Incidental Mutation 'R3411:Tal2'
ID 267705
Institutional Source Beutler Lab
Gene Symbol Tal2
Ensembl Gene ENSMUSG00000028417
Gene Name T cell acute lymphocytic leukemia 2
Synonyms bHLHa19
MMRRC Submission 040629-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.553) question?
Stock # R3411 (G1)
Quality Score 225
Status 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: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (62/62)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,466,596 (GRCm39) V675D possibly damaging Het
Adamts16 T C 13: 70,901,345 (GRCm39) T911A probably benign Het
Adgra1 T C 7: 139,427,619 (GRCm39) F62S possibly damaging Het
Adgra3 A G 5: 50,159,272 (GRCm39) V326A probably damaging Het
Aff1 T A 5: 103,902,572 (GRCm39) M1K probably null Het
AI429214 C T 8: 37,461,071 (GRCm39) S73L probably benign Het
Apc C A 18: 34,402,312 (GRCm39) probably benign Het
Apcs T C 1: 172,722,130 (GRCm39) Y72C probably damaging Het
Arid4a T C 12: 71,108,299 (GRCm39) probably benign Het
Armcx4 C A X: 133,591,774 (GRCm39) Q561K probably benign Het
Atp5po C T 16: 91,725,794 (GRCm39) R64H probably damaging Het
Bank1 G A 3: 135,953,534 (GRCm39) probably benign Het
Ccdc150 A G 1: 54,395,932 (GRCm39) D805G probably benign Het
Ccdc88a T A 11: 29,436,006 (GRCm39) C10S probably damaging Het
Dnah1 A T 14: 30,991,774 (GRCm39) M3076K possibly damaging Het
Dnpep A G 1: 75,293,270 (GRCm39) V33A probably damaging Het
Egfem1 C T 3: 29,637,170 (GRCm39) T202I probably damaging Het
Fam120b T A 17: 15,651,897 (GRCm39) probably benign Het
Frem1 T C 4: 82,881,416 (GRCm39) T1263A possibly damaging Het
Gm6802 C A 12: 19,540,621 (GRCm39) noncoding transcript Het
Golga2 C A 2: 32,192,954 (GRCm39) A424E probably damaging Het
Gpat2 G A 2: 127,270,211 (GRCm39) V75M probably damaging Het
Grik5 T C 7: 24,762,397 (GRCm39) D198G probably benign Het
Hcrtr2 A G 9: 76,140,290 (GRCm39) F333L probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Htr1b A C 9: 81,514,094 (GRCm39) V171G probably benign Het
Kalrn G T 16: 34,032,642 (GRCm39) D1117E probably benign Het
Kcp T C 6: 29,482,845 (GRCm39) N1408S possibly damaging Het
Klhl7 G T 5: 24,343,319 (GRCm39) V212L probably damaging Het
Klra17 T A 6: 129,851,809 (GRCm39) N21I probably damaging Het
Lrrc8d A T 5: 105,974,572 (GRCm39) noncoding transcript Het
Mast2 C G 4: 116,168,107 (GRCm39) E881Q possibly damaging Het
Mcm6 T C 1: 128,279,322 (GRCm39) T155A probably benign Het
Mslnl T C 17: 25,963,491 (GRCm39) F326L probably benign Het
Nlrp4c A G 7: 6,095,569 (GRCm39) K816E possibly damaging Het
Or10g1 T A 14: 52,647,818 (GRCm39) R170S possibly damaging Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Or5p69 A T 7: 107,967,551 (GRCm39) I285F possibly damaging Het
Or8k3 T C 2: 86,058,986 (GRCm39) S110G probably benign Het
Otoa A G 7: 120,721,266 (GRCm39) Q427R probably damaging Het
Pcdhb6 A G 18: 37,468,945 (GRCm39) E622G probably damaging Het
Pdzd8 A G 19: 59,333,845 (GRCm39) Y59H probably damaging Het
Psmc3 A C 2: 90,886,263 (GRCm39) D159A probably damaging Het
Ripk4 T C 16: 97,545,157 (GRCm39) T497A probably benign Het
Rpn2 C A 2: 157,132,572 (GRCm39) A108E possibly damaging 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
Slc16a4 G A 3: 107,208,188 (GRCm39) E233K 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
Styxl1 T C 5: 135,794,618 (GRCm39) Y83C probably damaging Het
Sypl2 C T 3: 108,124,045 (GRCm39) V166I possibly damaging Het
Tenm4 T C 7: 96,501,737 (GRCm39) Y1314H probably damaging Het
Ttn A C 2: 76,772,749 (GRCm39) N2415K possibly damaging Het
Usp53 T C 3: 122,743,507 (GRCm39) probably null Het
Vmn2r65 T C 7: 84,595,896 (GRCm39) I263V 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
R3409:Tal2 UTSW 4 53,785,843 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCATGCTGGTCTTTGGC -3'
(R):5'- CAGCGACTCCTGTTTGATGC -3'

Sequencing Primer
(F):5'- AGAGCACTGACTGTTCTTCCAGAG -3'
(R):5'- CAGGCTTTGCTCTCCCAAGAC -3'
Posted On 2015-02-18