Incidental Mutation 'R0024:Dll3'
ID |
15167 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dll3
|
Ensembl Gene |
ENSMUSG00000003436 |
Gene Name |
delta like canonical Notch ligand 3 |
Synonyms |
|
MMRRC Submission |
038319-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.404)
|
Stock # |
R0024 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
27992980-28001210 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 27999586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108315]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108315
|
SMART Domains |
Protein: ENSMUSP00000103951 Gene: ENSMUSG00000003436
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Blast:EGF
|
60 |
118 |
3e-18 |
BLAST |
low complexity region
|
140 |
154 |
N/A |
INTRINSIC |
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
EGF
|
211 |
247 |
1.53e1 |
SMART |
EGF
|
275 |
308 |
3.08e-6 |
SMART |
EGF
|
313 |
349 |
8.25e-7 |
SMART |
EGF
|
354 |
387 |
2.83e-5 |
SMART |
EGF
|
392 |
425 |
1.04e-3 |
SMART |
EGF
|
430 |
463 |
7.07e-6 |
SMART |
transmembrane domain
|
489 |
511 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145512
|
Coding Region Coverage |
- 1x: 79.2%
- 3x: 69.7%
- 10x: 44.0%
- 20x: 23.5%
|
Validation Efficiency |
95% (75/79) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, a shortened body and tail, delayed and abnormal somite formation, a kinked neural tube, disorganized PNS elements, and severe axial skeletal dysplasia, including disorganized vertebrae and ribs defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
Akip1 |
T |
C |
7: 109,303,345 (GRCm39) |
S63P |
probably benign |
Het |
Ankrd34c |
G |
A |
9: 89,611,580 (GRCm39) |
P254S |
possibly damaging |
Het |
Aqp8 |
T |
C |
7: 123,066,663 (GRCm39) |
I256T |
probably benign |
Het |
Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
Astn1 |
G |
A |
1: 158,511,785 (GRCm39) |
S1209N |
probably damaging |
Het |
Atf7ip |
T |
C |
6: 136,576,818 (GRCm39) |
|
probably benign |
Het |
Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
Cadm4 |
T |
C |
7: 24,202,169 (GRCm39) |
L336P |
probably benign |
Het |
Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
Dennd2b |
T |
C |
7: 109,123,866 (GRCm39) |
H1131R |
probably damaging |
Het |
Dscam |
G |
A |
16: 96,394,585 (GRCm39) |
R1906* |
probably null |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Eif2ak3 |
A |
G |
6: 70,869,340 (GRCm39) |
T676A |
probably benign |
Het |
Entpd5 |
T |
C |
12: 84,420,507 (GRCm39) |
M428T |
probably benign |
Het |
Fry |
T |
G |
5: 150,304,268 (GRCm39) |
S553A |
probably benign |
Het |
Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
Gm14340 |
T |
A |
2: 180,466,043 (GRCm39) |
|
noncoding transcript |
Het |
Gm9457 |
A |
C |
8: 4,863,131 (GRCm39) |
|
noncoding transcript |
Het |
Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
Iqgap1 |
T |
C |
7: 80,401,687 (GRCm39) |
T473A |
probably benign |
Het |
Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
Lysmd4 |
A |
G |
7: 66,875,828 (GRCm39) |
T164A |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,955,109 (GRCm39) |
Y701N |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,133,399 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,326,303 (GRCm39) |
I79N |
possibly damaging |
Het |
Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rsc1a1 |
T |
C |
4: 141,412,583 (GRCm39) |
K110E |
probably benign |
Het |
Sin3a |
T |
A |
9: 57,025,537 (GRCm39) |
|
probably benign |
Het |
Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
Slc6a3 |
A |
T |
13: 73,688,956 (GRCm39) |
|
probably benign |
Het |
Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
Tpm3 |
C |
A |
3: 89,994,756 (GRCm39) |
|
probably null |
Het |
Ttc27 |
T |
C |
17: 75,077,259 (GRCm39) |
F385L |
possibly damaging |
Het |
Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
probably benign |
Het |
|
Other mutations in Dll3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0138:Dll3
|
UTSW |
7 |
28,000,746 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0322:Dll3
|
UTSW |
7 |
27,995,793 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0479:Dll3
|
UTSW |
7 |
28,000,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Dll3
|
UTSW |
7 |
27,993,922 (GRCm39) |
missense |
probably damaging |
0.98 |
R1742:Dll3
|
UTSW |
7 |
27,993,848 (GRCm39) |
missense |
probably benign |
0.37 |
R1854:Dll3
|
UTSW |
7 |
27,995,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Dll3
|
UTSW |
7 |
27,998,348 (GRCm39) |
missense |
probably benign |
|
R3037:Dll3
|
UTSW |
7 |
27,998,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R3158:Dll3
|
UTSW |
7 |
27,993,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4306:Dll3
|
UTSW |
7 |
28,001,082 (GRCm39) |
splice site |
probably null |
|
R4424:Dll3
|
UTSW |
7 |
27,995,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Dll3
|
UTSW |
7 |
27,995,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R4875:Dll3
|
UTSW |
7 |
27,995,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R5604:Dll3
|
UTSW |
7 |
27,994,057 (GRCm39) |
missense |
probably benign |
|
R5770:Dll3
|
UTSW |
7 |
27,998,434 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5988:Dll3
|
UTSW |
7 |
27,993,537 (GRCm39) |
missense |
probably damaging |
0.98 |
R7204:Dll3
|
UTSW |
7 |
27,998,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7347:Dll3
|
UTSW |
7 |
27,998,536 (GRCm39) |
missense |
probably damaging |
0.99 |
R7373:Dll3
|
UTSW |
7 |
27,994,057 (GRCm39) |
missense |
probably benign |
|
R7694:Dll3
|
UTSW |
7 |
28,001,170 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
R7829:Dll3
|
UTSW |
7 |
27,994,075 (GRCm39) |
missense |
probably damaging |
0.99 |
R7905:Dll3
|
UTSW |
7 |
28,000,960 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8681:Dll3
|
UTSW |
7 |
27,994,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R8988:Dll3
|
UTSW |
7 |
27,995,793 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9519:Dll3
|
UTSW |
7 |
27,995,764 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Dll3
|
UTSW |
7 |
28,000,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-12-12 |