Incidental Mutation 'R4655:Tle1'
ID 352339
Institutional Source Beutler Lab
Gene Symbol Tle1
Ensembl Gene ENSMUSG00000008305
Gene Name transducin-like enhancer of split 1
Synonyms C230057C06Rik, Estm14, Grg1, Tle4l
MMRRC Submission 041915-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # R4655 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 72035379-72119156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72063581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 224 (I224T)
Ref Sequence ENSEMBL: ENSMUSP00000072481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030095] [ENSMUST00000072695] [ENSMUST00000074216] [ENSMUST00000102848] [ENSMUST00000140154]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030095
AA Change: I234T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: I234T

DomainStartEndE-ValueType
Pfam:TLE_N 1 143 9.1e-77 PFAM
low complexity region 155 183 N/A INTRINSIC
low complexity region 240 255 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 292 314 N/A INTRINSIC
low complexity region 411 422 N/A INTRINSIC
WD40 484 521 4.18e-2 SMART
WD40 527 568 1.03e-1 SMART
WD40 573 612 9.38e-5 SMART
WD40 615 654 1.14e-8 SMART
WD40 657 695 3.07e1 SMART
WD40 697 736 8.96e-2 SMART
WD40 737 777 4.14e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000072695
AA Change: I224T

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: I224T

DomainStartEndE-ValueType
Pfam:TLE_N 1 136 2.6e-78 PFAM
low complexity region 145 173 N/A INTRINSIC
low complexity region 230 245 N/A INTRINSIC
low complexity region 255 266 N/A INTRINSIC
low complexity region 282 304 N/A INTRINSIC
low complexity region 401 412 N/A INTRINSIC
WD40 474 511 4.18e-2 SMART
WD40 517 558 1.03e-1 SMART
WD40 563 602 9.38e-5 SMART
WD40 605 644 1.14e-8 SMART
WD40 647 685 3.07e1 SMART
WD40 687 726 8.96e-2 SMART
WD40 727 767 4.14e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074216
AA Change: I224T

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: I224T

DomainStartEndE-ValueType
Pfam:TLE_N 1 136 1.3e-78 PFAM
low complexity region 145 173 N/A INTRINSIC
low complexity region 230 245 N/A INTRINSIC
low complexity region 255 266 N/A INTRINSIC
low complexity region 282 304 N/A INTRINSIC
low complexity region 401 412 N/A INTRINSIC
WD40 474 511 4.18e-2 SMART
WD40 517 558 1.03e-1 SMART
WD40 563 602 9.38e-5 SMART
WD40 605 644 1.14e-8 SMART
WD40 647 685 3.07e1 SMART
WD40 687 726 8.96e-2 SMART
WD40 727 767 4.14e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102848
AA Change: I232T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: I232T

DomainStartEndE-ValueType
Pfam:TLE_N 1 144 1.3e-76 PFAM
low complexity region 153 181 N/A INTRINSIC
low complexity region 238 253 N/A INTRINSIC
low complexity region 263 274 N/A INTRINSIC
low complexity region 290 312 N/A INTRINSIC
low complexity region 408 419 N/A INTRINSIC
WD40 481 518 4.18e-2 SMART
WD40 524 565 1.03e-1 SMART
WD40 570 609 9.38e-5 SMART
WD40 612 651 1.14e-8 SMART
WD40 654 692 3.07e1 SMART
WD40 694 733 8.96e-2 SMART
WD40 734 774 4.14e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132550
Predicted Effect probably benign
Transcript: ENSMUST00000140154
SMART Domains Protein: ENSMUSP00000118513
Gene: ENSMUSG00000008305

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 29 51 N/A INTRINSIC
Meta Mutation Damage Score 0.0579 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (79/82)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,314,778 (GRCm39) V300A probably benign Het
Aadacl4fm2 A T 4: 144,281,645 (GRCm39) F382L probably benign Het
Abca4 A G 3: 121,941,147 (GRCm39) N405S possibly damaging Het
Acsl3 A G 1: 78,668,063 (GRCm39) T212A probably damaging Het
Ahnak A G 19: 8,986,065 (GRCm39) K2450E probably damaging Het
Akap9 G A 5: 4,096,403 (GRCm39) R2426H probably benign Het
Akr1c6 T C 13: 4,499,428 (GRCm39) V266A probably damaging Het
Ccs A G 19: 4,889,232 (GRCm39) V11A probably benign Het
Cdc14a T A 3: 116,122,136 (GRCm39) H228L probably damaging Het
Cgn G A 3: 94,686,559 (GRCm39) Q248* probably null Het
Cux2 G A 5: 122,023,997 (GRCm39) T92M possibly damaging Het
Cyb5r4 A G 9: 86,941,482 (GRCm39) K68E probably benign Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dnah9 T C 11: 65,846,558 (GRCm39) N2918S probably benign Het
Dyrk1b T C 7: 27,885,176 (GRCm39) V438A probably damaging Het
Eml1 G A 12: 108,500,972 (GRCm39) D625N probably damaging Het
Eno2 T C 6: 124,740,889 (GRCm39) probably null Het
Ephb3 G A 16: 21,040,958 (GRCm39) G672D probably damaging Het
Evx1 A T 6: 52,291,182 (GRCm39) D118V probably damaging Het
Fbxl13 A G 5: 21,787,037 (GRCm39) L300S probably damaging Het
Fbxo30 T C 10: 11,166,837 (GRCm39) F520L probably damaging Het
Flt3 G A 5: 147,286,403 (GRCm39) P728S possibly damaging Het
Gas2l2 T C 11: 83,314,001 (GRCm39) E437G possibly damaging Het
Gldc A T 19: 30,138,102 (GRCm39) probably benign Het
Gm18856 T C 13: 14,140,232 (GRCm39) probably benign Het
Gm7358 A T 17: 14,279,410 (GRCm39) noncoding transcript Het
Grifin A G 5: 140,550,300 (GRCm39) V47A possibly damaging Het
H3c7 T C 13: 23,728,923 (GRCm39) V90A probably benign Het
Hddc2 G T 10: 31,204,016 (GRCm39) probably benign Het
Hkdc1 T A 10: 62,236,242 (GRCm39) R433S probably benign Het
Htt A G 5: 35,063,476 (GRCm39) D2918G probably benign Het
Itga2 A C 13: 115,009,805 (GRCm39) D383E probably benign Het
Itpr1 G A 6: 108,458,254 (GRCm39) C2007Y probably damaging Het
Krt42 C A 11: 100,160,671 (GRCm39) Q9H probably damaging Het
Lyrm7 T C 11: 54,739,434 (GRCm39) Q72R probably damaging Het
Mmp9 A G 2: 164,793,122 (GRCm39) S424G probably benign Het
Mtr A G 13: 12,242,679 (GRCm39) V457A probably damaging Het
Myo15b T C 11: 115,781,523 (GRCm39) L1359P probably damaging Het
Neb A G 2: 52,117,311 (GRCm39) L4087P probably damaging Het
Npl T C 1: 153,391,152 (GRCm39) D201G probably damaging Het
Or1af1 A G 2: 37,109,885 (GRCm39) N128S probably benign Het
Or8b1c C A 9: 38,384,120 (GRCm39) P26T probably damaging Het
Or8k3 A G 2: 86,059,037 (GRCm39) S93P probably benign Het
Pclo T C 5: 14,732,397 (GRCm39) probably benign Het
Pdp2 A G 8: 105,321,168 (GRCm39) D339G probably benign Het
Pfdn6 A T 17: 34,159,014 (GRCm39) Y16* probably null Het
Pilra C T 5: 137,833,588 (GRCm39) probably null Het
Prrc2a A T 17: 35,374,590 (GRCm39) N1353K probably benign Het
Prss3l T A 6: 41,422,984 (GRCm39) I6F probably benign Het
Ptger4 C A 15: 5,272,545 (GRCm39) A50S probably benign Het
Pus10 T C 11: 23,622,707 (GRCm39) V109A probably benign Het
Pus3 A C 9: 35,476,228 (GRCm39) D39A probably benign Het
Rab44 A G 17: 29,358,168 (GRCm39) N119D probably benign Het
Rasgrp2 T C 19: 6,454,876 (GRCm39) probably benign Het
Rhobtb2 T A 14: 70,033,438 (GRCm39) I511F probably damaging Het
Sfxn1 C A 13: 54,246,457 (GRCm39) A167D probably benign Het
Slc12a6 A G 2: 112,188,111 (GRCm39) probably null Het
Smyd4 C T 11: 75,281,558 (GRCm39) L344F probably damaging Het
Srsf11 A G 3: 157,728,972 (GRCm39) V93A probably benign Het
Tmc6 A T 11: 117,663,868 (GRCm39) S479R possibly damaging Het
Tmprss4 T C 9: 45,087,702 (GRCm39) M296V probably benign Het
Togaram1 A G 12: 65,013,894 (GRCm39) N382D possibly damaging Het
Tpcn1 A G 5: 120,677,322 (GRCm39) S662P probably damaging Het
Tppp G T 13: 74,178,983 (GRCm39) R141S probably benign Het
Ttc21a A G 9: 119,790,828 (GRCm39) D858G possibly damaging Het
Tuba3a A G 6: 125,258,130 (GRCm39) S287P possibly damaging Het
Unc80 T G 1: 66,710,821 (GRCm39) S2697A probably benign Het
Vmn1r69 A G 7: 10,314,026 (GRCm39) V235A probably benign Het
Vmn2r26 T A 6: 124,038,375 (GRCm39) I650N probably damaging Het
Vmn2r53 G A 7: 12,315,932 (GRCm39) T629I possibly damaging Het
Vmn2r74 T C 7: 85,610,555 (GRCm39) T46A probably benign Het
Vmn2r84 A T 10: 130,229,973 (GRCm39) C46* probably null Het
Vps13b T C 15: 35,770,835 (GRCm39) S2093P probably benign Het
Wdfy4 T C 14: 32,711,893 (GRCm39) R2375G probably damaging Het
Wnk2 T G 13: 49,210,359 (GRCm39) E1820A probably damaging Het
Other mutations in Tle1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Tle1 APN 4 72,087,355 (GRCm39) missense possibly damaging 0.94
IGL00972:Tle1 APN 4 72,040,637 (GRCm39) missense probably damaging 1.00
IGL01548:Tle1 APN 4 72,088,955 (GRCm39) missense probably damaging 1.00
IGL01737:Tle1 APN 4 72,116,058 (GRCm39) splice site probably benign
IGL01798:Tle1 APN 4 72,055,385 (GRCm39) missense probably damaging 1.00
IGL01943:Tle1 APN 4 72,040,639 (GRCm39) missense probably damaging 1.00
BB006:Tle1 UTSW 4 72,118,239 (GRCm39) missense possibly damaging 0.50
BB016:Tle1 UTSW 4 72,118,239 (GRCm39) missense possibly damaging 0.50
PIT4515001:Tle1 UTSW 4 72,117,556 (GRCm39) missense possibly damaging 0.47
R0140:Tle1 UTSW 4 72,038,422 (GRCm39) missense probably damaging 1.00
R0544:Tle1 UTSW 4 72,043,227 (GRCm39) missense probably damaging 1.00
R0603:Tle1 UTSW 4 72,036,584 (GRCm39) missense probably damaging 1.00
R0729:Tle1 UTSW 4 72,044,679 (GRCm39) splice site probably benign
R0786:Tle1 UTSW 4 72,117,598 (GRCm39) missense probably damaging 1.00
R0939:Tle1 UTSW 4 72,036,771 (GRCm39) missense probably damaging 1.00
R1297:Tle1 UTSW 4 72,043,075 (GRCm39) missense probably damaging 1.00
R1465:Tle1 UTSW 4 72,058,068 (GRCm39) missense probably damaging 1.00
R1465:Tle1 UTSW 4 72,058,068 (GRCm39) missense probably damaging 1.00
R1512:Tle1 UTSW 4 72,059,495 (GRCm39) missense probably damaging 1.00
R1967:Tle1 UTSW 4 72,038,463 (GRCm39) missense probably damaging 1.00
R2218:Tle1 UTSW 4 72,117,556 (GRCm39) missense possibly damaging 0.47
R3713:Tle1 UTSW 4 72,044,659 (GRCm39) missense possibly damaging 0.70
R4367:Tle1 UTSW 4 72,036,400 (GRCm39) utr 3 prime probably benign
R4379:Tle1 UTSW 4 72,036,400 (GRCm39) utr 3 prime probably benign
R4380:Tle1 UTSW 4 72,036,400 (GRCm39) utr 3 prime probably benign
R4662:Tle1 UTSW 4 72,055,335 (GRCm39) missense possibly damaging 0.92
R4731:Tle1 UTSW 4 72,043,256 (GRCm39) missense possibly damaging 0.71
R4732:Tle1 UTSW 4 72,043,256 (GRCm39) missense possibly damaging 0.71
R4733:Tle1 UTSW 4 72,043,256 (GRCm39) missense possibly damaging 0.71
R4812:Tle1 UTSW 4 72,063,591 (GRCm39) missense probably damaging 0.98
R5066:Tle1 UTSW 4 72,076,504 (GRCm39) missense probably benign 0.24
R5288:Tle1 UTSW 4 72,060,081 (GRCm39) missense probably damaging 1.00
R5386:Tle1 UTSW 4 72,060,081 (GRCm39) missense probably damaging 1.00
R5405:Tle1 UTSW 4 72,057,208 (GRCm39) intron probably benign
R5579:Tle1 UTSW 4 72,058,045 (GRCm39) missense probably damaging 1.00
R5590:Tle1 UTSW 4 72,043,208 (GRCm39) missense possibly damaging 0.91
R5762:Tle1 UTSW 4 72,038,372 (GRCm39) splice site probably null
R6617:Tle1 UTSW 4 72,059,517 (GRCm39) missense probably damaging 0.98
R6750:Tle1 UTSW 4 72,040,687 (GRCm39) missense probably damaging 1.00
R7077:Tle1 UTSW 4 72,076,612 (GRCm39) missense probably benign 0.25
R7153:Tle1 UTSW 4 72,057,298 (GRCm39) missense probably benign 0.03
R7156:Tle1 UTSW 4 72,088,953 (GRCm39) missense probably benign 0.15
R7266:Tle1 UTSW 4 72,057,924 (GRCm39) critical splice donor site probably null
R7316:Tle1 UTSW 4 72,036,529 (GRCm39) missense probably benign 0.01
R7478:Tle1 UTSW 4 72,055,349 (GRCm39) missense probably damaging 0.96
R7523:Tle1 UTSW 4 72,063,655 (GRCm39) missense possibly damaging 0.94
R7736:Tle1 UTSW 4 72,117,571 (GRCm39) missense probably damaging 1.00
R7862:Tle1 UTSW 4 72,117,552 (GRCm39) missense probably damaging 1.00
R7863:Tle1 UTSW 4 72,059,529 (GRCm39) missense probably null 0.68
R7929:Tle1 UTSW 4 72,118,239 (GRCm39) missense possibly damaging 0.50
R8074:Tle1 UTSW 4 72,057,216 (GRCm39) frame shift probably null
R8233:Tle1 UTSW 4 72,043,181 (GRCm39) missense probably benign 0.11
R8315:Tle1 UTSW 4 72,044,428 (GRCm39) nonsense probably null
R8350:Tle1 UTSW 4 72,057,203 (GRCm39) intron probably benign
R8494:Tle1 UTSW 4 72,043,241 (GRCm39) missense possibly damaging 0.90
R8512:Tle1 UTSW 4 72,040,670 (GRCm39) missense possibly damaging 0.64
R8919:Tle1 UTSW 4 72,076,525 (GRCm39) missense possibly damaging 0.94
R9171:Tle1 UTSW 4 72,043,232 (GRCm39) missense possibly damaging 0.50
R9192:Tle1 UTSW 4 72,036,753 (GRCm39) missense probably benign 0.12
R9391:Tle1 UTSW 4 72,116,159 (GRCm39) missense probably damaging 1.00
R9452:Tle1 UTSW 4 72,040,596 (GRCm39) missense probably benign 0.41
R9481:Tle1 UTSW 4 72,044,504 (GRCm39) missense probably damaging 0.96
R9497:Tle1 UTSW 4 72,071,135 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- CGTCCAGTGTAGAAACTTCCC -3'
(R):5'- GTCTAAATGTTTGCCACAGGG -3'

Sequencing Primer
(F):5'- AGTGTAGAAACTTCCCTGCTTTAC -3'
(R):5'- ACAGGGCCTTAAGACTCGG -3'
Posted On 2015-10-08