Incidental Mutation 'R5252:Dll1'
ID399146
Institutional Source Beutler Lab
Gene Symbol Dll1
Ensembl Gene ENSMUSG00000014773
Gene Namedelta like canonical Notch ligand 1
SynonymsDelta1
MMRRC Submission 042823-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5252 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location15367354-15376872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 15368689 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 575 (K575E)
Ref Sequence ENSEMBL: ENSMUSP00000014917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014917]
Predicted Effect probably damaging
Transcript: ENSMUST00000014917
AA Change: K575E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: K575E

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T A 4: 42,971,706 F346L probably benign Het
Alox12b G T 11: 69,165,936 R386L probably damaging Het
Ano8 A T 8: 71,482,617 Y346N probably damaging Het
Cabp4 T C 19: 4,136,068 probably benign Het
Canx A T 11: 50,308,794 I148N probably damaging Het
Ccdc141 A G 2: 77,132,249 V117A probably benign Het
Cdk12 A T 11: 98,243,509 N1078Y unknown Het
Cdk7 T A 13: 100,730,460 K42* probably null Het
Col6a5 T C 9: 105,940,290 D274G unknown Het
Cux1 T C 5: 136,308,297 E696G probably damaging Het
Cxxc1 C T 18: 74,219,951 A444V probably benign Het
Dnah11 A G 12: 118,125,941 F1130S probably damaging Het
Dnah2 A G 11: 69,529,469 F140L probably damaging Het
Dysf T C 6: 84,186,468 V1625A probably damaging Het
Evi5 T C 5: 107,795,752 T592A probably benign Het
Fam46c A G 3: 100,472,708 L244P probably damaging Het
Fas T C 19: 34,316,643 S133P probably damaging Het
Gpr139 A G 7: 119,145,204 S53P probably benign Het
H2-Q4 T C 17: 35,380,435 F165L probably benign Het
Ighv9-2 A G 12: 114,109,218 V45A probably benign Het
Inpp1 T G 1: 52,794,547 D130A probably benign Het
Lin54 C T 5: 100,480,204 V47I probably benign Het
Nav3 TGAAGAAGAAGAAGA TGAAGAAGAAGA 10: 109,714,291 probably benign Het
Nexn T C 3: 152,237,953 T438A probably benign Het
Olfr1217 A T 2: 89,023,254 F250I probably damaging Het
Olfr967 T G 9: 39,750,488 I34S probably damaging Het
Pilrb1 T A 5: 137,855,053 M163L probably benign Het
Pkhd1 A T 1: 20,350,411 probably null Het
Ppard G A 17: 28,298,848 V297I probably benign Het
Rabgap1 T C 2: 37,475,357 V214A probably benign Het
Serpinc1 T C 1: 160,989,621 F95S probably damaging Het
Slc5a8 T C 10: 88,906,347 Y302H probably damaging Het
Slco4a1 G A 2: 180,464,459 A145T possibly damaging Het
Sptlc2 A T 12: 87,336,055 M425K possibly damaging Het
Trp53bp1 A G 2: 121,243,983 S429P probably benign Het
Unc13a T A 8: 71,652,564 T723S probably damaging Het
Ush2a A T 1: 188,821,717 I3468F possibly damaging Het
Utp20 A T 10: 88,750,670 D2547E probably benign Het
Wnk4 A G 11: 101,268,748 D593G possibly damaging Het
Zfyve26 A G 12: 79,268,982 L1240P probably damaging Het
Other mutations in Dll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Dll1 APN 17 15368506 missense probably damaging 0.98
IGL03006:Dll1 APN 17 15373592 missense probably benign 0.00
IGL03218:Dll1 APN 17 15373568 missense probably benign 0.14
IGL03281:Dll1 APN 17 15373604 missense probably benign 0.03
R0054:Dll1 UTSW 17 15368954 missense probably damaging 1.00
R1345:Dll1 UTSW 17 15373555 nonsense probably null
R2290:Dll1 UTSW 17 15374748 missense probably benign 0.00
R3776:Dll1 UTSW 17 15368524 missense probably benign
R4620:Dll1 UTSW 17 15370566 missense probably benign 0.03
R4837:Dll1 UTSW 17 15368859 missense probably damaging 1.00
R4874:Dll1 UTSW 17 15370239 missense probably benign 0.08
R6726:Dll1 UTSW 17 15370251 missense probably damaging 1.00
R7180:Dll1 UTSW 17 15374869 missense probably benign 0.03
R7453:Dll1 UTSW 17 15374889 missense probably benign 0.18
R7542:Dll1 UTSW 17 15370347 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGACCTTAAAGCTGCTCTTC -3'
(R):5'- AGCGCTACATGTGTGAGTG -3'

Sequencing Primer
(F):5'- AAAGCTGCTCTTCTCGGC -3'
(R):5'- TACATGTGTGAGTGCGCCCAG -3'
Posted On2016-07-06