4r T C 18: 66,992,409 (GRCm39) I235V probably benign Het
Med12l G A 3: 59,152,214 (GRCm39) V1000M probably damaging Het
Morc2b T C 17: 33,357,712 (GRCm39) H20R probably benign Het
Ms4a1 A T 19: 11,231,857 (GRCm39) S173T probably damaging Het
Myh13 A C 11: 67,228,477 (GRCm39) D339A probably damaging Het
Nars1 A T 18: 64,633,643 (GRCm39) Y542* probably null Het
Nectin2 G A 7: 19,451,645 (GRCm39) T463I possibly damaging Het
Nrg4 A G 9: 55,166,679 (GRCm39) F64L probably benign Het
Nrxn1 T A 17: 91,395,605 (GRCm39) I184F probably benign Het
Nxph2 C T 2: 23,289,846 (GRCm39) P66L probably benign Het
Or10ag2 C T 2: 87,248,907 (GRCm39) Q170* probably null Het
Or2v1 C A 11: 49,025,608 (GRCm39) F196L probably damaging Het
Pard3 A T 8: 128,115,018 (GRCm39) T579S probably damaging Het
Patj A G 4: 98,457,295 (GRCm39) I48V possibly damaging Het
Paxbp1 T C 16: 90,841,199 (GRCm39) probably benign Het
Pou2f3 A T 9: 43,050,618 (GRCm39) N235K possibly damaging Het
Ppp2r2c A G 5: 37,026,214 (GRCm39) D17G probably damaging Het
Rgs8 A G 1: 153,568,633 (GRCm39) probably benign Het
Rnd3 A G 2: 51,038,762 (GRCm39) V42A probably damaging Het
Rp1l1 A G 14: 64,263,620 (GRCm39) R247G probably benign Het
Sec31b A T 19: 44,524,172 (GRCm39) V156D probably damaging Het
Slc22a2 T A 17: 12,833,702 (GRCm39) Y461N possibly damaging Het
Spag6l T C 16: 16,599,622 (GRCm39) K280R possibly damaging Het
Spata31d1a A G 13: 59,850,337 (GRCm39) L597P probably damaging Het
Srr G T 11: 74,798,606 (GRCm39) probably benign Het
Sry C G Y: 2,662,864 (GRCm39) Q265H unknown Het
Tgif1 A C 17: 71,156,700 (GRCm39) probably null Het
Tubgcp4 A G 2: 121,020,343 (GRCm39) T439A probably benign Het
Twist1 C T 12: 34,008,350 (GRCm39) T125M probably damaging Het
Unc13a T A 8: 72,111,260 (GRCm39) D317V possibly damaging Het
Vmn1r227 T A 17: 20,955,407 (GRCm39) noncoding transcript Het
Vps72 G T 3: 95,025,498 (GRCm39) probably benign Het
Zfp184 T C 13: 22,144,498 (GRCm39) S735P possibly damaging Het
Zfp42 A T 8: 43,748,725 (GRCm39) C259S possibly damaging Het
Zmiz2 A G 11: 6,353,251 (GRCm39) H678R probably damaging Het
Other mutations in Tle3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Tle3 APN 9 61,316,039 (GRCm39) splice site probably benign
IGL00671:Tle3 APN 9 61,319,652 (GRCm39) missense probably damaging 1.00
IGL01583:Tle3 APN 9 61,317,307 (GRCm39) missense probably benign 0.00
IGL01684:Tle3 APN 9 61,310,728 (GRCm39) intron probably benign
IGL02109:Tle3 APN 9 61,320,332 (GRCm39) missense probably damaging 1.00
IGL02386:Tle3 APN 9 61,301,941 (GRCm39) missense possibly damaging 0.88
IGL02517:Tle3 APN 9 61,322,063 (GRCm39) missense probably damaging 1.00
IGL02930:Tle3 APN 9 61,301,981 (GRCm39) missense possibly damaging 0.52
IGL03103:Tle3 APN 9 61,300,524 (GRCm39) missense possibly damaging 0.46
R0391:Tle3 UTSW 9 61,323,943 (GRCm39) missense probably damaging 1.00
R0395:Tle3 UTSW 9 61,317,353 (GRCm39) missense probably damaging 0.99
R0621:Tle3 UTSW 9 61,317,387 (GRCm39) nonsense probably null
R1836:Tle3 UTSW 9 61,321,305 (GRCm39) missense probably damaging 1.00
R1921:Tle3 UTSW 9 61,318,622 (GRCm39) critical splice donor site probably null
R1978:Tle3 UTSW 9 61,301,915 (GRCm39) missense probably damaging 1.00
R3434:Tle3 UTSW 9 61,321,376 (GRCm39) splice site probably null
R4242:Tle3 UTSW 9 61,314,705 (GRCm39) missense probably benign
R4587:Tle3 UTSW 9 61,281,295 (GRCm39) missense probably damaging 0.99
R4811:Tle3 UTSW 9 61,281,279 (GRCm39) unclassified probably benign
R4913:Tle3 UTSW 9 61,281,275 (GRCm39) missense probably damaging 1.00
R5387:Tle3 UTSW 9 61,314,771 (GRCm39) splice site probably null
R5745:Tle3 UTSW 9 61,322,133 (GRCm39) missense probably damaging 1.00
R5752:Tle3 UTSW 9 61,314,753 (GRCm39) missense probably damaging 1.00
R5917:Tle3 UTSW 9 61,316,190 (GRCm39) missense probably benign 0.19
R6000:Tle3 UTSW 9 61,281,296 (GRCm39) missense probably damaging 1.00
R6339:Tle3 UTSW 9 61,309,206 (GRCm39) splice site probably null
R7210:Tle3 UTSW 9 61,319,587 (GRCm39) missense probably damaging 1.00
R7460:Tle3 UTSW 9 61,320,366 (GRCm39) missense probably damaging 0.99
R7545:Tle3 UTSW 9 61,301,984 (GRCm39) missense possibly damaging 0.62
R7698:Tle3 UTSW 9 61,320,138 (GRCm39) missense probably damaging 1.00
R7916:Tle3 UTSW 9 61,314,410 (GRCm39) missense probably benign
R8075:Tle3 UTSW 9 61,281,841 (GRCm39) missense probably benign 0.05
R8941:Tle3 UTSW 9 61,320,195 (GRCm39) missense probably damaging 1.00
R9018:Tle3 UTSW 9 61,319,750 (GRCm39) missense probably damaging 1.00
R9060:Tle3 UTSW 9 61,282,821 (GRCm39) missense probably damaging 1.00
R9109:Tle3 UTSW 9 61,319,562 (GRCm39) missense possibly damaging 0.55
R9122:Tle3 UTSW 9 61,314,755 (GRCm39) unclassified probably benign
R9298:Tle3 UTSW 9 61,319,562 (GRCm39) missense possibly damaging 0.55
Predicted Primers
Posted On 2016-03-17