Incidental Mutation 'IGL02651:Tle2'
ID 302133
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02651
Quality Score
Status
Chromosome 10
Chromosomal Location 81410395-81426679 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81422723 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000146916] [ENSMUST00000146358] [ENSMUST00000135211] [ENSMUST00000142948]
AlphaFold Q9WVB2
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 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 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 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: ENSMUST00000141913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145878
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: ENSMUST00000153812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153379
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,909,906 (GRCm39) G233S probably benign Het
Abcc1 T A 16: 14,283,990 (GRCm39) C1202S probably benign Het
Acaca C T 11: 84,136,030 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,613,529 (GRCm39) F676Y probably damaging Het
Arhgef11 C A 3: 87,606,171 (GRCm39) Q309K probably damaging Het
Asgr1 T C 11: 69,947,956 (GRCm39) Y80H possibly damaging Het
Atp13a5 A T 16: 29,152,909 (GRCm39) probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp8b2 A C 3: 89,861,896 (GRCm39) probably null Het
Btnl2 A G 17: 34,575,196 (GRCm39) M1V probably null Het
Cpsf3 T A 12: 21,343,298 (GRCm39) M121K probably damaging Het
Creb3l3 A G 10: 80,920,668 (GRCm39) I454T probably benign Het
Cyp2d12 A G 15: 82,440,941 (GRCm39) E153G probably damaging Het
Dnah5 A G 15: 28,350,768 (GRCm39) I2597V probably benign Het
Ercc5 C A 1: 44,196,104 (GRCm39) S32R probably damaging Het
Fchsd2 T A 7: 100,926,807 (GRCm39) N656K possibly damaging Het
Fga G A 3: 82,935,841 (GRCm39) E23K probably benign Het
Fn1 T C 1: 71,636,835 (GRCm39) T1925A possibly damaging Het
Fstl5 A T 3: 76,500,841 (GRCm39) E423D probably damaging Het
Glg1 C T 8: 111,887,359 (GRCm39) M465I possibly damaging Het
H2-M10.4 C A 17: 36,771,548 (GRCm39) R210L probably benign Het
Hbb-y T G 7: 103,501,957 (GRCm39) K105Q probably benign Het
Hspg2 A T 4: 137,284,756 (GRCm39) probably benign Het
Ipo11 T C 13: 107,012,114 (GRCm39) Y556C probably damaging Het
Itpr3 A G 17: 27,325,372 (GRCm39) M1322V probably damaging Het
Jhy A G 9: 40,828,631 (GRCm39) L425P probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Ms4a6c A T 19: 11,455,669 (GRCm39) E159D possibly damaging Het
Msh6 A T 17: 88,296,943 (GRCm39) L1213F probably damaging Het
Npy1r A C 8: 67,157,675 (GRCm39) R328S possibly damaging Het
Or4a74 A T 2: 89,439,842 (GRCm39) N201K possibly damaging Het
Or5ak20 A C 2: 85,183,394 (GRCm39) L292R probably damaging Het
Pcdhb18 T G 18: 37,624,234 (GRCm39) Y521* probably null Het
Pkhd1l1 A T 15: 44,347,210 (GRCm39) Y192F probably damaging Het
Rdh12 T A 12: 79,268,826 (GRCm39) I301N probably damaging Het
Rptor T C 11: 119,783,438 (GRCm39) V1144A possibly damaging Het
Sap25 T C 5: 137,640,632 (GRCm39) F171L possibly damaging Het
Senp5 A G 16: 31,808,897 (GRCm39) L92P probably benign Het
Sfmbt1 T C 14: 30,537,494 (GRCm39) S736P probably damaging Het
Tacr1 T C 6: 82,469,622 (GRCm39) S169P probably damaging Het
Tbc1d21 A T 9: 58,270,384 (GRCm39) Y130* probably null Het
Tmem117 T A 15: 94,992,442 (GRCm39) N367K probably damaging Het
Tmem210 A G 2: 25,179,101 (GRCm39) T130A possibly damaging Het
Ttn T G 2: 76,680,368 (GRCm39) probably benign Het
Ttyh1 T C 7: 4,127,678 (GRCm39) L122P probably damaging Het
Vmn2r60 T C 7: 41,845,010 (GRCm39) F791S probably damaging Het
Vps13d A T 4: 144,891,129 (GRCm39) N575K probably benign Het
Vps8 T C 16: 21,336,086 (GRCm39) V746A probably damaging Het
Wdfy3 A T 5: 102,044,341 (GRCm39) M1888K probably benign Het
Zfp595 T C 13: 67,469,017 (GRCm39) D3G probably benign Het
Other mutations in Tle2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Tle2 APN 10 81,417,573 (GRCm39) missense probably benign 0.12
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
T0970:Tle2 UTSW 10 81,416,119 (GRCm39) missense possibly damaging 0.71
Z1177:Tle2 UTSW 10 81,418,280 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16