Incidental Mutation 'R7077:Tle1'
ID 549264
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 045172-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.575) question?
Stock # R7077 (G1)
Quality Score 202.009
Status Validated
Chromosome 4
Chromosomal Location 72035379-72119156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 72076612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 139 (P139A)
Ref Sequence ENSEMBL: ENSMUSP00000072481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030095] [ENSMUST00000072695] [ENSMUST00000074216] [ENSMUST00000102848] [ENSMUST00000107337] [ENSMUST00000137075]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030095
AA Change: P149A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: P149A

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 probably benign
Transcript: ENSMUST00000072695
AA Change: P139A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: P139A

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 possibly damaging
Transcript: ENSMUST00000074216
AA Change: P139A

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: P139A

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: P147A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: P147A

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 probably benign
Transcript: ENSMUST00000107337
AA Change: P139A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102960
Gene: ENSMUSG00000008305
AA Change: P139A

DomainStartEndE-ValueType
Pfam:TLE_N 1 136 7.2e-80 PFAM
low complexity region 145 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137075
AA Change: P161A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000118683
Gene: ENSMUSG00000008305
AA Change: P161A

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
Pfam:TLE_N 22 158 4.2e-77 PFAM
low complexity region 167 195 N/A INTRINSIC
Meta Mutation Damage Score 0.0936 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C T 12: 81,605,893 (GRCm39) C623Y probably damaging Het
Ago3 T C 4: 126,265,325 (GRCm39) K322R probably null Het
Ankrd17 T C 5: 90,433,723 (GRCm39) H682R possibly damaging Het
Aoah A G 13: 21,094,276 (GRCm39) D187G probably damaging Het
Arhgap17 T C 7: 122,879,231 (GRCm39) D840G unknown Het
AW551984 C T 9: 39,502,723 (GRCm39) V650I probably benign Het
Bok T A 1: 93,616,911 (GRCm39) Y86N probably damaging Het
Ccdc146 T A 5: 21,510,272 (GRCm39) N580I possibly damaging Het
Ccng2 T C 5: 93,417,199 (GRCm39) S72P possibly damaging Het
Cfap74 T G 4: 155,540,134 (GRCm39) I977S unknown Het
Cobl T C 11: 12,203,441 (GRCm39) N1087S probably benign Het
Cyp21a1 C A 17: 35,021,333 (GRCm39) R346L probably damaging Het
Eif4a1 A C 11: 69,561,490 (GRCm39) F52L probably damaging Het
Eif4ebp2 A C 10: 61,269,580 (GRCm39) I120S probably damaging Het
Enpp2 A C 15: 54,764,787 (GRCm39) D146E probably benign Het
Exosc9 T C 3: 36,607,205 (GRCm39) Y30H probably damaging Het
Fam117a G A 11: 95,268,498 (GRCm39) G300S probably benign Het
Focad C A 4: 88,328,914 (GRCm39) A1709E unknown Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fsip2 T C 2: 82,813,496 (GRCm39) F3272L probably benign Het
Gcnt2 G A 13: 41,013,896 (GRCm39) M22I probably benign Het
Gjd4 T C 18: 9,280,928 (GRCm39) E50G probably damaging Het
Gm10375 G T 14: 43,840,427 (GRCm39) T162K probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gm4924 T C 10: 82,215,057 (GRCm39) F952L unknown Het
Heatr1 T C 13: 12,433,045 (GRCm39) F1132L possibly damaging Het
Hnrnpu A G 1: 178,159,756 (GRCm39) Y442H unknown Het
Hp1bp3 C A 4: 137,966,929 (GRCm39) T408N probably damaging Het
Htra3 A G 5: 35,825,660 (GRCm39) V198A probably damaging Het
Katnal1 T C 5: 148,828,547 (GRCm39) T300A probably benign Het
Lipo5 G T 19: 33,445,170 (GRCm39) P133Q Het
Lrp1b A T 2: 41,660,858 (GRCm39) H197Q Het
Mdc1 C A 17: 36,156,839 (GRCm39) A82D probably damaging Het
Mstn A T 1: 53,103,408 (GRCm39) D248V probably benign Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Ola1 G A 2: 72,972,308 (GRCm39) T221I probably damaging Het
Or52z1 A G 7: 103,436,593 (GRCm39) I297T probably damaging Het
Or5t7 T C 2: 86,507,236 (GRCm39) Y147C possibly damaging Het
Or7e166 T A 9: 19,624,428 (GRCm39) S102T probably benign Het
Or8c20 T A 9: 38,261,266 (GRCm39) Y290N probably damaging Het
Phldb1 T C 9: 44,623,201 (GRCm39) T618A possibly damaging Het
Pkd1 T G 17: 24,810,093 (GRCm39) W3565G probably damaging Het
Prl3a1 A T 13: 27,460,086 (GRCm39) N190I probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ptpn11 C T 5: 121,281,633 (GRCm39) R484Q probably benign Het
Rapgef4 T C 2: 72,071,820 (GRCm39) M900T probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Smarcd3 G T 5: 24,799,960 (GRCm39) A270D probably damaging Het
Srgap2 A G 1: 131,272,187 (GRCm39) M33T Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tsbp1 C A 17: 34,659,856 (GRCm39) T93N possibly damaging Het
Zfp658 T A 7: 43,223,413 (GRCm39) S563T probably benign Het
Zswim9 G A 7: 12,993,679 (GRCm39) R826C 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
R4655:Tle1 UTSW 4 72,063,581 (GRCm39) missense possibly damaging 0.68
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
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'- CACTGTCTGAGTATGGGAGC -3'
(R):5'- TGGATGGTTTCTCTATCACCAC -3'

Sequencing Primer
(F):5'- TCTGAGTATGGGAGCAAAGCCTAATC -3'
(R):5'- GGATGGTTTCTCTATCACCACTACTG -3'
Posted On 2019-05-15