Incidental Mutation 'R8206:Tcf7l1'
ID 635910
Institutional Source Beutler Lab
Gene Symbol Tcf7l1
Ensembl Gene ENSMUSG00000055799
Gene Name transcription factor 7 like 1 (T cell specific, HMG box)
Synonyms Tcf3
MMRRC Submission 067629-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8206 (G1)
Quality Score 212.009
Status Validated
Chromosome 6
Chromosomal Location 72603354-72766028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72604395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 583 (L583P)
Ref Sequence ENSEMBL: ENSMUSP00000109687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069536] [ENSMUST00000114053]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069536
AA Change: L569P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069403
Gene: ENSMUSG00000055799
AA Change: L569P

DomainStartEndE-ValueType
Pfam:CTNNB1_binding 1 248 1.3e-77 PFAM
HMG 342 412 3.47e-21 SMART
low complexity region 418 426 N/A INTRINSIC
low complexity region 427 438 N/A INTRINSIC
low complexity region 475 494 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
low complexity region 536 545 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114053
AA Change: L583P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109687
Gene: ENSMUSG00000055799
AA Change: L583P

DomainStartEndE-ValueType
Pfam:CTNNB1_binding 1 262 6.9e-91 PFAM
HMG 356 426 3.47e-21 SMART
low complexity region 432 440 N/A INTRINSIC
low complexity region 441 452 N/A INTRINSIC
low complexity region 489 508 N/A INTRINSIC
low complexity region 524 544 N/A INTRINSIC
low complexity region 550 559 N/A INTRINSIC
Meta Mutation Damage Score 0.2650 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]
PHENOTYPE: Animals homozygous for a targeted mutation exhibit severe embryological defects particularly affecting the cardiovascular system, nervous system, and digestive system. No homozygous embryos survive beyond E11. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null Het
Other mutations in Tcf7l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02517:Tcf7l1 APN 6 72,606,966 (GRCm39) missense probably benign 0.00
IGL03167:Tcf7l1 APN 6 72,609,979 (GRCm39) missense possibly damaging 0.75
R0731:Tcf7l1 UTSW 6 72,765,252 (GRCm39) missense possibly damaging 0.83
R2679:Tcf7l1 UTSW 6 72,604,403 (GRCm39) missense probably benign 0.43
R2887:Tcf7l1 UTSW 6 72,609,071 (GRCm39) missense probably damaging 1.00
R4015:Tcf7l1 UTSW 6 72,613,382 (GRCm39) intron probably benign
R4433:Tcf7l1 UTSW 6 72,765,752 (GRCm39) missense probably damaging 0.96
R4671:Tcf7l1 UTSW 6 72,626,161 (GRCm39) missense probably damaging 0.99
R5262:Tcf7l1 UTSW 6 72,613,449 (GRCm39) intron probably benign
R5891:Tcf7l1 UTSW 6 72,614,034 (GRCm39) intron probably benign
R6767:Tcf7l1 UTSW 6 72,608,275 (GRCm39) missense probably damaging 0.98
R7255:Tcf7l1 UTSW 6 72,604,330 (GRCm39) splice site probably null
R8996:Tcf7l1 UTSW 6 72,765,563 (GRCm39) missense possibly damaging 0.69
R9069:Tcf7l1 UTSW 6 72,610,259 (GRCm39) missense probably damaging 1.00
R9193:Tcf7l1 UTSW 6 72,611,205 (GRCm39) missense probably damaging 0.98
R9439:Tcf7l1 UTSW 6 72,765,740 (GRCm39) missense probably damaging 0.99
R9530:Tcf7l1 UTSW 6 72,604,687 (GRCm39) missense probably benign 0.02
R9778:Tcf7l1 UTSW 6 72,608,226 (GRCm39) missense probably damaging 1.00
X0027:Tcf7l1 UTSW 6 72,765,722 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACAGAACAGTCCAGAGTGGTC -3'
(R):5'- TGTGATAGCCCTGCGTCTTC -3'

Sequencing Primer
(F):5'- CAGTCCAGAGTGGTCAAATATTG -3'
(R):5'- TGCGTCTTCCCATGGCAG -3'
Posted On 2020-07-13