Incidental Mutation 'R6898:Tcf21'
ID 538459
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 044992-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6898 (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 22695403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 134 (I134V)
Ref Sequence ENSEMBL: ENSMUSP00000151767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049930] [ENSMUST00000218002]
AlphaFold O35437
Predicted Effect probably benign
Transcript: ENSMUST00000049930
AA Change: I134V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000053178
Gene: ENSMUSG00000045680
AA Change: I134V

DomainStartEndE-ValueType
low complexity region 51 61 N/A INTRINSIC
HLH 85 137 3.3e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000218002
AA Change: I134V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.0728 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd7 G T 6: 18,868,100 (GRCm39) probably null Het
Aoc1l2 A T 6: 48,907,975 (GRCm39) Y325F probably damaging Het
Aplnr A T 2: 84,970,155 (GRCm39) probably benign Het
Capns2 T C 8: 93,628,605 (GRCm39) S165P probably damaging Het
Col25a1 T C 3: 130,378,377 (GRCm39) probably null Het
Crocc2 T C 1: 93,143,304 (GRCm39) V1302A probably benign Het
Cul9 C A 17: 46,821,952 (GRCm39) R1841M possibly damaging Het
Dnhd1 T C 7: 105,336,584 (GRCm39) L1213P probably damaging Het
Dscam A T 16: 96,631,100 (GRCm39) I305K probably benign Het
Dsp A G 13: 38,376,193 (GRCm39) E1326G possibly damaging Het
Eif4a3l1 T A 6: 136,305,617 (GRCm39) V26E probably benign Het
Emc9 A G 14: 55,822,367 (GRCm39) probably null Het
Eppk1 A C 15: 75,996,126 (GRCm39) S252A probably benign Het
Fn1 T A 1: 71,639,572 (GRCm39) T1830S probably damaging Het
Fryl A T 5: 73,179,485 (GRCm39) M2974K probably damaging Het
Gdpd3 C A 7: 126,370,201 (GRCm39) S250* probably null Het
Gnl3 A T 14: 30,735,136 (GRCm39) S485R probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hsd17b3 T C 13: 64,207,339 (GRCm39) Y234C probably benign Het
Lima1 T C 15: 99,679,148 (GRCm39) H271R possibly damaging Het
Nfu1 G A 6: 86,994,034 (GRCm39) probably null Het
Noto A G 6: 85,404,942 (GRCm39) E97G probably damaging Het
Ntng1 T C 3: 109,779,534 (GRCm39) K348E probably damaging Het
Or2y13 G A 11: 49,414,536 (GRCm39) probably benign Het
Or4a70 C T 2: 89,324,594 (GRCm39) G21R possibly damaging Het
Osmr C A 15: 6,845,364 (GRCm39) V801F probably damaging Het
Papln A G 12: 83,824,234 (GRCm39) E554G probably benign Het
Pitrm1 T C 13: 6,605,495 (GRCm39) L175P probably damaging Het
Pramel22 A T 4: 143,382,053 (GRCm39) N214K probably damaging Het
Pramel7 T C 2: 87,320,070 (GRCm39) T408A probably damaging Het
Serinc2 A T 4: 130,149,235 (GRCm39) D322E probably benign Het
Setx T C 2: 29,038,120 (GRCm39) V1535A probably benign Het
Sgce A T 6: 4,689,666 (GRCm39) V389E probably damaging Het
Snx11 G A 11: 96,659,888 (GRCm39) T267I probably benign Het
Spata6l T G 19: 28,921,688 (GRCm39) Q146P probably benign Het
Specc1 G A 11: 62,009,162 (GRCm39) S306N probably benign Het
Spocd1 A G 4: 129,850,305 (GRCm39) probably benign Het
St7 T A 6: 17,854,945 (GRCm39) V294D probably damaging Het
Stab1 C T 14: 30,880,920 (GRCm39) R624Q probably benign Het
Tgfb2 T A 1: 186,364,697 (GRCm39) I266F probably damaging Het
Tgfbr3l A G 8: 4,300,365 (GRCm39) I209M possibly damaging Het
Tmcc3 A G 10: 94,387,034 (GRCm39) probably null Het
Toe1 A G 4: 116,664,671 (GRCm39) S16P probably damaging Het
Vps16 T C 2: 130,279,601 (GRCm39) V38A possibly damaging Het
Wnk2 G T 13: 49,224,557 (GRCm39) D1001E probably damaging 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
R7851:Tcf21 UTSW 10 22,695,747 (GRCm39) missense probably benign
R7966:Tcf21 UTSW 10 22,695,706 (GRCm39) missense probably benign 0.00
R8061:Tcf21 UTSW 10 22,695,762 (GRCm39) missense probably benign 0.22
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'- TAGCACAAATCACTCGCGG -3'
(R):5'- AGAACGGGTCTCCACAGAAG -3'

Sequencing Primer
(F):5'- AAATCACTCGCGGGCTCG -3'
(R):5'- TCTCCACAGAAGGGTCGC -3'
Posted On 2018-11-06