Incidental Mutation 'IGL02071:Tcf21'
ID 283342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcf21
Ensembl Gene ENSMUSG00000045680
Gene Name transcription factor 21
Synonyms bHLHa23, podocyte-expressed 1, epicardin, Pod-1, epc, capsulin, Pod1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02071
Quality Score
Status
Chromosome 10
Chromosomal Location 22693162-22696042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22693709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 156 (V156E)
Ref Sequence ENSEMBL: ENSMUSP00000053178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049930] [ENSMUST00000218002]
AlphaFold O35437
Predicted Effect possibly damaging
Transcript: ENSMUST00000049930
AA Change: V156E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000053178
Gene: ENSMUSG00000045680
AA Change: V156E

DomainStartEndE-ValueType
low complexity region 51 61 N/A INTRINSIC
HLH 85 137 3.3e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000218002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220000
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,400,676 (GRCm39) R92C probably damaging Het
Adam29 C A 8: 56,324,589 (GRCm39) V622L possibly damaging Het
Bzw2 T C 12: 36,157,502 (GRCm39) H321R probably benign Het
C2cd2 C T 16: 97,671,432 (GRCm39) R489Q probably damaging Het
Cdh23 G A 10: 60,359,339 (GRCm39) T253I possibly damaging Het
Col4a3 T G 1: 82,638,608 (GRCm39) probably null Het
D630039A03Rik T C 4: 57,910,309 (GRCm39) T168A possibly damaging Het
Dnajc19 A G 3: 34,132,914 (GRCm39) L97P possibly damaging Het
Dpep2 A T 8: 106,711,776 (GRCm39) H550Q probably benign Het
Dvl2 C A 11: 69,895,626 (GRCm39) probably null Het
Fam234b A G 6: 135,204,149 (GRCm39) probably null Het
Fxyd5 A G 7: 30,739,613 (GRCm39) V32A possibly damaging Het
Itprid1 C A 6: 55,944,710 (GRCm39) S477* probably null Het
Mak16 A T 8: 31,650,557 (GRCm39) S251T probably benign Het
Med10 T C 13: 69,963,747 (GRCm39) V116A probably benign Het
Mycbp2 G A 14: 103,392,343 (GRCm39) R50* probably null Het
Nckap5 G A 1: 125,909,305 (GRCm39) P272L probably damaging Het
Nf1 T A 11: 79,334,947 (GRCm39) V933E possibly damaging Het
Nrxn2 T A 19: 6,531,783 (GRCm39) V749E probably damaging Het
Or51e2 A C 7: 102,391,355 (GRCm39) V285G probably damaging Het
Or5al1 C A 2: 85,990,219 (GRCm39) R165L probably benign Het
Osbpl9 T C 4: 108,929,176 (GRCm39) Y417C probably damaging Het
Otop1 G A 5: 38,445,327 (GRCm39) A162T probably damaging Het
Patl1 C A 19: 11,917,054 (GRCm39) P634T probably damaging Het
Ppl A T 16: 4,930,936 (GRCm39) S28T probably benign Het
Prkar2b C T 12: 32,013,016 (GRCm39) G367R probably damaging Het
Rbl2 G A 8: 91,828,826 (GRCm39) V576I probably damaging Het
Rgl3 C T 9: 21,899,559 (GRCm39) A53T probably benign Het
Rp1 T A 1: 4,415,533 (GRCm39) I1860F possibly damaging Het
Sbno2 A T 10: 79,896,475 (GRCm39) D877E probably damaging Het
Sectm1b C T 11: 120,946,761 (GRCm39) V45I probably damaging Het
Sfmbt2 G A 2: 10,582,763 (GRCm39) V741I probably benign Het
Sugt1 T A 14: 79,847,723 (GRCm39) L191* probably null Het
Tep1 T A 14: 51,071,506 (GRCm39) R2046S possibly damaging Het
Tmem181a T C 17: 6,347,531 (GRCm39) F241S probably damaging Het
Traf6 G A 2: 101,527,138 (GRCm39) C296Y probably benign Het
Trim40 A G 17: 37,200,070 (GRCm39) S3P probably benign Het
Ttll2 A T 17: 7,619,130 (GRCm39) Y266N probably damaging Het
Vps54 A G 11: 21,225,071 (GRCm39) N177S probably null Het
Other mutations in Tcf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16