Incidental Mutation 'R4889:Tlx1'
ID 377220
Institutional Source Beutler Lab
Gene Symbol Tlx1
Ensembl Gene ENSMUSG00000025215
Gene Name T cell leukemia, homeobox 1
Synonyms Hox11, Hox-11
MMRRC Submission 042494-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4889 (G1)
Quality Score 124
Status Validated
Chromosome 19
Chromosomal Location 45139119-45145382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45139418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 22 (D22Y)
Ref Sequence ENSEMBL: ENSMUSP00000026236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026236] [ENSMUST00000174617]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026236
AA Change: D22Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026236
Gene: ENSMUSG00000025215
AA Change: D22Y

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 benign
Transcript: ENSMUST00000174617
SMART Domains Protein: ENSMUSP00000133627
Gene: ENSMUSG00000025215

DomainStartEndE-ValueType
Pfam:Homeobox 1 19 6.3e-8 PFAM
Meta Mutation Damage Score 0.5569 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (59/60)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ado G C 10: 67,384,135 (GRCm39) R157G probably benign Het
Akap12 C A 10: 4,306,535 (GRCm39) A1115E probably damaging Het
Ankhd1 A G 18: 36,711,787 (GRCm39) M196V probably null Het
Appl2 G A 10: 83,476,922 (GRCm39) T34I probably damaging Het
Arhgap21 T C 2: 20,885,279 (GRCm39) S472G probably benign Het
Asmt G T X: 169,110,764 (GRCm39) R250L possibly damaging Het
Baz2b A T 2: 59,767,070 (GRCm39) I870N probably damaging Het
Card11 T C 5: 140,871,700 (GRCm39) Q667R possibly damaging Het
Cercam A G 2: 29,771,845 (GRCm39) D555G probably damaging Het
Cop1 A T 1: 159,112,159 (GRCm39) R284S probably damaging Het
Cr2 A G 1: 194,858,893 (GRCm39) V9A possibly damaging Het
Ctsm A G 13: 61,686,215 (GRCm39) F106S probably damaging Het
Dhx9 A T 1: 153,356,895 (GRCm39) L118Q probably damaging Het
Dnah5 G T 15: 28,235,938 (GRCm39) C355F probably benign Het
Dock1 C A 7: 134,346,705 (GRCm39) N212K probably benign Het
Efemp2 T A 19: 5,525,148 (GRCm39) L18Q probably null Het
Flvcr1 A G 1: 190,757,764 (GRCm39) L176P probably damaging Het
Gm16505 A T 13: 3,411,125 (GRCm39) noncoding transcript Het
Gm6457 A T 18: 14,703,501 (GRCm39) noncoding transcript Het
Gnptab A G 10: 88,269,775 (GRCm39) N826S probably benign Het
Hdc T G 2: 126,436,053 (GRCm39) N606T probably benign Het
Itga3 T C 11: 94,959,127 (GRCm39) D113G probably benign Het
Maml3 C T 3: 51,601,931 (GRCm39) probably benign Het
Mkrn1 A T 6: 39,396,939 (GRCm39) probably benign Het
Myo18a T C 11: 77,723,238 (GRCm39) V720A probably damaging Het
Nkx3-1 G A 14: 69,428,447 (GRCm39) probably null Het
Npat T C 9: 53,473,507 (GRCm39) I433T probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or10ag53 A T 2: 87,082,991 (GRCm39) I237F probably damaging Het
Or1l4 A G 2: 37,092,057 (GRCm39) Y268C probably damaging Het
Or5m12 C T 2: 85,735,092 (GRCm39) C102Y possibly damaging Het
Pde6c T A 19: 38,121,599 (GRCm39) M69K probably benign Het
Pde7b T C 10: 20,423,823 (GRCm39) T18A probably benign Het
Plcz1 T C 6: 139,953,474 (GRCm39) K381R probably benign Het
Ppfia4 A C 1: 134,228,252 (GRCm39) F1095V probably damaging Het
Sfxn3 T C 19: 45,038,254 (GRCm39) F78S probably damaging Het
Sim1 A T 10: 50,857,420 (GRCm39) Y390F probably benign Het
Slc25a31 A G 3: 40,675,975 (GRCm39) I174V probably benign Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slco1b2 T G 6: 141,602,469 (GRCm39) probably benign Het
Smarca5 C A 8: 81,431,326 (GRCm39) D964Y possibly damaging Het
Sptbn2 T A 19: 4,779,458 (GRCm39) S338R possibly damaging Het
Srcap T C 7: 127,137,719 (GRCm39) V1023A possibly damaging Het
Syt16 A G 12: 74,176,269 (GRCm39) E46G probably damaging Het
Tas2r114 A T 6: 131,666,758 (GRCm39) I90K probably damaging Het
Vamp8 G A 6: 72,362,522 (GRCm39) L93F possibly damaging Het
Vill T C 9: 118,892,409 (GRCm39) S347P possibly damaging Het
Zfp974 A G 7: 27,610,244 (GRCm39) Y494H 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
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
R8736:Tlx1 UTSW 19 45,141,975 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TTCGCCTTCAAGTCTCAGCG -3'
(R):5'- CATGTTCACGTTGTAGGAGCC -3'

Sequencing Primer
(F):5'- TAGTCCAGCGCAGCGATc -3'
(R):5'- TTGTAGGAGCCGGGCAG -3'
Posted On 2016-03-17