Incidental Mutation 'IGL01937:Tcim'
ID279167
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: 0.210) question?
Stock #IGL01937
Quality Score
Status
Chromosome8
Chromosomal Location24437180-24438984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24438876 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 7 (H7Q)
Ref Sequence ENSEMBL: ENSMUSP00000058631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052622]
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: 110,083,304 probably benign Het
Abcb11 G T 2: 69,287,612 P474H probably damaging Het
Actn1 T C 12: 80,171,763 N749S probably benign Het
Atf7ip2 T A 16: 10,241,537 probably null Het
Brinp3 A T 1: 146,901,140 T442S probably benign Het
Cdh7 A G 1: 110,138,096 N700S probably benign Het
Cntn4 T A 6: 106,437,904 V132E probably damaging Het
D430042O09Rik A G 7: 125,854,605 T1165A probably benign Het
Dlc1 G T 8: 36,850,191 S443R probably benign Het
Evi2b T A 11: 79,516,067 K227N probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gstm3 T C 3: 107,967,657 E93G probably damaging Het
Hemgn T C 4: 46,396,057 Y393C probably damaging Het
Hepacam2 T A 6: 3,487,117 Y4F probably benign Het
Hipk1 T C 3: 103,744,004 I1148V possibly damaging Het
Kl A T 5: 150,988,937 D717V probably damaging Het
Mmp14 T C 14: 54,437,596 probably benign Het
Nlrp1b T G 11: 71,181,407 T537P probably damaging Het
Olfr1080 A G 2: 86,553,449 V225A probably benign Het
Olfr195 T C 16: 59,149,464 S205P probably benign Het
Pcnx3 A G 19: 5,677,663 V1031A probably benign Het
Plk2 A G 13: 110,399,054 D470G possibly damaging Het
Ppa1 G A 10: 61,665,436 V161M probably benign Het
Prrc2a A C 17: 35,155,591 I1361S possibly damaging Het
Psmd6 A T 14: 14,116,169 S140T probably benign Het
Ptprm A G 17: 67,046,163 probably benign Het
Ranbp17 T C 11: 33,328,520 T116A possibly damaging Het
Reps1 A G 10: 18,093,836 N229S probably benign Het
Rfx3 A T 19: 27,830,729 Y205N probably damaging Het
Robo1 A T 16: 72,962,226 I376F probably damaging Het
Ryr2 T A 13: 11,790,363 I872F probably damaging Het
Selenop C T 15: 3,279,268 T234M probably benign Het
Sgip1 T C 4: 102,966,242 Y707H probably damaging Het
Strap A G 6: 137,741,335 I146V probably benign Het
Thada G T 17: 84,222,766 T1725N probably benign Het
Vmn2r84 A G 10: 130,385,886 C822R probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Tcim
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Tcim APN 8 24438689 missense probably benign 0.04
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 On2015-04-16