Incidental Mutation 'IGL01673:Tcf7'
ID 103555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcf7
Ensembl Gene ENSMUSG00000000782
Gene Name transcription factor 7, T cell specific
Synonyms TCF-1, T cell factor-1, T-cell factor 1, Tcf1
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # IGL01673
Quality Score
Status
Chromosome 11
Chromosomal Location 52143198-52174158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52147823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 210 (C210R)
Ref Sequence ENSEMBL: ENSMUSP00000104699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086844] [ENSMUST00000109071]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000086844
AA Change: C210R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084055
Gene: ENSMUSG00000000782
AA Change: C210R

DomainStartEndE-ValueType
Pfam:CTNNB1_binding 1 100 2.2e-23 PFAM
low complexity region 119 130 N/A INTRINSIC
low complexity region 142 157 N/A INTRINSIC
HMG 187 257 2.86e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109071
AA Change: C210R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104699
Gene: ENSMUSG00000000782
AA Change: C210R

DomainStartEndE-ValueType
Pfam:CTNNB1_binding 1 100 5.3e-23 PFAM
low complexity region 119 130 N/A INTRINSIC
low complexity region 142 157 N/A INTRINSIC
HMG 187 257 2.86e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transcription factor which is a member of the T-cell specific transcription factor family. The encoded protein is distinct from the hepatic transcription factor, transcription factor 1, which is also referred to by the symbol Tcf1. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice have defects in T cell development leading to decreased numbers of T cells in the periphery. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cpz A T 5: 35,669,891 (GRCm39) V262E probably benign Het
Cyp4f14 A G 17: 33,130,125 (GRCm39) probably null Het
Ddx46 G T 13: 55,800,861 (GRCm39) V339F probably damaging Het
Gpn1 T G 5: 31,652,179 (GRCm39) C21W probably damaging Het
Gpr63 A T 4: 25,008,014 (GRCm39) Q246L probably benign Het
Hsp90b1 T A 10: 86,529,296 (GRCm39) M658L probably damaging Het
Immp2l T C 12: 41,118,320 (GRCm39) S4P probably benign Het
Krtap9-5 A T 11: 99,840,377 (GRCm39) *359C probably null Het
Lgals7 A G 7: 28,565,621 (GRCm39) probably benign Het
Mak G T 13: 41,201,699 (GRCm39) probably null Het
Mrps18c A G 5: 100,946,672 (GRCm39) R13G possibly damaging Het
Myo7a A G 7: 97,703,915 (GRCm39) V1946A probably benign Het
Nfyc T C 4: 120,636,307 (GRCm39) probably benign Het
Nkx2-4 C T 2: 146,925,834 (GRCm39) V343M possibly damaging Het
Or5be3 T C 2: 86,863,731 (GRCm39) Y278C probably damaging Het
Or8d2 T C 9: 38,760,316 (GRCm39) V302A probably benign Het
Rapgef4 G T 2: 72,071,781 (GRCm39) S743I probably damaging Het
Ubqln3 T A 7: 103,791,605 (GRCm39) I162F probably benign Het
Vmn1r216 A G 13: 23,283,641 (GRCm39) Q108R probably damaging Het
Vmn1r74 A T 7: 11,581,317 (GRCm39) I206F possibly damaging Het
Wdr64 T C 1: 175,627,922 (GRCm39) I872T possibly damaging Het
Other mutations in Tcf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Tcf7 APN 11 52,144,797 (GRCm39) splice site probably benign
R1854:Tcf7 UTSW 11 52,147,891 (GRCm39) missense probably benign 0.00
R2937:Tcf7 UTSW 11 52,173,610 (GRCm39) splice site probably null
R2938:Tcf7 UTSW 11 52,173,610 (GRCm39) splice site probably null
R3911:Tcf7 UTSW 11 52,173,793 (GRCm39) start gained probably benign
R4433:Tcf7 UTSW 11 52,152,442 (GRCm39) missense probably benign
R5796:Tcf7 UTSW 11 52,152,354 (GRCm39) missense probably benign 0.31
R6443:Tcf7 UTSW 11 52,144,765 (GRCm39) missense probably benign 0.00
R8798:Tcf7 UTSW 11 52,151,421 (GRCm39) missense probably damaging 0.96
R9785:Tcf7 UTSW 11 52,173,773 (GRCm39) start gained probably benign
R9787:Tcf7 UTSW 11 52,173,773 (GRCm39) start gained probably benign
Posted On 2014-01-21