Incidental Mutation 'IGL00476:Tcf23'
ID 6461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcf23
Ensembl Gene ENSMUSG00000006642
Gene Name transcription factor 23
Synonyms Out, bHLHa24, 2010002O16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00476
Quality Score
Status
Chromosome 5
Chromosomal Location 31126006-31134362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31130869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 169 (C169F)
Ref Sequence ENSEMBL: ENSMUSP00000006818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006818]
AlphaFold Q9JLR5
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
4931414P19Rik T C 14: 54,833,035 (GRCm39) T47A possibly damaging Het
Adgrv1 A G 13: 81,637,193 (GRCm39) F3416S probably damaging Het
Arhgap42 T C 9: 9,006,344 (GRCm39) D684G probably damaging Het
Atp13a1 T C 8: 70,249,547 (GRCm39) L270P probably damaging Het
Baz2b T C 2: 59,744,083 (GRCm39) N1474S probably benign Het
Chmp1b2 A C X: 106,859,766 (GRCm39) probably benign Het
Chrna6 A G 8: 27,896,560 (GRCm39) I439T probably damaging Het
Cylc2 T C 4: 51,228,157 (GRCm39) M76T probably damaging Het
Ddx19a T C 8: 111,703,102 (GRCm39) K445R probably benign Het
Dennd4a A T 9: 64,819,044 (GRCm39) Y1733F probably damaging Het
Dop1b G A 16: 93,596,914 (GRCm39) probably benign Het
Ephb3 T A 16: 21,039,165 (GRCm39) probably null Het
Gpc2 G A 5: 138,272,571 (GRCm39) probably benign Het
Ift172 A G 5: 31,433,240 (GRCm39) Y550H probably damaging Het
Kat2a G A 11: 100,596,210 (GRCm39) R782W probably damaging Het
Ldhd G T 8: 112,355,270 (GRCm39) R238S possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mipep T G 14: 61,064,810 (GRCm39) L388R probably damaging Het
Mucl3 G T 17: 35,948,994 (GRCm39) H202N possibly damaging Het
Naa35 A G 13: 59,777,869 (GRCm39) D610G probably damaging Het
Nae1 A T 8: 105,253,013 (GRCm39) L137Q possibly damaging Het
Nt5dc3 T C 10: 86,669,838 (GRCm39) probably null Het
Nyx T C X: 13,353,264 (GRCm39) F373L possibly damaging Het
Scaf11 A T 15: 96,316,461 (GRCm39) D1034E possibly damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Taar7a A T 10: 23,868,294 (GRCm39) probably benign Het
Trim7 A T 11: 48,738,905 (GRCm39) N308I probably benign Het
Ubxn8 T C 8: 34,125,333 (GRCm39) E89G probably benign Het
Other mutations in Tcf23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0562:Tcf23 UTSW 5 31,127,654 (GRCm39) missense probably damaging 1.00
R1234:Tcf23 UTSW 5 31,127,566 (GRCm39) missense probably damaging 1.00
R1532:Tcf23 UTSW 5 31,130,901 (GRCm39) missense probably benign
R1563:Tcf23 UTSW 5 31,126,175 (GRCm39) missense probably benign
R1709:Tcf23 UTSW 5 31,130,852 (GRCm39) nonsense probably null
R2114:Tcf23 UTSW 5 31,130,919 (GRCm39) missense probably benign 0.02
R6781:Tcf23 UTSW 5 31,126,304 (GRCm39) missense probably benign 0.06
R7921:Tcf23 UTSW 5 31,127,494 (GRCm39) nonsense probably null
R8389:Tcf23 UTSW 5 31,127,464 (GRCm39) missense probably benign 0.34
R9698:Tcf23 UTSW 5 31,126,225 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20