Incidental Mutation 'R5078:Tlx1'
ID 386994
Institutional Source Beutler Lab
Gene Symbol Tlx1
Ensembl Gene ENSMUSG00000025215
Gene Name T cell leukemia, homeobox 1
Synonyms Hox11, Hox-11
MMRRC Submission 042667-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5078 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 45139119-45145382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45144460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 61 (N61Y)
Ref Sequence ENSEMBL: ENSMUSP00000133627 (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: N303Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026236
Gene: ENSMUSG00000025215
AA Change: N303Y

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: N61Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133627
Gene: ENSMUSG00000025215
AA Change: N61Y

DomainStartEndE-ValueType
Pfam:Homeobox 1 19 6.3e-8 PFAM
Meta Mutation Damage Score 0.1858 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (53/53)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 T C 16: 4,141,771 (GRCm39) S345G probably benign Het
Adgrf2 A T 17: 43,021,877 (GRCm39) F316I probably damaging Het
Ank2 A G 3: 126,736,002 (GRCm39) probably benign Het
Auts2 T C 5: 132,287,786 (GRCm39) K66E possibly damaging Het
Bicra T C 7: 15,709,382 (GRCm39) D1144G probably damaging Het
Cabin1 A G 10: 75,557,312 (GRCm39) S1109P probably damaging Het
Camkv T C 9: 107,822,572 (GRCm39) V29A probably damaging Het
Ccdc178 A T 18: 22,200,685 (GRCm39) probably null Het
Ccser1 G A 6: 61,288,350 (GRCm39) R171H probably damaging Het
Cdk19 A G 10: 40,312,150 (GRCm39) Y133C probably damaging Het
Cerkl T A 2: 79,223,352 (GRCm39) D123V probably benign Het
Chd1 T C 17: 15,946,616 (GRCm39) S121P possibly damaging Het
Col4a2 T C 8: 11,493,936 (GRCm39) V1459A probably benign Het
Dlg1 T A 16: 31,675,287 (GRCm39) Y704* probably null Het
Dsg2 T C 18: 20,729,140 (GRCm39) probably null Het
Egln3 T C 12: 54,228,453 (GRCm39) R218G probably damaging Het
Gm11568 T C 11: 99,749,181 (GRCm39) C129R unknown Het
Gm13991 T C 2: 116,358,355 (GRCm39) noncoding transcript Het
Gmnc C A 16: 26,784,332 (GRCm39) V58L probably benign Het
Gpx5 A G 13: 21,472,881 (GRCm39) F151S probably damaging Het
Helz G A 11: 107,546,922 (GRCm39) G1079R probably damaging Het
Ice1 T C 13: 70,752,969 (GRCm39) E1039G probably benign Het
Kif18a T C 2: 109,125,487 (GRCm39) probably benign Het
Klhl29 T C 12: 5,143,530 (GRCm39) T500A possibly damaging Het
Lrfn5 A C 12: 61,890,660 (GRCm39) K650Q possibly damaging Het
Lrp2 T C 2: 69,331,874 (GRCm39) D1627G possibly damaging Het
Nxn T C 11: 76,152,433 (GRCm39) K354E probably damaging Het
Or5d20-ps1 T A 2: 87,931,879 (GRCm39) I151L probably benign Het
Pcnx2 T C 8: 126,478,895 (GRCm39) T2118A probably benign Het
Phldb2 A G 16: 45,598,105 (GRCm39) F861L possibly damaging Het
Piezo2 A G 18: 63,157,607 (GRCm39) Y2368H probably damaging Het
Pnp T A 14: 51,188,963 (GRCm39) L252* probably null Het
Prom2 T C 2: 127,373,757 (GRCm39) Q641R probably benign Het
Prpf31 T C 7: 3,637,702 (GRCm39) S180P possibly damaging Het
Prss27 C A 17: 24,263,414 (GRCm39) Y142* probably null Het
Ripk1 T G 13: 34,201,082 (GRCm39) M265R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ropn1 T A 16: 34,487,161 (GRCm39) D32E probably damaging Het
Rps23 T C 13: 91,071,822 (GRCm39) F41L probably benign Het
Sec24d A G 3: 123,084,201 (GRCm39) I127V probably benign Het
Selenot C T 3: 58,492,692 (GRCm39) R60W probably damaging Het
Tll1 T C 8: 64,546,921 (GRCm39) K342E probably damaging Het
Vmn2r117 T A 17: 23,679,122 (GRCm39) I701F probably damaging Het
Zmynd12 A G 4: 119,302,047 (GRCm39) K229E 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
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'- AGGGTTAGAGTCCTGGCTAG -3'
(R):5'- AAGATGTCTCTGCCTGTATCCC -3'

Sequencing Primer
(F):5'- AGAGTCCTGGCTAGTAATTGC -3'
(R):5'- TGGGAGCCTTGCTGAGAAGC -3'
Posted On 2016-06-06