Incidental Mutation 'T0970:Tle2'
ID 67263
Institutional Source Beutler Lab
Gene Symbol Tle2
Ensembl Gene ENSMUSG00000034771
Gene Name transducin-like enhancer of split 2
Synonyms Grg2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.429) question?
Stock # T0970 (G3) of strain 713
Quality Score 89
Status Validated
Chromosome 10
Chromosomal Location 81410395-81426679 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81416119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 108 (D108G)
Ref Sequence ENSEMBL: ENSMUSP00000121173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000131794] [ENSMUST00000135211] [ENSMUST00000136341] [ENSMUST00000146358] [ENSMUST00000146916] [ENSMUST00000143285]
AlphaFold Q9WVB2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129798
Predicted Effect probably benign
Transcript: ENSMUST00000131794
Predicted Effect probably benign
Transcript: ENSMUST00000135211
AA Change: D108G

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: D108G

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: ENSMUST00000136254
Predicted Effect probably benign
Transcript: ENSMUST00000136341
AA Change: D108G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121585
Gene: ENSMUSG00000034771
AA Change: D108G

DomainStartEndE-ValueType
Pfam:TLE_N 1 121 1.3e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140433
Predicted Effect probably benign
Transcript: ENSMUST00000146358
AA Change: D131G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: D131G

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000146916
AA Change: D108G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
AA Change: D108G

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 probably benign
Transcript: ENSMUST00000143285
AA Change: D88G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122074
Gene: ENSMUSG00000034771
AA Change: D88G

DomainStartEndE-ValueType
Pfam:TLE_N 1 78 1.5e-49 PFAM
Pfam:TLE_N 76 114 1.3e-11 PFAM
low complexity region 124 151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145878
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (25/25)
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A T 10: 88,817,052 (GRCm39) L591* probably null Het
Aqp4 A G 18: 15,532,940 (GRCm39) L51P probably damaging Het
Cemip A T 7: 83,632,354 (GRCm39) C403S probably damaging Het
Cfap74 G T 4: 155,547,574 (GRCm39) probably null Het
Glis3 G A 19: 28,508,332 (GRCm39) R551W probably damaging Het
Gm11232 T A 4: 71,674,740 (GRCm39) Y254F possibly damaging Het
Map3k14 G T 11: 103,115,124 (GRCm39) C837* probably null Het
Mrc2 A C 11: 105,238,453 (GRCm39) E1200A probably benign Het
Nfix T C 8: 85,453,112 (GRCm39) N314S possibly damaging Het
Nphp4 T C 4: 152,640,836 (GRCm39) S1068P probably damaging Het
Nup98 A C 7: 101,835,959 (GRCm39) probably benign Het
Or13p8 A G 4: 118,583,464 (GRCm39) R7G probably benign Het
Pcdhac2 T C 18: 37,278,388 (GRCm39) V456A possibly damaging Het
Pcdhb1 G T 18: 37,399,026 (GRCm39) G326C probably damaging Het
Prss38 A G 11: 59,263,974 (GRCm39) V246A possibly damaging Het
Rnf26 C G 9: 44,023,369 (GRCm39) R172P probably damaging Het
Septin4 A T 11: 87,458,558 (GRCm39) T311S probably damaging Het
Serinc3 TATCATC TATC 2: 163,469,835 (GRCm39) probably benign Het
Spire1 C A 18: 67,634,133 (GRCm39) probably null Het
Tex2 T A 11: 106,437,772 (GRCm39) I633F unknown Het
Txnrd2 T C 16: 18,260,523 (GRCm39) V185A probably damaging Het
Unc45b C A 11: 82,813,714 (GRCm39) H374N probably benign Het
Wtap T C 17: 13,188,277 (GRCm39) probably benign Het
Other mutations in Tle2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Tle2 APN 10 81,417,573 (GRCm39) missense probably benign 0.12
IGL02651:Tle2 APN 10 81,422,723 (GRCm39) missense probably damaging 1.00
IGL02809:Tle2 APN 10 81,422,196 (GRCm39) splice site probably null
IGL03235:Tle2 APN 10 81,422,085 (GRCm39) missense probably benign 0.22
IGL03307:Tle2 APN 10 81,426,074 (GRCm39) missense probably damaging 1.00
foxbat UTSW 10 81,422,147 (GRCm39) nonsense probably null
Illyushin UTSW 10 81,424,706 (GRCm39) missense probably damaging 1.00
R5011_Tle2_517 UTSW 10 81,420,531 (GRCm39) missense probably damaging 1.00
PIT4515001:Tle2 UTSW 10 81,422,964 (GRCm39) missense possibly damaging 0.72
R0394:Tle2 UTSW 10 81,413,482 (GRCm39) missense probably damaging 1.00
R0744:Tle2 UTSW 10 81,424,781 (GRCm39) missense probably damaging 1.00
R0826:Tle2 UTSW 10 81,422,148 (GRCm39) missense possibly damaging 0.95
R0833:Tle2 UTSW 10 81,424,781 (GRCm39) missense probably damaging 1.00
R1796:Tle2 UTSW 10 81,425,331 (GRCm39) critical splice donor site probably null
R2067:Tle2 UTSW 10 81,416,385 (GRCm39) missense probably damaging 1.00
R2184:Tle2 UTSW 10 81,426,111 (GRCm39) missense probably damaging 1.00
R2198:Tle2 UTSW 10 81,426,147 (GRCm39) missense probably damaging 1.00
R4439:Tle2 UTSW 10 81,417,516 (GRCm39) missense possibly damaging 0.62
R4440:Tle2 UTSW 10 81,417,516 (GRCm39) missense possibly damaging 0.62
R4441:Tle2 UTSW 10 81,417,516 (GRCm39) missense possibly damaging 0.62
R4513:Tle2 UTSW 10 81,423,394 (GRCm39) missense probably damaging 1.00
R4839:Tle2 UTSW 10 81,413,518 (GRCm39) missense probably damaging 1.00
R4863:Tle2 UTSW 10 81,424,725 (GRCm39) missense possibly damaging 0.88
R5011:Tle2 UTSW 10 81,420,531 (GRCm39) missense probably damaging 1.00
R5505:Tle2 UTSW 10 81,417,574 (GRCm39) missense probably benign 0.00
R5538:Tle2 UTSW 10 81,416,418 (GRCm39) missense probably damaging 1.00
R5790:Tle2 UTSW 10 81,426,149 (GRCm39) missense probably damaging 1.00
R5917:Tle2 UTSW 10 81,416,750 (GRCm39) critical splice donor site probably null
R6176:Tle2 UTSW 10 81,423,168 (GRCm39) missense probably damaging 0.99
R6200:Tle2 UTSW 10 81,424,706 (GRCm39) missense probably damaging 1.00
R6914:Tle2 UTSW 10 81,422,190 (GRCm39) missense probably damaging 1.00
R7367:Tle2 UTSW 10 81,416,152 (GRCm39) missense probably damaging 0.99
R7600:Tle2 UTSW 10 81,422,147 (GRCm39) nonsense probably null
R7729:Tle2 UTSW 10 81,422,981 (GRCm39) missense probably damaging 0.99
R8333:Tle2 UTSW 10 81,413,518 (GRCm39) missense probably damaging 1.00
R8511:Tle2 UTSW 10 81,423,830 (GRCm39) missense probably damaging 1.00
R9562:Tle2 UTSW 10 81,417,567 (GRCm39) missense probably benign 0.11
R9565:Tle2 UTSW 10 81,417,567 (GRCm39) missense probably benign 0.11
Z1177:Tle2 UTSW 10 81,418,280 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGGCCCTGCAAAGCATGACCTG -3'
(R):5'- CTGGAGCTGATTCTGCTGCTGAATG -3'

Sequencing Primer
(F):5'- gggaaaagtgaggggtgg -3'
(R):5'- CTGCTGCTGAATGGGGAGAG -3'
Posted On 2013-09-03