Incidental Mutation 'IGL01081:Dlx6'
ID 51264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlx6
Ensembl Gene ENSMUSG00000029754
Gene Name distal-less homeobox 6
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01081
Quality Score
Status
Chromosome 6
Chromosomal Location 6863334-6868568 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 6867068 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 85 (S85A)
Ref Sequence ENSEMBL: ENSMUSP00000031768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031768] [ENSMUST00000160937] [ENSMUST00000171311]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031768
AA Change: S85A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031768
Gene: ENSMUSG00000029754
AA Change: S85A

DomainStartEndE-ValueType
HOX 32 94 7.65e-23 SMART
low complexity region 102 118 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159568
Predicted Effect probably damaging
Transcript: ENSMUST00000160937
AA Change: S224A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754
AA Change: S224A

DomainStartEndE-ValueType
low complexity region 26 59 N/A INTRINSIC
low complexity region 79 102 N/A INTRINSIC
HOX 171 233 7.65e-23 SMART
low complexity region 241 257 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171311
AA Change: S224A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754
AA Change: S224A

DomainStartEndE-ValueType
low complexity region 26 59 N/A INTRINSIC
low complexity region 79 102 N/A INTRINSIC
HOX 171 233 7.65e-23 SMART
low complexity region 241 257 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184182
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. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations at both Dlx5 and Dlx6 exhibit bilateral ectrodactyly, homeotic transformation of the lower jaw into an upper jaw, and perinatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,990,594 L158P probably damaging Het
Aco1 A G 4: 40,197,576 Q860R probably benign Het
Actl11 A T 9: 107,928,982 Q168L possibly damaging Het
Adam26b T C 8: 43,519,938 I676V probably benign Het
Aldoart2 A C 12: 55,566,135 I282L probably benign Het
Capns1 G T 7: 30,190,140 S211R probably benign Het
Cps1 T C 1: 67,206,824 V1158A probably damaging Het
Cryl1 C T 14: 57,286,364 probably null Het
Cxcr5 A G 9: 44,514,310 probably benign Het
Dcaf13 A G 15: 39,118,806 K56E probably damaging Het
Dsg2 C T 18: 20,589,942 probably benign Het
Dync1li1 T A 9: 114,720,597 S412T possibly damaging Het
Ebf3 C A 7: 137,225,896 probably benign Het
Fads3 T C 19: 10,053,002 I168T probably benign Het
Gm10295 G A 7: 71,350,548 P95S unknown Het
Gm43638 T C 5: 87,486,596 T51A probably damaging Het
Gm5114 G A 7: 39,410,647 probably benign Het
Gucy2c G A 6: 136,702,739 T974M probably damaging Het
Ighv1-19-1 T C 12: 114,708,638 probably benign Het
Kri1 A T 9: 21,280,427 L173Q probably damaging Het
Lztfl1 T C 9: 123,702,273 D210G probably benign Het
Morc2a T A 11: 3,688,149 N958K probably damaging Het
Msl3l2 G A 10: 56,115,925 A249T probably benign Het
Nlrp4a A G 7: 26,449,829 E287G probably benign Het
Nlrp9a A T 7: 26,558,094 N290I possibly damaging Het
Olfr1040 C T 2: 86,146,611 G41D probably benign Het
Olfr1367 T G 13: 21,347,015 L29R probably damaging Het
Olfr1509 A G 14: 52,451,027 T205A probably benign Het
Pcsk7 A G 9: 45,928,707 D731G probably benign Het
Plppr5 T A 3: 117,686,649 probably benign Het
Podxl T C 6: 31,528,704 T135A possibly damaging Het
Pole T G 5: 110,337,240 C407G possibly damaging Het
Prl C A 13: 27,065,041 N224K possibly damaging Het
Prnp A T 2: 131,936,420 probably benign Het
Proser2 A G 2: 6,100,338 *472R probably null Het
Rhag T C 17: 40,811,287 S38P possibly damaging Het
Rnf146 T C 10: 29,347,860 D10G probably damaging Het
Rps3a1 T C 3: 86,141,778 D29G probably benign Het
Sv2a A T 3: 96,189,696 I446F probably benign Het
Tbc1d30 C A 10: 121,267,414 R571L probably damaging Het
Tfrc T A 16: 32,624,828 probably null Het
Tnfaip1 G A 11: 78,528,303 P156S probably damaging Het
Vmn1r226 T C 17: 20,687,904 S133P probably damaging Het
Wnt9b C T 11: 103,732,010 R189K probably damaging Het
Ythdc2 A G 18: 44,850,659 H564R probably benign Het
Zfp442 C A 2: 150,409,347 E211* probably null Het
Other mutations in Dlx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Dlx6 APN 6 6865143 missense probably damaging 1.00
IGL03034:Dlx6 APN 6 6863807 missense probably benign 0.45
IGL03309:Dlx6 APN 6 6867289 missense possibly damaging 0.77
R0848:Dlx6 UTSW 6 6863665 nonsense probably null
R1004:Dlx6 UTSW 6 6863665 nonsense probably null
R1694:Dlx6 UTSW 6 6867173 missense probably damaging 1.00
R1753:Dlx6 UTSW 6 6863665 nonsense probably null
R2076:Dlx6 UTSW 6 6867098 missense probably benign 0.00
R2293:Dlx6 UTSW 6 6867246 missense probably damaging 1.00
R4488:Dlx6 UTSW 6 6867207 missense probably damaging 0.99
R4574:Dlx6 UTSW 6 6865305 intron probably benign
R4942:Dlx6 UTSW 6 6863468 missense probably benign 0.28
R5102:Dlx6 UTSW 6 6865180 frame shift probably null
R5103:Dlx6 UTSW 6 6865180 frame shift probably null
R5104:Dlx6 UTSW 6 6865180 frame shift probably null
R5105:Dlx6 UTSW 6 6865180 frame shift probably null
R5736:Dlx6 UTSW 6 6863660 missense probably damaging 0.97
R7577:Dlx6 UTSW 6 6863423 missense probably damaging 1.00
R7995:Dlx6 UTSW 6 6867277 missense probably damaging 1.00
R8406:Dlx6 UTSW 6 6863779 missense probably benign 0.13
R9182:Dlx6 UTSW 6 6863456 missense probably benign 0.16
R9401:Dlx6 UTSW 6 6863581 missense probably benign 0.06
R9518:Dlx6 UTSW 6 6863406 missense probably damaging 0.99
Posted On 2013-06-21