Incidental Mutation 'R9340:Tcl1'
ID 707466
Institutional Source Beutler Lab
Gene Symbol Tcl1
Ensembl Gene ENSMUSG00000041359
Gene Name T cell lymphoma breakpoint 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R9340 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 105183012-105188996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105184979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 77 (Y77C)
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: Y77C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036066
Gene: ENSMUSG00000041359
AA Change: Y77C

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 111 2.1e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101071
AA Change: Y77C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098632
Gene: ENSMUSG00000041359
AA Change: Y77C

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 damaging
Transcript: ENSMUST00000176579
AA Change: Y77C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135069
Gene: ENSMUSG00000041359
AA Change: Y77C

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 87 6.9e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177521
AA Change: Y77C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134903
Gene: ENSMUSG00000041359
AA Change: Y77C

DomainStartEndE-ValueType
Pfam:TCL1_MTCP1 1 101 3.7e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T A 13: 61,001,647 (GRCm39) M58L probably benign Het
Abca8b A G 11: 109,840,939 (GRCm39) V1078A probably benign Het
Acvr2b A G 9: 119,257,492 (GRCm39) D175G probably damaging Het
Adad2 A G 8: 120,339,769 (GRCm39) M84V probably benign Het
Ahnak A T 19: 8,994,411 (GRCm39) M5232L probably benign Het
Ahsa1 T C 12: 87,315,053 (GRCm39) S69P probably damaging Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Antxr2 G T 5: 98,086,306 (GRCm39) P434T probably damaging Het
Arap1 T C 7: 101,037,382 (GRCm39) Y470H probably damaging Het
Baz1a A G 12: 54,963,372 (GRCm39) I907T probably damaging Het
Baz1b A T 5: 135,246,729 (GRCm39) Q726L probably benign Het
Bcar3 C T 3: 122,298,462 (GRCm39) probably benign Het
Bean1 C T 8: 104,908,739 (GRCm39) R39C probably damaging Het
Cass4 A T 2: 172,268,686 (GRCm39) N256I possibly damaging Het
Cnot10 T C 9: 114,460,897 (GRCm39) K91R probably benign Het
Col6a6 C T 9: 105,651,757 (GRCm39) V1085M probably damaging Het
Dpf3 A G 12: 83,534,449 (GRCm39) probably null Het
Dync1i2 T A 2: 71,093,019 (GRCm39) W605R probably damaging Het
Exoc5 A T 14: 49,286,297 (GRCm39) V110E probably damaging Het
Fgfr2 T A 7: 129,782,136 (GRCm39) H563L probably damaging Het
Fosl2 A G 5: 32,304,379 (GRCm39) T105A probably benign Het
Fsip2 A G 2: 82,818,604 (GRCm39) H4779R possibly damaging Het
Fuca2 A G 10: 13,382,518 (GRCm39) Y268C probably damaging Het
Galnt13 G A 2: 54,770,161 (GRCm39) E318K probably damaging Het
Hc G A 2: 34,876,294 (GRCm39) T1584I probably damaging Het
Helb T C 10: 119,928,556 (GRCm39) K762E probably damaging Het
Hspg2 T G 4: 137,296,827 (GRCm39) L4335R probably damaging Het
Ift88 A C 14: 57,718,920 (GRCm39) Q635P probably damaging Het
Inpp5a C A 7: 138,969,380 (GRCm39) D25E probably benign Het
Kcnu1 A G 8: 26,376,786 (GRCm39) T387A possibly damaging Het
Lamb1 G A 12: 31,374,223 (GRCm39) D1529N probably benign Het
Lamb1 A T 12: 31,374,224 (GRCm39) D1529V probably benign Het
Lnx1 T C 5: 74,758,584 (GRCm39) N476S probably benign Het
Mup17 T C 4: 61,512,633 (GRCm39) M87V probably benign Het
Naip6 G A 13: 100,452,494 (GRCm39) T189I probably damaging Het
Nf1 T A 11: 79,447,629 (GRCm39) Y462N possibly damaging Het
Nup133 T C 8: 124,664,881 (GRCm39) D270G probably benign Het
Obox2 T C 7: 15,130,789 (GRCm39) L7S probably damaging Het
Obox6 A T 7: 15,567,722 (GRCm39) S242T possibly damaging Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Pigyl C T 9: 22,069,130 (GRCm39) probably benign Het
Rasa1 A G 13: 85,369,649 (GRCm39) V891A probably damaging Het
Rxrg A G 1: 167,458,890 (GRCm39) D292G possibly damaging Het
Saal1 A G 7: 46,351,248 (GRCm39) F243L probably benign Het
Sec24c G A 14: 20,729,598 (GRCm39) V59M probably benign Het
Sema4f C A 6: 82,890,890 (GRCm39) G639V probably damaging Het
Serpinb1c A T 13: 33,066,172 (GRCm39) C258S probably benign Het
Snx21 CACCTGCAGGCAGTGCCAGAGCTACGCCAAGCTCCGGACCTGCAGG CACCTGCAGG 2: 164,633,849 (GRCm39) probably benign Het
Syndig1 T C 2: 149,845,175 (GRCm39) S233P probably damaging Het
Taf6l A T 19: 8,752,636 (GRCm39) L377M probably damaging Het
Tekt2 C A 4: 126,216,952 (GRCm39) M272I probably benign Het
Trp53bp1 T C 2: 121,100,460 (GRCm39) E98G probably benign Het
Ubr4 T A 4: 139,182,763 (GRCm39) I383N unknown Het
Wdr89 G T 12: 75,679,937 (GRCm39) P106T probably benign Het
Zfp534 T C 4: 147,758,698 (GRCm39) E657G possibly damaging Het
Zfp69 T C 4: 120,788,013 (GRCm39) K434R probably damaging Het
Zfyve26 T A 12: 79,321,680 (GRCm39) K980* probably null 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
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
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'- CATTAGCTTCTGGTACCAGGGTG -3'
(R):5'- ATCTGTCCTCAGGCTGTTGG -3'

Sequencing Primer
(F):5'- TGGAGGGAATATAGAGCTAGCCC -3'
(R):5'- CCTCAGGCTGTTGGGTCAG -3'
Posted On 2022-04-18