Incidental Mutation 'R9518:Dlx6'
ID 718704
Institutional Source Beutler Lab
Gene Symbol Dlx6
Ensembl Gene ENSMUSG00000029754
Gene Name distal-less homeobox 6
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9518 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 6863334-6868568 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6863406 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 9 (D9E)
Ref Sequence ENSEMBL: ENSMUSP00000124204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031768] [ENSMUST00000160937] [ENSMUST00000171311]
AlphaFold no structure available at present
Predicted Effect probably benign
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 probably damaging
Transcript: ENSMUST00000160937
AA Change: D9E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754
AA Change: D9E

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: D9E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754
AA Change: D9E

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: 99.1%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A T 19: 29,754,141 H490Q possibly damaging Het
Abcf2 T C 5: 24,566,562 T556A possibly damaging Het
B230104I21Rik G T 4: 154,349,547 E63* probably null Het
Brpf1 A G 6: 113,309,834 K8E possibly damaging Het
Cacna1i G A 15: 80,387,777 G1582D probably damaging Het
Ccdc162 T A 10: 41,589,576 D1428V probably damaging Het
Ccdc178 G A 18: 22,145,459 T69I possibly damaging Het
Ccdc62 T A 5: 123,951,225 L309I possibly damaging Het
Ces5a T C 8: 93,530,802 N125S probably damaging Het
Cps1 G T 1: 67,220,503 V1335L probably damaging Het
Desi2 A G 1: 178,187,926 N4S probably benign Het
Dnah12 A C 14: 26,773,756 D198A probably damaging Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,760,867 probably null Het
Dpp8 T C 9: 65,074,584 M716T possibly damaging Het
Dvl3 T A 16: 20,517,211 I6N possibly damaging Het
Egflam A G 15: 7,289,782 probably null Het
Eprs A T 1: 185,379,566 M258L probably benign Het
Etnk1 A T 6: 143,203,418 M352L probably benign Het
Fam124a A C 14: 62,587,498 D147A probably damaging Het
Fstl4 A G 11: 53,165,820 D468G possibly damaging Het
Grm8 T A 6: 27,429,470 Q475L probably benign Het
Kel T C 6: 41,702,400 E143G probably damaging Het
Kif21a A G 15: 90,956,473 Y1147H probably damaging Het
Kndc1 A G 7: 139,939,914 K1729E probably damaging Het
Map4k1 G A 7: 28,994,071 R433H probably benign Het
Mettl14 T C 3: 123,374,038 I224V probably benign Het
Mgat5b A G 11: 116,978,473 N614S probably benign Het
Mlh3 C T 12: 85,266,230 V1061I probably benign Het
Myo1h T C 5: 114,359,527 V27A probably damaging Het
Naip5 A T 13: 100,221,859 H956Q probably benign Het
Olfr1341 A G 4: 118,709,923 N172S probably damaging Het
Olfr746 A T 14: 50,653,644 M136L probably damaging Het
Papd4 A G 13: 93,184,104 I147T probably benign Het
Pcdh7 A T 5: 57,913,171 T1064S possibly damaging Het
Peg3 T C 7: 6,711,281 E314G probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,218,068 probably benign Het
Pgr A T 9: 8,922,644 D605V probably damaging Het
Prdm2 T C 4: 143,134,009 S904G possibly damaging Het
Prpf8 T C 11: 75,503,660 I1807T possibly damaging Het
Serpinb3c T A 1: 107,272,738 Q225L probably damaging Het
Soga3 T A 10: 29,146,752 C32S probably benign Het
Strn3 A C 12: 51,650,173 D258E probably damaging Het
Tgm2 C T 2: 158,143,129 R19H probably benign Het
Themis T A 10: 28,668,752 probably null Het
Trim28 C T 7: 13,030,518 P753S probably damaging Het
Vac14 C T 8: 110,715,438 Q683* probably null Het
Vwa1 G A 4: 155,772,879 P154L probably damaging Het
Zfp541 T C 7: 16,079,111 I563T possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- GTGAGGAAGAGAACCACCTCTG -3'
(R):5'- CAGTGCAGAGGGTAATGTGC -3'

Sequencing Primer
(F):5'- GAGAACCACCTCTGCCCCC -3'
(R):5'- TAATGTGCGCCTGCCATG -3'
Posted On 2022-07-18