Incidental Mutation 'R8068:Dlx4'
ID 620121
Institutional Source Beutler Lab
Gene Symbol Dlx4
Ensembl Gene ENSMUSG00000020871
Gene Name distal-less homeobox 4
Synonyms DII D, Dlx7, Dlx-4
MMRRC Submission 067503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R8068 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 95031273-95037089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95036156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 51 (Y51C)
Ref Sequence ENSEMBL: ENSMUSP00000021241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021241]
AlphaFold P70436
Predicted Effect possibly damaging
Transcript: ENSMUST00000021241
AA Change: Y51C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021241
Gene: ENSMUSG00000020871
AA Change: Y51C

DomainStartEndE-ValueType
low complexity region 92 104 N/A INTRINSIC
HOX 116 178 1.22e-21 SMART
low complexity region 190 201 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 41,278,975 (GRCm39) D455E not run Het
Aldoc T C 11: 78,215,553 (GRCm39) F79S possibly damaging Het
Atmin A G 8: 117,683,389 (GRCm39) S350G probably benign Het
Bms1 A G 6: 118,390,711 (GRCm39) F206S probably damaging Het
Carmil1 T A 13: 24,259,711 (GRCm39) I698L probably benign Het
Cd47 T A 16: 49,715,779 (GRCm39) S182T Het
Ces2e G T 8: 105,659,629 (GRCm39) probably null Het
Cfap251 A G 5: 123,394,229 (GRCm39) S373G not run Het
Cit C A 5: 116,090,525 (GRCm39) H906Q probably damaging Het
Cit T C 5: 116,120,294 (GRCm39) S1370P probably benign Het
Dchs2 T C 3: 83,207,745 (GRCm39) F1739L probably benign Het
Drosha T A 15: 12,883,276 (GRCm39) Y796* probably null Het
Elf1 T A 14: 79,773,830 (GRCm39) F14I probably benign Het
Fam135b T C 15: 71,404,827 (GRCm39) Q73R probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gls2 C G 10: 128,030,983 (GRCm39) R81G unknown Het
Hnrnpll T C 17: 80,358,281 (GRCm39) M157V possibly damaging Het
Itgb3 T A 11: 104,556,337 (GRCm39) M726K probably benign Het
Kcna10 T G 3: 107,101,726 (GRCm39) M119R possibly damaging Het
Kcnh1 A G 1: 191,924,250 (GRCm39) T155A probably benign Het
Kctd9 T A 14: 67,962,111 (GRCm39) D51E unknown Het
Lgr6 T C 1: 134,991,402 (GRCm39) I129V probably benign Het
Lrrfip1 A T 1: 91,055,824 (GRCm39) D598V probably damaging Het
Ltbp4 G T 7: 27,023,593 (GRCm39) Q850K probably damaging Het
Mdm1 A G 10: 117,982,709 (GRCm39) R115G possibly damaging Het
Mns1 A C 9: 72,355,809 (GRCm39) probably null Het
Mthfs G A 9: 89,093,288 (GRCm39) R14Q probably damaging Het
Muc2 T A 7: 141,298,422 (GRCm39) S25T Het
Ncapd3 T C 9: 26,974,657 (GRCm39) S710P possibly damaging Het
Nrip1 T A 16: 76,089,841 (GRCm39) H572L possibly damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Opa3 A G 7: 18,978,910 (GRCm39) E125G probably damaging Het
Or52p1 T A 7: 104,267,460 (GRCm39) C191* probably null Het
Or5ap2 A G 2: 85,680,150 (GRCm39) E118G probably damaging Het
Or5w19 A G 2: 87,698,995 (GRCm39) Y220C probably benign Het
P3h1 A G 4: 119,094,059 (GRCm39) Y238C probably damaging Het
Pappa2 T C 1: 158,763,555 (GRCm39) D652G possibly damaging Het
Pcdha11 T A 18: 37,138,618 (GRCm39) N82K probably damaging Het
Pde4b T C 4: 102,453,212 (GRCm39) I293T probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Qki T C 17: 10,537,732 (GRCm39) D24G possibly damaging Het
Rbpjl A G 2: 164,250,438 (GRCm39) K197E possibly damaging Het
Rnf111 A T 9: 70,365,223 (GRCm39) S415T probably benign Het
Scyl1 A G 19: 5,810,853 (GRCm39) V488A probably damaging Het
Slc1a6 G C 10: 78,648,706 (GRCm39) V476L possibly damaging Het
Slc22a17 A T 14: 55,146,365 (GRCm39) F84I probably benign Het
Slc22a4 A C 11: 53,888,269 (GRCm39) I253S possibly damaging Het
Speer2 T C 16: 69,657,412 (GRCm39) H77R possibly damaging Het
Speg T C 1: 75,398,894 (GRCm39) S2114P probably damaging Het
Synpo2 T A 3: 122,911,041 (GRCm39) R201S possibly damaging Het
Ttpa C A 4: 20,028,419 (GRCm39) H225Q probably damaging Het
Vmn1r45 A T 6: 89,910,261 (GRCm39) H236Q possibly damaging Het
Vmn2r7 A T 3: 64,623,507 (GRCm39) V271D probably benign Het
Zfp53 A T 17: 21,729,274 (GRCm39) T436S probably benign Het
Other mutations in Dlx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0127:Dlx4 UTSW 11 95,032,055 (GRCm39) missense probably benign 0.08
R0383:Dlx4 UTSW 11 95,036,261 (GRCm39) missense probably benign 0.33
R6408:Dlx4 UTSW 11 95,036,078 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAATCCCTCTAGTTGCGCG -3'
(R):5'- AGACTTTGAAAGGAGCTGGC -3'

Sequencing Primer
(F):5'- CAGAAGAACGCGAAATTTATGC -3'
(R):5'- ATGACCTAGGCCCTGTGG -3'
Posted On 2020-01-23