Incidental Mutation 'R7905:Dll3'
| ID |
610220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dll3
|
| Ensembl Gene |
ENSMUSG00000003436 |
| Gene Name |
delta like canonical Notch ligand 3 |
| Synonyms |
|
| MMRRC Submission |
045957-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.404)
|
| Stock # |
R7905 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27992980-28001210 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 28000960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 32
(I32L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081946]
[ENSMUST00000108315]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 |
possibly damaging
Transcript: ENSMUST00000108315
AA Change: I32L
PolyPhen 2
Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103951
Gene: ENSMUSG00000003436
AA Change: I32L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
T |
C |
17: 33,652,801 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adcy10 |
T |
A |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
| Aox1 |
G |
A |
1: 58,143,557 (GRCm39) |
S1225N |
possibly damaging |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,988 (GRCm39) |
S96R |
probably benign |
Het |
| Bpifa5 |
T |
C |
2: 154,007,508 (GRCm39) |
I150T |
probably damaging |
Het |
| Ccdc28a |
A |
T |
10: 18,094,076 (GRCm39) |
V181D |
probably benign |
Het |
| Cd40 |
T |
C |
2: 164,904,245 (GRCm39) |
Y31H |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,390,352 (GRCm39) |
T2032A |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 18,907,100 (GRCm39) |
K158R |
possibly damaging |
Het |
| Degs1 |
A |
C |
1: 182,106,601 (GRCm39) |
N255K |
possibly damaging |
Het |
| Dsg4 |
A |
T |
18: 20,587,726 (GRCm39) |
I278F |
probably damaging |
Het |
| Ets2 |
T |
A |
16: 95,507,304 (GRCm39) |
I6N |
probably damaging |
Het |
| Gbp4 |
A |
G |
5: 105,268,953 (GRCm39) |
F400S |
probably damaging |
Het |
| Golgb1 |
C |
T |
16: 36,734,047 (GRCm39) |
A1139V |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,046,419 (GRCm39) |
L489H |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,831 (GRCm39) |
D99G |
probably benign |
Het |
| Ldhc |
A |
G |
7: 46,524,955 (GRCm39) |
|
probably null |
Het |
| Mief1 |
C |
G |
15: 80,133,599 (GRCm39) |
P219A |
probably damaging |
Het |
| Myh11 |
A |
T |
16: 14,025,545 (GRCm39) |
Y1408* |
probably null |
Het |
| Myo1b |
A |
G |
1: 51,803,043 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
A |
T |
9: 72,584,661 (GRCm39) |
K121* |
probably null |
Het |
| Nek9 |
A |
C |
12: 85,352,370 (GRCm39) |
M831R |
probably damaging |
Het |
| Nf1 |
G |
A |
11: 79,437,938 (GRCm39) |
A83T |
possibly damaging |
Het |
| Or6c203 |
A |
T |
10: 129,010,056 (GRCm39) |
I278N |
probably damaging |
Het |
| Osbpl10 |
T |
C |
9: 114,891,078 (GRCm39) |
|
probably null |
Het |
| Pcdhb6 |
T |
C |
18: 37,467,607 (GRCm39) |
L176P |
probably benign |
Het |
| Plxnb1 |
G |
A |
9: 108,938,300 (GRCm39) |
V1285M |
probably damaging |
Het |
| Psg26 |
T |
A |
7: 18,209,242 (GRCm39) |
M389L |
probably benign |
Het |
| Slc49a4 |
G |
A |
16: 35,589,320 (GRCm39) |
P98S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,098,495 (GRCm39) |
E543G |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,131,936 (GRCm39) |
I358T |
probably benign |
Het |
| Spink7 |
G |
T |
18: 62,725,487 (GRCm39) |
C85* |
probably null |
Het |
| Stard9 |
T |
C |
2: 120,526,562 (GRCm39) |
W940R |
not run |
Het |
| Susd2 |
A |
T |
10: 75,475,491 (GRCm39) |
L471* |
probably null |
Het |
| Taf2 |
A |
T |
15: 54,910,828 (GRCm39) |
D615E |
possibly damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,192,659 (GRCm39) |
S14P |
|
Het |
| Tha1 |
A |
C |
11: 117,761,893 (GRCm39) |
V116G |
possibly damaging |
Het |
| Trim46 |
T |
C |
3: 89,151,633 (GRCm39) |
H50R |
probably damaging |
Het |
| Trit1 |
A |
G |
4: 122,910,508 (GRCm39) |
K36E |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,415,335 (GRCm39) |
M268K |
probably benign |
Het |
| Ufc1 |
T |
A |
1: 171,117,508 (GRCm39) |
K68N |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 74,992,820 (GRCm39) |
T225A |
probably benign |
Het |
| Zfp768 |
T |
C |
7: 126,943,831 (GRCm39) |
E102G |
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 |
|
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 |
|
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'- AGACGCTGATCCTGGCTTTTC -3'
Sequencing Primer
(F):5'- ACACGTACGAGGCCATCAGG -3'
(R):5'- CTTCTTCCTCAGGTCAGATACAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation