Incidental Mutation 'R6726:Dll1'
ID 529883
Institutional Source Beutler Lab
Gene Symbol Dll1
Ensembl Gene ENSMUSG00000014773
Gene Name delta like canonical Notch ligand 1
Synonyms Delta1
MMRRC Submission 044844-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6726 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 15587616-15597134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 15590513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 401 (C401F)
Ref Sequence ENSEMBL: ENSMUSP00000014917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014917] [ENSMUST00000143460]
AlphaFold Q61483
Predicted Effect probably damaging
Transcript: ENSMUST00000014917
AA Change: C401F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: C401F

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 probably benign
Transcript: ENSMUST00000143460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181251
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Arfgef2 T A 2: 166,735,540 (GRCm39) probably null Het
Arsk T C 13: 76,222,907 (GRCm39) Y230C probably damaging Het
Atf7ip G A 6: 136,559,389 (GRCm39) V737M probably damaging Het
Atp6v1e1 A T 6: 120,781,011 (GRCm39) probably null Het
Bbs9 T C 9: 22,557,260 (GRCm39) V3A probably benign Het
Brap T C 5: 121,813,365 (GRCm39) S243P probably damaging Het
Camkmt T A 17: 85,702,037 (GRCm39) I167N probably damaging Het
Ckap2l C A 2: 129,111,114 (GRCm39) E694D probably damaging Het
Crmp1 G A 5: 37,441,408 (GRCm39) V497I probably benign Het
Dbx2 A G 15: 95,522,741 (GRCm39) V322A possibly damaging Het
Dock10 T C 1: 80,490,147 (GRCm39) T1991A probably damaging Het
Dock3 C T 9: 107,036,651 (GRCm39) W42* probably null Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Hdac1-ps A G 17: 78,800,287 (GRCm39) E426G probably damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Irs2 T C 8: 11,054,961 (GRCm39) N1157S possibly damaging Het
Kndc1 T C 7: 139,502,667 (GRCm39) probably null Het
Map3k19 T C 1: 127,748,185 (GRCm39) N1241S probably benign Het
Or9g4b T C 2: 85,615,906 (GRCm39) F17S possibly damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pcdh17 T A 14: 84,683,657 (GRCm39) D41E probably damaging Het
Plg T G 17: 12,597,595 (GRCm39) L14R probably damaging Het
Prkab1 A G 5: 116,158,092 (GRCm39) V168A probably benign Het
Prr35 G C 17: 26,166,689 (GRCm39) P283A probably benign Het
Ptdss1 C T 13: 67,101,595 (GRCm39) R95* probably null Het
Rab3gap2 T G 1: 184,980,062 (GRCm39) S327A probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Homo
Sdr42e2 T C 7: 120,425,332 (GRCm39) S308P probably damaging Het
Senp8 C A 9: 59,644,473 (GRCm39) V228L probably benign Het
Serpina10 A T 12: 103,594,628 (GRCm39) I197K probably benign Het
Serpinb6d A G 13: 33,854,718 (GRCm39) N231S probably benign Het
Sez6l2 T C 7: 126,567,177 (GRCm39) V869A probably damaging Het
Sgo2b T A 8: 64,380,769 (GRCm39) K688* probably null Het
Sh3kbp1 A T X: 158,624,176 (GRCm39) E39D probably benign Homo
Ufsp2 T C 8: 46,438,504 (GRCm39) M194T probably benign Het
Ush2a T C 1: 188,485,881 (GRCm39) I2997T possibly damaging Het
Vmn2r107 G A 17: 20,595,637 (GRCm39) G730D probably damaging Het
Wdr72 T C 9: 74,059,822 (GRCm39) Y411H possibly damaging Het
Xirp2 T C 2: 67,343,212 (GRCm39) S1818P possibly 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
R3776:Dll1 UTSW 17 15,588,786 (GRCm39) missense probably benign
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
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'- ACCAGGTCATTCCTTGCATTATG -3'
(R):5'- TTGAGGACAGCTTCTCTTGC -3'

Sequencing Primer
(F):5'- CCTTGCATTATGAGTATGACACC -3'
(R):5'- AGGACAGCTTCTCTTGCACCTG -3'
Posted On 2018-08-01