Incidental Mutation 'IGL02413:Tcl1'
ID 292344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcl1
Ensembl Gene ENSMUSG00000041359
Gene Name T cell lymphoma breakpoint 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL02413
Quality Score
Status
Chromosome 12
Chromosomal Location 105183012-105188996 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 105185082 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P56280
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: 20,241,187 (GRCm39) probably benign Het
Afap1l1 A G 18: 61,866,860 (GRCm39) L733P probably benign Het
Aqr G A 2: 113,949,261 (GRCm39) A979V possibly damaging Het
Axin1 A G 17: 26,407,153 (GRCm39) E582G probably benign Het
Catsper1 T C 19: 5,386,264 (GRCm39) S166P possibly damaging Het
Cd248 G T 19: 5,120,201 (GRCm39) G683V probably damaging Het
Celsr1 G T 15: 85,915,427 (GRCm39) Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 (GRCm39) V324F probably benign Het
Ctrc C A 4: 141,571,028 (GRCm39) V71L possibly damaging Het
Exoc3l C A 8: 106,019,070 (GRCm39) D465Y probably damaging Het
Flna T C X: 73,284,888 (GRCm39) E417G probably benign Het
Grm6 T A 11: 50,750,766 (GRCm39) V643D probably damaging Het
Inpp4b A G 8: 82,759,800 (GRCm39) Y615C probably benign Het
Itga3 T C 11: 94,959,597 (GRCm39) Y92C probably damaging Het
Jak3 T C 8: 72,138,763 (GRCm39) probably null Het
Kcnh6 T A 11: 105,918,460 (GRCm39) I823N possibly damaging Het
Klhl38 A T 15: 58,186,417 (GRCm39) V104D probably damaging Het
Lpo C T 11: 87,697,732 (GRCm39) V692M possibly damaging Het
Mnd1 T C 3: 84,023,786 (GRCm39) H100R probably benign Het
Mterf4 A G 1: 93,230,526 (GRCm39) F207L probably damaging Het
Oog3 C A 4: 143,884,721 (GRCm39) W405L probably benign Het
Or2t26 T C 11: 49,039,384 (GRCm39) L100P probably damaging Het
Ptpn3 A G 4: 57,205,020 (GRCm39) Y714H probably damaging Het
Spata31f3 T C 4: 42,868,549 (GRCm39) D358G probably damaging Het
Steap3 T C 1: 120,169,502 (GRCm39) Y265C probably damaging Het
Terb1 A G 8: 105,221,500 (GRCm39) probably null Het
Tmprss11a T A 5: 86,570,507 (GRCm39) I151F possibly damaging Het
Trappc10 T C 10: 78,046,610 (GRCm39) R430G probably damaging Het
Usp17le T C 7: 104,418,933 (GRCm39) N70D probably benign Het
Vmn1r45 T C 6: 89,910,503 (GRCm39) S36G possibly damaging Het
Vsig8 A C 1: 172,387,943 (GRCm39) Y11S probably damaging Het
Vwa5b2 T A 16: 20,416,851 (GRCm39) L516Q probably damaging Het
Other mutations in Tcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0726:Tcl1 UTSW 12 105,184,929 (GRCm39) missense probably damaging 0.99
R4586:Tcl1 UTSW 12 105,183,767 (GRCm39) unclassified probably benign
R4931:Tcl1 UTSW 12 105,188,872 (GRCm39) missense probably damaging 1.00
R6924:Tcl1 UTSW 12 105,185,015 (GRCm39) missense probably damaging 1.00
R7036:Tcl1 UTSW 12 105,183,860 (GRCm39) utr 3 prime probably benign
R7350:Tcl1 UTSW 12 105,184,934 (GRCm39) missense probably damaging 1.00
R8926:Tcl1 UTSW 12 105,184,969 (GRCm39) intron probably benign
R9340:Tcl1 UTSW 12 105,184,979 (GRCm39) missense probably damaging 1.00
Z1176:Tcl1 UTSW 12 105,183,810 (GRCm39) missense unknown
Z1176:Tcl1 UTSW 12 105,183,740 (GRCm39) missense unknown
Z1177:Tcl1 UTSW 12 105,185,071 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16