Incidental Mutation 'IGL02724:Tle6'
ID 305096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tle6
Ensembl Gene ENSMUSG00000034758
Gene Name transducin-like enhancer of split 6
Synonyms 1810057E06Rik, Grg6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL02724
Quality Score
Status
Chromosome 10
Chromosomal Location 81426738-81436907 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 81435898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 6 (Q6*)
Ref Sequence ENSEMBL: ENSMUSP00000119945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072020] [ENSMUST00000127546] [ENSMUST00000151858] [ENSMUST00000142948]
AlphaFold Q9WVB3
Predicted Effect probably null
Transcript: ENSMUST00000072020
AA Change: Q6*
SMART Domains Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758
AA Change: Q6*

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 null
Transcript: ENSMUST00000127546
AA Change: Q6*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134457
Predicted Effect probably null
Transcript: ENSMUST00000151858
AA Change: Q6*
SMART Domains Protein: ENSMUSP00000119945
Gene: ENSMUSG00000034758
AA Change: Q6*

DomainStartEndE-ValueType
low complexity region 69 77 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000142948
AA Change: Q6*
SMART Domains Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758
AA Change: Q6*

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: ENSMUST00000137631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153379
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 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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,676,121 (GRCm39) K85Q probably damaging Het
Acmsd A T 1: 127,676,822 (GRCm39) T116S possibly damaging Het
Agrn T A 4: 156,257,264 (GRCm39) K1189* probably null Het
Alk T C 17: 72,292,455 (GRCm39) R508G probably benign Het
Arhgap23 T A 11: 97,382,005 (GRCm39) Y1123N probably damaging Het
Arl6ip5 G T 6: 97,209,365 (GRCm39) M133I probably benign Het
Axin2 G A 11: 108,833,772 (GRCm39) G573D possibly damaging Het
B4galt2 A G 4: 117,734,075 (GRCm39) probably null Het
Baz2b G T 2: 59,807,718 (GRCm39) D180E possibly damaging Het
Btnl6 G T 17: 34,727,149 (GRCm39) Y460* probably null Het
Cct7 A T 6: 85,436,131 (GRCm39) D14V probably damaging Het
Cd55 T A 1: 130,377,149 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh2 C T 18: 16,762,537 (GRCm39) R526Q probably benign Het
Chi3l1 A C 1: 134,116,981 (GRCm39) E315A probably damaging Het
Cmya5 A G 13: 93,233,163 (GRCm39) S642P probably benign Het
Cpm C A 10: 117,465,756 (GRCm39) T43K probably damaging Het
Cracd T C 5: 77,006,306 (GRCm39) V889A unknown Het
Cyp8b1 A T 9: 121,744,453 (GRCm39) V293D probably benign Het
Dock1 T G 7: 134,765,082 (GRCm39) D1691E probably benign Het
Fasn T C 11: 120,700,659 (GRCm39) D2120G probably benign Het
Gal3st4 T C 5: 138,263,679 (GRCm39) K440R probably benign Het
Gfpt1 A T 6: 87,033,164 (GRCm39) K130* probably null Het
Gpr26 T C 7: 131,576,121 (GRCm39) probably null Het
Htr2a A T 14: 74,882,502 (GRCm39) I163F probably damaging Het
Ift70a2 T C 2: 75,806,682 (GRCm39) E610G probably benign Het
Insrr A G 3: 87,716,879 (GRCm39) D673G probably benign Het
Ipo8 G T 6: 148,692,979 (GRCm39) C636* probably null Het
Kirrel1 C A 3: 86,997,780 (GRCm39) E248* probably null Het
Lrp6 A G 6: 134,461,228 (GRCm39) V743A probably damaging Het
Lrrc45 C A 11: 120,609,144 (GRCm39) S374R probably benign Het
Map3k9 G A 12: 81,771,516 (GRCm39) P714S probably benign Het
Mrgprb8 T A 7: 48,039,121 (GRCm39) L264Q possibly damaging Het
Mroh4 C A 15: 74,478,000 (GRCm39) W902L probably benign Het
Nfat5 T A 8: 108,085,367 (GRCm39) D535E probably damaging Het
Nfatc3 T C 8: 106,834,817 (GRCm39) V713A probably benign Het
Npc1l1 C T 11: 6,164,684 (GRCm39) V1122M possibly damaging Het
Nsg2 A G 11: 32,005,011 (GRCm39) probably null Het
Or4c15 C A 2: 88,759,792 (GRCm39) R289L probably damaging Het
Or8s10 T A 15: 98,335,660 (GRCm39) F103L probably benign Het
Pax9 A T 12: 56,756,604 (GRCm39) H314L possibly damaging Het
Phf21a A T 2: 92,190,592 (GRCm39) I584F probably damaging Het
Pip5k1c A G 10: 81,149,296 (GRCm39) E536G probably benign Het
Plekhm3 A G 1: 64,834,276 (GRCm39) S736P probably damaging Het
Ppp3cb T A 14: 20,573,645 (GRCm39) probably null Het
Prdm9 A T 17: 15,783,522 (GRCm39) S14R probably benign Het
Proc A G 18: 32,267,925 (GRCm39) I71T probably damaging Het
Prom2 T A 2: 127,380,577 (GRCm39) probably benign Het
Psd T C 19: 46,307,984 (GRCm39) T675A probably benign Het
Rnf215 G T 11: 4,090,305 (GRCm39) R341L probably damaging Het
Ryr3 A G 2: 112,732,921 (GRCm39) probably null Het
Sh2d7 C A 9: 54,448,105 (GRCm39) T42N probably benign Het
Sh3glb2 C T 2: 30,236,368 (GRCm39) G279D probably benign Het
Slc25a46 A G 18: 31,738,868 (GRCm39) probably benign Het
Snx17 T C 5: 31,354,390 (GRCm39) S167P probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sptbn4 G A 7: 27,067,104 (GRCm39) R1937C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Srsf11 T C 3: 157,722,068 (GRCm39) probably benign Het
Taar7b A T 10: 23,876,581 (GRCm39) M249L probably benign Het
Twnk G T 19: 44,996,557 (GRCm39) R330L probably damaging Het
Unc13a C A 8: 72,108,949 (GRCm39) probably benign Het
Vmn2r107 A G 17: 20,577,006 (GRCm39) T335A possibly damaging Het
Wdtc1 A T 4: 133,024,789 (GRCm39) S469R possibly damaging Het
Ypel1 A G 16: 16,921,466 (GRCm39) Y73H probably benign Het
Zfp382 A T 7: 29,833,162 (GRCm39) Y271F 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
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
R6515: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
Posted On 2015-04-16