Incidental Mutation 'PIT4515001:Tle1'
ID 556296
Institutional Source Beutler Lab
Gene Symbol Tle1
Ensembl Gene ENSMUSG00000008305
Gene Name transducin-like enhancer of split 1
Synonyms C230057C06Rik, Estm14, Grg1, Tle4l
Accession Numbers
Essential gene? Possibly essential (E-score: 0.575) question?
Stock # PIT4515001 (G1)
Quality Score 91.0077
Status Not validated
Chromosome 4
Chromosomal Location 72035379-72119156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72117556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 35 (F35I)
Ref Sequence ENSEMBL: ENSMUSP00000102960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030095] [ENSMUST00000072695] [ENSMUST00000074216] [ENSMUST00000102848] [ENSMUST00000107337] [ENSMUST00000137075]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000030095
AA Change: F35I

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: F35I

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: F35I

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: F35I

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: F35I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: F35I

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: F43I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: F43I

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 possibly damaging
Transcript: ENSMUST00000107337
AA Change: F35I

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102960
Gene: ENSMUSG00000008305
AA Change: F35I

DomainStartEndE-ValueType
Pfam:TLE_N 1 136 7.2e-80 PFAM
low complexity region 145 173 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122923
Predicted Effect possibly damaging
Transcript: ENSMUST00000137075
AA Change: F57I

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118683
Gene: ENSMUSG00000008305
AA Change: F57I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132550
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.0%
  • 10x: 86.0%
  • 20x: 75.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,068 (GRCm39) R966* probably null Het
Adam32 A T 8: 25,404,342 (GRCm39) I221K possibly damaging Het
Adcy6 T C 15: 98,493,027 (GRCm39) T880A probably benign Het
Agpat5 T A 8: 18,896,657 (GRCm39) Y28N probably damaging Het
Atg2a A G 19: 6,303,615 (GRCm39) I1125V probably damaging Het
B4galt6 A G 18: 20,821,524 (GRCm39) Y335H probably benign Het
Bend3 A T 10: 43,386,630 (GRCm39) E341V probably damaging Het
Bltp1 T A 3: 37,028,385 (GRCm39) Y2351N probably damaging Het
Ccdc136 T A 6: 29,417,225 (GRCm39) V682E probably benign Het
Ccdc142 T C 6: 83,080,238 (GRCm39) C394R probably benign Het
Cfap58 A G 19: 48,023,122 (GRCm39) N845D probably benign Het
Col4a3 G A 1: 82,660,024 (GRCm39) G890R unknown Het
Cyp1a2 C A 9: 57,589,242 (GRCm39) V191L probably benign Het
Cyp51 A T 5: 4,149,122 (GRCm39) probably null Het
Diras2 T C 13: 52,661,783 (GRCm39) S175G possibly damaging Het
Dnah6 A G 6: 73,091,565 (GRCm39) F2242S probably damaging Het
Erg T A 16: 95,210,619 (GRCm39) N78Y probably benign Het
Fdft1 T A 14: 63,402,032 (GRCm39) Q49L probably benign Het
Frem1 G T 4: 82,818,663 (GRCm39) H2183Q probably damaging Het
Fut2 G A 7: 45,299,890 (GRCm39) T294I probably damaging Het
Gabrb1 A C 5: 71,858,160 (GRCm39) D62A probably damaging Het
Gbe1 T A 16: 70,238,004 (GRCm39) Y263* probably null Het
Gimap6 T C 6: 48,679,502 (GRCm39) D178G probably benign Het
Gss T A 2: 155,420,261 (GRCm39) T147S probably damaging Het
Hlcs A T 16: 94,068,275 (GRCm39) V315E probably benign Het
Hoxa3 C T 6: 52,147,164 (GRCm39) G363E unknown Het
Ift140 A G 17: 25,305,834 (GRCm39) N807S probably damaging Het
Iglc1 T G 16: 18,880,701 (GRCm39) D40A Het
Itga10 T A 3: 96,569,948 (GRCm39) I1120N probably damaging Het
Jak3 T C 8: 72,132,286 (GRCm39) V217A probably benign Het
Kank2 T G 9: 21,706,179 (GRCm39) I280L probably benign Het
Kcnk1 G T 8: 126,752,081 (GRCm39) G229V probably damaging Het
Kpna7 T C 5: 144,941,862 (GRCm39) T143A probably benign Het
Letmd1 C T 15: 100,374,683 (GRCm39) R310C probably damaging Het
Mga G A 2: 119,746,985 (GRCm39) V379I probably damaging Het
Mto1 T A 9: 78,364,699 (GRCm39) Y313N probably damaging Het
Muc5ac G A 7: 141,361,153 (GRCm39) C1488Y probably damaging Het
Nde1 T A 16: 13,988,357 (GRCm39) probably null Het
Nfatc3 T C 8: 106,805,835 (GRCm39) S235P possibly damaging Het
Nup88 T C 11: 70,835,547 (GRCm39) D602G probably benign Het
Or11g25 T A 14: 50,723,536 (GRCm39) M207K probably benign Het
Or2h1b A C 17: 37,462,270 (GRCm39) S198A probably benign Het
Pcnx1 G A 12: 82,038,561 (GRCm39) C1309Y Het
Phldb1 A G 9: 44,627,257 (GRCm39) I396T probably benign Het
Pramel38 T C 5: 94,368,831 (GRCm39) M442T probably benign Het
Pramel41 A C 5: 94,594,694 (GRCm39) K185Q probably benign Het
Prss53 G A 7: 127,487,963 (GRCm39) T173I probably benign Het
Ptpn11 C A 5: 121,302,617 (GRCm39) D156Y probably damaging Het
Rfx8 A G 1: 39,729,265 (GRCm39) Y167H probably benign Het
Rpsa T A 9: 119,960,214 (GRCm39) I259N probably benign Het
Rrm2b G T 15: 37,947,048 (GRCm39) D84E probably benign Het
Scgb2b19 A T 7: 32,979,036 (GRCm39) probably null Het
Sik3 T C 9: 46,120,029 (GRCm39) L706P probably damaging Het
Slc4a4 A T 5: 89,281,112 (GRCm39) E426D probably damaging Het
Slc8a2 C A 7: 15,874,504 (GRCm39) L251I possibly damaging Het
Taf6 T C 5: 138,180,504 (GRCm39) K287E probably benign Het
Tiam1 G A 16: 89,657,130 (GRCm39) T702I probably damaging Het
Tle2 A G 10: 81,422,964 (GRCm39) Q454R possibly damaging Het
Tsc2 T C 17: 24,840,121 (GRCm39) N425S probably benign Het
Utp3 A G 5: 88,702,564 (GRCm39) D31G probably benign Het
Vmn1r173 A T 7: 23,401,911 (GRCm39) R49* probably null Het
Ybx2 T A 11: 69,831,224 (GRCm39) V273E probably benign Het
Zbtb22 G A 17: 34,137,672 (GRCm39) A606T probably benign Het
Zcchc8 A T 5: 123,838,995 (GRCm39) D514E probably benign Het
Zfy2 T A Y: 2,117,096 (GRCm39) I244F probably benign Het
Zglp1 T C 9: 20,977,485 (GRCm39) N110S probably benign 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
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
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'- CGTGAATGACAGGGCTTAACG -3'
(R):5'- CCTCTCTAAAGTGAACCGAGG -3'

Sequencing Primer
(F):5'- TGACAGGGCTTAACGGTGACTC -3'
(R):5'- AACCGAGGGTTCTAGTTTGGGC -3'
Posted On 2019-06-07