Incidental Mutation 'R5252:Dll1'
| ID |
399146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dll1
|
| Ensembl Gene |
ENSMUSG00000014773 |
| Gene Name |
delta like canonical Notch ligand 1 |
| Synonyms |
Delta1 |
| MMRRC Submission |
042823-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
15587616-15597134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15588951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 575
(K575E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014917]
|
| AlphaFold |
Q61483 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014917
AA Change: K575E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: K575E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
Pfam:MNNL
|
21 |
93 |
2.2e-28 |
PFAM |
|
DSL
|
158 |
220 |
3.91e-36 |
SMART |
|
EGF
|
224 |
254 |
9.82e0 |
SMART |
|
EGF
|
255 |
285 |
1.43e-1 |
SMART |
|
EGF_CA
|
287 |
325 |
5.48e-12 |
SMART |
|
EGF_CA
|
327 |
363 |
2.94e-12 |
SMART |
|
EGF
|
368 |
402 |
3.54e-6 |
SMART |
|
EGF_CA
|
404 |
440 |
8.5e-9 |
SMART |
|
EGF_CA
|
442 |
478 |
2.08e-12 |
SMART |
|
EGF
|
483 |
516 |
4.59e-5 |
SMART |
|
transmembrane domain
|
545 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
589 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152416
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos do not survive and have mesodermal segments with no cranio-caudal polarity and no epithelial somites develop; caudal sclerotome halves do not condense, the pattern. Mice heterozygous for a knock-out or ENU allele exhibit abnormal metabolic and immunological phenotypes. [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 |
|---|
| Alox12b |
G |
T |
11: 69,056,762 (GRCm39) |
R386L |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,935,261 (GRCm39) |
Y346N |
probably damaging |
Het |
| Cabp4 |
T |
C |
19: 4,186,067 (GRCm39) |
|
probably benign |
Het |
| Canx |
A |
T |
11: 50,199,621 (GRCm39) |
I148N |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,962,593 (GRCm39) |
V117A |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,134,335 (GRCm39) |
N1078Y |
unknown |
Het |
| Cdk7 |
T |
A |
13: 100,866,968 (GRCm39) |
K42* |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,817,489 (GRCm39) |
D274G |
unknown |
Het |
| Cux1 |
T |
C |
5: 136,337,151 (GRCm39) |
E696G |
probably damaging |
Het |
| Cxxc1 |
C |
T |
18: 74,353,022 (GRCm39) |
A444V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,089,676 (GRCm39) |
F1130S |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,420,295 (GRCm39) |
F140L |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 107,943,618 (GRCm39) |
T592A |
probably benign |
Het |
| Fas |
T |
C |
19: 34,294,043 (GRCm39) |
S133P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,427 (GRCm39) |
S53P |
probably benign |
Het |
| H2-Q4 |
T |
C |
17: 35,599,411 (GRCm39) |
F165L |
probably benign |
Het |
| Ighv9-2 |
A |
G |
12: 114,072,838 (GRCm39) |
V45A |
probably benign |
Het |
| Inpp1 |
T |
G |
1: 52,833,706 (GRCm39) |
D130A |
probably benign |
Het |
| Lin54 |
C |
T |
5: 100,628,063 (GRCm39) |
V47I |
probably benign |
Het |
| Nav3 |
TGAAGAAGAAGAAGA |
TGAAGAAGAAGA |
10: 109,550,152 (GRCm39) |
|
probably benign |
Het |
| Nexn |
T |
C |
3: 151,943,590 (GRCm39) |
T438A |
probably benign |
Het |
| Or4c112 |
A |
T |
2: 88,853,598 (GRCm39) |
F250I |
probably damaging |
Het |
| Or8g4 |
T |
G |
9: 39,661,784 (GRCm39) |
I34S |
probably damaging |
Het |
| Pilrb1 |
T |
A |
5: 137,853,315 (GRCm39) |
M163L |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,420,635 (GRCm39) |
|
probably null |
Het |
| Ppard |
G |
A |
17: 28,517,822 (GRCm39) |
V297I |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,365,369 (GRCm39) |
V214A |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,191 (GRCm39) |
F95S |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,742,209 (GRCm39) |
Y302H |
probably damaging |
Het |
| Slco4a1 |
G |
A |
2: 180,106,252 (GRCm39) |
A145T |
possibly damaging |
Het |
| Spata31g1 |
T |
A |
4: 42,971,706 (GRCm39) |
F346L |
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,382,829 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tent5c |
A |
G |
3: 100,380,024 (GRCm39) |
L244P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,074,464 (GRCm39) |
S429P |
probably benign |
Het |
| Unc13a |
T |
A |
8: 72,105,208 (GRCm39) |
T723S |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,553,914 (GRCm39) |
I3468F |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,586,532 (GRCm39) |
D2547E |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,315,756 (GRCm39) |
L1240P |
probably damaging |
Het |
|
| Other mutations in Dll1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Dll1
|
APN |
17 |
15,588,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03006:Dll1
|
APN |
17 |
15,593,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03218:Dll1
|
APN |
17 |
15,593,830 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03281:Dll1
|
APN |
17 |
15,593,866 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0054:Dll1
|
UTSW |
17 |
15,589,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Dll1
|
UTSW |
17 |
15,593,817 (GRCm39) |
nonsense |
probably null |
|
|
R2290:Dll1
|
UTSW |
17 |
15,595,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3776:Dll1
|
UTSW |
17 |
15,588,786 (GRCm39) |
missense |
probably benign |
|
|
R4620:Dll1
|
UTSW |
17 |
15,590,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4837:Dll1
|
UTSW |
17 |
15,589,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4874:Dll1
|
UTSW |
17 |
15,590,501 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6726:Dll1
|
UTSW |
17 |
15,590,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Dll1
|
UTSW |
17 |
15,595,131 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7453:Dll1
|
UTSW |
17 |
15,595,151 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7542:Dll1
|
UTSW |
17 |
15,590,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7915:Dll1
|
UTSW |
17 |
15,588,690 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9035:Dll1
|
UTSW |
17 |
15,588,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9417:Dll1
|
UTSW |
17 |
15,593,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Dll1
|
UTSW |
17 |
15,591,198 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGACCTTAAAGCTGCTCTTC -3'
(R):5'- AGCGCTACATGTGTGAGTG -3'
Sequencing Primer
(F):5'- AAAGCTGCTCTTCTCGGC -3'
(R):5'- TACATGTGTGAGTGCGCCCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation