Incidental Mutation 'R5104:Dlx6'
ID 392550
Institutional Source Beutler Lab
Gene Symbol Dlx6
Ensembl Gene ENSMUSG00000029754
Gene Name distal-less homeobox 6
Synonyms
MMRRC Submission 042692-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5104 (G1)
Quality Score 217
Status Not validated
Chromosome 6
Chromosomal Location 6863334-6867970 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AGG to AG at 6865180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031768] [ENSMUST00000160937] [ENSMUST00000171311]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000031768
SMART Domains Protein: ENSMUSP00000031768
Gene: ENSMUSG00000029754

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 null
Transcript: ENSMUST00000160937
SMART Domains Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754

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 null
Transcript: ENSMUST00000171311
SMART Domains Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754

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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.0%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,158,121 (GRCm39) F109L probably damaging Het
Ano4 T A 10: 88,903,974 (GRCm39) Q241L possibly damaging Het
Apof C T 10: 128,105,487 (GRCm39) R214* probably null Het
Armh4 A T 14: 50,010,929 (GRCm39) D259E possibly damaging Het
Atl2 A T 17: 80,160,046 (GRCm39) S47T probably benign Het
Azgp1 T G 5: 137,985,815 (GRCm39) I146S probably damaging Het
Bicral G A 17: 47,112,182 (GRCm39) T1006I probably damaging Het
Ccdc110 A T 8: 46,395,729 (GRCm39) N540I probably damaging Het
Ccdc77 T C 6: 120,325,346 (GRCm39) probably null Het
Cxcr5 G T 9: 44,424,616 (GRCm39) P347Q probably benign Het
Cyp4a14 T G 4: 115,353,126 (GRCm39) H62P probably damaging Het
Dgki T C 6: 37,126,509 (GRCm39) E157G possibly damaging Het
Ehd3 A G 17: 74,134,442 (GRCm39) N267S probably benign Het
Eno4 A G 19: 58,933,973 (GRCm39) Y58C probably benign Het
Fat2 A G 11: 55,169,814 (GRCm39) Y2982H possibly damaging Het
Frmd3 C A 4: 74,063,315 (GRCm39) A214D probably damaging Het
Gabrg1 A C 5: 70,931,775 (GRCm39) S323A probably damaging Het
Gbp9 T C 5: 105,228,007 (GRCm39) I592V probably benign Het
Gje1 G A 10: 14,592,462 (GRCm39) Q107* probably null Het
Gm29609 T C 5: 31,311,638 (GRCm39) probably null Het
Gpam A T 19: 55,082,418 (GRCm39) F78I probably benign Het
Hecw1 T C 13: 14,515,377 (GRCm39) R252G probably damaging Het
Hsd3b5 T A 3: 98,526,592 (GRCm39) S285C probably damaging Het
Ighv1-74 T C 12: 115,766,507 (GRCm39) K37E possibly damaging Het
Igkv8-34 T C 6: 70,021,138 (GRCm39) D108G probably damaging Het
Il6st C G 13: 112,625,182 (GRCm39) T266S probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kit A G 5: 75,776,138 (GRCm39) T307A probably benign Het
Kmt2b G A 7: 30,269,265 (GRCm39) R2552C probably damaging Het
Krt4 T A 15: 101,828,758 (GRCm39) R369W probably damaging Het
Larp4 T A 15: 99,883,964 (GRCm39) M8K probably damaging Het
Lrit3 T A 3: 129,582,040 (GRCm39) H528L possibly damaging Het
Mia3 A G 1: 183,119,579 (GRCm39) L157S probably damaging Het
Naa16 A T 14: 79,622,140 (GRCm39) Y32* probably null Het
Nbea A G 3: 55,987,348 (GRCm39) Y381H probably damaging Het
Nelfcd T C 2: 174,268,159 (GRCm39) V475A probably benign Het
Noxa1 T C 2: 24,976,246 (GRCm39) I347M probably benign Het
Or11h4b T A 14: 50,918,159 (GRCm39) K311* probably null Het
Or2ag17 A T 7: 106,389,539 (GRCm39) F223Y possibly damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or2y3 A T 17: 38,393,174 (GRCm39) S232T possibly damaging Het
Pabpc1l T A 2: 163,885,507 (GRCm39) I420K probably benign Het
Pi4ka C T 16: 17,098,914 (GRCm39) C1990Y probably damaging Het
Pkhd1 T A 1: 20,655,415 (GRCm39) Q223L probably damaging Het
Pkm G T 9: 59,575,964 (GRCm39) probably null Het
Proz A G 8: 13,116,931 (GRCm39) D161G probably damaging Het
Ptprb C A 10: 116,158,364 (GRCm39) H765Q probably benign Het
Relch T C 1: 105,658,965 (GRCm39) V883A probably benign Het
Rffl A T 11: 82,703,619 (GRCm39) C101* probably null Het
Rfx5 C T 3: 94,862,451 (GRCm39) T36I probably benign Het
Rnase12 C A 14: 51,294,361 (GRCm39) C106F probably damaging Het
Samd3 T C 10: 26,139,686 (GRCm39) S273P possibly damaging Het
Simc1 A G 13: 54,674,175 (GRCm39) D841G probably benign Het
Slc8a3 T C 12: 81,260,908 (GRCm39) E607G probably null Het
Snrnp40 G T 4: 130,258,958 (GRCm39) G122V possibly damaging Het
Snx25 T C 8: 46,521,203 (GRCm39) *143W probably null Het
Taf15 A G 11: 83,378,222 (GRCm39) Y154C probably damaging Het
Tgfb3 A G 12: 86,105,756 (GRCm39) V333A possibly damaging Het
Tiam1 A G 16: 89,614,929 (GRCm39) S2P probably benign Het
Tmed11 T C 5: 108,925,142 (GRCm39) probably null Het
Tmtc4 T C 14: 123,170,257 (GRCm39) D585G probably damaging Het
Trabd2b T C 4: 114,264,114 (GRCm39) S34P probably benign Het
Trbv13-2 T C 6: 41,098,745 (GRCm39) Y107H probably damaging Het
Tuba3a A G 6: 125,259,347 (GRCm39) V115A probably benign Het
Tut1 A G 19: 8,936,698 (GRCm39) E174G probably benign Het
Ubr3 T A 2: 69,768,600 (GRCm39) M469K probably damaging Het
Vcan C T 13: 89,805,591 (GRCm39) probably benign Het
Wapl C T 14: 34,414,016 (GRCm39) Q293* probably null Het
Wdr24 A G 17: 26,043,565 (GRCm39) H129R probably damaging Het
Wrn A T 8: 33,757,895 (GRCm39) probably null Het
Other mutations in Dlx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Dlx6 APN 6 6,865,143 (GRCm39) missense probably damaging 1.00
IGL01081:Dlx6 APN 6 6,867,068 (GRCm39) missense probably damaging 1.00
IGL03034:Dlx6 APN 6 6,863,807 (GRCm39) missense probably benign 0.45
IGL03309:Dlx6 APN 6 6,867,289 (GRCm39) missense possibly damaging 0.77
R0848:Dlx6 UTSW 6 6,863,665 (GRCm39) nonsense probably null
R1004:Dlx6 UTSW 6 6,863,665 (GRCm39) nonsense probably null
R1694:Dlx6 UTSW 6 6,867,173 (GRCm39) missense probably damaging 1.00
R1753:Dlx6 UTSW 6 6,863,665 (GRCm39) nonsense probably null
R2076:Dlx6 UTSW 6 6,867,098 (GRCm39) missense probably benign 0.00
R2293:Dlx6 UTSW 6 6,867,246 (GRCm39) missense probably damaging 1.00
R4488:Dlx6 UTSW 6 6,867,207 (GRCm39) missense probably damaging 0.99
R4574:Dlx6 UTSW 6 6,865,305 (GRCm39) intron probably benign
R4942:Dlx6 UTSW 6 6,863,468 (GRCm39) missense probably benign 0.28
R5102:Dlx6 UTSW 6 6,865,180 (GRCm39) frame shift probably null
R5103:Dlx6 UTSW 6 6,865,180 (GRCm39) frame shift probably null
R5105:Dlx6 UTSW 6 6,865,180 (GRCm39) frame shift probably null
R5736:Dlx6 UTSW 6 6,863,660 (GRCm39) missense probably damaging 0.97
R7577:Dlx6 UTSW 6 6,863,423 (GRCm39) missense probably damaging 1.00
R7995:Dlx6 UTSW 6 6,867,277 (GRCm39) missense probably damaging 1.00
R8406:Dlx6 UTSW 6 6,863,779 (GRCm39) missense probably benign 0.13
R9182:Dlx6 UTSW 6 6,863,456 (GRCm39) missense probably benign 0.16
R9401:Dlx6 UTSW 6 6,863,581 (GRCm39) missense probably benign 0.06
R9518:Dlx6 UTSW 6 6,863,406 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCAGCCTTGTCACATGAAG -3'
(R):5'- GCACGGGCATTTGTCATTTAG -3'

Sequencing Primer
(F):5'- CTTGTCACATGAAGGGAGAAGGC -3'
(R):5'- GGTTGACTAGGCCAAGAATTCCTC -3'
Posted On 2016-06-15