Incidental Mutation 'IGL02651:Tle2'
ID302133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tle2
Ensembl Gene ENSMUSG00000034771
Gene Nametransducin-like enhancer of split 2
SynonymsGrg2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL02651
Quality Score
Status
Chromosome10
Chromosomal Location81574561-81590845 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 81586889 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 428 (G428D)
Ref Sequence ENSEMBL: ENSMUSP00000121125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072020] [ENSMUST00000135211] [ENSMUST00000142948] [ENSMUST00000146358] [ENSMUST00000146916]
Predicted Effect probably benign
Transcript: ENSMUST00000072020
SMART Domains Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758

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 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 noncoding transcript
Transcript: ENSMUST00000128278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129798
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 probably benign
Transcript: ENSMUST00000135211
AA Change: G393D

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: G393D

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 noncoding transcript
Transcript: ENSMUST00000137631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141913
Predicted Effect probably benign
Transcript: ENSMUST00000142948
SMART Domains Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758

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: ENSMUST00000145878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146239
Predicted Effect probably damaging
Transcript: ENSMUST00000146358
AA Change: G428D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: G428D

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: G392D

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
AA Change: G392D

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: ENSMUST00000151470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153812
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,932,506 G233S probably benign Het
Abcc1 T A 16: 14,466,126 C1202S probably benign Het
Acaca C T 11: 84,245,204 probably benign Het
Ap3b1 T A 13: 94,477,021 F676Y probably damaging Het
Arhgef11 C A 3: 87,698,864 Q309K probably damaging Het
Asgr1 T C 11: 70,057,130 Y80H possibly damaging Het
Atp13a5 A T 16: 29,334,091 probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp8b2 A C 3: 89,954,589 probably null Het
Btnl2 A G 17: 34,356,222 M1V probably null Het
Cpsf3 T A 12: 21,293,297 M121K probably damaging Het
Creb3l3 A G 10: 81,084,834 I454T probably benign Het
Cyp2d12 A G 15: 82,556,740 E153G probably damaging Het
Dnah5 A G 15: 28,350,622 I2597V probably benign Het
Ercc5 C A 1: 44,156,944 S32R probably damaging Het
Fchsd2 T A 7: 101,277,600 N656K possibly damaging Het
Fga G A 3: 83,028,534 E23K probably benign Het
Fn1 T C 1: 71,597,676 T1925A possibly damaging Het
Fstl5 A T 3: 76,593,534 E423D probably damaging Het
Glg1 C T 8: 111,160,727 M465I possibly damaging Het
H2-M10.4 C A 17: 36,460,656 R210L probably benign Het
Hbb-y T G 7: 103,852,750 K105Q probably benign Het
Hspg2 A T 4: 137,557,445 probably benign Het
Ipo11 T C 13: 106,875,606 Y556C probably damaging Het
Itpr3 A G 17: 27,106,398 M1322V probably damaging Het
Jhy A G 9: 40,917,335 L425P probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Ms4a6c A T 19: 11,478,305 E159D possibly damaging Het
Msh6 A T 17: 87,989,515 L1213F probably damaging Het
Npy1r A C 8: 66,705,023 R328S possibly damaging Het
Olfr1247 A T 2: 89,609,498 N201K possibly damaging Het
Olfr988 A C 2: 85,353,050 L292R probably damaging Het
Pcdhb18 T G 18: 37,491,181 Y521* probably null Het
Pkhd1l1 A T 15: 44,483,814 Y192F probably damaging Het
Rdh12 T A 12: 79,222,052 I301N probably damaging Het
Rptor T C 11: 119,892,612 V1144A possibly damaging Het
Sap25 T C 5: 137,642,370 F171L possibly damaging Het
Senp5 A G 16: 31,990,079 L92P probably benign Het
Sfmbt1 T C 14: 30,815,537 S736P probably damaging Het
Tacr1 T C 6: 82,492,641 S169P probably damaging Het
Tbc1d21 A T 9: 58,363,101 Y130* probably null Het
Tmem117 T A 15: 95,094,561 N367K probably damaging Het
Tmem210 A G 2: 25,289,089 T130A possibly damaging Het
Ttn T G 2: 76,850,024 probably benign Het
Ttyh1 T C 7: 4,124,679 L122P probably damaging Het
Vmn2r60 T C 7: 42,195,586 F791S probably damaging Het
Vps13d A T 4: 145,164,559 N575K probably benign Het
Vps8 T C 16: 21,517,336 V746A probably damaging Het
Wdfy3 A T 5: 101,896,475 M1888K probably benign Het
Zfp595 T C 13: 67,320,953 D3G probably benign Het
Other mutations in Tle2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Tle2 APN 10 81581739 missense probably benign 0.12
IGL02809:Tle2 APN 10 81586362 unclassified probably null
IGL03235:Tle2 APN 10 81586251 missense probably benign 0.22
IGL03307:Tle2 APN 10 81590240 missense probably damaging 1.00
PIT4515001:Tle2 UTSW 10 81587130 missense possibly damaging 0.72
R0394:Tle2 UTSW 10 81577648 missense probably damaging 1.00
R0744:Tle2 UTSW 10 81588947 missense probably damaging 1.00
R0826:Tle2 UTSW 10 81586314 missense possibly damaging 0.95
R0833:Tle2 UTSW 10 81588947 missense probably damaging 1.00
R1796:Tle2 UTSW 10 81589497 critical splice donor site probably null
R2067:Tle2 UTSW 10 81580551 missense probably damaging 1.00
R2184:Tle2 UTSW 10 81590277 missense probably damaging 1.00
R2198:Tle2 UTSW 10 81590313 missense probably damaging 1.00
R4439:Tle2 UTSW 10 81581682 missense possibly damaging 0.62
R4440:Tle2 UTSW 10 81581682 missense possibly damaging 0.62
R4441:Tle2 UTSW 10 81581682 missense possibly damaging 0.62
R4513:Tle2 UTSW 10 81587560 missense probably damaging 1.00
R4839:Tle2 UTSW 10 81577684 missense probably damaging 1.00
R4863:Tle2 UTSW 10 81588891 missense possibly damaging 0.88
R5011:Tle2 UTSW 10 81584697 missense probably damaging 1.00
R5505:Tle2 UTSW 10 81581740 missense probably benign 0.00
R5538:Tle2 UTSW 10 81580584 missense probably damaging 1.00
R5790:Tle2 UTSW 10 81590315 missense probably damaging 1.00
R5917:Tle2 UTSW 10 81580916 critical splice donor site probably null
R6176:Tle2 UTSW 10 81587334 missense probably damaging 0.99
R6200:Tle2 UTSW 10 81588872 missense probably damaging 1.00
R6914:Tle2 UTSW 10 81586356 missense probably damaging 1.00
R7367:Tle2 UTSW 10 81580318 missense probably damaging 0.99
R7600:Tle2 UTSW 10 81586313 nonsense probably null
R7729:Tle2 UTSW 10 81587147 missense probably damaging 0.99
T0970:Tle2 UTSW 10 81580285 missense possibly damaging 0.71
Z1177:Tle2 UTSW 10 81582446 missense possibly damaging 0.95
Posted On2015-04-16