Incidental Mutation 'R6726:Dll1'
ID |
529883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dll1
|
Ensembl Gene |
ENSMUSG00000014773 |
Gene Name |
delta like canonical Notch ligand 1 |
Synonyms |
Delta1 |
MMRRC Submission |
044844-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6726 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
15587616-15597134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 15590513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 401
(C401F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014917]
[ENSMUST00000143460]
|
AlphaFold |
Q61483 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014917
AA Change: C401F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000014917 Gene: ENSMUSG00000014773 AA Change: C401F
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 |
probably benign
Transcript: ENSMUST00000143460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152416
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181251
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (41/41) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,735,540 (GRCm39) |
|
probably null |
Het |
Arsk |
T |
C |
13: 76,222,907 (GRCm39) |
Y230C |
probably damaging |
Het |
Atf7ip |
G |
A |
6: 136,559,389 (GRCm39) |
V737M |
probably damaging |
Het |
Atp6v1e1 |
A |
T |
6: 120,781,011 (GRCm39) |
|
probably null |
Het |
Bbs9 |
T |
C |
9: 22,557,260 (GRCm39) |
V3A |
probably benign |
Het |
Brap |
T |
C |
5: 121,813,365 (GRCm39) |
S243P |
probably damaging |
Het |
Camkmt |
T |
A |
17: 85,702,037 (GRCm39) |
I167N |
probably damaging |
Het |
Ckap2l |
C |
A |
2: 129,111,114 (GRCm39) |
E694D |
probably damaging |
Het |
Crmp1 |
G |
A |
5: 37,441,408 (GRCm39) |
V497I |
probably benign |
Het |
Dbx2 |
A |
G |
15: 95,522,741 (GRCm39) |
V322A |
possibly damaging |
Het |
Dock10 |
T |
C |
1: 80,490,147 (GRCm39) |
T1991A |
probably damaging |
Het |
Dock3 |
C |
T |
9: 107,036,651 (GRCm39) |
W42* |
probably null |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
Hdac1-ps |
A |
G |
17: 78,800,287 (GRCm39) |
E426G |
probably damaging |
Het |
Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
Irs2 |
T |
C |
8: 11,054,961 (GRCm39) |
N1157S |
possibly damaging |
Het |
Kndc1 |
T |
C |
7: 139,502,667 (GRCm39) |
|
probably null |
Het |
Map3k19 |
T |
C |
1: 127,748,185 (GRCm39) |
N1241S |
probably benign |
Het |
Or9g4b |
T |
C |
2: 85,615,906 (GRCm39) |
F17S |
possibly damaging |
Het |
Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
Pcdh17 |
T |
A |
14: 84,683,657 (GRCm39) |
D41E |
probably damaging |
Het |
Plg |
T |
G |
17: 12,597,595 (GRCm39) |
L14R |
probably damaging |
Het |
Prkab1 |
A |
G |
5: 116,158,092 (GRCm39) |
V168A |
probably benign |
Het |
Prr35 |
G |
C |
17: 26,166,689 (GRCm39) |
P283A |
probably benign |
Het |
Ptdss1 |
C |
T |
13: 67,101,595 (GRCm39) |
R95* |
probably null |
Het |
Rab3gap2 |
T |
G |
1: 184,980,062 (GRCm39) |
S327A |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Homo |
Sdr42e2 |
T |
C |
7: 120,425,332 (GRCm39) |
S308P |
probably damaging |
Het |
Senp8 |
C |
A |
9: 59,644,473 (GRCm39) |
V228L |
probably benign |
Het |
Serpina10 |
A |
T |
12: 103,594,628 (GRCm39) |
I197K |
probably benign |
Het |
Serpinb6d |
A |
G |
13: 33,854,718 (GRCm39) |
N231S |
probably benign |
Het |
Sez6l2 |
T |
C |
7: 126,567,177 (GRCm39) |
V869A |
probably damaging |
Het |
Sgo2b |
T |
A |
8: 64,380,769 (GRCm39) |
K688* |
probably null |
Het |
Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
Ufsp2 |
T |
C |
8: 46,438,504 (GRCm39) |
M194T |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,485,881 (GRCm39) |
I2997T |
possibly damaging |
Het |
Vmn2r107 |
G |
A |
17: 20,595,637 (GRCm39) |
G730D |
probably damaging |
Het |
Wdr72 |
T |
C |
9: 74,059,822 (GRCm39) |
Y411H |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,343,212 (GRCm39) |
S1818P |
possibly 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 |
R5252:Dll1
|
UTSW |
17 |
15,588,951 (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'- ACCAGGTCATTCCTTGCATTATG -3'
(R):5'- TTGAGGACAGCTTCTCTTGC -3'
Sequencing Primer
(F):5'- CCTTGCATTATGAGTATGACACC -3'
(R):5'- AGGACAGCTTCTCTTGCACCTG -3'
|
Posted On |
2018-08-01 |