Incidental Mutation 'R1014:Dll4'
ID 95961
Institutional Source Beutler Lab
Gene Symbol Dll4
Ensembl Gene ENSMUSG00000027314
Gene Name delta like canonical Notch ligand 4
Synonyms Delta4
MMRRC Submission 039118-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1014 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 119156265-119166147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119161638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 407 (C407R)
Ref Sequence ENSEMBL: ENSMUSP00000099575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102517]
AlphaFold Q9JI71
Predicted Effect probably damaging
Transcript: ENSMUST00000102517
AA Change: C407R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099575
Gene: ENSMUSG00000027314
AA Change: C407R

DomainStartEndE-ValueType
Pfam:MNNL 27 92 7.3e-21 PFAM
low complexity region 139 150 N/A INTRINSIC
DSL 156 218 1.98e-23 SMART
EGF 222 252 5.62e0 SMART
EGF 253 283 5.79e-2 SMART
EGF_CA 285 323 1.38e-8 SMART
EGF_CA 329 361 5.36e-6 SMART
EGF 366 401 4.35e-6 SMART
EGF 406 439 1.44e-6 SMART
EGF_CA 441 477 2.33e-6 SMART
EGF 484 519 9.33e-6 SMART
transmembrane domain 530 552 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156538
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality, absent vascular remodeling, small hearts, and embryonic growth retardation. Heterozygous null mice display background dependent partial or complete embryonic lethality, impaired vascular remodeling, and embryonic growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T C 4: 126,400,578 (GRCm39) R712G probably damaging Het
Arg1 C A 10: 24,792,758 (GRCm39) V159L probably benign Het
Caap1 C T 4: 94,437,383 (GRCm39) C193Y probably benign Het
Cdh12 A T 15: 21,492,706 (GRCm39) M242L probably damaging Het
Col19a1 A T 1: 24,340,354 (GRCm39) probably null Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
D430041D05Rik T C 2: 104,088,674 (GRCm39) T101A possibly damaging Het
Ebf4 T C 2: 130,207,388 (GRCm39) S484P probably benign Het
Gm10300 A G 4: 131,802,023 (GRCm39) probably benign Het
Lyst T C 13: 13,808,645 (GRCm39) I105T possibly damaging Het
Mrgprx2 A G 7: 48,132,306 (GRCm39) probably null Het
Musk T C 4: 58,354,156 (GRCm39) L403P possibly damaging Het
Myh11 T C 16: 14,054,274 (GRCm39) K363R possibly damaging Het
Nadk2 T C 15: 9,091,334 (GRCm39) F202L probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nup210l C T 3: 90,077,355 (GRCm39) T897M possibly damaging Het
Or52h9 T C 7: 104,202,383 (GRCm39) W86R probably damaging Het
Pcdh17 A G 14: 84,684,928 (GRCm39) D465G probably damaging Het
Pcdhb11 T A 18: 37,556,422 (GRCm39) L584Q probably damaging Het
Pcdhb5 T C 18: 37,455,303 (GRCm39) L561P probably damaging Het
Pck2 A G 14: 55,779,867 (GRCm39) S12G probably benign Het
Pcsk1 A G 13: 75,280,353 (GRCm39) D726G probably damaging Het
Pcsk5 G T 19: 17,542,194 (GRCm39) A799E probably damaging Het
Pkp3 A G 7: 140,662,739 (GRCm39) Y117C probably benign Het
Poldip2 T A 11: 78,405,988 (GRCm39) D106E probably damaging Het
Ppm1d C A 11: 85,227,980 (GRCm39) H299N probably damaging Het
Ptprz1 A G 6: 23,000,643 (GRCm39) Y911C probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rtf1 T G 2: 119,550,727 (GRCm39) S329A possibly damaging Het
Slc12a2 T C 18: 58,054,882 (GRCm39) I841T probably benign Het
Slc2a3 T C 6: 122,708,525 (GRCm39) I367V possibly damaging Het
Slc30a8 A G 15: 52,194,993 (GRCm39) T251A probably damaging Het
Spryd3 T A 15: 102,041,966 (GRCm39) N19Y probably damaging Het
Tll2 A T 19: 41,092,290 (GRCm39) Y516N probably damaging Het
Tlr5 G A 1: 182,803,242 (GRCm39) G849R probably benign Het
Wdr64 A G 1: 175,583,192 (GRCm39) E376G probably damaging Het
Zfp318 GAA GAANAA 17: 46,723,462 (GRCm39) probably null Het
Other mutations in Dll4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Dll4 APN 2 119,163,226 (GRCm39) missense probably damaging 1.00
IGL01149:Dll4 APN 2 119,161,590 (GRCm39) missense probably damaging 1.00
IGL02511:Dll4 APN 2 119,156,947 (GRCm39) missense probably damaging 0.99
PIT4519001:Dll4 UTSW 2 119,162,897 (GRCm39) missense probably benign 0.01
R0316:Dll4 UTSW 2 119,161,634 (GRCm39) missense probably damaging 1.00
R0725:Dll4 UTSW 2 119,163,170 (GRCm39) missense probably damaging 1.00
R0840:Dll4 UTSW 2 119,156,966 (GRCm39) missense probably benign 0.01
R1650:Dll4 UTSW 2 119,161,611 (GRCm39) missense probably damaging 1.00
R3813:Dll4 UTSW 2 119,161,510 (GRCm39) missense possibly damaging 0.65
R3974:Dll4 UTSW 2 119,164,573 (GRCm39) missense probably damaging 0.98
R5320:Dll4 UTSW 2 119,156,968 (GRCm39) missense probably damaging 0.97
R6166:Dll4 UTSW 2 119,165,107 (GRCm39) critical splice acceptor site probably null
R6305:Dll4 UTSW 2 119,161,138 (GRCm39) missense probably benign 0.01
R6455:Dll4 UTSW 2 119,164,276 (GRCm39) splice site probably null
R6617:Dll4 UTSW 2 119,158,412 (GRCm39) missense probably benign
R6843:Dll4 UTSW 2 119,156,475 (GRCm39) start gained probably benign
R7204:Dll4 UTSW 2 119,159,054 (GRCm39) missense probably damaging 0.98
R7251:Dll4 UTSW 2 119,162,773 (GRCm39) missense probably damaging 1.00
R9021:Dll4 UTSW 2 119,163,054 (GRCm39) frame shift probably null
R9022:Dll4 UTSW 2 119,163,054 (GRCm39) frame shift probably null
Z1176:Dll4 UTSW 2 119,156,533 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- ACCAGGTAGCATCCAGTCAGTGTG -3'
(R):5'- AACCAAAGAGGAGCCTGTTTCAGTC -3'

Sequencing Primer
(F):5'- GAGAATAGCTACCACTGCCTGTG -3'
(R):5'- TTTCAGTCAGCCTGACCACAATAG -3'
Posted On 2014-01-05