Incidental Mutation 'R5762:Tle1'
ID 462727
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: 0.542) question?
Stock # R5762 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 72035379-72119156 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 72038372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030095] [ENSMUST00000030095] [ENSMUST00000072695] [ENSMUST00000074216] [ENSMUST00000074216] [ENSMUST00000102848]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000030095
SMART Domains Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305

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 null
Transcript: ENSMUST00000030095
SMART Domains Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305

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 null
Transcript: ENSMUST00000072695
SMART Domains Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305

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 null
Transcript: ENSMUST00000074216
SMART Domains Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305

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 null
Transcript: ENSMUST00000074216
SMART Domains Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305

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 null
Transcript: ENSMUST00000102848
SMART Domains Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305

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: ENSMUST00000123259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132550
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,044,445 (GRCm39) D148E probably benign Het
Abca13 A G 11: 9,531,665 (GRCm39) I4631V probably damaging Het
Adamts16 A T 13: 70,886,617 (GRCm39) W1058R probably damaging Het
Adgrf5 A G 17: 43,741,586 (GRCm39) I163V probably null Het
Ano1 T A 7: 144,201,774 (GRCm39) Y338F probably damaging Het
Atp4a A G 7: 30,418,521 (GRCm39) D603G probably damaging Het
Bmp2k GGCCCGC GGC 5: 97,235,050 (GRCm39) probably null Het
Brinp2 T C 1: 158,074,156 (GRCm39) D655G probably benign Het
C3ar1 A G 6: 122,827,321 (GRCm39) S299P probably benign Het
Calhm1 T A 19: 47,132,058 (GRCm39) probably null Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Cd27 A G 6: 125,213,561 (GRCm39) F48S probably damaging Het
Cfap52 A G 11: 67,844,947 (GRCm39) Y41H possibly damaging Het
Cntn5 A G 9: 9,748,394 (GRCm39) S701P possibly damaging Het
Ctbp2 G T 7: 132,597,088 (GRCm39) A665D probably damaging Het
Ctsd C A 7: 141,937,266 (GRCm39) G81C probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dpysl4 C T 7: 138,671,853 (GRCm39) A67V probably benign Het
Dst C T 1: 34,218,438 (GRCm39) T1626I probably damaging Het
Etfdh A C 3: 79,523,261 (GRCm39) D217E probably null Het
Far1 T A 7: 113,167,396 (GRCm39) Y494N probably damaging Het
Fndc1 G A 17: 7,990,366 (GRCm39) T1110M unknown Het
Frmd4a G T 2: 4,488,876 (GRCm39) D78Y probably damaging Het
Fsip2 G A 2: 82,808,260 (GRCm39) M1526I probably benign Het
Ggn C T 7: 28,871,777 (GRCm39) P399S probably damaging Het
H2ac6 C T 13: 23,867,888 (GRCm39) G5S probably damaging Het
Hap1 A G 11: 100,246,600 (GRCm39) W102R probably damaging Het
Herc2 T A 7: 55,846,938 (GRCm39) S3629R possibly damaging Het
Hyal4 A C 6: 24,765,861 (GRCm39) Y405S possibly damaging Het
Ifi204 G A 1: 173,580,325 (GRCm39) T395I probably damaging Het
Igsf9 A G 1: 172,326,005 (GRCm39) E1147G probably damaging Het
Inpp5a T A 7: 139,118,097 (GRCm39) I225N possibly damaging Het
Kcnv1 T C 15: 44,972,518 (GRCm39) K455R probably damaging Het
Kmt2c T C 5: 25,515,455 (GRCm39) D2796G probably benign Het
Ngp A T 9: 110,251,401 (GRCm39) D143V probably benign Het
Nlrp5 T C 7: 23,118,264 (GRCm39) C663R possibly damaging Het
Nup205 G T 6: 35,204,615 (GRCm39) R1469L probably damaging Het
Nup205 T A 6: 35,207,483 (GRCm39) F1512I probably damaging Het
Nwd1 T C 8: 73,397,542 (GRCm39) S594P probably damaging Het
Nxpe2 A C 9: 48,230,875 (GRCm39) V498G probably benign Het
P3h4 G A 11: 100,302,677 (GRCm39) R320C probably damaging Het
Plec A G 15: 76,063,455 (GRCm39) L2273P probably damaging Het
Ppp1r14b C T 19: 6,953,951 (GRCm39) L100F probably damaging Het
Prlhr C T 19: 60,455,506 (GRCm39) W353* probably null Het
Ralgps2 C T 1: 156,660,234 (GRCm39) probably null Het
Rrp12 C T 19: 41,868,591 (GRCm39) G584D possibly damaging Het
Scamp3 T C 3: 89,088,504 (GRCm39) F237L probably damaging Het
Scn10a A G 9: 119,464,507 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shroom1 A T 11: 53,354,818 (GRCm39) D246V probably benign Het
Snapc4 T A 2: 26,268,618 (GRCm39) E14D probably damaging Het
Spag5 A T 11: 78,194,972 (GRCm39) Q93L probably benign Het
Tcstv5 T A 13: 120,411,501 (GRCm39) Q35L probably benign Het
Ttll10 G A 4: 156,119,438 (GRCm39) P683S possibly damaging Het
Unc13c A C 9: 73,719,649 (GRCm39) D1006E probably benign Het
Unc80 A T 1: 66,732,955 (GRCm39) K3101N possibly damaging Het
Vdac1 A G 11: 52,278,280 (GRCm39) Y247C possibly damaging Het
Vmn2r1 G A 3: 63,997,474 (GRCm39) V377I probably benign Het
Vmn2r23 A G 6: 123,710,352 (GRCm39) T552A probably damaging Het
Xrcc3 C T 12: 111,771,044 (GRCm39) R295Q probably damaging Het
Zfp780b T C 7: 27,664,243 (GRCm39) N104S probably benign Het
Zkscan17 A G 11: 59,378,397 (GRCm39) V262A possibly 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
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'- TTCTCAAATTAACAAAGCAGGCCG -3'
(R):5'- GCTTACTCCACTTGCTGACG -3'

Sequencing Primer
(F):5'- GAGACACACATTACTCTTCTCTGAGG -3'
(R):5'- GAGTAAACTCATCAGTGATCCTGTC -3'
Posted On 2017-03-01