Incidental Mutation 'R6617:Dll4'
| ID |
524122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dll4
|
| Ensembl Gene |
ENSMUSG00000027314 |
| Gene Name |
delta like canonical Notch ligand 4 |
| Synonyms |
Delta4 |
| MMRRC Submission |
044740-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6617 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119156265-119166147 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119158412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 134
(T134A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102517]
|
| AlphaFold |
Q9JI71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102517
AA Change: T134A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099575
Gene: ENSMUSG00000027314
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MNNL
|
27 |
92 |
7.3e-21 |
PFAM |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
DSL
|
156 |
218 |
1.98e-23 |
SMART |
|
EGF
|
222 |
252 |
5.62e0 |
SMART |
|
EGF
|
253 |
283 |
5.79e-2 |
SMART |
|
EGF_CA
|
285 |
323 |
1.38e-8 |
SMART |
|
EGF_CA
|
329 |
361 |
5.36e-6 |
SMART |
|
EGF
|
366 |
401 |
4.35e-6 |
SMART |
|
EGF
|
406 |
439 |
1.44e-6 |
SMART |
|
EGF_CA
|
441 |
477 |
2.33e-6 |
SMART |
|
EGF
|
484 |
519 |
9.33e-6 |
SMART |
|
transmembrane domain
|
530 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156538
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality, absent vascular remodeling, small hearts, and embryonic growth retardation. Heterozygous null mice display background dependent partial or complete embryonic lethality, impaired vascular remodeling, and embryonic growth retardation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,454,152 (GRCm39) |
I323K |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 110,437,332 (GRCm39) |
V81D |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,380,111 (GRCm39) |
D2147G |
possibly damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,489,592 (GRCm39) |
L308P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,074,668 (GRCm39) |
L1076I |
probably benign |
Het |
| Chp2 |
T |
C |
7: 121,819,917 (GRCm39) |
V59A |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,215,546 (GRCm39) |
C555* |
probably null |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Crispld1 |
G |
A |
1: 17,798,886 (GRCm39) |
M2I |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,254,156 (GRCm39) |
N540S |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,186,931 (GRCm39) |
T1305I |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,280,731 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
A |
T |
14: 72,669,215 (GRCm39) |
L2649H |
probably damaging |
Het |
| Gprc5c |
A |
G |
11: 114,754,931 (GRCm39) |
I203V |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,619,547 (GRCm39) |
D1189G |
probably benign |
Het |
| Hnrnpl |
C |
A |
7: 28,518,009 (GRCm39) |
|
probably benign |
Het |
| Homer1 |
T |
A |
13: 93,478,370 (GRCm39) |
Y38N |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,766,962 (GRCm39) |
T707A |
probably benign |
Het |
| Lmbrd1 |
G |
A |
1: 24,724,509 (GRCm39) |
R31Q |
probably damaging |
Het |
| Mbtps1 |
G |
A |
8: 120,264,876 (GRCm39) |
P341S |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,580,512 (GRCm39) |
|
probably null |
Het |
| Myh13 |
A |
T |
11: 67,252,226 (GRCm39) |
T1445S |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,827,474 (GRCm39) |
A37V |
probably benign |
Het |
| Neb |
A |
G |
2: 52,097,759 (GRCm39) |
F4909L |
probably damaging |
Het |
| Nrcam |
T |
A |
12: 44,587,746 (GRCm39) |
W141R |
probably damaging |
Het |
| Or6k4 |
T |
G |
1: 173,964,814 (GRCm39) |
F168C |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,781 (GRCm39) |
E247G |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,873,715 (GRCm39) |
I333M |
possibly damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,235,310 (GRCm39) |
F69L |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,467,980 (GRCm39) |
T349K |
possibly damaging |
Het |
| Stap2 |
A |
G |
17: 56,306,746 (GRCm39) |
S276P |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,059,517 (GRCm39) |
S275P |
probably damaging |
Het |
| Topors |
G |
A |
4: 40,261,896 (GRCm39) |
Q463* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,577,001 (GRCm39) |
D1101G |
possibly damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,984 (GRCm39) |
A54T |
probably benign |
Het |
| Vcam1 |
A |
G |
3: 115,919,711 (GRCm39) |
V185A |
possibly damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,494 (GRCm39) |
*855R |
probably null |
Het |
|
| Other mutations in Dll4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Dll4
|
APN |
2 |
119,163,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01149:Dll4
|
APN |
2 |
119,161,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02511:Dll4
|
APN |
2 |
119,156,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4519001:Dll4
|
UTSW |
2 |
119,162,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0316:Dll4
|
UTSW |
2 |
119,161,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0725:Dll4
|
UTSW |
2 |
119,163,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0840:Dll4
|
UTSW |
2 |
119,156,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1014:Dll4
|
UTSW |
2 |
119,161,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Dll4
|
UTSW |
2 |
119,161,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3813:Dll4
|
UTSW |
2 |
119,161,510 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3974:Dll4
|
UTSW |
2 |
119,164,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5320:Dll4
|
UTSW |
2 |
119,156,968 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6166:Dll4
|
UTSW |
2 |
119,165,107 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6305:Dll4
|
UTSW |
2 |
119,161,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6455:Dll4
|
UTSW |
2 |
119,164,276 (GRCm39) |
splice site |
probably null |
|
|
R6843:Dll4
|
UTSW |
2 |
119,156,475 (GRCm39) |
start gained |
probably benign |
|
|
R7204:Dll4
|
UTSW |
2 |
119,159,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7251:Dll4
|
UTSW |
2 |
119,162,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9021:Dll4
|
UTSW |
2 |
119,163,054 (GRCm39) |
frame shift |
probably null |
|
|
R9022:Dll4
|
UTSW |
2 |
119,163,054 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Dll4
|
UTSW |
2 |
119,156,533 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACACCCAGGGAGACTAAGTAG -3'
(R):5'- GCACTCATAATGTCCGAAGTG -3'
Sequencing Primer
(F):5'- TAAGTAGCAAGATTCTGGGACCCTC -3'
(R):5'- CATAATGTCCGAAGTGGTCATCGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation