Incidental Mutation 'IGL02735:Tal2'
ID 305619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tal2
Ensembl Gene ENSMUSG00000028417
Gene Name T cell acute lymphocytic leukemia 2
Synonyms bHLHa19
Accession Numbers
Essential gene? Possibly essential (E-score: 0.553) question?
Stock # IGL02735
Quality Score
Status
Chromosome 4
Chromosomal Location 53779705-53788712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53785906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 29 (I29N)
Ref Sequence ENSEMBL: ENSMUSP00000030124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030124]
AlphaFold Q62282
Predicted Effect probably damaging
Transcript: ENSMUST00000030124
AA Change: I29N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030124
Gene: ENSMUSG00000028417
AA Change: I29N

DomainStartEndE-ValueType
HLH 8 60 4.89e-18 SMART
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
Acss1 A T 2: 150,480,387 (GRCm39) V228E probably damaging Het
Ampd1 T A 3: 102,992,693 (GRCm39) M145K probably damaging Het
Ankhd1 G A 18: 36,781,599 (GRCm39) S2217N probably benign Het
Asph T A 4: 9,598,759 (GRCm39) D211V probably damaging Het
Cd55b A T 1: 130,316,413 (GRCm39) W379R probably damaging Het
Derl3 A G 10: 75,730,950 (GRCm39) T201A probably damaging Het
Efcab6 A G 15: 83,783,898 (GRCm39) L1008P probably damaging Het
Eif4g3 A G 4: 137,853,522 (GRCm39) I363V probably benign Het
Heatr5a A G 12: 51,961,804 (GRCm39) F1058L probably damaging Het
Hmcn1 A T 1: 150,522,583 (GRCm39) M3439K probably benign Het
Ift140 C A 17: 25,253,009 (GRCm39) probably benign Het
Itgad A G 7: 127,792,888 (GRCm39) Y832C probably damaging Het
Itgb2 T A 10: 77,385,833 (GRCm39) D265E possibly damaging Het
Kif19a A T 11: 114,676,393 (GRCm39) E449V probably damaging Het
Krt40 T C 11: 99,429,461 (GRCm39) E291G probably damaging Het
Lama2 T C 10: 26,980,124 (GRCm39) N1897S probably damaging Het
Lepr A G 4: 101,639,835 (GRCm39) Y767C probably damaging Het
Lrrtm4 A G 6: 80,786,031 (GRCm39) H546R probably benign Het
Marchf6 A G 15: 31,486,266 (GRCm39) S362P probably benign Het
Med12l A G 3: 59,001,067 (GRCm39) Y734C probably damaging Het
Mrps18a C T 17: 46,433,725 (GRCm39) R74C probably damaging Het
Mvk A G 5: 114,588,880 (GRCm39) E174G probably benign Het
Naip2 A G 13: 100,296,722 (GRCm39) S1105P probably damaging Het
Nrxn3 A G 12: 89,221,624 (GRCm39) M468V probably benign Het
Obscn T C 11: 58,984,175 (GRCm39) E1760G probably damaging Het
Pcsk5 C A 19: 17,652,832 (GRCm39) G285W probably damaging Het
Pgpep1l A G 7: 67,886,721 (GRCm39) I196T probably benign Het
Phf14 T C 6: 11,987,611 (GRCm39) M630T probably benign Het
Plod2 T C 9: 92,477,442 (GRCm39) probably benign Het
Poldip2 G A 11: 78,403,162 (GRCm39) A9T probably benign Het
Pou2f1 A G 1: 165,703,396 (GRCm39) S718P probably damaging Het
Pramel34 G A 5: 93,786,503 (GRCm39) P89S possibly damaging Het
Ptpre A T 7: 135,269,296 (GRCm39) Y246F probably damaging Het
Pudp T C 18: 50,701,403 (GRCm39) H110R probably benign Het
Scaf4 C T 16: 90,042,403 (GRCm39) G646E unknown Het
Sec16a T A 2: 26,318,149 (GRCm39) probably benign Het
Serpina5 A G 12: 104,070,116 (GRCm39) T338A probably benign Het
Shisa5 T G 9: 108,885,080 (GRCm39) F118V probably damaging Het
Slc6a21 G A 7: 44,936,061 (GRCm39) probably benign Het
Sprtn T A 8: 125,630,126 (GRCm39) V473E probably benign Het
Styxl1 A G 5: 135,787,996 (GRCm39) I165T probably damaging Het
Tas2r134 T C 2: 51,517,839 (GRCm39) I106T probably damaging Het
Tmem259 G A 10: 79,814,973 (GRCm39) T217I probably damaging Het
Trpc6 T C 9: 8,655,339 (GRCm39) I723T probably damaging Het
Vmn1r211 A T 13: 23,036,418 (GRCm39) V83D probably damaging Het
Vmn2r103 G T 17: 20,032,510 (GRCm39) M761I probably benign Het
Ybey A T 10: 76,304,160 (GRCm39) I14N probably damaging Het
Other mutations in Tal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02525:Tal2 APN 4 53,785,971 (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
R3411:Tal2 UTSW 4 53,785,843 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16