Incidental Mutation 'R0024:Dll3'
ID 15167
Institutional Source Beutler Lab
Gene Symbol Dll3
Ensembl Gene ENSMUSG00000003436
Gene Name delta like canonical Notch ligand 3
Synonyms
MMRRC Submission 038319-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # R0024 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 27992980-28001210 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 27999586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108315]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000108315
SMART Domains Protein: ENSMUSP00000103951
Gene: ENSMUSG00000003436

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:EGF 60 118 3e-18 BLAST
low complexity region 140 154 N/A INTRINSIC
low complexity region 183 198 N/A INTRINSIC
EGF 211 247 1.53e1 SMART
EGF 275 308 3.08e-6 SMART
EGF 313 349 8.25e-7 SMART
EGF 354 387 2.83e-5 SMART
EGF 392 425 1.04e-3 SMART
EGF 430 463 7.07e-6 SMART
transmembrane domain 489 511 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145512
Coding Region Coverage
  • 1x: 79.2%
  • 3x: 69.7%
  • 10x: 44.0%
  • 20x: 23.5%
Validation Efficiency 95% (75/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, a shortened body and tail, delayed and abnormal somite formation, a kinked neural tube, disorganized PNS elements, and severe axial skeletal dysplasia, including disorganized vertebrae and ribs defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Ahctf1 G A 1: 179,580,001 (GRCm39) T2067M probably damaging Het
Akip1 T C 7: 109,303,345 (GRCm39) S63P probably benign Het
Ankrd34c G A 9: 89,611,580 (GRCm39) P254S possibly damaging Het
Aqp8 T C 7: 123,066,663 (GRCm39) I256T probably benign Het
Arnt2 A G 7: 83,933,334 (GRCm39) V308A probably benign Het
Astn1 G A 1: 158,511,785 (GRCm39) S1209N probably damaging Het
Atf7ip T C 6: 136,576,818 (GRCm39) probably benign Het
Bbx T A 16: 50,045,281 (GRCm39) M427L probably benign Het
Cadm4 T C 7: 24,202,169 (GRCm39) L336P probably benign Het
Camk2d A G 3: 126,591,372 (GRCm39) M281V probably benign Het
Dennd2b T C 7: 109,123,866 (GRCm39) H1131R probably damaging Het
Dscam G A 16: 96,394,585 (GRCm39) R1906* probably null Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eif2ak3 A G 6: 70,869,340 (GRCm39) T676A probably benign Het
Entpd5 T C 12: 84,420,507 (GRCm39) M428T probably benign Het
Fry T G 5: 150,304,268 (GRCm39) S553A probably benign Het
Gls2 G A 10: 128,035,125 (GRCm39) R86H probably damaging Het
Gm14340 T A 2: 180,466,043 (GRCm39) noncoding transcript Het
Gm9457 A C 8: 4,863,131 (GRCm39) noncoding transcript Het
Hfm1 T C 5: 107,004,790 (GRCm39) K1179E probably benign Het
Iqgap1 T C 7: 80,401,687 (GRCm39) T473A probably benign Het
Krt34 A T 11: 99,931,863 (GRCm39) C119S probably benign Het
Krt6a A G 15: 101,599,150 (GRCm39) probably benign Het
Lysmd4 A G 7: 66,875,828 (GRCm39) T164A probably benign Het
Mroh2b T A 15: 4,955,109 (GRCm39) Y701N probably damaging Het
Pi4ka T C 16: 17,133,399 (GRCm39) probably benign Het
Plcb1 A G 2: 135,204,345 (GRCm39) S900G probably benign Het
Plxna2 T A 1: 194,326,303 (GRCm39) I79N possibly damaging Het
Prpf31 C A 7: 3,639,658 (GRCm39) probably null Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rsc1a1 T C 4: 141,412,583 (GRCm39) K110E probably benign Het
Sin3a T A 9: 57,025,537 (GRCm39) probably benign Het
Slc24a2 T C 4: 86,946,477 (GRCm39) probably benign Het
Slc6a3 A T 13: 73,688,956 (GRCm39) probably benign Het
Sugct G A 13: 17,032,454 (GRCm39) H433Y probably benign Het
Sycp2l A G 13: 41,295,264 (GRCm39) I310M probably damaging Het
Tpm3 C A 3: 89,994,756 (GRCm39) probably null Het
Ttc27 T C 17: 75,077,259 (GRCm39) F385L possibly damaging Het
Utrn A G 10: 12,281,755 (GRCm39) V3301A probably benign Het
Other mutations in Dll3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0138:Dll3 UTSW 7 28,000,746 (GRCm39) missense possibly damaging 0.88
R0322:Dll3 UTSW 7 27,995,793 (GRCm39) missense possibly damaging 0.88
R0479:Dll3 UTSW 7 28,000,974 (GRCm39) missense probably damaging 1.00
R1711:Dll3 UTSW 7 27,993,922 (GRCm39) missense probably damaging 0.98
R1742:Dll3 UTSW 7 27,993,848 (GRCm39) missense probably benign 0.37
R1854:Dll3 UTSW 7 27,995,835 (GRCm39) missense probably damaging 1.00
R1920:Dll3 UTSW 7 27,998,348 (GRCm39) missense probably benign
R3037:Dll3 UTSW 7 27,998,542 (GRCm39) missense probably damaging 0.99
R3158:Dll3 UTSW 7 27,993,520 (GRCm39) missense possibly damaging 0.50
R4306:Dll3 UTSW 7 28,001,082 (GRCm39) splice site probably null
R4424:Dll3 UTSW 7 27,995,716 (GRCm39) missense probably damaging 1.00
R4873:Dll3 UTSW 7 27,995,860 (GRCm39) missense probably damaging 1.00
R4875:Dll3 UTSW 7 27,995,860 (GRCm39) missense probably damaging 1.00
R5604:Dll3 UTSW 7 27,994,057 (GRCm39) missense probably benign
R5770:Dll3 UTSW 7 27,998,434 (GRCm39) missense possibly damaging 0.84
R5988:Dll3 UTSW 7 27,993,537 (GRCm39) missense probably damaging 0.98
R7204:Dll3 UTSW 7 27,998,330 (GRCm39) missense possibly damaging 0.95
R7347:Dll3 UTSW 7 27,998,536 (GRCm39) missense probably damaging 0.99
R7373:Dll3 UTSW 7 27,994,057 (GRCm39) missense probably benign
R7694:Dll3 UTSW 7 28,001,170 (GRCm39) start codon destroyed probably null 0.83
R7829:Dll3 UTSW 7 27,994,075 (GRCm39) missense probably damaging 0.99
R7905:Dll3 UTSW 7 28,000,960 (GRCm39) missense possibly damaging 0.61
R8681:Dll3 UTSW 7 27,994,270 (GRCm39) missense probably damaging 0.99
R8988:Dll3 UTSW 7 27,995,793 (GRCm39) missense possibly damaging 0.89
R9519:Dll3 UTSW 7 27,995,764 (GRCm39) missense probably damaging 0.96
Z1177:Dll3 UTSW 7 28,000,808 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-12