Incidental Mutation 'R8967:Dlx3'
ID 682813
Institutional Source Beutler Lab
Gene Symbol Dlx3
Ensembl Gene ENSMUSG00000001510
Gene Name distal-less homeobox 3
Synonyms Dlx-3
MMRRC Submission 068801-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8967 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 95010945-95016122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95014577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 287 (Y287H)
Ref Sequence ENSEMBL: ENSMUSP00000090443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092768]
AlphaFold Q64205
Predicted Effect probably damaging
Transcript: ENSMUST00000092768
AA Change: Y287H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090443
Gene: ENSMUSG00000001510
AA Change: Y287H

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: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (52/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,242,696 (GRCm39) S1520P probably benign Het
Abhd12 A G 2: 150,679,351 (GRCm39) Y291H probably damaging Het
Abr C A 11: 76,369,855 (GRCm39) S178I possibly damaging Het
Akap13 T A 7: 75,378,882 (GRCm39) I422K possibly damaging Het
Arfgef2 A T 2: 166,677,662 (GRCm39) T185S probably damaging Het
Arfip2 A T 7: 105,286,341 (GRCm39) Y228N probably damaging Het
B4gat1 T C 19: 5,089,678 (GRCm39) V225A probably damaging Het
Brf1 G A 12: 112,937,239 (GRCm39) P183S probably damaging Het
Ceacam1 T C 7: 25,163,297 (GRCm39) N312S possibly damaging Het
Cep135 T C 5: 76,751,165 (GRCm39) L337P probably damaging Het
Cnppd1 A T 1: 75,113,265 (GRCm39) C334* probably null Het
Cpxm2 A T 7: 131,661,564 (GRCm39) Y408N probably damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dnah7a A T 1: 53,682,594 (GRCm39) probably benign Het
Dnah9 C A 11: 66,015,938 (GRCm39) probably null Het
Dnai3 T A 3: 145,761,395 (GRCm39) N654Y possibly damaging Het
Dnajc1 A T 2: 18,313,757 (GRCm39) Y121* probably null Het
Ecel1 A T 1: 87,078,862 (GRCm39) Y526N probably damaging Het
Ect2 A T 3: 27,199,132 (GRCm39) V218E probably damaging Het
Heca A G 10: 17,790,738 (GRCm39) probably null Het
Hsd17b7 A T 1: 169,796,685 (GRCm39) L6* probably null Het
Irgc T A 7: 24,132,737 (GRCm39) T27S probably benign Het
Lama3 A C 18: 12,665,096 (GRCm39) I671L possibly damaging Het
Mybl2 T C 2: 162,914,806 (GRCm39) L308P probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nphp1 G A 2: 127,582,897 (GRCm39) P672L probably damaging Het
Oas3 G A 5: 120,896,907 (GRCm39) H905Y probably damaging Het
Obscn A G 11: 58,972,740 (GRCm39) V2102A probably benign Het
Or10j3 A G 1: 173,031,039 (GRCm39) T39A probably benign Het
Or1j20 A T 2: 36,760,066 (GRCm39) T163S probably damaging Het
Or2a57 T C 6: 43,213,073 (GRCm39) F177S probably damaging Het
Or4p8 A T 2: 88,727,844 (GRCm39) Y32* probably null Het
Or6z7 A G 7: 6,484,011 (GRCm39) L48P possibly damaging Het
Pank4 C G 4: 155,055,415 (GRCm39) H262D probably benign Het
Phkb T A 8: 86,756,063 (GRCm39) probably benign Het
Pxylp1 G A 9: 96,707,324 (GRCm39) T286M probably damaging Het
Pygm A T 19: 6,434,744 (GRCm39) D79V probably damaging Het
Rapgef4 A G 2: 72,056,854 (GRCm39) T682A possibly damaging Het
Sec24b C T 3: 129,785,084 (GRCm39) R974Q probably damaging Het
Serpinb6e A G 13: 34,020,419 (GRCm39) F230L possibly damaging Het
Skint6 A T 4: 112,729,701 (GRCm39) L850* probably null Het
Slc7a11 C A 3: 50,338,564 (GRCm39) V282L probably benign Het
Smg1 A G 7: 117,765,739 (GRCm39) S1895P unknown Het
Tango2 A G 16: 18,165,763 (GRCm39) probably benign Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Tmem64 T A 4: 15,266,575 (GRCm39) F208L probably damaging Het
Tpcn1 A T 5: 120,694,023 (GRCm39) V191E probably damaging Het
Zbtb41 A G 1: 139,370,587 (GRCm39) I675V probably benign Het
Zfp180 T C 7: 23,804,726 (GRCm39) S382P probably damaging Het
Zfp932 A G 5: 110,156,883 (GRCm39) S194G 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
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'- CAGCACTCTGGGACACATCTTC -3'
(R):5'- CCATGCATTTGTCATCTGGAGG -3'

Sequencing Primer
(F):5'- GGGACACATCTTCCCATTCCAC -3'
(R):5'- GTTGTTGGGTCCCTGGAAGAAG -3'
Posted On 2021-10-11