Incidental Mutation 'R7995:Dlx6'
ID 616020
Institutional Source Beutler Lab
Gene Symbol Dlx6
Ensembl Gene ENSMUSG00000029754
Gene Name distal-less homeobox 6
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7995 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 6863334-6867970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6867277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 293 (R293S)
Ref Sequence ENSEMBL: ENSMUSP00000124204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031768] [ENSMUST00000160937] [ENSMUST00000171311]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000031768
AA Change: R154S

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031768
Gene: ENSMUSG00000029754
AA Change: R154S

DomainStartEndE-ValueType
HOX 32 94 7.65e-23 SMART
low complexity region 102 118 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160937
AA Change: R293S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754
AA Change: R293S

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: R293S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754
AA Change: R293S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,528 (GRCm39) T137S unknown Het
Apbb1 T C 7: 105,214,852 (GRCm39) D462G probably benign Het
Arhgef1 T G 7: 24,618,641 (GRCm39) L387R probably damaging Het
Ass1 A G 2: 31,376,552 (GRCm39) I139V probably benign Het
B4galt5 A G 2: 167,143,296 (GRCm39) V376A probably damaging Het
Bdkrb1 A G 12: 105,571,379 (GRCm39) N315S probably damaging Het
Brap A T 5: 121,820,909 (GRCm39) I429L probably benign Het
Capn2 A G 1: 182,306,111 (GRCm39) probably null Het
Car10 A G 11: 93,487,948 (GRCm39) Y215C probably damaging Het
Ccdc102a T C 8: 95,634,495 (GRCm39) T365A probably damaging Het
Cdc42ep1 A G 15: 78,731,696 (GRCm39) H47R probably damaging Het
Celsr3 G A 9: 108,722,282 (GRCm39) S2734N probably damaging Het
Cers5 A C 15: 99,638,823 (GRCm39) probably null Het
Cfap43 T C 19: 47,886,462 (GRCm39) E51G probably damaging Het
Cftr T A 6: 18,214,155 (GRCm39) D110E probably damaging Het
Cimap2 T A 4: 106,473,112 (GRCm39) H57L probably benign Het
Cntnap5a A G 1: 116,499,277 (GRCm39) K1176E probably damaging Het
Dnah2 A T 11: 69,411,563 (GRCm39) F353Y possibly damaging Het
Dnajc13 A T 9: 104,051,562 (GRCm39) I1765N probably damaging Het
Ercc6 G T 14: 32,284,526 (GRCm39) R763L probably damaging Het
Furin T C 7: 80,045,195 (GRCm39) N243S probably damaging Het
Hace1 A G 10: 45,465,588 (GRCm39) E48G probably damaging Het
Kcnv1 G A 15: 44,972,743 (GRCm39) T380I probably damaging Het
Klk4 T A 7: 43,533,010 (GRCm39) I32N probably damaging Het
Lingo2 T C 4: 35,709,425 (GRCm39) E185G probably damaging Het
Lrba T A 3: 86,526,858 (GRCm39) W2239R probably damaging Het
Mical2 T A 7: 111,980,975 (GRCm39) D316E probably benign Het
Mlh1 G T 9: 111,064,989 (GRCm39) N555K probably damaging Het
Mroh2b G A 15: 4,950,839 (GRCm39) W579* probably null Het
Mycs G A X: 5,380,858 (GRCm39) P74L probably damaging Het
Or5p62 A T 7: 107,771,207 (GRCm39) L248H probably damaging Het
Or6c1 T C 10: 129,518,509 (GRCm39) Y33C probably damaging Het
Pak2 T C 16: 31,846,590 (GRCm39) I365V possibly damaging Het
Pcdhga11 C A 18: 37,890,078 (GRCm39) S362* probably null Het
Pdk4 C T 6: 5,487,093 (GRCm39) V318M probably benign Het
Phc2 C T 4: 128,603,401 (GRCm39) T177M probably damaging Het
Phldb1 A T 9: 44,626,669 (GRCm39) L592Q probably damaging Het
Pigr A G 1: 130,769,423 (GRCm39) Y78C probably damaging Het
Pnkp T A 7: 44,507,960 (GRCm39) Y94* probably null Het
Polr2b T C 5: 77,473,614 (GRCm39) V310A possibly damaging Het
Pramel21 A G 4: 143,342,570 (GRCm39) I226V possibly damaging Het
Prl7d1 T A 13: 27,894,054 (GRCm39) I171L probably benign Het
Rpusd4 A G 9: 35,184,017 (GRCm39) Y224C probably damaging Het
Scara5 C A 14: 65,997,057 (GRCm39) R390S possibly damaging Het
Scin C T 12: 40,129,804 (GRCm39) V330I probably benign Het
Sdr42e1 T A 8: 118,390,007 (GRCm39) R211S probably benign Het
Slc36a3 C A 11: 55,020,495 (GRCm39) A292S probably benign Het
Spata31d1a T C 13: 59,848,924 (GRCm39) D1068G probably benign Het
Srd5a1 T A 13: 69,759,338 (GRCm39) D10V probably damaging Het
Sspo G T 6: 48,469,823 (GRCm39) C4507F probably damaging Het
Tmem94 G A 11: 115,688,797 (GRCm39) E1335K probably damaging Het
Tnfrsf13b C T 11: 61,031,742 (GRCm39) Q28* probably null Het
Tspan3 A T 9: 56,054,438 (GRCm39) F88I probably benign Het
Ttn T C 2: 76,592,519 (GRCm39) K20871R probably benign Het
Ube2j2 C A 4: 156,041,795 (GRCm39) Y263* probably null Het
Vcan T C 13: 89,839,977 (GRCm39) T1856A probably benign Het
Vrk3 T C 7: 44,413,585 (GRCm39) L218P probably damaging Het
Zfp236 G T 18: 82,657,461 (GRCm39) H761N probably damaging Het
Zfp462 C A 4: 55,011,907 (GRCm39) A1291E probably damaging Het
Zfp827 T A 8: 79,844,887 (GRCm39) S686T possibly damaging 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
R5104: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
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'- GCTGAAGCAGGGTAGTAACC -3'
(R):5'- TCCTTACAGTGATGGGTTTCC -3'

Sequencing Primer
(F):5'- GGTAGTAACCCACACGAGAG -3'
(R):5'- AGGTTACTAAAGACAGTAAATTGCAG -3'
Posted On 2020-01-23