Incidental Mutation 'R1490:Dlx3'
ID 163666
Institutional Source Beutler Lab
Gene Symbol Dlx3
Ensembl Gene ENSMUSG00000001510
Gene Name distal-less homeobox 3
Synonyms Dlx-3
MMRRC Submission 039542-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1490 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 95010945-95016122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95011430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 95 (Y95H)
Ref Sequence ENSEMBL: ENSMUSP00000090443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092768]
AlphaFold Q64205
Predicted Effect probably benign
Transcript: ENSMUST00000092768
AA Change: Y95H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000090443
Gene: ENSMUSG00000001510
AA Change: Y95H

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
Pfam:DLL_N 27 107 1.4e-30 PFAM
HOX 129 191 7.65e-23 SMART
low complexity region 224 244 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die at embryonic day 9.5-10.0 with defects in the labyrinthine trophoblast of the chorioallantoic placenta. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 G A 10: 83,356,234 (GRCm39) T52I probably damaging Het
Arhgef28 G A 13: 98,114,952 (GRCm39) R633W probably damaging Het
Atg9a T C 1: 75,162,389 (GRCm39) N507S possibly damaging Het
Bsn A G 9: 107,991,193 (GRCm39) S1520P probably benign Het
Cacul1 G T 19: 60,568,837 (GRCm39) A107E probably damaging Het
Cd74 A G 18: 60,944,438 (GRCm39) D216G probably damaging Het
Cdh16 A T 8: 105,348,702 (GRCm39) W109R probably damaging Het
Cdip1 C T 16: 4,586,775 (GRCm39) V100I probably damaging Het
Ceacam3 A G 7: 16,897,071 (GRCm39) D679G probably damaging Het
Comp A G 8: 70,826,563 (GRCm39) D46G possibly damaging Het
Dmrta2 T C 4: 109,837,072 (GRCm39) S5P unknown Het
E130308A19Rik A G 4: 59,719,746 (GRCm39) Y426C probably damaging Het
Entpd3 A G 9: 120,383,225 (GRCm39) S87G probably benign Het
Eps8l1 A G 7: 4,473,888 (GRCm39) R232G probably damaging Het
Gart A T 16: 91,421,232 (GRCm39) V812D probably damaging Het
Gm10153 C T 7: 141,743,879 (GRCm39) C83Y unknown Het
Gpd2 T C 2: 57,245,487 (GRCm39) V394A probably damaging Het
Hpcal1 A T 12: 17,836,225 (GRCm39) E18D probably benign Het
Mdga2 T C 12: 66,844,530 (GRCm39) D156G probably benign Het
Mks1 A G 11: 87,753,595 (GRCm39) K510E probably benign Het
Ms4a19 A G 19: 11,118,902 (GRCm39) I69T probably benign Het
Mtmr4 G A 11: 87,503,051 (GRCm39) R1035Q probably damaging Het
Myh6 T A 14: 55,200,175 (GRCm39) K235* probably null Het
Nedd1 A G 10: 92,536,660 (GRCm39) F214S probably damaging Het
Or1e32 A G 11: 73,705,197 (GRCm39) V237A possibly damaging Het
Or1o3 A G 17: 37,573,733 (GRCm39) M274T probably benign Het
Or2l13 T C 16: 19,305,672 (GRCm39) M28T probably benign Het
Or52e15 A G 7: 104,645,700 (GRCm39) I137T possibly damaging Het
Pfkfb2 A C 1: 130,625,626 (GRCm39) probably null Het
Pfkfb4 T C 9: 108,856,688 (GRCm39) L398P probably damaging Het
Pfn3 T G 13: 55,562,732 (GRCm39) D83A probably damaging Het
Pi4ka C A 16: 17,204,132 (GRCm39) W54L probably damaging Het
Ppp3r1 A G 11: 17,148,275 (GRCm39) D161G probably benign Het
Prrc2a A G 17: 35,372,230 (GRCm39) S1757P probably benign Het
Samd7 A G 3: 30,812,502 (GRCm39) E314G probably benign Het
Slc17a4 A G 13: 24,088,736 (GRCm39) I217T probably benign Het
Slc22a1 A T 17: 12,881,780 (GRCm39) probably null Het
Slc7a7 C T 14: 54,646,103 (GRCm39) R120H probably damaging Het
Sos1 A T 17: 80,721,104 (GRCm39) H905Q probably benign Het
Thada G A 17: 84,754,029 (GRCm39) T314I possibly damaging Het
Tirap ACTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTG 9: 35,100,362 (GRCm39) probably benign Het
Tlr11 A C 14: 50,600,633 (GRCm39) H873P probably benign Het
Tlr4 A T 4: 66,757,611 (GRCm39) T135S possibly damaging Het
Tmem116 T C 5: 121,633,174 (GRCm39) S183P probably damaging Het
Tubgcp3 A T 8: 12,689,550 (GRCm39) I572K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a C T 1: 188,092,038 (GRCm39) T523I probably benign Het
Usp40 G A 1: 87,916,687 (GRCm39) Q364* probably null Het
Vmn1r61 T C 7: 5,614,242 (GRCm39) Q24R probably benign Het
Wdfy4 C A 14: 32,874,495 (GRCm39) probably null Het
Zfp458 G A 13: 67,405,573 (GRCm39) P286S probably damaging Het
Zfp68 A T 5: 138,605,091 (GRCm39) C373S probably benign Het
Zfp768 T A 7: 126,942,803 (GRCm39) I442F probably damaging Het
Zfp990 A G 4: 145,263,853 (GRCm39) R284G probably benign Het
Other mutations in Dlx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Dlx3 APN 11 95,011,359 (GRCm39) missense probably damaging 1.00
IGL02212:Dlx3 APN 11 95,011,467 (GRCm39) missense probably benign 0.29
IGL02720:Dlx3 APN 11 95,014,470 (GRCm39) missense possibly damaging 0.73
R5362:Dlx3 UTSW 11 95,011,326 (GRCm39) missense possibly damaging 0.61
R7297:Dlx3 UTSW 11 95,011,276 (GRCm39) nonsense probably null
R7375:Dlx3 UTSW 11 95,011,461 (GRCm39) missense possibly damaging 0.79
R8696:Dlx3 UTSW 11 95,012,596 (GRCm39) nonsense probably null
R8967:Dlx3 UTSW 11 95,014,577 (GRCm39) missense probably damaging 1.00
R9428:Dlx3 UTSW 11 95,011,430 (GRCm39) missense probably benign 0.12
Z1177:Dlx3 UTSW 11 95,011,218 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TCACTGACCTGGGCTATTACAGCG -3'
(R):5'- TTCCCCTGACGGCATCCAAAAG -3'

Sequencing Primer
(F):5'- GCTCCTCAGCATGACTACTAC -3'
(R):5'- TGCCCTGGAATCTCCAAGAG -3'
Posted On 2014-03-28