Incidental Mutation 'R2887:Tcf7l1'
ID 261079
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 040475-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2887 (G1)
Quality Score 110
Status Not validated
Chromosome 6
Chromosomal Location 72603354-72766028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72609071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 297 (S297L)
Ref Sequence ENSEMBL: ENSMUSP00000109687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069536] [ENSMUST00000114053] [ENSMUST00000149446]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069536
AA Change: S283L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069403
Gene: ENSMUSG00000055799
AA Change: S283L

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 noncoding transcript
Transcript: ENSMUST00000081929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101278
Predicted Effect probably damaging
Transcript: ENSMUST00000114053
AA Change: S297L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109687
Gene: ENSMUSG00000055799
AA Change: S297L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141743
Predicted Effect probably benign
Transcript: ENSMUST00000149446
SMART Domains Protein: ENSMUSP00000115060
Gene: ENSMUSG00000055799

DomainStartEndE-ValueType
Pfam:CTNNB1_binding 1 70 9e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195777
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,395 (GRCm39) S65P probably damaging Het
Adamts20 C T 15: 94,228,459 (GRCm39) R996H probably benign Het
Aurka A G 2: 172,209,040 (GRCm39) S54P probably benign Het
Clec7a C T 6: 129,447,960 (GRCm39) G35E probably damaging Het
Clock G A 5: 76,393,120 (GRCm39) R239C probably damaging Het
Eefsec T C 6: 88,235,341 (GRCm39) T214A probably benign Het
Emg1 T C 6: 124,682,026 (GRCm39) H166R probably damaging Het
Fibin T A 2: 110,193,122 (GRCm39) I7F probably benign Het
Golm1 G T 13: 59,788,044 (GRCm39) T285K probably benign Het
Ivl C A 3: 92,478,699 (GRCm39) R455S unknown Het
Lama4 A C 10: 38,968,250 (GRCm39) Q1464P possibly damaging Het
Lamp1 T A 8: 13,223,891 (GRCm39) L341H probably damaging Het
Or13a28 A T 7: 140,218,138 (GRCm39) I175F probably damaging Het
Ppp1r3a T G 6: 14,718,248 (GRCm39) S889R possibly damaging Het
Ptprc A G 1: 138,007,916 (GRCm39) V711A probably damaging Het
Rimklb T C 6: 122,449,657 (GRCm39) T6A probably benign Het
Serpina3c T C 12: 104,113,549 (GRCm39) H399R probably benign Het
Slc35a5 A G 16: 44,971,923 (GRCm39) C114R probably damaging Het
Slc7a13 A G 4: 19,819,052 (GRCm39) Y84C possibly damaging Het
Vmn2r98 G T 17: 19,301,439 (GRCm39) A814S possibly damaging Het
Zfp14 G T 7: 29,738,190 (GRCm39) T265K probably damaging 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
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
R8206:Tcf7l1 UTSW 6 72,604,395 (GRCm39) missense probably damaging 1.00
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'- CTGAGCAGAGAGTGGATCAC -3'
(R):5'- ATTTCTCACAGGGGTGGCTC -3'

Sequencing Primer
(F):5'- GTGGATCACACCCCTCCC -3'
(R):5'- TCTACCTGACAGTGGGAGCAC -3'
Posted On 2015-01-23