Incidental Mutation 'R8358:Dlx1'
ID 645846
Institutional Source Beutler Lab
Gene Symbol Dlx1
Ensembl Gene ENSMUSG00000041911
Gene Name distal-less homeobox 1
Synonyms Dlx-1, DII B, Dlx
MMRRC Submission 067871-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.891) question?
Stock # R8358 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 71358457-71364325 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 71360652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037119] [ENSMUST00000037119] [ENSMUST00000126400] [ENSMUST00000145444] [ENSMUST00000152711]
AlphaFold Q64317
Predicted Effect probably null
Transcript: ENSMUST00000037119
SMART Domains Protein: ENSMUSP00000042413
Gene: ENSMUSG00000041911

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 probably null
Transcript: ENSMUST00000037119
SMART Domains Protein: ENSMUSP00000042413
Gene: ENSMUSG00000041911

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 probably benign
Transcript: ENSMUST00000126400
Predicted Effect probably benign
Transcript: ENSMUST00000145444
SMART Domains Protein: ENSMUSP00000134713
Gene: ENSMUSG00000041911

DomainStartEndE-ValueType
low complexity region 25 36 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (49/49)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,367,796 (GRCm39) S52P possibly damaging Het
Adamts19 G T 18: 59,181,881 (GRCm39) G1107C probably damaging Het
Afap1 A T 5: 36,131,830 (GRCm39) T386S probably benign Het
Alg12 T C 15: 88,695,503 (GRCm39) Y331C probably null Het
Aste1 T A 9: 105,274,255 (GRCm39) I165N probably damaging Het
Atp13a5 A G 16: 29,167,805 (GRCm39) I118T probably damaging Het
AW551984 A G 9: 39,510,651 (GRCm39) V228A probably damaging Het
Cachd1 A G 4: 100,816,668 (GRCm39) Y357C possibly damaging Het
Cacul1 T A 19: 60,551,673 (GRCm39) H183L possibly damaging Het
Casp16 T A 17: 23,772,348 (GRCm39) I39F probably damaging Het
Chd7 G T 4: 8,839,529 (GRCm39) C1355F probably damaging Het
Csnk1a1 A G 18: 61,713,610 (GRCm39) probably null Het
Ctif G A 18: 75,698,115 (GRCm39) H182Y possibly damaging Het
Cubn C T 2: 13,329,971 (GRCm39) V2637I probably benign Het
Dsp A G 13: 38,376,457 (GRCm39) N1414S possibly damaging Het
Erich6 A T 3: 58,544,449 (GRCm39) L46* probably null Het
Fcho2 G A 13: 98,862,282 (GRCm39) R804* probably null Het
Gas7 T A 11: 67,543,734 (GRCm39) I114N probably benign Het
Gpr137b T C 13: 13,533,929 (GRCm39) T376A probably benign Het
H2-T24 T C 17: 36,328,229 (GRCm39) M85V probably benign Het
Klk1b16 T A 7: 43,790,185 (GRCm39) C152S probably damaging Het
Lrrc31 G A 3: 30,753,932 (GRCm39) probably benign Het
Magt1 C T X: 105,040,501 (GRCm39) A100T probably benign Het
Mki67 T C 7: 135,301,855 (GRCm39) K1060E possibly damaging Het
Nif3l1 A T 1: 58,491,288 (GRCm39) T213S probably benign Het
Oasl1 T A 5: 115,075,465 (GRCm39) F508L probably benign Het
Or10ak8 A T 4: 118,773,723 (GRCm39) *314R probably null Het
Or2a25 T C 6: 42,888,976 (GRCm39) V173A possibly damaging Het
Or4a80 C T 2: 89,582,423 (GRCm39) V250I probably benign Het
Or5b122 T C 19: 13,562,764 (GRCm39) L32P probably damaging Het
Psg23 T C 7: 18,348,522 (GRCm39) D95G probably benign Het
Ptprr T C 10: 115,884,180 (GRCm39) I79T probably benign Het
Resf1 C T 6: 149,228,076 (GRCm39) T374I probably damaging Het
Rhbg T A 3: 88,152,525 (GRCm39) N340Y probably damaging Het
Sash1 C A 10: 8,605,745 (GRCm39) V882L probably benign Het
Sharpin C T 15: 76,232,197 (GRCm39) V220I probably damaging Het
Slc22a22 T A 15: 57,108,243 (GRCm39) D524V probably damaging Het
Slc43a3 T C 2: 84,780,860 (GRCm39) Y362H probably benign Het
Slc4a3 T A 1: 75,530,359 (GRCm39) D687E probably damaging Het
Slco1a5 A G 6: 142,208,411 (GRCm39) S127P probably benign Het
Spg11 T C 2: 121,910,739 (GRCm39) I1213V possibly damaging Het
Synj2 T A 17: 6,074,080 (GRCm39) Y813* probably null Het
Tbc1d10a T C 11: 4,155,837 (GRCm39) M131T probably damaging Het
Tnfrsf19 C A 14: 61,208,634 (GRCm39) V296F probably benign Het
Trim45 T C 3: 100,834,634 (GRCm39) V439A probably damaging Het
Trim54 A G 5: 31,294,338 (GRCm39) T325A probably benign Het
Usp40 T C 1: 87,908,770 (GRCm39) E577G possibly damaging Het
Uts2r T A 11: 121,051,345 (GRCm39) Y70N probably damaging Het
Vmn1r72 T G 7: 11,404,310 (GRCm39) D46A probably damaging Het
Zfc3h1 T C 10: 115,240,198 (GRCm39) V577A probably benign Het
Zfp987 T G 4: 146,061,343 (GRCm39) H258Q 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
R6867: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
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'- TGCACTGTTTACACTCGGCG -3'
(R):5'- CCTTTGCTGGACAGTTGTAAATTG -3'

Sequencing Primer
(F):5'- TTACACTCGGCGGGCCATTC -3'
(R):5'- TTTTCTTTTCAGTGACAAGGATCCAC -3'
Posted On 2020-09-02