Incidental Mutation 'R4306:Dll3'
| ID |
324029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dll3
|
| Ensembl Gene |
ENSMUSG00000003436 |
| Gene Name |
delta like canonical Notch ligand 3 |
| Synonyms |
|
| MMRRC Submission |
041092-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.404)
|
| Stock # |
R4306 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27992980-28001210 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3859 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 28001082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081946]
[ENSMUST00000108315]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081946
|
| SMART Domains |
Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
CPDc
|
146 |
274 |
1.33e-41 |
SMART |
|
low complexity region
|
313 |
330 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000134263
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151990
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (33/34) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,671,229 (GRCm39) |
T116A |
probably damaging |
Het |
| Chst12 |
T |
C |
5: 140,510,401 (GRCm39) |
F343L |
probably damaging |
Het |
| Cpeb2 |
T |
A |
5: 43,392,578 (GRCm39) |
|
probably benign |
Het |
| Cyp27b1 |
A |
G |
10: 126,886,957 (GRCm39) |
D391G |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,260,932 (GRCm39) |
I2030N |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,361,051 (GRCm39) |
|
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Fzd7 |
T |
C |
1: 59,523,566 (GRCm39) |
V483A |
probably damaging |
Het |
| Gpm6a |
T |
C |
8: 55,500,428 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,492,735 (GRCm39) |
H539R |
probably damaging |
Het |
| Irs1 |
C |
T |
1: 82,265,685 (GRCm39) |
A844T |
probably benign |
Het |
| Myo1a |
T |
G |
10: 127,549,950 (GRCm39) |
S477A |
probably benign |
Het |
| Naga |
C |
T |
15: 82,221,095 (GRCm39) |
W67* |
probably null |
Het |
| Or51ah3 |
G |
C |
7: 103,210,380 (GRCm39) |
R232T |
possibly damaging |
Het |
| Or51ah3 |
A |
T |
7: 103,210,379 (GRCm39) |
R232* |
probably null |
Het |
| Osbpl1a |
T |
C |
18: 12,952,652 (GRCm39) |
E87G |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Rb1 |
G |
A |
14: 73,500,135 (GRCm39) |
T504I |
probably damaging |
Het |
| Rnf144b |
A |
G |
13: 47,396,418 (GRCm39) |
N252D |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,460,125 (GRCm39) |
N1385K |
possibly damaging |
Het |
| Spaca7b |
T |
A |
8: 11,728,590 (GRCm39) |
N27I |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,954 (GRCm39) |
I88V |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,853,198 (GRCm39) |
F465L |
probably benign |
Het |
| Usp31 |
G |
A |
7: 121,306,152 (GRCm39) |
P109S |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
| Zfp459 |
T |
C |
13: 67,561,307 (GRCm39) |
K47R |
probably damaging |
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 |
|
R3158:Dll3
|
UTSW |
7 |
27,993,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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'- TAGTAAAGGCTCTGGGGCAC -3'
(R):5'- CCGGTAGCTAAAAGACTGGC -3'
Sequencing Primer
(F):5'- TGCTCCGTATAGACCGGGAC -3'
(R):5'- TAGCTAAAAGACTGGCCTGAAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation