Incidental Mutation 'R3409:Tal2'
ID 258413
Institutional Source Beutler Lab
Gene Symbol Tal2
Ensembl Gene ENSMUSG00000028417
Gene Name T cell acute lymphocytic leukemia 2
Synonyms bHLHa19
MMRRC Submission 040627-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.594) question?
Stock # R3409 (G1)
Quality Score 217
Status Not validated
Chromosome 4
Chromosomal Location 53779705-53788712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53785843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 8 (N8S)
Ref Sequence ENSEMBL: ENSMUSP00000030124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030124]
AlphaFold Q62282
Predicted Effect probably damaging
Transcript: ENSMUST00000030124
AA Change: N8S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030124
Gene: ENSMUSG00000028417
AA Change: N8S

DomainStartEndE-ValueType
HLH 8 60 4.89e-18 SMART
Meta Mutation Damage Score 0.8964 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutation of this gene results in growth retardation and lethality before reaching reproductive age. Mice exhibit brain abnormalities including a small superior colliculus and progressive hydrocephalus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A G 5: 50,159,272 (GRCm39) V326A probably damaging Het
AI429214 C T 8: 37,461,071 (GRCm39) S73L probably benign Het
Atp13a4 G T 16: 29,232,567 (GRCm39) T923K probably damaging Het
Ccdc150 A G 1: 54,395,932 (GRCm39) D805G probably benign Het
Ccdc185 T G 1: 182,576,313 (GRCm39) Q125H possibly damaging Het
Ccdc88a T A 11: 29,436,006 (GRCm39) C10S probably damaging Het
Cpsf1 G T 15: 76,485,981 (GRCm39) Y396* probably null Het
Dnpep A G 1: 75,293,270 (GRCm39) V33A probably damaging Het
Fbn1 G A 2: 125,254,585 (GRCm39) A226V possibly damaging Het
Frmd4a A T 2: 4,157,839 (GRCm39) probably benign Het
Gipr A G 7: 18,893,719 (GRCm39) V318A possibly damaging Het
Gsdmc4 A G 15: 63,763,895 (GRCm39) S401P probably benign Het
H2-M10.6 T A 17: 37,124,893 (GRCm39) V270E probably damaging Het
Klhl7 G T 5: 24,343,319 (GRCm39) V212L probably damaging Het
Krt10 C A 11: 99,278,087 (GRCm39) R322L probably damaging Het
Lrrn4 A G 2: 132,721,781 (GRCm39) L12P unknown Het
Mast2 C G 4: 116,168,107 (GRCm39) E881Q possibly damaging Het
Nod1 G T 6: 54,921,902 (GRCm39) R139S probably benign Het
Notch3 C T 17: 32,369,676 (GRCm39) V772M possibly damaging Het
Nrxn1 G A 17: 90,515,795 (GRCm39) T19M probably damaging Het
Nudcd1 T C 15: 44,284,207 (GRCm39) M60V probably benign Het
Or10g1 T A 14: 52,647,818 (GRCm39) R170S possibly damaging Het
Or4c1 A G 2: 89,133,717 (GRCm39) F73S probably benign Het
Or4c115 T C 2: 88,927,668 (GRCm39) N201S possibly damaging Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Or5w8 T A 2: 87,688,005 (GRCm39) L162* probably null Het
Or8c9 T A 9: 38,241,640 (GRCm39) S252R possibly damaging Het
Pcdhb6 A G 18: 37,468,945 (GRCm39) E622G probably damaging Het
Pitrm1 G A 13: 6,628,517 (GRCm39) A937T possibly damaging Het
Plxnb1 G A 9: 108,935,681 (GRCm39) probably null Het
Ripk3 T G 14: 56,025,698 (GRCm39) N54T probably damaging Het
Rpn2 C A 2: 157,132,572 (GRCm39) A108E possibly damaging Het
Scaf11 A G 15: 96,312,745 (GRCm39) V1432A probably damaging Het
Sec14l5 C T 16: 4,983,518 (GRCm39) probably null Het
Serpina3n A G 12: 104,377,536 (GRCm39) E263G possibly damaging Het
Six4 A G 12: 73,159,657 (GRCm39) F101S probably damaging Het
Slc12a1 A G 2: 124,996,071 (GRCm39) T75A probably benign Het
Slc26a9 T C 1: 131,691,682 (GRCm39) S642P probably benign Het
Smu1 T C 4: 40,752,008 (GRCm39) T183A probably benign Het
Sptb T G 12: 76,657,589 (GRCm39) K1311Q possibly damaging Het
Tenm4 A G 7: 96,544,367 (GRCm39) T2128A probably damaging Het
Tmem67 A T 4: 12,073,952 (GRCm39) M288K probably benign Het
Ubr1 A C 2: 120,793,929 (GRCm39) I85S probably benign Het
Vmn2r90 G T 17: 17,953,638 (GRCm39) V601L probably benign Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Other mutations in Tal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02525:Tal2 APN 4 53,785,971 (GRCm39) missense probably damaging 1.00
IGL02735:Tal2 APN 4 53,785,906 (GRCm39) missense probably damaging 1.00
IGL03390:Tal2 APN 4 53,785,994 (GRCm39) missense probably damaging 1.00
R1381:Tal2 UTSW 4 53,785,999 (GRCm39) missense probably benign 0.15
R1512:Tal2 UTSW 4 53,786,107 (GRCm39) missense probably benign
R3411:Tal2 UTSW 4 53,785,843 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCATGCTGGTCTTTGGC -3'
(R):5'- GCGACTCCTGTTTGATGCAG -3'

Sequencing Primer
(F):5'- AGAGCACTGACTGTTCTTCCAGAG -3'
(R):5'- AGGCTTTGCTCTCCCAAGAC -3'
Posted On 2015-01-23