Incidental Mutation 'IGL03006:Dll1'
ID 407565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dll1
Ensembl Gene ENSMUSG00000014773
Gene Name delta like canonical Notch ligand 1
Synonyms Delta1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03006
Quality Score
Status
Chromosome 17
Chromosomal Location 15587616-15597134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15593854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 171 (R171Q)
Ref Sequence ENSEMBL: ENSMUSP00000014917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014917] [ENSMUST00000143460]
AlphaFold Q61483
Predicted Effect probably benign
Transcript: ENSMUST00000014917
AA Change: R171Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: R171Q

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,718,671 (GRCm39) S21C probably damaging Het
2210408I21Rik T C 13: 77,471,891 (GRCm39) probably null Het
Abcc3 T C 11: 94,259,421 (GRCm39) D340G probably benign Het
Adamts17 G T 7: 66,728,095 (GRCm39) R879L possibly damaging Het
Adissp A C 2: 130,993,634 (GRCm39) D22E probably damaging Het
Cacna1f C A X: 7,493,142 (GRCm39) T1275K probably damaging Het
Csmd2 T A 4: 128,374,558 (GRCm39) probably benign Het
Dnm1 T A 2: 32,243,133 (GRCm39) D30V possibly damaging Het
Fam184a G A 10: 53,574,793 (GRCm39) S216L probably damaging Het
Fbxo33 G A 12: 59,251,105 (GRCm39) A470V probably benign Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Ighv7-1 A T 12: 113,860,145 (GRCm39) S82R probably damaging Het
Klk1b4 A G 7: 43,861,019 (GRCm39) I221V probably benign Het
Lama3 T C 18: 12,601,425 (GRCm39) probably benign Het
Lrch1 A G 14: 75,051,060 (GRCm39) L359P probably damaging Het
Mapk8ip3 T C 17: 25,120,489 (GRCm39) T882A probably benign Het
Med12 C T X: 100,321,684 (GRCm39) R456W probably damaging Het
Mms22l T C 4: 24,521,253 (GRCm39) S267P probably damaging Het
Mtpap G A 18: 4,375,721 (GRCm39) G34R possibly damaging Het
Nf1 G A 11: 79,436,257 (GRCm39) D1966N probably damaging Het
Nlrp9c G A 7: 26,071,507 (GRCm39) T867I probably damaging Het
Nrap C T 19: 56,335,596 (GRCm39) V941I probably benign Het
Or5k1b T A 16: 58,581,511 (GRCm39) K9N probably benign Het
Pcdh10 A G 3: 45,333,937 (GRCm39) I84V probably damaging Het
Polr3d T A 14: 70,678,603 (GRCm39) probably null Het
Prkar2a G T 9: 108,617,640 (GRCm39) V233L probably benign Het
Prl4a1 T C 13: 28,207,359 (GRCm39) V211A probably damaging Het
Qpct T C 17: 79,378,151 (GRCm39) V107A probably benign Het
Rai1 T C 11: 60,079,031 (GRCm39) S1032P possibly damaging Het
Rims1 G T 1: 22,367,178 (GRCm39) T1113K probably damaging Het
Rxra C T 2: 27,649,657 (GRCm39) T454I probably damaging Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Scp2 T C 4: 107,948,477 (GRCm39) K167E probably benign Het
Sephs2 A G 7: 126,872,206 (GRCm39) F296L probably benign Het
Setd1b A G 5: 123,286,514 (GRCm39) E520G unknown Het
Slc28a2 G A 2: 122,283,019 (GRCm39) V308M possibly damaging Het
Smarcad1 T A 6: 65,060,873 (GRCm39) I451K probably benign Het
Tarbp1 C T 8: 127,170,881 (GRCm39) D1040N probably damaging Het
Tdrd6 T C 17: 43,936,323 (GRCm39) D1575G probably damaging Het
Tll1 T A 8: 64,527,251 (GRCm39) probably benign Het
Tsks A T 7: 44,600,198 (GRCm39) probably benign Het
Ttc1 A T 11: 43,636,147 (GRCm39) M32K probably benign Het
Txlnb C T 10: 17,714,723 (GRCm39) A385V probably damaging Het
Zc4h2 T C X: 94,687,019 (GRCm39) H98R probably damaging Het
Other mutations in Dll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Dll1 APN 17 15,588,768 (GRCm39) missense probably damaging 0.98
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
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
Posted On 2016-08-02