Incidental Mutation 'IGL00476:Tcf23'
ID6461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcf23
Ensembl Gene ENSMUSG00000006642
Gene Nametranscription factor 23
SynonymsbHLHa24, Out, 2010002O16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00476
Quality Score
Status
Chromosome5
Chromosomal Location30968662-30977018 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 30973525 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 169 (C169F)
Ref Sequence ENSEMBL: ENSMUSP00000006818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006818]
Predicted Effect probably benign
Transcript: ENSMUST00000006818
AA Change: C169F

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000006818
Gene: ENSMUSG00000006642
AA Change: C169F

DomainStartEndE-ValueType
low complexity region 55 74 N/A INTRINSIC
HLH 81 133 8.93e-12 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of the basic helix-loop-helix transcription factor family. Studies of the orthologous gene in mouse have shown the encoded protein does not bind DNA but may negatively regulate other basic helix-loop-helix factors via the formation of a functionally inactive heterodimeric complex. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik A C X: 107,816,160 probably benign Het
4931414P19Rik T C 14: 54,595,578 T47A possibly damaging Het
Adgrv1 A G 13: 81,489,074 F3416S probably damaging Het
Arhgap42 T C 9: 9,006,343 D684G probably damaging Het
Atp13a1 T C 8: 69,796,897 L270P probably damaging Het
Baz2b T C 2: 59,913,739 N1474S probably benign Het
Chrna6 A G 8: 27,406,532 I439T probably damaging Het
Cylc2 T C 4: 51,228,157 M76T probably damaging Het
Ddx19a T C 8: 110,976,470 K445R probably benign Het
Dennd4a A T 9: 64,911,762 Y1733F probably damaging Het
Dopey2 G A 16: 93,800,026 probably benign Het
Dpcr1 G T 17: 35,638,102 H202N possibly damaging Het
Ephb3 T A 16: 21,220,415 probably null Het
Gpc2 G A 5: 138,274,309 probably benign Het
Ift172 A G 5: 31,275,896 Y550H probably damaging Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Ldhd G T 8: 111,628,638 R238S possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep T G 14: 60,827,361 L388R probably damaging Het
Naa35 A G 13: 59,630,055 D610G probably damaging Het
Nae1 A T 8: 104,526,381 L137Q possibly damaging Het
Nt5dc3 T C 10: 86,833,974 probably null Het
Nyx T C X: 13,487,025 F373L possibly damaging Het
Scaf11 A T 15: 96,418,580 D1034E possibly damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taar7a A T 10: 23,992,396 probably benign Het
Trim7 A T 11: 48,848,078 N308I probably benign Het
Ubxn8 T C 8: 33,635,305 E89G probably benign Het
Other mutations in Tcf23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0562:Tcf23 UTSW 5 30970310 missense probably damaging 1.00
R1234:Tcf23 UTSW 5 30970222 missense probably damaging 1.00
R1532:Tcf23 UTSW 5 30973557 missense probably benign
R1563:Tcf23 UTSW 5 30968831 missense probably benign
R1709:Tcf23 UTSW 5 30973508 nonsense probably null
R2114:Tcf23 UTSW 5 30973575 missense probably benign 0.02
R6781:Tcf23 UTSW 5 30968960 missense probably benign 0.06
Posted On2012-04-20