Incidental Mutation 'R8315:Tle1'
ID 641622
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 067720-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.575) question?
Stock # R8315 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 72035379-72119156 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 72044428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 526 (C526*)
Ref Sequence ENSEMBL: ENSMUSP00000072481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030095] [ENSMUST00000072695] [ENSMUST00000074216] [ENSMUST00000102848]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000030095
AA Change: C536*
SMART Domains Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: C536*

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
AA Change: C526*
SMART Domains Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: C526*

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
AA Change: C526*
SMART Domains Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: C526*

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
AA Change: C533*
SMART Domains Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: C533*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,328,460 (GRCm39) E3511V probably null Het
Abca13 A G 11: 9,535,502 (GRCm39) T4709A probably benign Het
Aff1 G T 5: 103,958,956 (GRCm39) V342F probably damaging Het
Ahnak2 T A 12: 112,745,756 (GRCm39) Q1698L Het
Ajap1 G T 4: 153,516,813 (GRCm39) T176K probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Cct3 A G 3: 88,220,564 (GRCm39) T259A probably benign Het
Cdk8 C T 5: 146,205,061 (GRCm39) L21F probably damaging Het
Cimip4 T C 15: 78,262,686 (GRCm39) R262G probably benign Het
Csf2rb G A 15: 78,231,581 (GRCm39) G494D possibly damaging Het
Cstf3 G T 2: 104,420,926 (GRCm39) probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
Dcp2 T C 18: 44,529,071 (GRCm39) I62T probably benign Het
Dnaaf9 ATCCTCCTCCTCCTCCTCC ATCCTCCTCCTCCTCC 2: 130,612,655 (GRCm39) probably benign Het
Dpp8 T C 9: 64,988,133 (GRCm39) *893Q probably null Het
Dpyd A T 3: 119,108,534 (GRCm39) H859L probably benign Het
Dst T C 1: 34,323,501 (GRCm39) probably null Het
Dynlt2a2 A G 17: 15,190,717 (GRCm39) Y81H probably damaging Het
Egfr A G 11: 16,825,027 (GRCm39) I456V probably benign Het
Elf3 A G 1: 135,184,314 (GRCm39) F185L probably benign Het
Emx1 A G 6: 85,171,088 (GRCm39) T164A possibly damaging Het
Fras1 G A 5: 96,891,041 (GRCm39) V2857M probably damaging Het
Gba2 AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA AAA 4: 43,569,937 (GRCm39) probably null Het
Gda T A 19: 21,394,435 (GRCm39) T215S probably benign Het
Gm14443 C T 2: 175,013,640 (GRCm39) probably null Het
Gpr152 C T 19: 4,193,469 (GRCm39) P337S probably damaging Het
H2-T10 A G 17: 36,429,905 (GRCm39) I296T probably benign Het
Hoxd11 G A 2: 74,513,466 (GRCm39) E244K probably benign Het
Inka1 C A 9: 107,861,506 (GRCm39) S270I probably damaging Het
Kazn C T 4: 141,869,002 (GRCm39) D325N Het
Lama2 T C 10: 27,298,655 (GRCm39) N147S probably damaging Het
Lamc1 A T 1: 153,119,167 (GRCm39) N817K probably benign Het
Met T C 6: 17,533,956 (GRCm39) S636P probably damaging Het
Mrgpra3 A T 7: 47,251,051 (GRCm39) M1K probably null Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Or10ag2 C A 2: 87,248,995 (GRCm39) A201D probably damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Or8c13 T C 9: 38,091,505 (GRCm39) T205A probably benign Het
Pbx2 A G 17: 34,811,707 (GRCm39) I60M probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pla2g4a T C 1: 149,761,965 (GRCm39) N164S probably benign Het
Poln A G 5: 34,266,717 (GRCm39) M480T probably benign Het
Ppp2r2a T C 14: 67,261,177 (GRCm39) N181S probably damaging Het
Ppp3r2 A C 4: 49,681,705 (GRCm39) F82V probably damaging Het
Prox2 A G 12: 85,142,182 (GRCm39) V7A probably benign Het
Ptpn3 A T 4: 57,270,063 (GRCm39) I33K possibly damaging Het
Rad21l A T 2: 151,497,160 (GRCm39) M318K probably benign Het
Rftn1 A G 17: 50,309,665 (GRCm39) S445P possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Rtp4 C T 16: 23,431,998 (GRCm39) P177S possibly damaging Het
Saa4 T A 7: 46,379,052 (GRCm39) N96I possibly damaging Het
Shb A G 4: 45,489,079 (GRCm39) Y266H probably damaging Het
Slc45a4 T G 15: 73,461,405 (GRCm39) Y88S probably damaging Het
Tbccd1 A G 16: 22,641,564 (GRCm39) M312T probably damaging Het
Tecta C T 9: 42,299,121 (GRCm39) probably null Het
Tmem87a C T 2: 120,234,441 (GRCm39) G34D probably damaging Het
Trav13d-1 C A 14: 53,089,059 (GRCm39) Q23K probably benign Het
Txndc11 G T 16: 10,893,465 (GRCm39) T755N possibly damaging Het
Vmn1r223 A G 13: 23,434,339 (GRCm39) D311G probably damaging Het
Vmn2r66 T A 7: 84,643,932 (GRCm39) Y826F possibly damaging Het
Wdr90 A T 17: 26,064,399 (GRCm39) M1824K probably benign Het
Zfp523 G A 17: 28,421,562 (GRCm39) G440D 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
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
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'- ATCGTGTGTTCAAAGTGAGCTC -3'
(R):5'- TGATGCCCTCATTGGACCTG -3'

Sequencing Primer
(F):5'- GTGTGTTCAAAGTGAGCTCCAAACC -3'
(R):5'- CATTGGACCTGGGATTCCC -3'
Posted On 2020-07-28