Incidental Mutation 'IGL00671:Tle3'
ID 14467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tle3
Ensembl Gene ENSMUSG00000032280
Gene Name transducin-like enhancer of split 3
Synonyms 2610103N05Rik, ESG, Grg3a, Grg3b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00671
Quality Score
Status
Chromosome 9
Chromosomal Location 61279648-61325779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61319652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 492 (N492K)
Ref Sequence ENSEMBL: ENSMUSP00000136010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034820] [ENSMUST00000159050] [ENSMUST00000159386] [ENSMUST00000159630] [ENSMUST00000160724] [ENSMUST00000160882] [ENSMUST00000178113] [ENSMUST00000161207] [ENSMUST00000162127] [ENSMUST00000161689] [ENSMUST00000162973] [ENSMUST00000162583] [ENSMUST00000161993]
AlphaFold Q08122
Predicted Effect probably damaging
Transcript: ENSMUST00000034820
AA Change: N473K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034820
Gene: ENSMUSG00000032280
AA Change: N473K

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 probably damaging
Transcript: ENSMUST00000159050
AA Change: N476K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125032
Gene: ENSMUSG00000032280
AA Change: N476K

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 noncoding transcript
Transcript: ENSMUST00000159140
Predicted Effect probably damaging
Transcript: ENSMUST00000159386
AA Change: N469K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125049
Gene: ENSMUSG00000032280
AA Change: N469K

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 damaging
Transcript: ENSMUST00000159630
AA Change: N421K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123723
Gene: ENSMUSG00000032280
AA Change: N421K

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: 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 probably damaging
Transcript: ENSMUST00000160882
AA Change: N491K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124131
Gene: ENSMUSG00000032280
AA Change: N491K

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 damaging
Transcript: ENSMUST00000178113
AA Change: N492K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136010
Gene: ENSMUSG00000032280
AA Change: N492K

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000161207
AA Change: N471K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124557
Gene: ENSMUSG00000032280
AA Change: N471K

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 damaging
Transcript: ENSMUST00000162127
AA Change: N411K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124150
Gene: ENSMUSG00000032280
AA Change: N411K

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 damaging
Transcript: ENSMUST00000161689
AA Change: N425K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125011
Gene: ENSMUSG00000032280
AA Change: N425K

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 damaging
Transcript: ENSMUST00000162973
AA Change: N481K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124173
Gene: ENSMUSG00000032280
AA Change: N481K

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 damaging
Transcript: ENSMUST00000162583
AA Change: N478K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124977
Gene: ENSMUSG00000032280
AA Change: N478K

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 noncoding transcript
Transcript: ENSMUST00000162962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162281
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
Coding Region Coverage
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,980,745 (GRCm39) R576* probably null Het
Astl T C 2: 127,185,941 (GRCm39) probably null Het
Atp6v1h T C 1: 5,194,694 (GRCm39) probably null Het
Avpr1a A T 10: 122,285,256 (GRCm39) I183L probably benign Het
Cep83 A G 10: 94,625,626 (GRCm39) T679A possibly damaging Het
Dennd1b A T 1: 139,061,475 (GRCm39) I386F possibly damaging Het
Dnaaf6rt G A 1: 31,262,053 (GRCm39) V12I probably benign Het
Ect2 T C 3: 27,192,818 (GRCm39) N344S probably benign Het
Ghrh G A 2: 157,175,389 (GRCm39) H31Y probably benign Het
Gpc6 A T 14: 117,424,199 (GRCm39) T96S probably benign Het
Man2b1 A C 8: 85,820,567 (GRCm39) D618A probably damaging Het
Myh2 A G 11: 67,084,183 (GRCm39) E1602G probably damaging Het
Myo16 T A 8: 10,411,067 (GRCm39) I175N probably damaging Het
Oga C A 19: 45,753,979 (GRCm39) A632S possibly damaging Het
Otof C T 5: 30,543,097 (GRCm39) probably null Het
Otop2 A G 11: 115,222,735 (GRCm39) N539S probably damaging Het
Ralbp1 T A 17: 66,171,607 (GRCm39) E122V possibly damaging Het
Spata31e2 A T 1: 26,723,940 (GRCm39) S413R possibly damaging Het
Tcf12 T A 9: 71,775,400 (GRCm39) N450I probably damaging Het
Ttll8 T C 15: 88,798,356 (GRCm39) D793G probably benign Het
Uggt2 T C 14: 119,280,211 (GRCm39) T756A possibly damaging Het
Zfand1 T C 3: 10,411,084 (GRCm39) H96R probably damaging Het
Zfp617 C T 8: 72,686,386 (GRCm39) R239* probably null Het
Zmpste24 A G 4: 120,940,012 (GRCm39) probably benign Het
Other mutations in Tle3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Tle3 APN 9 61,316,039 (GRCm39) splice site probably benign
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
R4877:Tle3 UTSW 9 61,280,781 (GRCm39) intron 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
Posted On 2012-12-06