Incidental Mutation 'R6342:Tlx3'
ID 513924
Institutional Source Beutler Lab
Gene Symbol Tlx3
Ensembl Gene ENSMUSG00000040610
Gene Name T cell leukemia, homeobox 3
Synonyms Tlx1l2, Hox11l2, Rnx
MMRRC Submission 044496-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6342 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 33150752-33153589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33152567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 176 (V176E)
Ref Sequence ENSEMBL: ENSMUSP00000047457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037746]
AlphaFold O55144
Predicted Effect possibly damaging
Transcript: ENSMUST00000037746
AA Change: V176E

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047457
Gene: ENSMUSG00000040610
AA Change: V176E

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 0.1118 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 97% (31/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa9 T C 3: 95,204,101 (GRCm39) *346W probably null Het
Ap4b1 T C 3: 103,720,684 (GRCm39) V118A possibly damaging Het
Atrnl1 T C 19: 57,626,942 (GRCm39) S183P probably damaging Het
Cadm3 T C 1: 173,168,675 (GRCm39) T298A possibly damaging Het
Crtc1 A C 8: 70,892,207 (GRCm39) M1R probably null Het
Dalrd3 A T 9: 108,448,322 (GRCm39) K291* probably null Het
Dhrs9 C T 2: 69,223,531 (GRCm39) T93M probably benign Het
Dnmt1 G T 9: 20,821,089 (GRCm39) S1267* probably null Het
Dsg1b T C 18: 20,523,300 (GRCm39) I109T probably damaging Het
Epha3 C A 16: 63,403,863 (GRCm39) R745L probably damaging Het
Evi2 A G 11: 79,406,784 (GRCm39) S264P probably benign Het
Grin2a A T 16: 9,397,198 (GRCm39) L963Q probably damaging Het
Klhdc7a T A 4: 139,694,370 (GRCm39) R192S probably benign Het
Kynu G T 2: 43,571,463 (GRCm39) D460Y probably benign Het
Lrfn2 G A 17: 49,404,028 (GRCm39) G717D probably benign Het
Lrp3 C T 7: 34,901,731 (GRCm39) D696N probably benign Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or51a5 T C 7: 102,771,563 (GRCm39) T143A probably damaging Het
Rad17 A T 13: 100,755,644 (GRCm39) I579N probably damaging Het
Rif1 T A 2: 52,009,168 (GRCm39) Y2316N probably damaging Het
Ros1 T A 10: 52,031,351 (GRCm39) D430V probably damaging Het
Rp9 A T 9: 22,361,154 (GRCm39) H44Q probably damaging Het
Rtl1 T C 12: 109,558,735 (GRCm39) T1035A possibly damaging Het
Slc2a5 A C 4: 150,223,983 (GRCm39) D225A possibly damaging Het
Trpv3 G A 11: 73,174,689 (GRCm39) G352D probably damaging Het
Ubr4 C A 4: 139,156,850 (GRCm39) H2292N possibly damaging Het
Wee2 A G 6: 40,421,189 (GRCm39) H93R probably benign Het
Xirp2 T G 2: 67,341,994 (GRCm39) L1412V possibly damaging Het
Zfat T C 15: 68,052,831 (GRCm39) H321R probably damaging Het
Zfp623 C A 15: 75,819,837 (GRCm39) C264* probably null Het
Zfp687 G C 3: 94,919,188 (GRCm39) P195A probably benign 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
R0866:Tlx3 UTSW 11 33,153,315 (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
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'- AAGGGCGATGCATGGTCC -3'
(R):5'- CTGCCTGGCTTGAAGCTG -3'

Sequencing Primer
(F):5'- GCGTGATGCTGGACTGC -3'
(R):5'- CTGGCTTGAAGCTGCGGAG -3'
Posted On 2018-04-27