Incidental Mutation 'R8061:Tcf21'
ID 619718
Institutional Source Beutler Lab
Gene Symbol Tcf21
Ensembl Gene ENSMUSG00000045680
Gene Name transcription factor 21
Synonyms bHLHa23, podocyte-expressed 1, epicardin, Pod-1, epc, capsulin, Pod1
MMRRC Submission 067497-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8061 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 22693162-22696042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22695762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 14 (E14G)
Ref Sequence ENSEMBL: ENSMUSP00000053178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049930] [ENSMUST00000218002]
AlphaFold O35437
Predicted Effect probably benign
Transcript: ENSMUST00000049930
AA Change: E14G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000053178
Gene: ENSMUSG00000045680
AA Change: E14G

DomainStartEndE-ValueType
low complexity region 51 61 N/A INTRINSIC
HLH 85 137 3.3e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000218002
AA Change: E14G

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit hypoplastic lungs and kidneys with abnormal vasculature of these organs and the hemopericardium, and die at birth due to respiratory failure. Homozygotes for some mutations are also asplenic. Some alleles cause sex reversal in XY mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads G A 5: 115,255,710 (GRCm39) R42C probably benign Het
Agrn G A 4: 156,263,411 (GRCm39) R338C probably damaging Het
Anapc1 T C 2: 128,490,408 (GRCm39) E1008G probably damaging Het
Art5 A T 7: 101,747,456 (GRCm39) Y108N possibly damaging Het
As3mt G A 19: 46,728,982 (GRCm39) C369Y probably damaging Het
Asb3 A G 11: 30,948,447 (GRCm39) N41S probably damaging Het
Astn1 G A 1: 158,331,920 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,300 (GRCm39) M1770K possibly damaging Het
Atp8b2 T C 3: 89,853,527 (GRCm39) probably benign Het
Cfap300 A G 9: 8,042,672 (GRCm39) W37R probably damaging Het
Chrm1 T C 19: 8,656,518 (GRCm39) Y408H possibly damaging Het
Chst2 T C 9: 95,287,224 (GRCm39) H374R probably damaging Het
Cnot1 A G 8: 96,491,655 (GRCm39) F390L possibly damaging Het
Comt T C 16: 18,230,040 (GRCm39) Y100C probably benign Het
Cyria G T 12: 12,412,028 (GRCm39) A150S possibly damaging Het
Dclk2 T C 3: 86,720,981 (GRCm39) probably benign Het
Dicer1 G A 12: 104,669,077 (GRCm39) Q1202* probably null Het
Disp1 C T 1: 182,869,151 (GRCm39) V1090M probably damaging Het
Dnajc28 T C 16: 91,414,058 (GRCm39) D62G possibly damaging Het
Dock1 C T 7: 134,374,052 (GRCm39) T566I probably benign Het
Dop1a T G 9: 86,403,246 (GRCm39) M18R possibly damaging Het
Dop1b T C 16: 93,546,884 (GRCm39) L296P probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Efcab3 A T 11: 104,997,275 (GRCm39) D155V probably benign Het
Ehmt2 T C 17: 35,124,903 (GRCm39) S465P possibly damaging Het
Eno1b G A 18: 48,180,725 (GRCm39) W301* probably null Het
Fpgt A G 3: 154,792,903 (GRCm39) S375P probably benign Het
Gas2l1 G A 11: 5,011,785 (GRCm39) S348F possibly damaging Het
Gen1 A T 12: 11,311,077 (GRCm39) probably benign Het
Ice1 A T 13: 70,751,851 (GRCm39) C1412S probably damaging Het
Iqcn A G 8: 71,161,224 (GRCm39) E139G probably benign Het
Klhl2 A C 8: 65,211,257 (GRCm39) L264V probably damaging Het
Lars2 A G 9: 123,288,562 (GRCm39) T803A probably benign Het
Ldb2 T A 5: 44,637,612 (GRCm39) K232M probably damaging Het
Lix1 G A 17: 17,663,938 (GRCm39) R92Q probably damaging Het
Meig1 C T 2: 3,410,240 (GRCm39) V87I not run Het
Mitf A C 6: 97,970,259 (GRCm39) S176R probably damaging Het
Myh7 A G 14: 55,228,398 (GRCm39) V236A probably benign Het
Myo5a T A 9: 75,030,239 (GRCm39) Y119* probably null Het
Ncapg2 A G 12: 116,390,197 (GRCm39) N382S probably benign Het
Neu2 C T 1: 87,524,633 (GRCm39) P206L probably damaging Het
Or2h2b-ps1 A G 17: 37,480,792 (GRCm39) F147S probably damaging Het
Osbpl5 C T 7: 143,256,461 (GRCm39) R454Q probably benign Het
Panx1 A G 9: 14,956,297 (GRCm39) S13P possibly damaging Het
Pde2a A G 7: 101,153,179 (GRCm39) D413G probably benign Het
Plcb1 A T 2: 135,188,316 (GRCm39) Y803F probably benign Het
Prrc2a T C 17: 35,380,162 (GRCm39) probably benign Het
Pth2r T A 1: 65,382,660 (GRCm39) Y143N possibly damaging Het
Ptpn4 C T 1: 119,619,330 (GRCm39) probably null Het
Rapgef3 T C 15: 97,659,401 (GRCm39) Y112C probably benign Het
Rusc2 A G 4: 43,422,492 (GRCm39) N907S probably damaging Het
Scn7a T A 2: 66,522,938 (GRCm39) N922I probably damaging Het
Shprh T C 10: 11,088,077 (GRCm39) V1620A possibly damaging Het
Slc25a54 T A 3: 109,018,361 (GRCm39) S280R probably damaging Het
Slc30a5 T C 13: 100,965,419 (GRCm39) I63M probably damaging Het
Smg1 A T 7: 117,751,610 (GRCm39) V2817E unknown Het
Sprr3 T C 3: 92,364,184 (GRCm39) E220G probably damaging Het
Tenm4 A G 7: 96,501,663 (GRCm39) D1289G probably damaging Het
Tmem121b C A 6: 120,469,064 (GRCm39) G551V probably damaging Het
Tpk1 A G 6: 43,323,778 (GRCm39) S224P probably damaging Het
Trib1 T C 15: 59,523,404 (GRCm39) I146T probably damaging Het
Ttc32 T A 12: 9,084,953 (GRCm39) Y58N probably damaging Het
Vcan T A 13: 89,805,409 (GRCm39) I3336L probably benign Het
Vmn1r200 C A 13: 22,579,453 (GRCm39) Y85* probably null Het
Vps39 T C 2: 120,174,692 (GRCm39) I97V probably benign Het
Zan T A 5: 137,434,893 (GRCm39) I2167F unknown Het
Zfp37 A T 4: 62,109,665 (GRCm39) Y507* probably null Het
Zfp39 A G 11: 58,793,573 (GRCm39) V55A probably benign Het
Zfp616 A T 11: 73,974,340 (GRCm39) N294I possibly damaging Het
Zfp729a T C 13: 67,768,208 (GRCm39) T674A probably benign Het
Other mutations in Tcf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02071:Tcf21 APN 10 22,693,709 (GRCm39) missense possibly damaging 0.82
R0121:Tcf21 UTSW 10 22,695,706 (GRCm39) missense probably benign 0.00
R0972:Tcf21 UTSW 10 22,695,621 (GRCm39) missense probably benign 0.10
R1276:Tcf21 UTSW 10 22,695,489 (GRCm39) missense probably damaging 1.00
R5109:Tcf21 UTSW 10 22,695,558 (GRCm39) missense probably damaging 0.98
R6125:Tcf21 UTSW 10 22,695,665 (GRCm39) missense probably benign
R6898:Tcf21 UTSW 10 22,695,403 (GRCm39) missense probably benign 0.05
R7851:Tcf21 UTSW 10 22,695,747 (GRCm39) missense probably benign
R7966:Tcf21 UTSW 10 22,695,706 (GRCm39) missense probably benign 0.00
R9009:Tcf21 UTSW 10 22,693,671 (GRCm39) missense probably benign
R9744:Tcf21 UTSW 10 22,695,726 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TGGTCTTGAGCCTGGAGAAG -3'
(R):5'- CACGACTCTGTAAAGGGAAAGC -3'

Sequencing Primer
(F):5'- AGAAGGCCTTGCTCAGCAC -3'
(R):5'- CTCTGTAAAGGGAAAGCTGGGG -3'
Posted On 2020-01-23