Incidental Mutation 'IGL03281:Dll1'
| ID |
415604 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dll1
|
| Ensembl Gene |
ENSMUSG00000014773 |
| Gene Name |
delta like canonical Notch ligand 1 |
| Synonyms |
Delta1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
15587616-15597134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 15593866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 167
(R167L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014917]
[ENSMUST00000143460]
|
| AlphaFold |
Q61483 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014917
AA Change: R167L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: R167L
| 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 |
probably benign
Transcript: ENSMUST00000143460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152416
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181251
|
| Coding Region Coverage |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,601 (GRCm39) |
R361H |
probably benign |
Het |
| Abcd2 |
G |
T |
15: 91,035,876 (GRCm39) |
T663K |
probably damaging |
Het |
| Btbd8 |
A |
T |
5: 107,651,742 (GRCm39) |
T212S |
probably benign |
Het |
| Bud23 |
C |
T |
5: 135,092,741 (GRCm39) |
R28H |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,320,256 (GRCm39) |
Y852C |
probably damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,750,790 (GRCm39) |
T538A |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,526 (GRCm39) |
V355A |
possibly damaging |
Het |
| Hrnr |
A |
T |
3: 93,230,158 (GRCm39) |
E132V |
probably benign |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,571 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,382,105 (GRCm39) |
Q485L |
probably null |
Het |
| Lrp1b |
T |
A |
2: 40,615,526 (GRCm39) |
M3626L |
probably benign |
Het |
| Magea6 |
G |
T |
X: 153,707,623 (GRCm39) |
C144* |
probably null |
Het |
| Map1a |
G |
T |
2: 121,135,541 (GRCm39) |
R1881L |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,128 (GRCm39) |
Y636F |
probably damaging |
Het |
| Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,272 (GRCm39) |
F59I |
probably benign |
Het |
| Prg4 |
A |
G |
1: 150,325,839 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
G |
1: 119,587,642 (GRCm39) |
Q900H |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,062,428 (GRCm39) |
|
probably null |
Het |
| Rasgrp4 |
C |
T |
7: 28,845,450 (GRCm39) |
A381V |
possibly damaging |
Het |
| Selenbp1 |
A |
T |
3: 94,844,621 (GRCm39) |
K93* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,524,415 (GRCm39) |
K855N |
unknown |
Het |
| Tssk4 |
T |
C |
14: 55,887,885 (GRCm39) |
V27A |
possibly damaging |
Het |
| Ttc39a |
C |
A |
4: 109,290,219 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Utp18 |
C |
T |
11: 93,766,784 (GRCm39) |
V276I |
probably damaging |
Het |
| Vmn2r45 |
C |
A |
7: 8,486,603 (GRCm39) |
L228F |
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 |
|
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 |
|
R5252:Dll1
|
UTSW |
17 |
15,588,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation