Incidental Mutation 'IGL02413:Tcl1'
ID292344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcl1
Ensembl Gene ENSMUSG00000041359
Gene NameT cell lymphoma breakpoint 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02413
Quality Score
Status
Chromosome12
Chromosomal Location105216750-105222793 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 105218823 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 43 (E43*)
Ref Sequence ENSEMBL: ENSMUSP00000134903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041316] [ENSMUST00000101071] [ENSMUST00000175652] [ENSMUST00000176579] [ENSMUST00000177521]
Predicted Effect probably null
Transcript: ENSMUST00000041316
AA Change: E43*
SMART Domains Protein: ENSMUSP00000036066
Gene: ENSMUSG00000041359
AA Change: E43*

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 111 2.1e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000101071
AA Change: E43*
SMART Domains Protein: ENSMUSP00000098632
Gene: ENSMUSG00000041359
AA Change: E43*

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 104 7.6e-39 PFAM
low complexity region 142 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175652
SMART Domains Protein: ENSMUSP00000134811
Gene: ENSMUSG00000041359

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 46 2.5e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176579
AA Change: E43*
SMART Domains Protein: ENSMUSP00000135069
Gene: ENSMUSG00000041359
AA Change: E43*

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 87 6.9e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176952
Predicted Effect probably null
Transcript: ENSMUST00000177521
AA Change: E43*
SMART Domains Protein: ENSMUSP00000134903
Gene: ENSMUSG00000041359
AA Change: E43*

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 101 3.7e-41 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele display a maternal fertility defect that leads to a progressive reduction in litter size and a shortened reproductive lifespan. Reduced female fertility is caused by impaired blastomere proliferation in the early preimplantation embryo. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,422,437 probably benign Het
Afap1l1 A G 18: 61,733,789 L733P probably benign Het
Aqr G A 2: 114,118,780 A979V possibly damaging Het
Axin1 A G 17: 26,188,179 E582G probably benign Het
Catsper1 T C 19: 5,336,236 S166P possibly damaging Het
Cd248 G T 19: 5,070,173 G683V probably damaging Het
Celsr1 G T 15: 86,031,226 Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 V324F probably benign Het
Ctrc C A 4: 141,843,717 V71L possibly damaging Het
Exoc3l C A 8: 105,292,438 D465Y probably damaging Het
Fam205c T C 4: 42,868,549 D358G probably damaging Het
Flna T C X: 74,241,282 E417G probably benign Het
Grm6 T A 11: 50,859,939 V643D probably damaging Het
Inpp4b A G 8: 82,033,171 Y615C probably benign Het
Itga3 T C 11: 95,068,771 Y92C probably damaging Het
Jak3 T C 8: 71,686,119 probably null Het
Kcnh6 T A 11: 106,027,634 I823N possibly damaging Het
Klhl38 A T 15: 58,323,021 V104D probably damaging Het
Lpo C T 11: 87,806,906 V692M possibly damaging Het
Mnd1 T C 3: 84,116,479 H100R probably benign Het
Mterf4 A G 1: 93,302,804 F207L probably damaging Het
Olfr1395 T C 11: 49,148,557 L100P probably damaging Het
Oog3 C A 4: 144,158,151 W405L probably benign Het
Ptpn3 A G 4: 57,205,020 Y714H probably damaging Het
Steap3 T C 1: 120,241,772 Y265C probably damaging Het
Terb1 A G 8: 104,494,868 probably null Het
Tmprss11a T A 5: 86,422,648 I151F possibly damaging Het
Trappc10 T C 10: 78,210,776 R430G probably damaging Het
Usp17le T C 7: 104,769,726 N70D probably benign Het
Vmn1r45 T C 6: 89,933,521 S36G possibly damaging Het
Vsig8 A C 1: 172,560,376 Y11S probably damaging Het
Vwa5b2 T A 16: 20,598,101 L516Q probably damaging Het
Other mutations in Tcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0726:Tcl1 UTSW 12 105218670 missense probably damaging 0.99
R4586:Tcl1 UTSW 12 105217508 unclassified probably benign
R4931:Tcl1 UTSW 12 105222613 missense probably damaging 1.00
R6924:Tcl1 UTSW 12 105218756 missense probably damaging 1.00
R7036:Tcl1 UTSW 12 105217601 utr 3 prime probably benign
R7350:Tcl1 UTSW 12 105218675 missense probably damaging 1.00
Z1176:Tcl1 UTSW 12 105217481 missense unknown
Z1176:Tcl1 UTSW 12 105217551 missense unknown
Z1177:Tcl1 UTSW 12 105218812 missense probably damaging 1.00
Posted On2015-04-16