Incidental Mutation 'IGL02937:Dlx5'
ID 364350
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 # IGL02937
Quality Score
Status
Chromosome 6
Chromosomal Location 6877801-6882068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6881755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 44 (D44E)
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: D44E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052559
Gene: ENSMUSG00000029755
AA Change: D44E

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: D44E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138264
Gene: ENSMUSG00000029755
AA Change: D44E

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,206,049 (GRCm39) C21Y probably damaging Het
4933427D06Rik T C 6: 89,085,127 (GRCm39) noncoding transcript Het
5730480H06Rik A G 5: 48,536,783 (GRCm39) I160V probably benign Het
Arhgap29 G A 3: 121,767,698 (GRCm39) E47K probably damaging Het
Arhgef12 T A 9: 42,927,216 (GRCm39) S303C probably damaging Het
Bap1 A G 14: 30,980,284 (GRCm39) N644S probably benign Het
Cc2d1b A G 4: 108,489,091 (GRCm39) E796G probably damaging Het
Cfh C A 1: 140,033,180 (GRCm39) R788L probably benign Het
Cldn1 A G 16: 26,179,623 (GRCm39) F148S probably damaging Het
Cryzl1 A G 16: 91,487,619 (GRCm39) M292T possibly damaging Het
Cyp11b1 T C 15: 74,708,408 (GRCm39) R385G possibly damaging Het
Cyp4f37 T C 17: 32,844,163 (GRCm39) L89P probably benign Het
Dach1 A G 14: 98,153,231 (GRCm39) probably null Het
Dhtkd1 A G 2: 5,922,716 (GRCm39) I481T possibly damaging Het
Dsg1a T A 18: 20,464,591 (GRCm39) I362N possibly damaging Het
Ecm2 T A 13: 49,671,952 (GRCm39) I151N probably damaging Het
Far1 T A 7: 113,139,855 (GRCm39) I101N probably damaging Het
Gm21985 T C 2: 112,172,207 (GRCm39) S384P probably benign Het
Gnb5 T C 9: 75,247,471 (GRCm39) Y247H probably damaging Het
Golgb1 A G 16: 36,736,572 (GRCm39) K1940E probably damaging Het
Gprc5b A G 7: 118,583,017 (GRCm39) V284A probably benign Het
Idh2 T C 7: 79,748,661 (GRCm39) Y179C probably damaging Het
Kalrn G A 16: 34,040,500 (GRCm39) Q737* probably null Het
Kcnj13 T C 1: 87,314,175 (GRCm39) D349G probably damaging Het
Lgsn A T 1: 31,243,318 (GRCm39) T467S possibly damaging Het
Map9 T A 3: 82,270,819 (GRCm39) S128T possibly damaging Het
Mroh5 A G 15: 73,661,827 (GRCm39) C455R probably damaging Het
Nes A G 3: 87,887,186 (GRCm39) H1771R probably benign Het
Nkain2 T C 10: 32,205,840 (GRCm39) Y65C probably damaging Het
Or51a43 T A 7: 103,718,056 (GRCm39) M61L probably damaging Het
Or51b6b A T 7: 103,310,112 (GRCm39) V115D probably damaging Het
Or6aa1 T C 7: 86,043,798 (GRCm39) K303E possibly damaging Het
Pabpc4l A C 3: 46,400,725 (GRCm39) D306E probably benign Het
Parp12 A T 6: 39,079,515 (GRCm39) Y332N probably damaging Het
Parvb A T 15: 84,193,154 (GRCm39) K316M probably damaging Het
Pde8a T A 7: 80,945,519 (GRCm39) probably benign Het
Polq A G 16: 36,833,471 (GRCm39) T55A probably benign Het
Ppp2r5b T A 19: 6,281,016 (GRCm39) K271M probably damaging Het
Ralgapb A G 2: 158,334,936 (GRCm39) probably null Het
Rigi C T 4: 40,229,661 (GRCm39) C86Y probably benign Het
Skap2 T C 6: 51,886,351 (GRCm39) N175D probably benign Het
Slc44a3 A G 3: 121,303,970 (GRCm39) probably benign Het
Smurf2 G A 11: 106,736,873 (GRCm39) H318Y probably damaging Het
Tbc1d23 T C 16: 57,004,778 (GRCm39) T460A possibly damaging Het
Tcerg1 T C 18: 42,657,414 (GRCm39) S299P unknown Het
Tll1 A C 8: 64,658,319 (GRCm39) Y33* probably null Het
Tmem59 A T 4: 107,054,782 (GRCm39) T196S probably damaging Het
Ttll4 C A 1: 74,718,662 (GRCm39) A171D possibly damaging Het
Ttn T C 2: 76,641,513 (GRCm39) T13528A possibly damaging Het
Ttn A G 2: 76,717,621 (GRCm39) probably benign Het
Xpc C A 6: 91,477,119 (GRCm39) G327W probably damaging Het
Zbtb7a A G 10: 80,980,132 (GRCm39) S109G probably benign Het
Zfyve26 T C 12: 79,285,794 (GRCm39) M2328V probably benign Het
Other mutations in Dlx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Dlx5 APN 6 6,881,762 (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 2015-12-18