Incidental Mutation 'R6515:Tle6'
ID 520615
Institutional Source Beutler Lab
Gene Symbol Tle6
Ensembl Gene ENSMUSG00000034758
Gene Name transducin-like enhancer of split 6
Synonyms 1810057E06Rik, Grg6
MMRRC Submission 044642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R6515 (G1)
Quality Score 136.008
Status Validated
Chromosome 10
Chromosomal Location 81426738-81436907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81427810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 482 (H482Y)
Ref Sequence ENSEMBL: ENSMUSP00000117287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072020] [ENSMUST00000127546] [ENSMUST00000142948] [ENSMUST00000135211] [ENSMUST00000151858] [ENSMUST00000146916] [ENSMUST00000146358]
AlphaFold Q9WVB3
Predicted Effect probably damaging
Transcript: ENSMUST00000072020
AA Change: H492Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758
AA Change: H492Y

DomainStartEndE-ValueType
WD40 283 320 9.6e-2 SMART
Blast:WD40 334 372 2e-12 BLAST
WD40 377 415 6.16e0 SMART
WD40 418 455 7.43e-1 SMART
Blast:WD40 460 496 4e-13 BLAST
WD40 499 538 1.43e0 SMART
WD40 541 578 2.97e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124724
Predicted Effect probably benign
Transcript: ENSMUST00000124854
SMART Domains Protein: ENSMUSP00000118334
Gene: ENSMUSG00000034771

DomainStartEndE-ValueType
Blast:WD40 6 44 9e-20 BLAST
WD40 46 85 1.2e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129282
Predicted Effect probably damaging
Transcript: ENSMUST00000142948
AA Change: H482Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758
AA Change: H482Y

DomainStartEndE-ValueType
WD40 273 310 9.6e-2 SMART
Blast:WD40 324 362 2e-12 BLAST
WD40 367 405 6.16e0 SMART
WD40 408 445 7.43e-1 SMART
Blast:WD40 450 486 4e-13 BLAST
WD40 489 528 1.43e0 SMART
WD40 531 568 2.97e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131530
Predicted Effect probably benign
Transcript: ENSMUST00000135211
SMART Domains Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771

DomainStartEndE-ValueType
Pfam:TLE_N 1 122 3e-68 PFAM
low complexity region 133 160 N/A INTRINSIC
low complexity region 172 194 N/A INTRINSIC
low complexity region 262 277 N/A INTRINSIC
low complexity region 332 352 N/A INTRINSIC
WD40 436 473 5.6e-3 SMART
WD40 479 520 9.6e-2 SMART
WD40 525 564 1.88e-4 SMART
WD40 567 606 3.72e-8 SMART
Blast:WD40 609 647 8e-18 BLAST
WD40 649 688 1.2e-2 SMART
WD40 689 729 2.07e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141913
Predicted Effect probably benign
Transcript: ENSMUST00000131411
SMART Domains Protein: ENSMUSP00000114400
Gene: ENSMUSG00000034771

DomainStartEndE-ValueType
WD40 36 75 1.2e-2 SMART
WD40 76 116 2.07e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129798
Predicted Effect probably benign
Transcript: ENSMUST00000151858
SMART Domains Protein: ENSMUSP00000119945
Gene: ENSMUSG00000034758

DomainStartEndE-ValueType
low complexity region 69 77 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149721
Predicted Effect probably benign
Transcript: ENSMUST00000146916
SMART Domains Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771

DomainStartEndE-ValueType
Pfam:TLE_N 1 134 1.6e-75 PFAM
low complexity region 144 171 N/A INTRINSIC
low complexity region 183 205 N/A INTRINSIC
low complexity region 273 288 N/A INTRINSIC
low complexity region 343 363 N/A INTRINSIC
WD40 435 472 5.6e-3 SMART
WD40 478 519 9.6e-2 SMART
WD40 524 563 1.88e-4 SMART
WD40 566 605 3.72e-8 SMART
WD40 648 687 1.2e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153812
Predicted Effect probably benign
Transcript: ENSMUST00000146358
SMART Domains Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771

DomainStartEndE-ValueType
Pfam:TLE_N 1 64 2e-31 PFAM
Pfam:TLE_N 81 154 4.3e-34 PFAM
low complexity region 167 194 N/A INTRINSIC
low complexity region 206 228 N/A INTRINSIC
low complexity region 296 311 N/A INTRINSIC
low complexity region 366 386 N/A INTRINSIC
WD40 471 508 5.6e-3 SMART
WD40 514 555 9.6e-2 SMART
WD40 560 599 1.88e-4 SMART
WD40 602 641 3.72e-8 SMART
Blast:WD40 644 682 9e-18 BLAST
WD40 684 723 1.2e-2 SMART
WD40 724 764 2.07e-1 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,592,044 (GRCm39) D102G probably damaging Het
Apcdd1 T A 18: 63,084,910 (GRCm39) M369K probably damaging Het
Atp4a A G 7: 30,411,903 (GRCm39) K46R possibly damaging Het
Bcl9l A G 9: 44,419,171 (GRCm39) probably null Het
Cabyr A G 18: 12,887,340 (GRCm39) S324G possibly damaging Het
Casp8ap2 A G 4: 32,646,423 (GRCm39) D1832G possibly damaging Het
Cdk4 C T 10: 126,902,052 (GRCm39) P256S probably null Het
Cnot6l C A 5: 96,309,537 (GRCm39) probably benign Het
Cox17 C A 16: 38,167,557 (GRCm39) A32E probably damaging Het
Cyp27b1 G T 10: 126,884,119 (GRCm39) probably benign Het
Enpp2 T A 15: 54,723,489 (GRCm39) N628I possibly damaging Het
Ggcx T C 6: 72,402,815 (GRCm39) C258R probably benign Het
Hbb-bh1 T C 7: 103,491,974 (GRCm39) D80G probably damaging Het
Hoxb5 A T 11: 96,195,908 (GRCm39) D252V probably damaging Het
Hspa4l A G 3: 40,736,014 (GRCm39) D545G possibly damaging Het
Hspa5 T A 2: 34,662,416 (GRCm39) V28E probably benign Het
Ifit1bl1 T C 19: 34,571,899 (GRCm39) Y186C probably damaging Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kif19b T C 5: 140,480,779 (GRCm39) S970P possibly damaging Het
Klra17 A T 6: 129,808,462 (GRCm39) I257N probably damaging Het
Megf6 C T 4: 154,343,376 (GRCm39) H662Y possibly damaging Het
Mfsd6 T C 1: 52,700,120 (GRCm39) K676R probably damaging Het
Nutm1 A C 2: 112,086,665 (GRCm39) L22R probably benign Het
Oas1f T C 5: 120,986,497 (GRCm39) V150A probably damaging Het
Or10ak13 T C 4: 118,639,467 (GRCm39) Y105C probably benign Het
Or4f62 T C 2: 111,986,710 (GRCm39) L138P probably benign Het
Pik3ap1 A G 19: 41,364,585 (GRCm39) Y45H probably benign Het
Pnlip T C 19: 58,661,547 (GRCm39) S79P probably damaging Het
Ppfia3 T C 7: 44,989,657 (GRCm39) D1185G possibly damaging Het
Pphln1-ps1 G A 16: 13,494,820 (GRCm39) probably benign Het
Rbm34 A T 8: 127,688,682 (GRCm39) S217T possibly damaging Het
Rbm44 T C 1: 91,092,860 (GRCm39) I820T probably damaging Het
Rnf151 A T 17: 24,935,391 (GRCm39) L180Q probably benign Het
Sec24d G A 3: 123,136,719 (GRCm39) R484Q possibly damaging Het
Spop C A 11: 95,376,761 (GRCm39) D271E possibly damaging Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Thap12 A G 7: 98,356,302 (GRCm39) E63G probably damaging Het
Thsd7a T A 6: 12,501,085 (GRCm39) T441S possibly damaging Het
Tmem184a A G 5: 139,794,193 (GRCm39) F177L probably benign Het
Uggt2 A T 14: 119,315,131 (GRCm39) S313T possibly damaging Het
Unc13a A G 8: 72,100,584 (GRCm39) I1068T probably benign Het
Xirp1 T C 9: 119,845,983 (GRCm39) R967G probably benign Het
Other mutations in Tle6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Tle6 APN 10 81,430,292 (GRCm39) missense probably damaging 1.00
IGL02151:Tle6 APN 10 81,434,474 (GRCm39) missense probably benign 0.01
IGL02724:Tle6 APN 10 81,435,898 (GRCm39) nonsense probably null
R0420:Tle6 UTSW 10 81,431,145 (GRCm39) unclassified probably benign
R0423:Tle6 UTSW 10 81,434,457 (GRCm39) missense possibly damaging 0.95
R0589:Tle6 UTSW 10 81,431,253 (GRCm39) unclassified probably benign
R0605:Tle6 UTSW 10 81,430,180 (GRCm39) missense probably damaging 0.99
R1554:Tle6 UTSW 10 81,431,219 (GRCm39) missense probably benign 0.05
R1860:Tle6 UTSW 10 81,430,163 (GRCm39) missense probably damaging 1.00
R1863:Tle6 UTSW 10 81,427,755 (GRCm39) missense possibly damaging 0.91
R1952:Tle6 UTSW 10 81,431,319 (GRCm39) missense possibly damaging 0.82
R2139:Tle6 UTSW 10 81,429,868 (GRCm39) missense probably damaging 0.99
R2337:Tle6 UTSW 10 81,428,490 (GRCm39) splice site probably null
R2849:Tle6 UTSW 10 81,430,235 (GRCm39) missense probably damaging 1.00
R3158:Tle6 UTSW 10 81,431,038 (GRCm39) splice site probably null
R3777:Tle6 UTSW 10 81,431,987 (GRCm39) missense probably benign 0.23
R3778:Tle6 UTSW 10 81,431,987 (GRCm39) missense probably benign 0.23
R4085:Tle6 UTSW 10 81,430,349 (GRCm39) splice site probably null
R5058:Tle6 UTSW 10 81,431,791 (GRCm39) missense probably damaging 1.00
R5058:Tle6 UTSW 10 81,430,072 (GRCm39) missense possibly damaging 0.93
R5183:Tle6 UTSW 10 81,428,635 (GRCm39) missense probably damaging 0.97
R6225:Tle6 UTSW 10 81,428,600 (GRCm39) missense probably damaging 1.00
R6331:Tle6 UTSW 10 81,431,073 (GRCm39) missense probably benign 0.00
R6514:Tle6 UTSW 10 81,427,810 (GRCm39) missense probably damaging 1.00
R6517:Tle6 UTSW 10 81,427,810 (GRCm39) missense probably damaging 1.00
R7145:Tle6 UTSW 10 81,435,910 (GRCm39) missense possibly damaging 0.66
R8070:Tle6 UTSW 10 81,434,476 (GRCm39) missense possibly damaging 0.79
R8085:Tle6 UTSW 10 81,431,792 (GRCm39) missense probably damaging 1.00
R8194:Tle6 UTSW 10 81,426,888 (GRCm39) missense probably damaging 0.98
R9066:Tle6 UTSW 10 81,430,212 (GRCm39) missense possibly damaging 0.69
R9421:Tle6 UTSW 10 81,429,868 (GRCm39) missense
R9433:Tle6 UTSW 10 81,426,880 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATAGCAGGGTCCTCTGAGAG -3'
(R):5'- CCTCACAGAAGGAAGGTGTG -3'

Sequencing Primer
(F):5'- GTCCTGGAACTCTGTACACCAG -3'
(R):5'- AGACACAGTCGGGCCACAG -3'
Posted On 2018-06-06