Incidental Mutation 'R9167:Tlx2'
ID 696125
Institutional Source Beutler Lab
Gene Symbol Tlx2
Ensembl Gene ENSMUSG00000068327
Gene Name T cell leukemia, homeobox 2
Synonyms Enx, NCX, Tlx1l1, Ncx1, Hox11L.1, Hox11l1
MMRRC Submission 068946-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R9167 (G1)
Quality Score 125.008
Status Validated
Chromosome 6
Chromosomal Location 83045306-83047206 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 83046042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 211 (K211*)
Ref Sequence ENSEMBL: ENSMUSP00000087069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077502] [ENSMUST00000089641] [ENSMUST00000174674]
AlphaFold Q61663
Predicted Effect probably benign
Transcript: ENSMUST00000077502
SMART Domains Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DEXDc 30 236 5.01e-4 SMART
low complexity region 268 280 N/A INTRINSIC
low complexity region 288 301 N/A INTRINSIC
HA2 441 530 4e-19 SMART
Pfam:OB_NTP_bind 555 674 2.2e-11 PFAM
low complexity region 695 708 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000089641
AA Change: K211*
SMART Domains Protein: ENSMUSP00000087069
Gene: ENSMUSG00000068327
AA Change: K211*

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 25 61 N/A INTRINSIC
low complexity region 82 116 N/A INTRINSIC
HOX 157 219 1.66e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000174674
AA Change: K211*
SMART Domains Protein: ENSMUSP00000133420
Gene: ENSMUSG00000068327
AA Change: K211*

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 25 61 N/A INTRINSIC
low complexity region 82 116 N/A INTRINSIC
HOX 157 213 2.43e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for two targeted null mutations exhibit megacolon with hyperinnervated enteric ganglia which undergo neuronal degeneration. Homozygotes for a third null mutation die in utero with defects in formation of the primitive streak and mesoderm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C A 11: 119,901,952 (GRCm39) V815F possibly damaging Het
Abcb4 T A 5: 8,986,849 (GRCm39) L756* probably null Het
Acrbp T C 6: 125,039,942 (GRCm39) L515P probably damaging Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Atic T A 1: 71,604,040 (GRCm39) I201N probably benign Het
Avpr1b T C 1: 131,537,151 (GRCm39) S312P probably damaging Het
Cables1 T C 18: 12,039,029 (GRCm39) V314A possibly damaging Het
Cd22 G A 7: 30,575,430 (GRCm39) T204I probably benign Het
Cep250 A G 2: 155,828,920 (GRCm39) N95D Het
Ctla4 C T 1: 60,951,695 (GRCm39) R75W probably damaging Het
Cul7 A G 17: 46,966,623 (GRCm39) M649V probably benign Het
Ddx46 T A 13: 55,802,915 (GRCm39) V479E probably null Het
Dnah7a T C 1: 53,657,370 (GRCm39) N802S probably benign Het
Fmn2 G T 1: 174,331,056 (GRCm39) R482L unknown Het
Fyn T G 10: 39,402,811 (GRCm39) D194E probably benign Het
Hdac4 G A 1: 91,875,256 (GRCm39) T905M probably benign Het
Herc1 A G 9: 66,411,900 (GRCm39) I4707V possibly damaging Het
Hmgcs2 T C 3: 98,204,430 (GRCm39) I277T possibly damaging Het
Kcnj15 A G 16: 95,096,741 (GRCm39) D121G probably damaging Het
Kcnt2 A G 1: 140,506,200 (GRCm39) E899G probably benign Het
Kif16b A T 2: 142,542,840 (GRCm39) L152* probably null Het
Krt73 A G 15: 101,702,405 (GRCm39) V486A probably benign Het
Lrrc37a T A 11: 103,347,658 (GRCm39) K3012N unknown Het
Musk A T 4: 58,296,687 (GRCm39) I96F probably benign Het
Myrfl A G 10: 116,667,450 (GRCm39) V330A probably damaging Het
Nanp A T 2: 150,872,728 (GRCm39) C67S probably benign Het
Nlrp4e A G 7: 23,039,951 (GRCm39) N758S probably benign Het
Nrxn3 T A 12: 89,154,068 (GRCm39) V345D probably damaging Het
Nsun7 G A 5: 66,435,994 (GRCm39) V289I possibly damaging Het
Or52d1 A G 7: 103,756,426 (GRCm39) *313W probably null Het
Pde4a T C 9: 21,102,798 (GRCm39) S161P probably benign Het
Pom121l2 C T 13: 22,167,160 (GRCm39) A477V probably damaging Het
Rest GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC 5: 77,429,651 (GRCm39) probably benign Het
Ryr3 A T 2: 112,664,398 (GRCm39) I1651N probably damaging Het
Serpinb6e A G 13: 34,023,009 (GRCm39) F125L possibly damaging Het
Slc2a9 T A 5: 38,549,092 (GRCm39) T341S probably damaging Het
Taf3 A G 2: 9,945,804 (GRCm39) V600A probably benign Het
Tasor2 A G 13: 3,624,724 (GRCm39) V1742A probably benign Het
Tmem266 A G 9: 55,322,231 (GRCm39) D174G probably damaging Het
Tpm3 T A 3: 89,994,824 (GRCm39) I147N probably benign Het
Unc93a T C 17: 13,335,108 (GRCm39) K313E possibly damaging Het
Vmn1r9 A C 6: 57,048,138 (GRCm39) E71A probably benign Het
Vwa2 T A 19: 56,899,063 (GRCm39) D754E probably benign Het
Zfp677 T C 17: 21,613,460 (GRCm39) V18A probably damaging Het
Other mutations in Tlx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4604:Tlx2 UTSW 6 83,045,741 (GRCm39) makesense probably null
R4757:Tlx2 UTSW 6 83,046,900 (GRCm39) missense probably benign 0.01
R5226:Tlx2 UTSW 6 83,045,911 (GRCm39) missense possibly damaging 0.52
R5670:Tlx2 UTSW 6 83,046,807 (GRCm39) missense possibly damaging 0.85
R9257:Tlx2 UTSW 6 83,047,035 (GRCm39) missense unknown
R9786:Tlx2 UTSW 6 83,046,274 (GRCm39) critical splice acceptor site probably null
Z1177:Tlx2 UTSW 6 83,046,203 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- AGATTCTGCAGCGCGAAGAG -3'
(R):5'- TCAGTCTCACCTCGGACTAC -3'

Sequencing Primer
(F):5'- CGAGTTGTGCAGGCAAAGC -3'
(R):5'- GACACGTCGCATAGGCCATC -3'
Posted On 2022-02-07