Incidental Mutation 'IGL01386:Tcim'
ID79045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcim
Ensembl Gene ENSMUSG00000056313
Gene Nametranscriptional and immune response regulator
Synonyms1810011O10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.249) question?
Stock #IGL01386
Quality Score
Status
Chromosome8
Chromosomal Location24437180-24438984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24438689 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 70 (I70F)
Ref Sequence ENSEMBL: ENSMUSP00000058631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052622]
Predicted Effect probably benign
Transcript: ENSMUST00000052622
AA Change: I70F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000058631
Gene: ENSMUSG00000056313
AA Change: I70F

DomainStartEndE-ValueType
Pfam:TC1 10 85 5.2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181338
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit myeloid and lymphoid hyperplasia, an increased number of small-sized red blood cells, increased hematopoietic stem cell number, and enhanced hematopoietic activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,193,672 R214G probably benign Het
Cacna1e T A 1: 154,472,377 K817N probably benign Het
Cyp3a16 A G 5: 145,440,434 F448L probably damaging Het
Dpp6 T A 5: 27,664,762 probably null Het
Eif2ak3 C T 6: 70,892,726 T799M probably damaging Het
Erbb4 A T 1: 68,343,931 S302R probably damaging Het
Fam217a T A 13: 34,915,649 probably benign Het
Flt4 C A 11: 49,637,335 A995D probably benign Het
Fpr-rs7 G A 17: 20,114,192 S12L probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Hpcal4 T C 4: 123,189,242 probably null Het
Intu A T 3: 40,692,587 D630V probably damaging Het
Jak3 A G 8: 71,684,289 D703G probably damaging Het
Lama4 A G 10: 39,011,064 I122V probably benign Het
Marc2 A G 1: 184,819,216 probably benign Het
Mrpl11 A C 19: 4,963,381 K92T probably null Het
Mylk A G 16: 34,971,240 probably null Het
Olfr599 A T 7: 103,338,767 K238* probably null Het
Parpbp A C 10: 88,139,986 Y88* probably null Het
Plod2 G A 9: 92,606,602 R627Q probably damaging Het
Rapsn G T 2: 91,036,799 A149S probably damaging Het
Ripk3 T G 14: 55,786,027 Q109P probably damaging Het
Scaf11 T C 15: 96,420,480 D401G probably damaging Het
Serpine2 G A 1: 79,801,551 T150I probably damaging Het
Sh2d6 T A 6: 72,518,962 T98S probably benign Het
Slc28a1 G T 7: 81,164,679 A513S probably benign Het
Tanc2 T C 11: 105,886,381 F795S probably damaging Het
Thbd G A 2: 148,407,682 Q89* probably null Het
Tmem115 C T 9: 107,534,660 T61I probably damaging Het
Tsc2 A T 17: 24,613,285 V650E probably damaging Het
Tubgcp6 A T 15: 89,107,996 Y595* probably null Het
Uroc1 C T 6: 90,346,765 A398V probably damaging Het
Vmn1r31 T C 6: 58,472,602 T93A probably benign Het
Vmn2r113 A G 17: 22,956,050 E545G possibly damaging Het
Vps13a A G 19: 16,701,152 V1155A possibly damaging Het
Zfp667 A G 7: 6,304,870 H179R probably benign Het
Other mutations in Tcim
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Tcim APN 8 24438876 missense probably benign
IGL01945:Tcim APN 8 24438876 missense probably benign
R0464:Tcim UTSW 8 24438628 missense probably damaging 1.00
R0519:Tcim UTSW 8 24438635 missense possibly damaging 0.80
R2322:Tcim UTSW 8 24438710 missense probably damaging 1.00
R3766:Tcim UTSW 8 24438749 missense probably damaging 0.98
R4623:Tcim UTSW 8 24438709 missense probably damaging 1.00
R6242:Tcim UTSW 8 24438895 start codon destroyed probably null 0.90
Posted On2013-11-05