Incidental Mutation 'R8736:Tlx1'
ID 663056
Institutional Source Beutler Lab
Gene Symbol Tlx1
Ensembl Gene ENSMUSG00000025215
Gene Name T cell leukemia, homeobox 1
Synonyms Hox11, Hox-11
MMRRC Submission 068617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8736 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 45139119-45145382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45141975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 200 (T200A)
Ref Sequence ENSEMBL: ENSMUSP00000026236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026236] [ENSMUST00000174617]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026236
AA Change: T200A

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026236
Gene: ENSMUSG00000025215
AA Change: T200A

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
low complexity region 52 92 N/A INTRINSIC
low complexity region 107 133 N/A INTRINSIC
HOX 204 266 1.81e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174617
SMART Domains Protein: ENSMUSP00000133627
Gene: ENSMUSG00000025215

DomainStartEndE-ValueType
Pfam:Homeobox 1 19 6.3e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.8%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous mutant embryos show cellular disorganization at the site of splenic development and never develop a spleen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bltp2 T A 11: 78,178,875 (GRCm39) S2047T probably benign Het
Ccdc125 T C 13: 100,815,833 (GRCm39) S100P possibly damaging Het
Ccnl1 T C 3: 65,865,447 (GRCm39) T35A unknown Het
Cul2 T A 18: 3,434,019 (GRCm39) V672E probably damaging Het
Cyb5a C A 18: 84,869,560 (GRCm39) probably benign Het
Ddhd1 T A 14: 45,836,642 (GRCm39) Y831F probably benign Het
Ddr1 A G 17: 35,995,104 (GRCm39) I698T probably damaging Het
Elovl7 A T 13: 108,393,320 (GRCm39) I18F probably benign Het
Fcgbp G T 7: 27,805,621 (GRCm39) V1967L probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gtf2h3 A G 5: 124,728,972 (GRCm39) N177S probably damaging Het
Krt6b A G 15: 101,587,047 (GRCm39) Y242H probably damaging Het
Mab21l2 C A 3: 86,454,607 (GRCm39) R131L probably damaging Het
Maml1 T C 11: 50,148,726 (GRCm39) T1005A possibly damaging Het
Mapk4 T C 18: 74,103,396 (GRCm39) T38A probably benign Het
Mapkapk5 G A 5: 121,665,241 (GRCm39) A338V possibly damaging Het
Morc2a C A 11: 3,631,737 (GRCm39) T556K probably damaging Het
Muc16 G A 9: 18,462,139 (GRCm39) Q7459* probably null Het
Muc6 T C 7: 141,228,439 (GRCm39) T1256A possibly damaging Het
Or1e21 T A 11: 73,344,384 (GRCm39) Y218F probably damaging Het
Or4b12 A G 2: 90,095,922 (GRCm39) V284A possibly damaging Het
Or5a1 A G 19: 12,097,309 (GRCm39) C256R probably damaging Het
Or7g20 G T 9: 18,946,774 (GRCm39) M118I probably damaging Het
Or9i14 T C 19: 13,792,358 (GRCm39) I199V probably benign Het
Or9s18 T G 13: 65,300,538 (GRCm39) C167G probably damaging Het
Pik3c2a A G 7: 115,975,464 (GRCm39) V701A possibly damaging Het
Plxnb2 A T 15: 89,046,261 (GRCm39) I918N probably damaging Het
Pms1 T C 1: 53,307,053 (GRCm39) S118G possibly damaging Het
Ppp1r18 A G 17: 36,184,711 (GRCm39) T549A probably benign Het
Rap1gds1 T C 3: 138,647,512 (GRCm39) I559V probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Usp1 A G 4: 98,821,105 (GRCm39) I488V probably damaging Het
Vmn2r6 T A 3: 64,467,221 (GRCm39) M93L probably damaging Het
Zfp870 A T 17: 33,104,966 (GRCm39) V31E possibly damaging Het
Other mutations in Tlx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
vent UTSW 19 45,144,460 (GRCm39) missense probably damaging 1.00
R1703:Tlx1 UTSW 19 45,144,443 (GRCm39) missense possibly damaging 0.95
R4889:Tlx1 UTSW 19 45,139,418 (GRCm39) missense probably damaging 1.00
R4985:Tlx1 UTSW 19 45,139,421 (GRCm39) missense possibly damaging 0.94
R5078:Tlx1 UTSW 19 45,144,460 (GRCm39) missense probably damaging 1.00
R6025:Tlx1 UTSW 19 45,144,413 (GRCm39) missense probably damaging 0.99
R6396:Tlx1 UTSW 19 45,144,491 (GRCm39) missense probably damaging 0.99
R6891:Tlx1 UTSW 19 45,139,757 (GRCm39) missense probably damaging 1.00
R7163:Tlx1 UTSW 19 45,139,655 (GRCm39) missense probably damaging 0.99
R7856:Tlx1 UTSW 19 45,144,427 (GRCm39) nonsense probably null
R8443:Tlx1 UTSW 19 45,142,036 (GRCm39) missense probably damaging 1.00
R8530:Tlx1 UTSW 19 45,139,524 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CACTGCCTTGCTTTTAGGGG -3'
(R):5'- TCGTCTAAACCGATCGGAAAC -3'

Sequencing Primer
(F):5'- CTTTTAGGGGGTACAGCCAG -3'
(R):5'- TGCGTGCAACCCGAGAGAG -3'
Posted On 2021-03-08