Incidental Mutation 'IGL03281:Dll1'
ID415604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dll1
Ensembl Gene ENSMUSG00000014773
Gene Namedelta like canonical Notch ligand 1
SynonymsDelta1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03281
Quality Score
Status
Chromosome17
Chromosomal Location15367354-15376872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 15373604 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 167 (R167L)
Ref Sequence ENSEMBL: ENSMUSP00000014917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014917] [ENSMUST00000143460]
Predicted Effect probably benign
Transcript: ENSMUST00000014917
AA Change: R167L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: R167L

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 probably benign
Transcript: ENSMUST00000143460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181251
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,880,775 R361H probably benign Het
A830010M20Rik A T 5: 107,503,876 T212S probably benign Het
Abcd2 G T 15: 91,151,673 T663K probably damaging Het
Bud23 C T 5: 135,063,887 R28H probably benign Het
Celsr2 T C 3: 108,412,940 Y852C probably damaging Het
Hmgxb4 A G 8: 75,024,162 T538A probably damaging Het
Hrh4 T C 18: 13,022,469 V355A possibly damaging Het
Hrnr A T 3: 93,322,851 E132V probably benign Het
Ighv7-1 A T 12: 113,896,951 probably benign Het
Kcnu1 A T 8: 25,892,077 Q485L probably null Het
Lrp1b T A 2: 40,725,514 M3626L probably benign Het
Magea6 G T X: 154,924,627 C144* probably null Het
Map1a G T 2: 121,305,060 R1881L probably damaging Het
Naip2 T A 13: 100,161,620 Y636F probably damaging Het
Olfr536 T A 7: 140,503,800 I220F probably damaging Het
Olfr791 T A 10: 129,526,403 F59I probably benign Het
Prg4 A G 1: 150,450,088 probably benign Het
Ptpn4 T G 1: 119,659,912 Q900H probably damaging Het
Ralgps1 A G 2: 33,172,416 probably null Het
Rasgrp4 C T 7: 29,146,025 A381V possibly damaging Het
Selenbp1 A T 3: 94,937,310 K93* probably null Het
Skint5 T A 4: 113,667,218 K855N unknown Het
Tssk4 T C 14: 55,650,428 V27A possibly damaging Het
Ttc39a C A 4: 109,433,022 Q310K possibly damaging Het
Utp18 C T 11: 93,875,958 V276I probably damaging Het
Vmn2r45 C A 7: 8,483,604 L228F 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
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
R5252:Dll1 UTSW 17 15368689 missense probably damaging 1.00
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
Posted On2016-08-02