Incidental Mutation 'IGL02212:Dlx3'
ID 285527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlx3
Ensembl Gene ENSMUSG00000001510
Gene Name distal-less homeobox 3
Synonyms Dlx-3
Accession Numbers
Essential gene? Not available question?
Stock # IGL02212
Quality Score
Status
Chromosome 11
Chromosomal Location 95010945-95016122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95011467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 107 (D107G)
Ref Sequence ENSEMBL: ENSMUSP00000090443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092768]
AlphaFold Q64205
Predicted Effect probably benign
Transcript: ENSMUST00000092768
AA Change: D107G

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090443
Gene: ENSMUSG00000001510
AA Change: D107G

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
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,079,233 (GRCm39) D1079V probably damaging Het
Adam18 T C 8: 25,127,195 (GRCm39) H467R probably benign Het
Ambra1 T G 2: 91,747,706 (GRCm39) D1056E probably damaging Het
Aoah A C 13: 21,187,071 (GRCm39) N456T probably benign Het
Batf2 T A 19: 6,221,991 (GRCm39) F267Y probably damaging Het
Bbs7 C T 3: 36,648,558 (GRCm39) V397I probably benign Het
Bbs9 T A 9: 22,723,808 (GRCm39) D824E probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Brip1 A T 11: 86,029,841 (GRCm39) V601E possibly damaging Het
Bub1 A G 2: 127,647,271 (GRCm39) F773L probably damaging Het
Cadps A T 14: 12,522,345 (GRCm38) D606E possibly damaging Het
Cenps T G 4: 149,213,303 (GRCm39) D54A probably damaging Het
Cep170 T A 1: 176,563,502 (GRCm39) N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,748 (GRCm39) V1340A possibly damaging Het
D630003M21Rik A T 2: 158,052,091 (GRCm39) S667T probably benign Het
Defa38 C T 8: 21,585,276 (GRCm39) probably benign Het
Dgkb A G 12: 38,189,413 (GRCm39) Y272C probably damaging Het
Drd3 A T 16: 43,582,675 (GRCm39) N56I probably benign Het
Elavl4 T A 4: 110,063,609 (GRCm39) I331F probably damaging Het
Fam167a T G 14: 63,700,078 (GRCm39) S213A probably damaging Het
Fasn A T 11: 120,698,729 (GRCm39) I2489N probably damaging Het
Fbxo43 T C 15: 36,151,957 (GRCm39) K587E probably damaging Het
Fscn2 A G 11: 120,252,881 (GRCm39) D116G probably damaging Het
Galm T C 17: 80,457,546 (GRCm39) V194A probably benign Het
Gpr180 T A 14: 118,397,588 (GRCm39) F361I probably damaging Het
Gpx2 A T 12: 76,839,682 (GRCm39) C105* probably null Het
Gsdmc2 A T 15: 63,699,911 (GRCm39) probably benign Het
Hes2 T G 4: 152,244,982 (GRCm39) S150R probably damaging Het
Ighv1-56 C T 12: 115,206,417 (GRCm39) probably benign Het
Inhbb A T 1: 119,345,713 (GRCm39) V192D probably benign Het
Itgal A T 7: 126,900,152 (GRCm39) M137L probably benign Het
Jak2 A G 19: 29,265,382 (GRCm39) N470D probably benign Het
Jph1 T C 1: 17,161,981 (GRCm39) E227G probably damaging Het
Kcnj6 A T 16: 94,633,346 (GRCm39) I237N probably damaging Het
Kctd8 G T 5: 69,498,031 (GRCm39) P205Q probably benign Het
Klhdc1 A T 12: 69,297,540 (GRCm39) N37I probably damaging Het
Lrp2 T A 2: 69,281,608 (GRCm39) H3921L probably benign Het
Lrp8os2 T C 4: 107,664,245 (GRCm39) probably benign Het
Man2a2 A C 7: 80,012,056 (GRCm39) D700E probably benign Het
Mast1 A T 8: 85,648,026 (GRCm39) L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Mptx2 T A 1: 173,102,248 (GRCm39) D147V possibly damaging Het
Mrpl9 T A 3: 94,351,124 (GRCm39) probably null Het
Mup21 T G 4: 62,066,829 (GRCm39) E137A probably damaging Het
Mutyh T A 4: 116,672,803 (GRCm39) V52D probably damaging Het
Nalcn T A 14: 123,752,742 (GRCm39) S340C probably damaging Het
Neb A G 2: 52,198,323 (GRCm39) Y474H probably damaging Het
Nol8 A G 13: 49,815,626 (GRCm39) E560G possibly damaging Het
Ntn4 A G 10: 93,480,711 (GRCm39) D145G possibly damaging Het
Nup93 G A 8: 95,038,290 (GRCm39) probably null Het
Or1j17 A G 2: 36,578,194 (GRCm39) Y60C probably damaging Het
Or2n1b C A 17: 38,459,746 (GRCm39) T89K probably benign Het
Or2y14 A T 11: 49,404,737 (GRCm39) I91F probably damaging Het
Or52b2 C T 7: 104,986,350 (GRCm39) C191Y probably damaging Het
Pcdhb8 T A 18: 37,489,465 (GRCm39) V40E possibly damaging Het
Peg3 C T 7: 6,714,415 (GRCm39) R269H probably benign Het
Piwil1 T A 5: 128,827,334 (GRCm39) F648I possibly damaging Het
Psd4 A T 2: 24,295,326 (GRCm39) K827* probably null Het
Retsat T A 6: 72,578,693 (GRCm39) L135* probably null Het
Rtp3 A G 9: 110,816,389 (GRCm39) probably benign Het
Samd14 A G 11: 94,914,176 (GRCm39) Y305C probably damaging Het
Satb1 T A 17: 52,082,319 (GRCm39) Q445L possibly damaging Het
Shbg A G 11: 69,508,035 (GRCm39) L110P probably damaging Het
Slc17a6 T A 7: 51,317,218 (GRCm39) I413N possibly damaging Het
Slu7 A T 11: 43,331,469 (GRCm39) Q201L probably benign Het
Spg11 T C 2: 121,938,638 (GRCm39) T439A probably benign Het
Sstr5 A T 17: 25,710,647 (GRCm39) L194Q possibly damaging Het
Tjp2 A T 19: 24,116,150 (GRCm39) L13Q probably damaging Het
Tnk2 G A 16: 32,498,960 (GRCm39) V758I probably damaging Het
Ttll8 C A 15: 88,801,450 (GRCm39) V413L probably benign Het
Wiz T C 17: 32,587,109 (GRCm39) D67G probably damaging Het
Other mutations in Dlx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Dlx3 APN 11 95,011,359 (GRCm39) missense probably damaging 1.00
IGL02720:Dlx3 APN 11 95,014,470 (GRCm39) missense possibly damaging 0.73
R1490:Dlx3 UTSW 11 95,011,430 (GRCm39) missense probably benign 0.12
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
Posted On 2015-04-16