Incidental Mutation 'R4931:Tcl1'
ID 380586
Institutional Source Beutler Lab
Gene Symbol Tcl1
Ensembl Gene ENSMUSG00000041359
Gene Name T cell lymphoma breakpoint 1
Synonyms
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 105183012-105188996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 105188872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 14 (H14N)
Ref Sequence ENSEMBL: ENSMUSP00000098632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041316] [ENSMUST00000101071] [ENSMUST00000175652] [ENSMUST00000176579] [ENSMUST00000177521]
AlphaFold P56280
Predicted Effect probably damaging
Transcript: ENSMUST00000041316
AA Change: H14N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036066
Gene: ENSMUSG00000041359
AA Change: H14N

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 111 2.1e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101071
AA Change: H14N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098632
Gene: ENSMUSG00000041359
AA Change: H14N

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 104 7.6e-39 PFAM
low complexity region 142 154 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000175652
AA Change: H14N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134811
Gene: ENSMUSG00000041359
AA Change: H14N

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 46 2.5e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176579
AA Change: H14N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135069
Gene: ENSMUSG00000041359
AA Change: H14N

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 87 6.9e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176952
Predicted Effect probably damaging
Transcript: ENSMUST00000177521
AA Change: H14N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134903
Gene: ENSMUSG00000041359
AA Change: H14N

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 101 3.7e-41 PFAM
Meta Mutation Damage Score 0.2620 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging Het
Other mutations in Tcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02413:Tcl1 APN 12 105,185,082 (GRCm39) nonsense probably null
R0726:Tcl1 UTSW 12 105,184,929 (GRCm39) missense probably damaging 0.99
R4586:Tcl1 UTSW 12 105,183,767 (GRCm39) unclassified probably benign
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
Predicted Primers PCR Primer
(F):5'- ACAAGGGACCCTCTGTATCC -3'
(R):5'- ATACCATCCTTGTGGTTCGC -3'

Sequencing Primer
(F):5'- AAGGGACCCTCTGTATCCTGGTC -3'
(R):5'- ACACTACTCTGCCCCGC -3'
Posted On 2016-04-15