Incidental Mutation 'R3158:Dll3'
ID |
263584 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dll3
|
Ensembl Gene |
ENSMUSG00000003436 |
Gene Name |
delta like canonical Notch ligand 3 |
Synonyms |
|
MMRRC Submission |
040609-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.404)
|
Stock # |
R3158 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
27992980-28001210 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 27993520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 566
(D566E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056589]
[ENSMUST00000108315]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056589
|
SMART Domains |
Protein: ENSMUSP00000050372 Gene: ENSMUSG00000046750
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
98 |
N/A |
INTRINSIC |
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
Pfam:Rdx
|
246 |
324 |
4.2e-13 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108315
AA Change: D566E
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103951 Gene: ENSMUSG00000003436 AA Change: D566E
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: ENSMUST00000138721
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145512
|
Meta Mutation Damage Score |
0.0604 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (35/36) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
E330034G19Rik |
A |
T |
14: 24,346,965 (GRCm39) |
Y84F |
possibly damaging |
Het |
Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Krt6a |
T |
C |
15: 101,599,801 (GRCm39) |
Y437C |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
Or11h4 |
A |
G |
14: 50,974,271 (GRCm39) |
V116A |
probably benign |
Het |
Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
probably benign |
Het |
|
Other mutations in Dll3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0024:Dll3
|
UTSW |
7 |
27,999,586 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCAGGCGATGATAGAGAAG -3'
(R):5'- CTTACCCAGGTGTTCTAGCC -3'
Sequencing Primer
(F):5'- AAGGGGCAGGATCAGGC -3'
(R):5'- AGGTGTTCTAGCCCTAGCC -3'
|
Posted On |
2015-02-05 |