Incidental Mutation 'R3776:Dll1'
ID 273612
Institutional Source Beutler Lab
Gene Symbol Dll1
Ensembl Gene ENSMUSG00000014773
Gene Name delta like canonical Notch ligand 1
Synonyms Delta1
MMRRC Submission 040874-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3776 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 15587616-15597134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15588786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 630 (S630G)
Ref Sequence ENSEMBL: ENSMUSP00000014917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014917]
AlphaFold Q61483
Predicted Effect probably benign
Transcript: ENSMUST00000014917
AA Change: S630G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: S630G

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:MNNL 21 93 2.2e-28 PFAM
DSL 158 220 3.91e-36 SMART
EGF 224 254 9.82e0 SMART
EGF 255 285 1.43e-1 SMART
EGF_CA 287 325 5.48e-12 SMART
EGF_CA 327 363 2.94e-12 SMART
EGF 368 402 3.54e-6 SMART
EGF_CA 404 440 8.5e-9 SMART
EGF_CA 442 478 2.08e-12 SMART
EGF 483 516 4.59e-5 SMART
transmembrane domain 545 567 N/A INTRINSIC
low complexity region 578 589 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152416
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos do not survive and have mesodermal segments with no cranio-caudal polarity and no epithelial somites develop; caudal sclerotome halves do not condense, the pattern. Mice heterozygous for a knock-out or ENU allele exhibit abnormal metabolic and immunological phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 C T 17: 57,262,111 (GRCm39) V264M probably damaging Het
Adgrg1 C T 8: 95,736,283 (GRCm39) S479F probably damaging Het
Ank2 T A 3: 126,735,911 (GRCm39) probably benign Het
Atp2b1 CTTTTT CTTTTTT 10: 98,815,731 (GRCm39) probably null Het
Ccdc88c G A 12: 100,913,438 (GRCm39) T529M probably damaging Het
Cdc27 T G 11: 104,406,263 (GRCm39) E617D probably damaging Het
Cfap54 A G 10: 92,880,962 (GRCm39) V367A probably damaging Het
Col6a4 G A 9: 105,928,900 (GRCm39) Q1445* probably null Het
Crispld2 T C 8: 120,756,005 (GRCm39) S325P probably damaging Het
Ednra A G 8: 78,401,724 (GRCm39) S189P probably damaging Het
Eif6 T A 2: 155,668,296 (GRCm39) T20S possibly damaging Het
Fbxl5 A G 5: 43,915,618 (GRCm39) V555A possibly damaging Het
Gdpd5 G A 7: 99,103,779 (GRCm39) R422Q probably benign Het
Glt1d1 T A 5: 127,771,375 (GRCm39) F289I probably damaging Het
Gm5565 T A 5: 146,095,419 (GRCm39) E192V probably benign Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
Helz2 G A 2: 180,882,182 (GRCm39) R204* probably null Het
Hhex A T 19: 37,425,718 (GRCm39) Q149L probably damaging Het
Kat2b A G 17: 53,874,609 (GRCm39) probably null Het
Kif23 G A 9: 61,832,274 (GRCm39) S623L probably benign Het
Klra2 A T 6: 131,219,926 (GRCm39) L85H probably benign Het
Krt32 A G 11: 99,978,947 (GRCm39) C36R probably benign Het
Megf10 G A 18: 57,410,177 (GRCm39) G653S probably damaging Het
Mpp3 G T 11: 101,914,193 (GRCm39) S134* probably null Het
Mttp T C 3: 137,820,024 (GRCm39) probably null Het
Mxi1 C A 19: 53,360,160 (GRCm39) A294E probably benign Het
Nin G T 12: 70,085,456 (GRCm39) Q1592K possibly damaging Het
Nlrc5 A G 8: 95,199,467 (GRCm39) E26G possibly damaging Het
Nup160 G T 2: 90,552,420 (GRCm39) C1132F probably benign Het
Or4a15 A T 2: 89,193,108 (GRCm39) S222T possibly damaging Het
Pdgfc A G 3: 81,048,858 (GRCm39) T89A probably damaging Het
Pdgfrb A G 18: 61,214,992 (GRCm39) D1007G probably benign Het
Pgbd1 A G 13: 21,612,543 (GRCm39) L98P probably benign Het
Pkhd1l1 G A 15: 44,378,371 (GRCm39) probably null Het
Plod1 A G 4: 148,015,734 (GRCm39) V105A possibly damaging Het
Polg2 G T 11: 106,670,110 (GRCm39) F53L probably benign Het
Ptprc T G 1: 137,992,511 (GRCm39) Q1205H probably damaging Het
Rab3gap2 T C 1: 185,009,402 (GRCm39) L1086P probably damaging Het
Rnf19a T A 15: 36,266,058 (GRCm39) N13I probably benign Het
Slc25a19 A G 11: 115,506,285 (GRCm39) Y303H probably damaging Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trpm3 T C 19: 22,955,966 (GRCm39) F1143L possibly damaging Het
Ubxn11 C T 4: 133,835,605 (GRCm39) P4S probably damaging Het
Zg16 T A 7: 126,649,704 (GRCm39) I86F probably damaging Het
Other mutations in Dll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Dll1 APN 17 15,588,768 (GRCm39) missense probably damaging 0.98
IGL03006:Dll1 APN 17 15,593,854 (GRCm39) missense probably benign 0.00
IGL03218:Dll1 APN 17 15,593,830 (GRCm39) missense probably benign 0.14
IGL03281:Dll1 APN 17 15,593,866 (GRCm39) missense probably benign 0.03
R0054:Dll1 UTSW 17 15,589,216 (GRCm39) missense probably damaging 1.00
R1345:Dll1 UTSW 17 15,593,817 (GRCm39) nonsense probably null
R2290:Dll1 UTSW 17 15,595,010 (GRCm39) missense probably benign 0.00
R4620:Dll1 UTSW 17 15,590,828 (GRCm39) missense probably benign 0.03
R4837:Dll1 UTSW 17 15,589,121 (GRCm39) missense probably damaging 1.00
R4874:Dll1 UTSW 17 15,590,501 (GRCm39) missense probably benign 0.08
R5252:Dll1 UTSW 17 15,588,951 (GRCm39) missense probably damaging 1.00
R6726:Dll1 UTSW 17 15,590,513 (GRCm39) missense probably damaging 1.00
R7180:Dll1 UTSW 17 15,595,131 (GRCm39) missense probably benign 0.03
R7453:Dll1 UTSW 17 15,595,151 (GRCm39) missense probably benign 0.18
R7542:Dll1 UTSW 17 15,590,609 (GRCm39) missense probably damaging 1.00
R7915:Dll1 UTSW 17 15,588,690 (GRCm39) missense probably damaging 0.97
R9035:Dll1 UTSW 17 15,588,959 (GRCm39) missense probably benign 0.00
R9417:Dll1 UTSW 17 15,593,710 (GRCm39) missense probably damaging 1.00
R9709:Dll1 UTSW 17 15,591,198 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TGGTTGAACGCGGATATACCC -3'
(R):5'- AGCGCTACATGTGTGAGTGC -3'

Sequencing Primer
(F):5'- AGAACATGGACCGGTCTCC -3'
(R):5'- TACATGTGTGAGTGCGCCCAG -3'
Posted On 2015-03-25