Incidental Mutation 'IGL03034:Dlx6'
ID408586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlx6
Ensembl Gene ENSMUSG00000029754
Gene Namedistal-less homeobox 6
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03034
Quality Score
Status
Chromosome6
Chromosomal Location6863334-6868568 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 6863807 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 143 (Q143P)
Ref Sequence ENSEMBL: ENSMUSP00000128585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031768] [ENSMUST00000160937] [ENSMUST00000171311]
Predicted Effect probably benign
Transcript: ENSMUST00000031768
AA Change: Q4P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031768
Gene: ENSMUSG00000029754
AA Change: Q4P

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 noncoding transcript
Transcript: ENSMUST00000159827
Predicted Effect probably benign
Transcript: ENSMUST00000160937
AA Change: Q143P

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754
AA Change: Q143P

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 benign
Transcript: ENSMUST00000171311
AA Change: Q143P

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754
AA Change: Q143P

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,890,082 probably benign Het
Ablim2 A G 5: 35,828,165 T269A probably benign Het
Asgr2 G T 11: 70,098,263 G178W probably damaging Het
Chtf18 A G 17: 25,727,346 probably benign Het
Cnmd C T 14: 79,641,928 A257T probably benign Het
Cox7a1 A G 7: 30,185,268 probably benign Het
Cpox C T 16: 58,675,355 T345M probably damaging Het
Crisp1 T C 17: 40,307,728 T81A probably benign Het
Dcc T A 18: 71,575,143 R501* probably null Het
Dpp10 T A 1: 123,341,619 Y687F probably damaging Het
Eif2b1 A G 5: 124,571,831 V228A probably benign Het
Enpep T C 3: 129,298,950 D528G probably damaging Het
Fbxo6 G A 4: 148,146,122 Q228* probably null Het
Iars T A 13: 49,690,489 N146K possibly damaging Het
Kctd9 T A 14: 67,734,279 S268T probably benign Het
Kifap3 G A 1: 163,888,277 V749M probably benign Het
Mdm4 T C 1: 133,011,071 D94G probably damaging Het
Mllt10 T G 2: 18,065,036 M1R probably null Het
Mtcl1 T C 17: 66,344,198 Y1424C probably damaging Het
Mybpc2 A T 7: 44,511,897 I549N possibly damaging Het
Myocd T C 11: 65,218,685 T87A probably benign Het
Nr3c2 T G 8: 77,187,638 Y824* probably null Het
Olfr1270 A G 2: 90,149,833 Y58H probably damaging Het
Olfr1437 T C 19: 12,322,654 T58A possibly damaging Het
Olfr1447 T C 19: 12,901,757 T8A possibly damaging Het
Olfr551 G A 7: 102,587,940 H268Y probably benign Het
Olfr791 A T 10: 129,526,658 I144F probably benign Het
Omg T A 11: 79,502,121 T304S possibly damaging Het
Pde3a G A 6: 141,492,400 probably benign Het
Phf20l1 A G 15: 66,597,403 K129E probably damaging Het
Phka2 G T X: 160,577,550 E858* probably null Het
Pp2d1 T C 17: 53,508,053 T548A possibly damaging Het
Prr14l G A 5: 32,827,438 A1571V possibly damaging Het
Rbms3 A G 9: 117,251,811 probably benign Het
Sparcl1 T C 5: 104,093,237 E107G probably damaging Het
Stra6l A G 4: 45,885,392 D620G probably benign Het
Traf3ip2 A T 10: 39,626,219 K121I probably damaging Het
Ttc34 T C 4: 154,861,183 S734P probably damaging Het
Zfp953 C T 13: 67,343,462 C142Y probably damaging Het
Zfp955b T A 17: 33,302,168 C204S probably benign Het
Other mutations in Dlx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Dlx6 APN 6 6865143 missense probably damaging 1.00
IGL01081:Dlx6 APN 6 6867068 missense probably damaging 1.00
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
Posted On2016-08-02