Incidental Mutation 'R0866:Tlx3'
ID 82357
Institutional Source Beutler Lab
Gene Symbol Tlx3
Ensembl Gene ENSMUSG00000040610
Gene Name T cell leukemia, homeobox 3
Synonyms Tlx1l2, Hox11l2, Rnx
MMRRC Submission 039040-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0866 (G1)
Quality Score 113
Status Validated
Chromosome 11
Chromosomal Location 33150752-33153589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 33153315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 49 (G49W)
Ref Sequence ENSEMBL: ENSMUSP00000047457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037746]
AlphaFold O55144
Predicted Effect probably damaging
Transcript: ENSMUST00000037746
AA Change: G49W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047457
Gene: ENSMUSG00000040610
AA Change: G49W

DomainStartEndE-ValueType
low complexity region 45 53 N/A INTRINSIC
low complexity region 95 115 N/A INTRINSIC
HOX 166 228 1.37e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131851
Meta Mutation Damage Score 0.0722 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an orphan homeobox protein that encodes a DNA-binding nuclear transcription factor. A translocation [t(5;14)(q35;q32)] involving this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) in children and young adults. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice die within 1 day of birth due to a central respiratory failure that resembles human congenital central hypoventilation syndrome. Mice homozygous for an ENU-induced allele exhibit uncoordinated movements. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik G T 6: 131,529,742 (GRCm39) R112L unknown Het
Abcd4 G T 12: 84,658,507 (GRCm39) A232E probably damaging Het
Acsm5 T A 7: 119,140,123 (GRCm39) I508N probably damaging Het
Adam22 T C 5: 8,132,156 (GRCm39) Q263R probably damaging Het
Ccdc88c A G 12: 100,879,451 (GRCm39) L1890P probably benign Het
Ckap4 C T 10: 84,363,384 (GRCm39) D560N probably damaging Het
Crb3 T A 17: 57,369,743 (GRCm39) L17Q probably damaging Het
Fbxo21 G T 5: 118,115,098 (GRCm39) R78L probably benign Het
Gapvd1 A T 2: 34,599,229 (GRCm39) C669S probably damaging Het
Gria2 A T 3: 80,629,331 (GRCm39) probably benign Het
H2-M11 T C 17: 36,859,829 (GRCm39) L274P probably benign Het
Hmox1 A G 8: 75,823,931 (GRCm39) T200A probably benign Het
Hspa8 G A 9: 40,713,920 (GRCm39) probably null Het
Isy1 C A 6: 87,796,094 (GRCm39) R281L probably benign Het
Kiz C A 2: 146,697,973 (GRCm39) probably benign Het
Lrig2 T C 3: 104,371,591 (GRCm39) K704R probably benign Het
Lrp1 A T 10: 127,375,147 (GRCm39) D4484E probably damaging Het
Lrrc7 C A 3: 157,869,903 (GRCm39) probably benign Het
Mtmr14 T C 6: 113,216,543 (GRCm39) probably null Het
Mtmr3 A T 11: 4,438,474 (GRCm39) V660E probably benign Het
Mtor T C 4: 148,570,513 (GRCm39) I1190T probably benign Het
Mtrf1l T C 10: 5,763,376 (GRCm39) R318G probably damaging Het
Myh7 T C 14: 55,210,596 (GRCm39) T1739A probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or5h18 C T 16: 58,847,791 (GRCm39) V160I probably benign Het
Pcca A G 14: 123,126,957 (GRCm39) E722G possibly damaging Het
Pds5b T A 5: 150,662,656 (GRCm39) probably benign Het
Ralgapa2 A T 2: 146,277,923 (GRCm39) F413I probably damaging Het
Rbbp9 T C 2: 144,392,628 (GRCm39) Y24C probably damaging Het
Rgs2 A G 1: 143,877,988 (GRCm39) S103P probably damaging Het
Rtn1 G T 12: 72,355,156 (GRCm39) Y263* probably null Het
Slc22a1 T C 17: 12,875,933 (GRCm39) E427G probably benign Het
Speg A G 1: 75,393,727 (GRCm39) T1695A probably damaging Het
Tor1b A G 2: 30,846,928 (GRCm39) M292V probably benign Het
Tspyl3 A T 2: 153,066,854 (GRCm39) L128Q probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfc3h1 G A 10: 115,263,621 (GRCm39) V1821I probably benign Het
Zfhx4 A T 3: 5,477,272 (GRCm39) T3271S possibly damaging Het
Zfp386 G T 12: 116,018,329 (GRCm39) probably benign Het
Zfp574 A T 7: 24,779,323 (GRCm39) K115M probably damaging Het
Other mutations in Tlx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB007:Tlx3 UTSW 11 33,153,058 (GRCm39) missense probably damaging 0.99
BB017:Tlx3 UTSW 11 33,153,058 (GRCm39) missense probably damaging 0.99
R1899:Tlx3 UTSW 11 33,153,072 (GRCm39) missense probably benign 0.30
R6228:Tlx3 UTSW 11 33,152,432 (GRCm39) missense probably benign 0.13
R6342:Tlx3 UTSW 11 33,152,567 (GRCm39) missense possibly damaging 0.67
R7067:Tlx3 UTSW 11 33,153,204 (GRCm39) missense probably damaging 1.00
R7290:Tlx3 UTSW 11 33,153,514 (GRCm39) start gained probably benign
R7930:Tlx3 UTSW 11 33,153,058 (GRCm39) missense probably damaging 0.99
R8055:Tlx3 UTSW 11 33,151,283 (GRCm39) missense probably damaging 1.00
Z1176:Tlx3 UTSW 11 33,153,261 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- TTACAAAGCGGCGACTGCTCTC -3'
(R):5'- CTCTTGGCAAAGTTTCAGTGCGAC -3'

Sequencing Primer
(F):5'- CTCTCCATCCAGGGGAAATTGAG -3'
(R):5'- TTCAGTGCGACTGGAGGC -3'
Posted On 2013-11-08