Incidental Mutation 'R6867:Dlx1'
ID 535958
Institutional Source Beutler Lab
Gene Symbol Dlx1
Ensembl Gene ENSMUSG00000041911
Gene Name distal-less homeobox 1
Synonyms Dlx-1, DII B, Dlx
MMRRC Submission 045028-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.913) question?
Stock # R6867 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 71358457-71364325 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 71361353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 122 (N122K)
Ref Sequence ENSEMBL: ENSMUSP00000042413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037119] [ENSMUST00000126400] [ENSMUST00000152711] [ENSMUST00000145444]
AlphaFold Q64317
Predicted Effect probably damaging
Transcript: ENSMUST00000037119
AA Change: N122K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042413
Gene: ENSMUSG00000041911
AA Change: N122K

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
HOX 128 190 2.05e-23 SMART
low complexity region 208 232 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122990
Predicted Effect probably benign
Transcript: ENSMUST00000126400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172629
SMART Domains Protein: ENSMUSP00000134335
Gene: ENSMUSG00000041911

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152711
SMART Domains Protein: ENSMUSP00000133288
Gene: ENSMUSG00000041911

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145444
SMART Domains Protein: ENSMUSP00000134713
Gene: ENSMUSG00000041911

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: The protein encoded by this gene is a homeobox-containing transcription factor involved in development. The encoded protein plays a role in craniofacial patterning, as well as in bone, placenta, and sensory organ formation. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mutants show morphogenetic abnormalities in first and second branchial arch-derived proximal skeletal and soft tissue structures; in double mutants with a Dlx2 null allele, maxillary molar teeth are missing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apold1 T C 6: 134,961,019 (GRCm39) S158P possibly damaging Het
Cep162 A T 9: 87,099,134 (GRCm39) L788* probably null Het
Cyp7b1 T C 3: 18,151,394 (GRCm39) Y273C probably damaging Het
Dock10 A T 1: 80,508,976 (GRCm39) I1605K probably damaging Het
Enox1 T C 14: 77,936,739 (GRCm39) probably null Het
F3 T C 3: 121,523,020 (GRCm39) S77P possibly damaging Het
Fam186a T A 15: 99,843,731 (GRCm39) I838L unknown Het
Flrt2 T C 12: 95,746,156 (GRCm39) F165L probably damaging Het
Gcgr T A 11: 120,427,295 (GRCm39) V135E possibly damaging Het
Gm6741 T C 17: 91,544,339 (GRCm39) L34P probably benign Het
Gna13 T C 11: 109,286,948 (GRCm39) M257T possibly damaging Het
Hsd11b2 G A 8: 106,248,949 (GRCm39) R147H probably benign Het
Hydin A G 8: 111,266,434 (GRCm39) Y2865C probably benign Het
Igdcc3 A G 9: 65,090,320 (GRCm39) N610D probably damaging Het
Ipp T A 4: 116,367,606 (GRCm39) probably null Het
Kdm5d A G Y: 927,425 (GRCm39) T682A probably benign Het
Megf8 A G 7: 25,030,460 (GRCm39) Y471C probably benign Het
Mprip T C 11: 59,640,456 (GRCm39) probably null Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Myrfl T A 10: 116,684,187 (GRCm39) R179* probably null Het
Nek1 C A 8: 61,525,364 (GRCm39) Q601K possibly damaging Het
Neurod4 C G 10: 130,106,583 (GRCm39) K230N probably damaging Het
Or1ab2 C T 8: 72,863,707 (GRCm39) T99I possibly damaging Het
Or8u10 A G 2: 85,916,082 (GRCm39) I13T possibly damaging Het
Orc3 A G 4: 34,605,539 (GRCm39) L114P probably damaging Het
Rag1 T C 2: 101,472,292 (GRCm39) D950G probably damaging Het
Rasgrp2 G A 19: 6,463,213 (GRCm39) S504N probably benign Het
Rgl2 A G 17: 34,151,661 (GRCm39) D235G probably benign Het
Slc35e2 A G 4: 155,703,157 (GRCm39) E390G probably benign Het
Slc39a1 T A 3: 90,156,759 (GRCm39) V105E probably damaging Het
Tesk2 T A 4: 116,658,995 (GRCm39) C291S probably damaging Het
Tmco3 T A 8: 13,363,927 (GRCm39) F83Y probably damaging Het
Trim25 T C 11: 88,901,713 (GRCm39) I336T probably benign Het
Ush2a A G 1: 188,643,170 (GRCm39) I4177M probably damaging Het
Veph1 T A 3: 66,162,458 (GRCm39) T67S probably damaging Het
Vmn2r43 A G 7: 8,258,125 (GRCm39) F363L probably benign Het
Vps28 A T 15: 76,506,871 (GRCm39) I109N probably damaging Het
Vps50 A G 6: 3,517,835 (GRCm39) D91G probably benign Het
Wdr20 T C 12: 110,760,133 (GRCm39) F340L probably benign Het
Wdr95 A G 5: 149,504,388 (GRCm39) probably null Het
Zfand6 A G 7: 84,265,122 (GRCm39) V193A probably damaging Het
Zfp703 C A 8: 27,468,668 (GRCm39) P111T probably damaging Het
Other mutations in Dlx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3125:Dlx1 UTSW 2 71,362,740 (GRCm39) missense probably damaging 0.99
R5975:Dlx1 UTSW 2 71,361,353 (GRCm39) missense probably damaging 1.00
R6981:Dlx1 UTSW 2 71,362,697 (GRCm39) missense probably benign 0.30
R7219:Dlx1 UTSW 2 71,360,513 (GRCm39) nonsense probably null
R7231:Dlx1 UTSW 2 71,362,840 (GRCm39) missense possibly damaging 0.93
R8295:Dlx1 UTSW 2 71,362,726 (GRCm39) missense probably benign 0.24
R8358:Dlx1 UTSW 2 71,360,652 (GRCm39) critical splice donor site probably null
R9486:Dlx1 UTSW 2 71,362,828 (GRCm39) missense probably damaging 0.98
R9647:Dlx1 UTSW 2 71,360,476 (GRCm39) missense probably benign 0.02
Z1177:Dlx1 UTSW 2 71,360,359 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAACGTTCTTTTCCGGACCC -3'
(R):5'- CTGTGACACCTAGAACCAGAG -3'

Sequencing Primer
(F):5'- GGACCCTACTTCTGCCAAC -3'
(R):5'- CAGCTCCCGAGGCTTGTTTG -3'
Posted On 2018-10-18