Incidental Mutation 'R6125:Tcf21'
ID 487349
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 044272-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6125 (G1)
Quality Score 150.008
Status Validated
Chromosome 10
Chromosomal Location 22693162-22696042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 22695665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 46 (N46K)
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: N46K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053178
Gene: ENSMUSG00000045680
AA Change: N46K

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: N46K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220000
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 97% (65/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef11 T C 3: 87,636,909 (GRCm39) F1023S probably damaging Het
Atp1a1 G A 3: 101,498,023 (GRCm39) R255C probably damaging Het
Bbs12 A G 3: 37,374,700 (GRCm39) I383V probably benign Het
Cacna1h G A 17: 25,604,668 (GRCm39) P1215L probably benign Het
Calm5 A T 13: 3,904,491 (GRCm39) K62* probably null Het
Chd8 T A 14: 52,444,491 (GRCm39) H398L probably benign Het
Cspg4b A G 13: 113,454,217 (GRCm39) T88A probably benign Het
Dlgap2 A T 8: 14,777,193 (GRCm39) H146L possibly damaging Het
Dop1a G A 9: 86,403,186 (GRCm39) R1462H probably damaging Het
Dusp29 C A 14: 21,736,758 (GRCm39) V115L probably benign Het
Dync2h1 T C 9: 7,168,706 (GRCm39) N369S probably damaging Het
Fer1l4 A C 2: 155,888,907 (GRCm39) V422G probably damaging Het
Fstl4 T C 11: 53,077,130 (GRCm39) M629T probably benign Het
Galnt18 A G 7: 111,084,400 (GRCm39) Y507H probably damaging Het
Gar1 C A 3: 129,624,399 (GRCm39) probably benign Het
Gm19402 T C 10: 77,526,507 (GRCm39) T29A probably damaging Het
Gm826 A G 2: 160,169,034 (GRCm39) F92L unknown Het
H1f0 T A 15: 78,913,070 (GRCm39) I50N probably damaging Het
H2-DMb1 A G 17: 34,376,439 (GRCm39) Y186C probably damaging Het
Hgf A G 5: 16,803,159 (GRCm39) N357S probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hsf2 T C 10: 57,388,101 (GRCm39) V415A probably benign Het
Ins2 C A 7: 142,233,430 (GRCm39) probably null Het
Kel A T 6: 41,667,720 (GRCm39) F89L probably damaging Het
Lratd2 T C 15: 60,695,146 (GRCm39) N200S probably damaging Het
Lrrc37a T C 11: 103,392,386 (GRCm39) D1013G probably benign Het
Ltbp4 C A 7: 27,027,180 (GRCm39) G397C probably damaging Het
Madd A G 2: 90,982,797 (GRCm39) probably null Het
Map4k4 A G 1: 40,043,125 (GRCm39) D660G possibly damaging Het
Mdm4 G A 1: 132,922,248 (GRCm39) T298I possibly damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mpdz A T 4: 81,215,764 (GRCm39) C1487S probably benign Het
Mtus1 A G 8: 41,537,576 (GRCm39) S47P probably damaging Het
Nek1 T C 8: 61,481,735 (GRCm39) S217P probably damaging Het
Or10ag59 T C 2: 87,405,590 (GRCm39) I54T probably benign Het
Or5b123 C T 19: 13,597,249 (GRCm39) A241V probably benign Het
Pcdhb10 T C 18: 37,546,679 (GRCm39) V585A possibly damaging Het
Perm1 A G 4: 156,302,176 (GRCm39) E240G probably benign Het
Pkdrej T C 15: 85,700,585 (GRCm39) T1784A probably damaging Het
Pnpla8 C T 12: 44,354,772 (GRCm39) T644M possibly damaging Het
Rgs2 T C 1: 143,879,763 (GRCm39) K32E probably damaging Het
Scyl3 A T 1: 163,778,145 (GRCm39) M428L probably benign Het
Slc30a8 A G 15: 52,198,530 (GRCm39) D325G probably benign Het
Slc5a9 G T 4: 111,741,002 (GRCm39) T548K probably damaging Het
Slc9b2 G A 3: 135,036,457 (GRCm39) probably null Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Slit3 T C 11: 35,461,560 (GRCm39) probably null Het
Stk39 C A 2: 68,222,468 (GRCm39) G199C probably damaging Het
Tbx1 A G 16: 18,402,216 (GRCm39) F263L probably damaging Het
Tdrd9 T A 12: 112,034,632 (GRCm39) M1357K possibly damaging Het
Tll1 A G 8: 64,504,521 (GRCm39) L625P probably damaging Het
Tmem131 G A 1: 36,847,387 (GRCm39) S1237L possibly damaging Het
Trdv5 T C 14: 54,386,298 (GRCm39) K56E possibly damaging Het
Triml2 G A 8: 43,640,659 (GRCm39) V172I probably benign Het
Trmt44 C A 5: 35,722,842 (GRCm39) D409Y probably damaging Het
Ube2o C T 11: 116,432,204 (GRCm39) A921T probably damaging Het
Ube2o T C 11: 116,435,576 (GRCm39) D404G possibly damaging Het
Ube4b T C 4: 149,483,203 (GRCm39) T22A probably benign Het
Ugp2 A T 11: 21,279,815 (GRCm39) F327L probably damaging Het
Virma T C 4: 11,521,172 (GRCm39) S910P probably damaging Het
Vmn2r9 A G 5: 108,990,836 (GRCm39) Y842H probably benign Het
Zfhx4 A G 3: 5,463,871 (GRCm39) D1368G possibly damaging Het
Zfp980 T A 4: 145,429,208 (GRCm39) *646R probably null Het
Zranb3 T A 1: 127,887,482 (GRCm39) N982Y 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
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'- TGGTCTTGAGCCTGGAGAAG -3'
(R):5'- TCCACGACTCTGTAAAGGGAAAG -3'

Sequencing Primer
(F):5'- AGAAGGCCTTGCTCAGCAC -3'
(R):5'- GGCAGCTCCAAACTTTTGAG -3'
Posted On 2017-10-10