Incidental Mutation 'IGL01937:Tcim'
ID 279167
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcim
Ensembl Gene ENSMUSG00000056313
Gene Name transcriptional and immune response regulator
Synonyms 1810011O10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # IGL01937
Quality Score
Status
Chromosome 8
Chromosomal Location 24927188-24928962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24928892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 7 (H7Q)
Ref Sequence ENSEMBL: ENSMUSP00000058631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052622]
AlphaFold Q9D915
Predicted Effect probably benign
Transcript: ENSMUST00000052622
AA Change: H7Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058631
Gene: ENSMUSG00000056313
AA Change: H7Q

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 109,974,130 (GRCm39) probably benign Het
Abcb11 G T 2: 69,117,956 (GRCm39) P474H probably damaging Het
Actn1 T C 12: 80,218,537 (GRCm39) N749S probably benign Het
Atf7ip2 T A 16: 10,059,401 (GRCm39) probably null Het
Brinp3 A T 1: 146,776,878 (GRCm39) T442S probably benign Het
Cdh20 A G 1: 110,065,826 (GRCm39) N700S probably benign Het
Cntn4 T A 6: 106,414,865 (GRCm39) V132E probably damaging Het
Dlc1 G T 8: 37,317,345 (GRCm39) S443R probably benign Het
Evi2b T A 11: 79,406,893 (GRCm39) K227N probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gstm3 T C 3: 107,874,973 (GRCm39) E93G probably damaging Het
Hemgn T C 4: 46,396,057 (GRCm39) Y393C probably damaging Het
Hepacam2 T A 6: 3,487,117 (GRCm39) Y4F probably benign Het
Hipk1 T C 3: 103,651,320 (GRCm39) I1148V possibly damaging Het
Katnip A G 7: 125,453,777 (GRCm39) T1165A probably benign Het
Kl A T 5: 150,912,402 (GRCm39) D717V probably damaging Het
Mmp14 T C 14: 54,675,053 (GRCm39) probably benign Het
Nlrp1b T G 11: 71,072,233 (GRCm39) T537P probably damaging Het
Or5k3 T C 16: 58,969,827 (GRCm39) S205P probably benign Het
Or8k33 A G 2: 86,383,793 (GRCm39) V225A probably benign Het
Pcnx3 A G 19: 5,727,691 (GRCm39) V1031A probably benign Het
Plk2 A G 13: 110,535,588 (GRCm39) D470G possibly damaging Het
Ppa1 G A 10: 61,501,215 (GRCm39) V161M probably benign Het
Prrc2a A C 17: 35,374,567 (GRCm39) I1361S possibly damaging Het
Psmd6 A T 14: 14,116,169 (GRCm38) S140T probably benign Het
Ptprm A G 17: 67,353,158 (GRCm39) probably benign Het
Ranbp17 T C 11: 33,278,520 (GRCm39) T116A possibly damaging Het
Reps1 A G 10: 17,969,584 (GRCm39) N229S probably benign Het
Rfx3 A T 19: 27,808,129 (GRCm39) Y205N probably damaging Het
Robo1 A T 16: 72,759,114 (GRCm39) I376F probably damaging Het
Ryr2 T A 13: 11,805,249 (GRCm39) I872F probably damaging Het
Selenop C T 15: 3,308,750 (GRCm39) T234M probably benign Het
Sgip1 T C 4: 102,823,439 (GRCm39) Y707H probably damaging Het
Strap A G 6: 137,718,333 (GRCm39) I146V probably benign Het
Thada G T 17: 84,530,194 (GRCm39) T1725N probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r84 A G 10: 130,221,755 (GRCm39) C822R probably damaging Het
Other mutations in Tcim
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Tcim APN 8 24,928,705 (GRCm39) missense probably benign 0.04
IGL01945:Tcim APN 8 24,928,892 (GRCm39) missense probably benign
R0464:Tcim UTSW 8 24,928,644 (GRCm39) missense probably damaging 1.00
R0519:Tcim UTSW 8 24,928,651 (GRCm39) missense possibly damaging 0.80
R2322:Tcim UTSW 8 24,928,726 (GRCm39) missense probably damaging 1.00
R3766:Tcim UTSW 8 24,928,765 (GRCm39) missense probably damaging 0.98
R4623:Tcim UTSW 8 24,928,725 (GRCm39) missense probably damaging 1.00
R6242:Tcim UTSW 8 24,928,911 (GRCm39) start codon destroyed probably null 0.90
R9195:Tcim UTSW 8 24,928,878 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16