Incidental Mutation 'R4433:Tcf7'
ID 328710
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 041147-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # R4433 (G1)
Quality Score 213
Status Validated
Chromosome 11
Chromosomal Location 52143198-52174158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 52152442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 36 (P36T)
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: P36T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084055
Gene: ENSMUSG00000000782
AA Change: P36T

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: P36T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104699
Gene: ENSMUSG00000000782
AA Change: P36T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,186,937 (GRCm39) probably null Het
Acsm2 A G 7: 119,153,732 (GRCm39) H14R unknown Het
Adamtsl4 T C 3: 95,589,069 (GRCm39) probably null Het
Ak5 A G 3: 152,361,517 (GRCm39) I135T probably damaging Het
Alk G T 17: 72,206,236 (GRCm39) S1038* probably null Het
Ank2 A T 3: 126,741,455 (GRCm39) probably benign Het
Ap2m1 A T 16: 20,362,134 (GRCm39) H414L possibly damaging Het
Atp13a5 A T 16: 29,100,842 (GRCm39) M649K probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Calhm6 T A 10: 34,003,827 (GRCm39) T27S probably damaging Het
Cdc25b A G 2: 131,033,618 (GRCm39) S186G probably benign Het
Ceacam16 A G 7: 19,587,514 (GRCm39) V418A possibly damaging Het
Cntnap3 A C 13: 64,926,667 (GRCm39) S568A possibly damaging Het
Col24a1 G T 3: 145,020,144 (GRCm39) V172F possibly damaging Het
Dynlt4 C T 4: 116,985,320 (GRCm39) R48C probably damaging Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Esp36 T A 17: 38,729,847 (GRCm39) T15S unknown Het
Fat2 A T 11: 55,200,466 (GRCm39) H869Q possibly damaging Het
Fat3 A G 9: 15,942,448 (GRCm39) V1308A probably damaging Het
Gimap3 T C 6: 48,742,880 (GRCm39) T17A possibly damaging Het
Hnrnpr A G 4: 136,044,459 (GRCm39) K13R probably benign Het
Hycc1 A C 5: 24,184,579 (GRCm39) C218G possibly damaging Het
Kdr A G 5: 76,104,585 (GRCm39) M1133T possibly damaging Het
Mgarp A G 3: 51,303,681 (GRCm39) probably benign Het
Neto2 G A 8: 86,367,712 (GRCm39) T337I probably damaging Het
Nfib C T 4: 82,416,672 (GRCm39) R137Q probably damaging Het
Nherf4 T C 9: 44,159,285 (GRCm39) *499W probably null Het
Nr3c2 A G 8: 77,944,096 (GRCm39) E890G probably damaging Het
Nsun4 A G 4: 115,897,327 (GRCm39) V228A possibly damaging Het
Nt5c1a T A 4: 123,109,689 (GRCm39) S263T probably benign Het
Ntm A T 9: 28,923,516 (GRCm39) Y45* probably null Het
Nts A G 10: 102,320,888 (GRCm39) V67A probably benign Het
Or1e19 A T 11: 73,316,537 (GRCm39) S91T possibly damaging Het
Or1e25 A G 11: 73,493,712 (GRCm39) Y102C probably damaging Het
Or4g7 T A 2: 111,309,757 (GRCm39) C209* probably null Het
Or51ag1 T A 7: 103,155,346 (GRCm39) K269M probably benign Het
Ostm1 C A 10: 42,555,119 (GRCm39) A47E probably benign Het
Otol1 G A 3: 69,925,881 (GRCm39) V19M probably benign Het
Pcdhb15 A G 18: 37,608,565 (GRCm39) N599S probably damaging Het
Pcdhgb1 T C 18: 37,814,304 (GRCm39) I265T probably damaging Het
Pex14 T C 4: 149,045,967 (GRCm39) E321G possibly damaging Het
Phactr3 C A 2: 177,924,925 (GRCm39) R251S probably damaging Het
Pkdcc C T 17: 83,528,570 (GRCm39) T313M probably benign Het
Plce1 A T 19: 38,755,745 (GRCm39) E1911V probably damaging Het
Ptprv G T 1: 135,042,308 (GRCm39) noncoding transcript Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rhob A G 12: 8,549,533 (GRCm39) Y34H possibly damaging Het
Slc27a3 G A 3: 90,294,647 (GRCm39) T408M probably damaging Het
Slc9c1 A T 16: 45,419,829 (GRCm39) I1000F possibly damaging Het
Tcf7l1 C G 6: 72,765,752 (GRCm39) E62Q probably damaging Het
Tll2 A G 19: 41,109,787 (GRCm39) S326P probably benign Het
Tubgcp4 A G 2: 121,014,954 (GRCm39) N288S probably benign Het
Zfhx3 G A 8: 109,682,269 (GRCm39) R3236H unknown Het
Zfp764l1 T G 7: 126,992,174 (GRCm39) Q87P possibly damaging Het
Zgrf1 A G 3: 127,355,727 (GRCm39) T318A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GTTATAAAATGCAGGCCAGCC -3'
(R):5'- AATCTGCAAGATTGGGAGGC -3'

Sequencing Primer
(F):5'- AATGCAGGCCAGCCTATGTG -3'
(R):5'- CAGGAAAACAGTGCCACAGGAC -3'
Posted On 2015-07-21