Incidental Mutation 'R6396:Tlx1'
ID 516023
Institutional Source Beutler Lab
Gene Symbol Tlx1
Ensembl Gene ENSMUSG00000025215
Gene Name T cell leukemia, homeobox 1
Synonyms Hox11, Hox-11
MMRRC Submission 044544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6396 (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 45144491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 71 (Q71R)
Ref Sequence ENSEMBL: ENSMUSP00000133627 (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: Q313R

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026236
Gene: ENSMUSG00000025215
AA Change: Q313R

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 noncoding transcript
Transcript: ENSMUST00000173437
Predicted Effect probably damaging
Transcript: ENSMUST00000174617
AA Change: Q71R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133627
Gene: ENSMUSG00000025215
AA Change: Q71R

DomainStartEndE-ValueType
Pfam:Homeobox 1 19 6.3e-8 PFAM
Meta Mutation Damage Score 0.3638 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
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
Arhgap35 A T 7: 16,296,224 (GRCm39) I947K probably damaging Het
B3galnt2 A T 13: 14,170,333 (GRCm39) I447F probably damaging Het
Cacna2d3 C A 14: 29,118,522 (GRCm39) V134L probably benign Het
Clcn4 C T 7: 7,297,024 (GRCm39) G145S probably damaging Het
Cndp1 A T 18: 84,650,135 (GRCm39) M186K probably benign Het
Cntn6 A G 6: 104,627,461 (GRCm39) Y98C probably damaging Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dyrk1a C A 16: 94,472,299 (GRCm39) Q230K probably damaging Het
Ech1 C T 7: 28,529,763 (GRCm39) probably null Het
Fam81b T A 13: 76,399,968 (GRCm39) R97W probably damaging Het
Heatr1 A G 13: 12,420,978 (GRCm39) E423G possibly damaging Het
Hydin A T 8: 111,233,521 (GRCm39) K1786N probably damaging Het
Igf2r T C 17: 12,932,977 (GRCm39) I848M probably benign Het
Igkv10-96 G A 6: 68,608,969 (GRCm39) Q109* probably null Het
Mup6 T C 4: 60,004,837 (GRCm39) I76T possibly damaging Het
Nmt2 A G 2: 3,315,738 (GRCm39) R243G probably benign Het
Nsd1 G A 13: 55,386,602 (GRCm39) G119D probably damaging Het
Or1ad8 A G 11: 50,898,312 (GRCm39) H171R possibly damaging Het
Or4c113 A G 2: 88,885,641 (GRCm39) I43T probably benign Het
Or4c120 T G 2: 89,001,034 (GRCm39) D174A probably damaging Het
Or51ab3 C T 7: 103,201,888 (GRCm39) Q299* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pank3 T C 11: 35,669,516 (GRCm39) V250A probably damaging Het
Pcdh10 A G 3: 45,334,495 (GRCm39) I270V possibly damaging Het
Pnp2 T A 14: 51,200,616 (GRCm39) V94E probably damaging Het
Prdm10 T C 9: 31,229,842 (GRCm39) V86A possibly damaging Het
Resf1 A G 6: 149,229,417 (GRCm39) D821G probably damaging Het
Riox1 G A 12: 83,998,087 (GRCm39) D208N possibly damaging Het
Rrp15 A G 1: 186,469,783 (GRCm39) probably null Het
Skor1 G T 9: 63,052,232 (GRCm39) P579Q probably damaging Het
Slc44a4 T A 17: 35,147,860 (GRCm39) Y481* probably null Het
Smg7 A T 1: 152,724,351 (GRCm39) V610E probably benign Het
Vmn2r27 A T 6: 124,201,125 (GRCm39) Y277* probably null Het
Zswim2 T A 2: 83,754,062 (GRCm39) R199S probably 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
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
R8736:Tlx1 UTSW 19 45,141,975 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AGTCCTGGCTAGTAATTGCTTG -3'
(R):5'- TCCACCGAAGACAGGAAGTG -3'

Sequencing Primer
(F):5'- AGTAATTGCTTGTTCCCCACG -3'
(R):5'- AGTGGAGGCGGTGCTTG -3'
Posted On 2018-05-04