Incidental Mutation 'IGL03218:Dll1'
ID 413555
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 # IGL03218
Quality Score
Status
Chromosome 17
Chromosomal Location 15587616-15597134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15593830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 179 (D179G)
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: D179G

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: D179G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,561,727 (GRCm39) probably null Het
Acot9 T A X: 154,078,207 (GRCm39) V251E possibly damaging Het
Agtpbp1 A G 13: 59,648,021 (GRCm39) S600P possibly damaging Het
Amfr A T 8: 94,726,964 (GRCm39) M157K probably damaging Het
Arvcf T C 16: 18,222,875 (GRCm39) probably benign Het
Ascc3 T C 10: 50,699,949 (GRCm39) V1924A possibly damaging Het
Atp10a T A 7: 58,438,196 (GRCm39) probably null Het
Atp1a2 T A 1: 172,116,870 (GRCm39) E249V probably null Het
C1qc A G 4: 136,617,598 (GRCm39) L166P probably damaging Het
Col4a3 C A 1: 82,620,927 (GRCm39) probably benign Het
Def8 A G 8: 124,183,175 (GRCm39) D258G probably damaging Het
Dnah14 C A 1: 181,582,834 (GRCm39) H3124Q probably benign Het
Fabp5 T A 3: 10,080,023 (GRCm39) probably benign Het
Fam133b C T 5: 3,604,684 (GRCm39) Q24* probably null Het
Fam13c A C 10: 70,284,599 (GRCm39) D25A possibly damaging Het
Flna A G X: 73,278,208 (GRCm39) probably null Het
Frem1 T A 4: 82,832,883 (GRCm39) T1917S probably benign Het
Frmd4b T C 6: 97,285,075 (GRCm39) T337A probably benign Het
Fxyd7 C T 7: 30,743,995 (GRCm39) probably null Het
Galnt5 T G 2: 57,889,401 (GRCm39) S334A possibly damaging Het
Gm10220 T C 5: 26,323,696 (GRCm39) K117R probably damaging Het
Gpd2 T A 2: 57,197,066 (GRCm39) L207H probably damaging Het
H2-M10.3 T A 17: 36,678,279 (GRCm39) Y182F probably damaging Het
Itga8 T C 2: 12,115,836 (GRCm39) I1018V possibly damaging Het
Letmd1 T C 15: 100,367,709 (GRCm39) F89S probably damaging Het
Mcm3ap A G 10: 76,318,567 (GRCm39) Y696C probably damaging Het
Mcpt9 A G 14: 56,264,908 (GRCm39) Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 (GRCm39) V29A probably benign Het
Myom1 A G 17: 71,391,311 (GRCm39) D940G possibly damaging Het
Myzap A G 9: 71,462,871 (GRCm39) M225T probably benign Het
Naa25 A G 5: 121,564,133 (GRCm39) Y516C probably damaging Het
Nsdhl T A X: 72,000,052 (GRCm39) probably benign Het
Olfml1 A G 7: 107,170,476 (GRCm39) E121G possibly damaging Het
Or11j4 A T 14: 50,631,115 (GRCm39) M301L probably damaging Het
Or4a72 A G 2: 89,405,935 (GRCm39) V45A probably benign Het
Or8k38 A G 2: 86,488,703 (GRCm39) I33T probably benign Het
Phex C T X: 155,961,783 (GRCm39) G636E probably damaging Het
Pkd2l2 A T 18: 34,563,373 (GRCm39) I475F probably damaging Het
Polr2b T A 5: 77,463,764 (GRCm39) S54T probably benign Het
Prkx A T X: 76,829,806 (GRCm39) L85Q probably damaging Het
Smc1b A T 15: 84,973,914 (GRCm39) I914N probably benign Het
Susd2 A G 10: 75,478,459 (GRCm39) L39P probably benign Het
Teddm2 C T 1: 153,726,770 (GRCm39) V35I probably benign Het
Tspo T A 15: 83,455,631 (GRCm39) V6E possibly damaging Het
Vps41 G T 13: 19,013,440 (GRCm39) V353F possibly damaging Het
Wfdc18 T A 11: 83,600,033 (GRCm39) probably null Het
Wsb1 C T 11: 79,139,324 (GRCm39) S124N probably damaging Het
Zfp445 T C 9: 122,686,594 (GRCm39) E177G probably benign Het
Zfp759 G T 13: 67,287,480 (GRCm39) V344L probably benign 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
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