Incidental Mutation 'R0121:Tcf21'
ID 21044
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 038406-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0121 (G1)
Quality Score 197
Status Validated (trace)
Chromosome 10
Chromosomal Location 22693162-22696042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22695706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 33 (T33A)
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: T33A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053178
Gene: ENSMUSG00000045680
AA Change: T33A

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: T33A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220000
Meta Mutation Damage Score 0.0728 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.8%
Validation Efficiency 100% (63/63)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,298,945 (GRCm39) probably null Het
Adgra3 T C 5: 50,183,128 (GRCm39) probably benign Het
Anxa7 A T 14: 20,510,227 (GRCm39) L386M probably damaging Het
Ap2b1 A G 11: 83,212,793 (GRCm39) M58V possibly damaging Het
Arfip2 A G 7: 105,285,578 (GRCm39) L224P probably damaging Het
Arhgap20 A G 9: 51,750,251 (GRCm39) N373S possibly damaging Het
Asph T C 4: 9,635,918 (GRCm39) D73G probably damaging Het
Atp1a2 T A 1: 172,116,909 (GRCm39) E236V probably damaging Het
Atp2a1 A G 7: 126,057,116 (GRCm39) S170P probably damaging Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
B4galnt3 C T 6: 120,191,999 (GRCm39) R578H probably benign Het
Ccdc178 C A 18: 21,978,081 (GRCm39) probably null Het
Ccnh T A 13: 85,354,312 (GRCm39) M252K probably damaging Het
Clec4b2 A G 6: 123,181,131 (GRCm39) D172G probably benign Het
Col1a1 A G 11: 94,828,895 (GRCm39) E79G unknown Het
Csf3r A G 4: 125,923,642 (GRCm39) N51D probably benign Het
Cul7 C T 17: 46,974,299 (GRCm39) L1489F probably damaging Het
Cyp2b13 G A 7: 25,786,010 (GRCm39) C309Y probably benign Het
Dync2h1 A T 9: 7,001,327 (GRCm39) probably benign Het
Edn1 A G 13: 42,458,741 (GRCm39) T135A probably benign Het
Ephb2 A G 4: 136,498,368 (GRCm39) I237T probably damaging Het
Fam111a T A 19: 12,561,444 (GRCm39) F12L probably benign Het
Foxi2 C A 7: 135,013,640 (GRCm39) A290E probably benign Het
Gabra6 A G 11: 42,205,798 (GRCm39) S353P probably benign Het
Gm4847 T C 1: 166,469,857 (GRCm39) D72G probably damaging Het
Grhl3 A G 4: 135,279,860 (GRCm39) I398T probably damaging Het
Gtdc1 T C 2: 44,455,550 (GRCm39) probably benign Het
Kel A C 6: 41,678,998 (GRCm39) probably benign Het
L3mbtl3 C T 10: 26,189,768 (GRCm39) D499N unknown Het
Lama1 T A 17: 68,105,508 (GRCm39) probably benign Het
Mamdc2 T A 19: 23,288,223 (GRCm39) E605V probably benign Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Nudt12 A T 17: 59,314,634 (GRCm39) S317T possibly damaging Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or4k35 A T 2: 111,100,659 (GRCm39) C18S probably benign Het
Or5w20 A G 2: 87,727,434 (GRCm39) K297R possibly damaging Het
Or8g23 T A 9: 38,971,056 (GRCm39) K302M probably damaging Het
Or8k38 A G 2: 86,488,163 (GRCm39) V213A probably benign Het
Pbld1 C T 10: 62,907,282 (GRCm39) probably benign Het
Prl8a9 T G 13: 27,744,589 (GRCm39) N84T probably benign Het
Psph T A 5: 129,868,633 (GRCm39) probably benign Het
Sbf2 A G 7: 110,088,426 (GRCm39) probably null Het
Senp6 A G 9: 80,023,952 (GRCm39) D405G probably benign Het
Serpinb1a T A 13: 33,032,754 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,556,086 (GRCm39) I287V probably benign Het
Sptbn2 T C 19: 4,795,321 (GRCm39) F1593S probably damaging Het
Tdrd3 A T 14: 87,776,915 (GRCm39) Q727L probably damaging Het
Tecpr1 C T 5: 144,147,017 (GRCm39) E450K probably benign Het
Tenm3 G A 8: 48,795,694 (GRCm39) T532I probably damaging Het
Tg A T 15: 66,612,630 (GRCm39) Q396L probably benign Het
Tmtc3 A G 10: 100,294,770 (GRCm39) probably benign Het
Twnk T C 19: 44,997,704 (GRCm39) probably benign Het
Ubac1 A G 2: 25,898,871 (GRCm39) probably null Het
Ubn2 T C 6: 38,429,793 (GRCm39) probably benign Het
Zfp944 T A 17: 22,558,249 (GRCm39) T333S possibly damaging Het
Other mutations in Tcf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02071:Tcf21 APN 10 22,693,709 (GRCm39) missense possibly damaging 0.82
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
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'- ATTTAACGAGTCACGCTCTCGCCC -3'
(R):5'- GGCAGCTCCAAACTTTTGAGACCC -3'

Sequencing Primer
(F):5'- CAGGATCTGCCTTAAGTGAGC -3'
(R):5'- AAACTTTTGAGACCCTTTCGTTTCC -3'
Posted On 2013-04-11