Incidental Mutation 'IGL02282:Dlx5'
ID 289878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlx5
Ensembl Gene ENSMUSG00000029755
Gene Name distal-less homeobox 5
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02282
Quality Score
Status
Chromosome 6
Chromosomal Location 6877801-6882068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6881762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 42 (A42V)
Ref Sequence ENSEMBL: ENSMUSP00000138264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052609] [ENSMUST00000142635]
AlphaFold P70396
Predicted Effect probably damaging
Transcript: ENSMUST00000052609
AA Change: A42V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052559
Gene: ENSMUSG00000029755
AA Change: A42V

DomainStartEndE-ValueType
Pfam:DLL_N 32 118 1.1e-26 PFAM
HOX 137 199 4.16e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000142635
AA Change: A42V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138264
Gene: ENSMUSG00000029755
AA Change: A42V

DomainStartEndE-ValueType
Pfam:DLL_N 32 118 1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204014
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,983,351 (GRCm39) D1545G probably damaging Het
Baiap3 A C 17: 25,468,351 (GRCm39) D234E probably benign Het
Bltp2 C T 11: 78,175,054 (GRCm39) P1730S probably benign Het
Cand1 T A 10: 119,046,614 (GRCm39) T959S probably benign Het
Ctdspl2 A G 2: 121,807,959 (GRCm39) probably benign Het
Cyp2a4 A C 7: 26,008,472 (GRCm39) M205L probably benign Het
Dnah7a A G 1: 53,682,669 (GRCm39) I267T possibly damaging Het
Dnajb6 A G 5: 29,957,416 (GRCm39) D66G probably damaging Het
Fgf8 T C 19: 45,725,529 (GRCm39) H201R possibly damaging Het
Gpc1 A G 1: 92,785,689 (GRCm39) K460E probably damaging Het
Gzme A T 14: 56,355,826 (GRCm39) L162Q probably damaging Het
Ik G A 18: 36,878,697 (GRCm39) G17D probably damaging Het
Il4 G A 11: 53,509,001 (GRCm39) T59M probably damaging Het
Kcnh3 G T 15: 99,125,924 (GRCm39) probably null Het
Mill1 G T 7: 17,997,129 (GRCm39) probably null Het
Npbwr1 A T 1: 5,987,184 (GRCm39) M110K possibly damaging Het
Opalin A T 19: 41,054,943 (GRCm39) S84T probably benign Het
Or10w1 T A 19: 13,632,622 (GRCm39) D276E probably damaging Het
Or7g30 A G 9: 19,352,914 (GRCm39) Y235C probably benign Het
Or8b35 A T 9: 37,904,318 (GRCm39) I177F probably damaging Het
Pcdhb11 T C 18: 37,556,881 (GRCm39) L737P probably damaging Het
Phip G A 9: 82,795,743 (GRCm39) S626L probably benign Het
Ppl T C 16: 4,919,322 (GRCm39) D435G probably damaging Het
Prss37 A G 6: 40,492,317 (GRCm39) V178A possibly damaging Het
Ptpn7 A G 1: 135,062,572 (GRCm39) I104V probably damaging Het
Ptprn A G 1: 75,229,800 (GRCm39) Y700H probably damaging Het
Rab11fip5 T A 6: 85,314,534 (GRCm39) T555S probably damaging Het
Rfwd3 A T 8: 112,020,614 (GRCm39) probably benign Het
Robo1 G A 16: 72,539,026 (GRCm39) R41H probably damaging Het
Rps3 A G 7: 99,128,479 (GRCm39) probably null Het
Ruvbl2 G A 7: 45,074,589 (GRCm39) T183I probably benign Het
Sema4c A T 1: 36,589,284 (GRCm39) probably null Het
Shoc1 A C 4: 59,111,114 (GRCm39) Y53D unknown Het
Taar8b T A 10: 23,967,453 (GRCm39) K247I possibly damaging Het
Tacr3 A T 3: 134,566,834 (GRCm39) I236F probably benign Het
Ttc21b A G 2: 66,022,081 (GRCm39) I1168T probably damaging Het
Ttc9b A T 7: 27,355,336 (GRCm39) D202V probably damaging Het
Vmn2r26 T G 6: 124,038,584 (GRCm39) C720G probably damaging Het
Vmn2r37 A G 7: 9,209,761 (GRCm39) S584P probably benign Het
Wnk2 T A 13: 49,221,601 (GRCm39) D1208V probably damaging Het
Zfp988 T A 4: 147,416,125 (GRCm39) C186* probably null Het
Zp3 A G 5: 136,013,205 (GRCm39) N179S possibly damaging Het
Other mutations in Dlx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02937:Dlx5 APN 6 6,881,755 (GRCm39) missense probably damaging 1.00
R0197:Dlx5 UTSW 6 6,881,619 (GRCm39) missense possibly damaging 0.89
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
Posted On 2015-04-16