Incidental Mutation 'R6443:Tcf7'
ID 519099
Institutional Source Beutler Lab
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
MMRRC Submission 044581-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.882) question?
Stock # R6443 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 52143198-52174158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 52144765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 286 (T286N)
Ref Sequence ENSEMBL: ENSMUSP00000104699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086844] [ENSMUST00000109071]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000086844
AA Change: T286N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084055
Gene: ENSMUSG00000000782
AA Change: T286N

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 benign
Transcript: ENSMUST00000109071
AA Change: T286N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104699
Gene: ENSMUSG00000000782
AA Change: T286N

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.9%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,309,357 (GRCm39) L27P probably damaging Het
Actr6 T C 10: 89,550,733 (GRCm39) N354D probably damaging Het
Apbb1 T A 7: 105,222,970 (GRCm39) N214Y probably damaging Het
Bcar1 A T 8: 112,441,970 (GRCm39) V290E probably damaging Het
Ces1f T A 8: 94,001,993 (GRCm39) Q45L probably benign Het
Ctss A C 3: 95,454,114 (GRCm39) K221T probably benign Het
Dclre1b T A 3: 103,710,504 (GRCm39) N469I possibly damaging Het
Dnah12 C A 14: 26,600,008 (GRCm39) Q3683K probably benign Het
Dnah8 A G 17: 30,990,859 (GRCm39) I3301V probably benign Het
Ephb4 G A 5: 137,358,711 (GRCm39) G298E probably damaging Het
Eya3 T C 4: 132,439,238 (GRCm39) F455L probably damaging Het
Fkbp5 G T 17: 28,648,253 (GRCm39) A112D probably damaging Het
Glud1 T C 14: 34,061,884 (GRCm39) M468T probably benign Het
Gm5114 C A 7: 39,057,141 (GRCm39) R826L possibly damaging Het
Gramd2b G A 18: 56,618,457 (GRCm39) V222I probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lpin2 T C 17: 71,548,663 (GRCm39) S576P probably benign Het
Lrrc1 A G 9: 77,341,314 (GRCm39) F415L probably damaging Het
Mtmr3 A T 11: 4,437,358 (GRCm39) I1032K probably damaging Het
Nr5a1 G A 2: 38,600,442 (GRCm39) T75M probably damaging Het
Nwd1 G A 8: 73,388,994 (GRCm39) V141I possibly damaging Het
Or1e1b-ps1 A T 11: 73,845,918 (GRCm39) Q134L probably benign Het
Or5ar1 T G 2: 85,671,979 (GRCm39) D52A probably damaging Het
Or6c214 C A 10: 129,591,277 (GRCm39) G14V probably damaging Het
Pla1a T C 16: 38,229,949 (GRCm39) probably null Het
Ppp1r36 A G 12: 76,464,413 (GRCm39) S4G probably benign Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Ryr1 A T 7: 28,776,503 (GRCm39) M2204K probably damaging Het
Ryr3 T C 2: 112,506,278 (GRCm39) N3428S possibly damaging Het
Slc6a4 A G 11: 76,914,027 (GRCm39) K526E probably benign Het
Slc9a8 G A 2: 167,276,741 (GRCm39) R78H probably benign Het
Sptbn1 T C 11: 30,089,429 (GRCm39) D611G possibly damaging Het
Sstr2 G A 11: 113,516,080 (GRCm39) probably null Het
Txndc5 A G 13: 38,712,179 (GRCm39) M69T possibly damaging Het
Usp48 T A 4: 137,341,074 (GRCm39) V358E probably damaging Het
Vmn2r1 T A 3: 64,012,374 (GRCm39) I745K possibly damaging Het
Zfp354b A G 11: 50,813,581 (GRCm39) I448T possibly damaging Het
Zfp523 A T 17: 28,420,381 (GRCm39) T189S probably damaging Het
Other mutations in Tcf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01673:Tcf7 APN 11 52,147,823 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGCGACCTGAGAATGTTGGTG -3'
(R):5'- TTCCCCTGGAAAACAAGCAG -3'

Sequencing Primer
(F):5'- AATGTTGGTGCTGGCTCCAC -3'
(R):5'- CCCGTGTAATTGCATTTGTCCTAGG -3'
Posted On 2018-05-24