Incidental Mutation 'R0197:Dlx5'
ID 23496
Institutional Source Beutler Lab
Gene Symbol Dlx5
Ensembl Gene ENSMUSG00000029755
Gene Name distal-less homeobox 5
Synonyms
MMRRC Submission 038456-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0197 (G1)
Quality Score 219
Status Validated
Chromosome 6
Chromosomal Location 6877801-6882068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6881619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 90 (K90E)
Ref Sequence ENSEMBL: ENSMUSP00000138264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052609] [ENSMUST00000142635]
AlphaFold P70396
Predicted Effect possibly damaging
Transcript: ENSMUST00000052609
AA Change: K90E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052559
Gene: ENSMUSG00000029755
AA Change: K90E

DomainStartEndE-ValueType
Pfam:DLL_N 32 118 1.1e-26 PFAM
HOX 137 199 4.16e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000142635
AA Change: K90E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138264
Gene: ENSMUSG00000029755
AA Change: K90E

DomainStartEndE-ValueType
Pfam:DLL_N 32 118 1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204014
Meta Mutation Damage Score 0.1224 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.5%
  • 20x: 75.9%
Validation Efficiency 97% (121/125)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants display multiple defects in craniofacial structures, including ears, nose, mandible and calvaria, and die shortly after birth, with some exhibiting exencephaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,632 (GRCm39) L1607P probably damaging Het
1700016H13Rik T C 5: 103,796,687 (GRCm39) *118W probably null Het
Abcc2 A T 19: 43,815,053 (GRCm39) R1147* probably null Het
Acsbg3 A T 17: 57,190,835 (GRCm39) N468Y probably benign Het
Agap2 A G 10: 126,927,571 (GRCm39) T1131A possibly damaging Het
Aldh9a1 A G 1: 167,189,416 (GRCm39) D388G probably damaging Het
Ap3d1 G T 10: 80,565,876 (GRCm39) A97E probably damaging Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Baiap2l1 C A 5: 144,202,820 (GRCm39) V498L probably damaging Het
Bltp2 A C 11: 78,160,530 (GRCm39) probably benign Het
Cdh2 T C 18: 16,762,633 (GRCm39) N437S probably benign Het
Cert1 T A 13: 96,685,795 (GRCm39) Y63N probably benign Het
Cfap119 T C 7: 127,184,034 (GRCm39) E261G probably damaging Het
Cfap20dc C T 14: 8,518,695 (GRCm38) G254R probably damaging Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Cstf2t A T 19: 31,062,026 (GRCm39) M521L probably benign Het
Dmp1 A G 5: 104,355,496 (GRCm39) E32G possibly damaging Het
Espnl T G 1: 91,272,211 (GRCm39) Y524D probably damaging Het
Fam20c T C 5: 138,741,479 (GRCm39) L30P probably damaging Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Gabrg1 A T 5: 70,931,732 (GRCm39) V337D probably damaging Het
Gart C A 16: 91,420,291 (GRCm39) D851Y possibly damaging Het
Gcc1 T C 6: 28,420,615 (GRCm39) H234R probably damaging Het
Gemin6 T A 17: 80,535,524 (GRCm39) H161Q probably damaging Het
Glt6d1 A G 2: 25,684,082 (GRCm39) I308T probably benign Het
Gm10320 T C 13: 98,628,491 (GRCm39) T7A probably benign Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Gmpr2 T A 14: 55,910,192 (GRCm39) D7E possibly damaging Het
Hc A G 2: 34,874,762 (GRCm39) Y1620H probably damaging Het
Hoxa3 T C 6: 52,147,123 (GRCm39) probably benign Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kdr G T 5: 76,129,082 (GRCm39) T188N possibly damaging Het
Lepr A T 4: 101,609,349 (GRCm39) D312V possibly damaging Het
Mcm3 A G 1: 20,880,329 (GRCm39) V501A probably damaging Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Med13l T C 5: 118,809,067 (GRCm39) probably benign Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Ndrg2 T A 14: 52,144,460 (GRCm39) probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Onecut2 T A 18: 64,474,543 (GRCm39) S365T possibly damaging Het
Or13c25 G A 4: 52,910,849 (GRCm39) T315M probably benign Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Or51e1 T A 7: 102,359,202 (GRCm39) H245Q probably damaging Het
Pds5b C A 5: 150,677,896 (GRCm39) Q505K probably benign Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
Rfx2 T C 17: 57,110,722 (GRCm39) Y88C probably damaging Het
Rpl6 T C 5: 121,346,541 (GRCm39) V214A probably benign Het
Samd3 T A 10: 26,147,752 (GRCm39) C476S possibly damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Shank1 C T 7: 44,001,718 (GRCm39) R1146W unknown Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Smpd4 T A 16: 17,459,461 (GRCm39) probably null Het
Strip1 C A 3: 107,521,929 (GRCm39) D750Y probably damaging Het
Svep1 T C 4: 58,070,851 (GRCm39) K2312E possibly damaging Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Tnfaip1 A T 11: 78,420,840 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp24 T A 4: 106,264,330 (GRCm39) W1754R probably damaging Het
Utp20 G A 10: 88,613,378 (GRCm39) P1301L probably benign Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vps41 T G 13: 19,038,833 (GRCm39) probably null Het
Vps72 G T 3: 95,029,894 (GRCm39) L304F probably damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zfp521 T C 18: 13,978,119 (GRCm39) T765A probably benign Het
Zfp616 A T 11: 73,976,500 (GRCm39) H923L probably damaging Het
Zp2 A T 7: 119,742,799 (GRCm39) probably benign Het
Other mutations in Dlx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Dlx5 APN 6 6,881,762 (GRCm39) missense probably damaging 1.00
IGL02937:Dlx5 APN 6 6,881,755 (GRCm39) missense probably damaging 1.00
R1997:Dlx5 UTSW 6 6,879,680 (GRCm39) missense possibly damaging 0.69
R3872:Dlx5 UTSW 6 6,878,209 (GRCm39) missense probably benign 0.37
R4475:Dlx5 UTSW 6 6,881,663 (GRCm39) missense probably damaging 1.00
R6936:Dlx5 UTSW 6 6,879,585 (GRCm39) missense probably damaging 1.00
R7463:Dlx5 UTSW 6 6,878,316 (GRCm39) missense probably damaging 1.00
R7499:Dlx5 UTSW 6 6,878,341 (GRCm39) missense probably benign
R7499:Dlx5 UTSW 6 6,878,340 (GRCm39) missense possibly damaging 0.68
R8861:Dlx5 UTSW 6 6,878,233 (GRCm39) missense probably benign
Z1088:Dlx5 UTSW 6 6,879,607 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGCTGCTTGATTTCACCCAC -3'
(R):5'- TCGGCCACCGATTCTGACTACTAC -3'

Sequencing Primer
(F):5'- AGCCTCTTTGCAGCCAAG -3'
(R):5'- GATTCTGACTACTACAGTCCCG -3'
Posted On 2013-04-16