Incidental Mutation 'R9428:Dlx3'
ID 712751
Institutional Source Beutler Lab
Gene Symbol Dlx3
Ensembl Gene ENSMUSG00000001510
Gene Name distal-less homeobox 3
Synonyms Dlx-3
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9428 (G1)
Quality Score 225.009
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Agmo A G 12: 37,455,330 (GRCm39) I281M probably benign Het
Ahdc1 C T 4: 132,791,773 (GRCm39) P1005S possibly damaging Het
Akap12 T A 10: 4,303,409 (GRCm39) V178D probably damaging Het
Arc A G 15: 74,543,063 (GRCm39) S387P probably benign Het
Arhgap11a C T 2: 113,667,279 (GRCm39) V423I probably benign Het
Arhgap44 A G 11: 64,899,168 (GRCm39) S670P probably damaging Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
C4bp A T 1: 130,581,094 (GRCm39) F138L probably benign Het
Carmil1 A T 13: 24,295,834 (GRCm39) C393* probably null Het
Cblif A G 19: 11,735,102 (GRCm39) T241A probably benign Het
Celsr1 A T 15: 85,815,549 (GRCm39) V1822E possibly damaging Het
Chgb C G 2: 132,635,154 (GRCm39) S365R probably damaging Het
Cnih3 T C 1: 181,180,857 (GRCm39) probably benign Het
Dcaf1 T A 9: 106,735,528 (GRCm39) D825E possibly damaging Het
Dmbt1 A T 7: 130,668,208 (GRCm39) E488V unknown Het
Espnl A G 1: 91,273,595 (GRCm39) Y985C probably damaging Het
Frmpd2 T C 14: 33,272,010 (GRCm39) V1048A probably damaging Het
Fxn A T 19: 24,249,787 (GRCm39) L100Q probably damaging Het
Gapvd1 T A 2: 34,607,318 (GRCm39) D560V probably damaging Het
Gm4924 T A 10: 82,213,490 (GRCm39) H429Q unknown Het
Gpr158 T C 2: 21,787,972 (GRCm39) F538L probably benign Het
Itpr1 T A 6: 108,378,308 (GRCm39) M1278K possibly damaging Het
Ivd T A 2: 118,708,369 (GRCm39) V361E probably damaging Het
Kcnh6 T C 11: 105,899,821 (GRCm39) L30P probably damaging Het
Lipo4 C T 19: 33,495,074 (GRCm39) V35I probably benign Het
Lmo7 A G 14: 102,155,076 (GRCm39) D1200G probably damaging Het
Med1 T A 11: 98,080,049 (GRCm39) R31* probably null Het
Mill2 A T 7: 18,573,950 (GRCm39) R12* probably null Het
Mphosph8 A G 14: 56,934,114 (GRCm39) probably null Het
Mtfr2 T A 10: 20,233,039 (GRCm39) S203T possibly damaging Het
Muc5ac A C 7: 141,362,559 (GRCm39) T1957P unknown Het
Mxi1 C A 19: 53,299,213 (GRCm39) P28Q probably benign Het
Mycbpap T C 11: 94,393,995 (GRCm39) D367G probably damaging Het
Nav3 T C 10: 109,605,176 (GRCm39) T966A probably benign Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Ndst2 A T 14: 20,775,470 (GRCm39) F673L possibly damaging Het
Ndst3 T A 3: 123,340,518 (GRCm39) I767F probably benign Het
Nell1 A T 7: 50,503,683 (GRCm39) D696V probably damaging Het
Nol9 A T 4: 152,124,109 (GRCm39) T100S probably benign Het
Nr4a1 T C 15: 101,168,245 (GRCm39) S94P probably damaging Het
Nrdc T C 4: 108,858,121 (GRCm39) I31T probably damaging Het
Oas2 T A 5: 120,887,576 (GRCm39) D88V probably damaging Het
Or8w1 T C 2: 87,465,774 (GRCm39) I106V probably benign Het
Pex6 A G 17: 47,022,991 (GRCm39) H189R probably benign Het
Pgap1 A G 1: 54,575,206 (GRCm39) S239P probably damaging Het
Pheta1 C T 5: 121,991,147 (GRCm39) P170S possibly damaging Het
Plec A G 15: 76,067,721 (GRCm39) probably null Het
Plekhg5 T C 4: 152,192,780 (GRCm39) V582A probably benign Het
Plekhh2 G T 17: 84,873,841 (GRCm39) E375D probably benign Het
Pramel55 G T 5: 95,949,545 (GRCm39) R97S probably damaging Het
Prp2rt A G 13: 97,235,724 (GRCm39) S8P probably benign Het
Psmd4 G A 3: 94,940,767 (GRCm39) T332I probably benign Het
Ptprc T A 1: 138,041,485 (GRCm39) T76S probably benign Het
Rab44 A T 17: 29,358,315 (GRCm39) I168L Het
Ros1 T C 10: 51,958,061 (GRCm39) T1872A probably benign Het
Scgb1b24 A T 7: 33,443,493 (GRCm39) K51* probably null Het
Scube2 A T 7: 109,428,345 (GRCm39) D509E probably benign Het
Sgo2b A T 8: 64,393,067 (GRCm39) S123R probably damaging Het
Smc3 G C 19: 53,617,150 (GRCm39) R521P possibly damaging Het
Socs4 G A 14: 47,528,034 (GRCm39) R323H probably damaging Het
Socs5 T A 17: 87,441,067 (GRCm39) D2E probably benign Het
Sra1 A G 18: 36,810,299 (GRCm39) V121A probably damaging Het
Stimate T C 14: 30,594,645 (GRCm39) S253P probably benign Het
Tanc1 T C 2: 59,601,548 (GRCm39) L143P probably damaging Het
Tcerg1l A T 7: 137,811,490 (GRCm39) F568Y probably damaging Het
Trpm7 T C 2: 126,671,140 (GRCm39) E614G probably damaging Het
Tuba4a G T 1: 75,192,686 (GRCm39) H337Q Het
Tubgcp6 G A 15: 88,985,100 (GRCm39) H1663Y probably damaging Het
Ush2a A G 1: 188,175,316 (GRCm39) Y1138C probably damaging Het
Vmn1r18 A T 6: 57,367,535 (GRCm39) N6K possibly damaging Het
Vmn1r213 G A 13: 23,195,944 (GRCm39) A176T Het
Vmn1r215 A T 13: 23,260,749 (GRCm39) H263L probably benign Het
Vmn2r51 CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC CGGC 7: 9,833,712 (GRCm39) probably benign Het
Wdhd1 A C 14: 47,489,427 (GRCm39) L702* probably null Het
Zc3h12a T C 4: 125,020,558 (GRCm39) E95G 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
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
Z1177:Dlx3 UTSW 11 95,011,218 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- CGAATCTACAGTCACTGACCTGG -3'
(R):5'- TCTTCGGAGTGTCGTTCAC -3'

Sequencing Primer
(F):5'- AGTCACTGACCTGGGCTATTACAG -3'
(R):5'- TCTGGAGGTCATCTAACCCG -3'
Posted On 2022-05-16