Incidental Mutation 'R0024:Dll3'
ID15167
Institutional Source Beutler Lab
Gene Symbol Dll3
Ensembl Gene ENSMUSG00000003436
Gene Namedelta like canonical Notch ligand 3
Synonyms
MMRRC Submission 038319-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.872) question?
Stock #R0024 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location28293553-28302238 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 28300161 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108315]
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: 83,728,284 T260A probably damaging Het
Ahctf1 G A 1: 179,752,436 T2067M probably damaging Het
Akip1 T C 7: 109,704,138 S63P probably benign Het
Ankrd34c G A 9: 89,729,527 P254S possibly damaging Het
Aqp8 T C 7: 123,467,440 I256T probably benign Het
Arnt2 A G 7: 84,284,126 V308A probably benign Het
Astn1 G A 1: 158,684,215 S1209N probably damaging Het
Atf7ip T C 6: 136,599,820 probably benign Het
Bbx T A 16: 50,224,918 M427L probably benign Het
Cadm4 T C 7: 24,502,744 L336P probably benign Het
Camk2d A G 3: 126,797,723 M281V probably benign Het
Dscam G A 16: 96,593,385 R1906* probably null Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Eif2ak3 A G 6: 70,892,356 T676A probably benign Het
Entpd5 T C 12: 84,373,733 M428T probably benign Het
Fry T G 5: 150,380,803 S553A probably benign Het
Gls2 G A 10: 128,199,256 R86H probably damaging Het
Gm14340 T A 2: 180,824,250 noncoding transcript Het
Gm9457 A C 8: 4,813,131 noncoding transcript Het
Hfm1 T C 5: 106,856,924 K1179E probably benign Het
Iqgap1 T C 7: 80,751,939 T473A probably benign Het
Krt34 A T 11: 100,041,037 C119S probably benign Het
Krt6a A G 15: 101,690,715 probably benign Het
Lysmd4 A G 7: 67,226,080 T164A probably benign Het
Mroh2b T A 15: 4,925,627 Y701N probably damaging Het
Pi4ka T C 16: 17,315,535 probably benign Het
Plcb1 A G 2: 135,362,425 S900G probably benign Het
Plxna2 T A 1: 194,643,995 I79N possibly damaging Het
Prpf31 C A 7: 3,636,659 probably null Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rsc1a1 T C 4: 141,685,272 K110E probably benign Het
Sin3a T A 9: 57,118,253 probably benign Het
Slc24a2 T C 4: 87,028,240 probably benign Het
Slc6a3 A T 13: 73,540,837 probably benign Het
St5 T C 7: 109,524,659 H1131R probably damaging Het
Sugct G A 13: 16,857,869 H433Y probably benign Het
Sycp2l A G 13: 41,141,788 I310M probably damaging Het
Tpm3 C A 3: 90,087,449 probably null Het
Ttc27 T C 17: 74,770,264 F385L possibly damaging Het
Utrn A G 10: 12,406,011 V3301A probably benign Het
Other mutations in Dll3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0138:Dll3 UTSW 7 28301321 missense possibly damaging 0.88
R0322:Dll3 UTSW 7 28296368 missense possibly damaging 0.88
R0479:Dll3 UTSW 7 28301549 missense probably damaging 1.00
R1711:Dll3 UTSW 7 28294497 missense probably damaging 0.98
R1742:Dll3 UTSW 7 28294423 missense probably benign 0.37
R1854:Dll3 UTSW 7 28296410 missense probably damaging 1.00
R1920:Dll3 UTSW 7 28298923 missense probably benign
R3037:Dll3 UTSW 7 28299117 missense probably damaging 0.99
R3158:Dll3 UTSW 7 28294095 missense possibly damaging 0.50
R4306:Dll3 UTSW 7 28301657 unclassified probably null
R4424:Dll3 UTSW 7 28296291 missense probably damaging 1.00
R4873:Dll3 UTSW 7 28296435 missense probably damaging 1.00
R4875:Dll3 UTSW 7 28296435 missense probably damaging 1.00
R5604:Dll3 UTSW 7 28294632 missense probably benign
R5770:Dll3 UTSW 7 28299009 missense possibly damaging 0.84
R5988:Dll3 UTSW 7 28294112 missense probably damaging 0.98
Posted On2012-12-12