Mutagenetix > Incidental Mutation

Incidental Mutation 'R6843:Dll4'

534604

Institutional Source

Beutler Lab

Gene Symbol

Dll4

Ensembl Gene

ENSMUSG00000027314

Gene Name

delta like canonical Notch ligand 4

Synonyms

Delta4

MMRRC Submission

044949-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6843 (G1)

Quality Score

117.008

Status

Not validated

Chromosome

Chromosomal Location

119156265-119166147 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 119156475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102517]

AlphaFold

Q9JI71

Predicted Effect

probably benign
Transcript: ENSMUST00000102517

SMART Domains

Protein: ENSMUSP00000099575
Gene: ENSMUSG00000027314

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,360 (GRCm39)	Q78L	probably benign	Het
Akr1c21	A	G	13: 4,625,213 (GRCm39)	H48R	probably damaging	Het
Anks1b	T	A	10: 90,784,460 (GRCm39)	S1143T	probably damaging	Het
Apip	T	G	2: 102,922,834 (GRCm39)	F217L	probably benign	Het
Ash1l	T	A	3: 88,892,695 (GRCm39)	Y1525N	probably damaging	Het
Bcl2l13	G	A	6: 120,825,578 (GRCm39)		probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Clk4	T	G	11: 51,167,076 (GRCm39)		probably null	Het
Cnr2	C	T	4: 135,644,900 (GRCm39)	P326L	probably benign	Het
Cryaa	A	G	17: 31,897,147 (GRCm39)	D58G	possibly damaging	Het
Crybg3	G	A	16: 59,380,159 (GRCm39)	T365M	probably benign	Het
Csmd2	A	G	4: 128,357,587 (GRCm39)	N1683D	probably benign	Het
Dbx2	T	G	15: 95,552,340 (GRCm39)	I102L	possibly damaging	Het
Epb42	T	A	2: 120,858,166 (GRCm39)	Y264F	possibly damaging	Het
Exoc3l	T	A	8: 106,016,729 (GRCm39)	H695L	probably benign	Het
Fhip1a	G	A	3: 85,580,352 (GRCm39)	P618S	probably damaging	Het
Ghsr	A	C	3: 27,426,676 (GRCm39)	D244A	probably benign	Het
Gm9195	A	G	14: 72,678,651 (GRCm39)	Y2268H	possibly damaging	Het
Hdac1	A	G	4: 129,436,383 (GRCm39)	Y14H	probably damaging	Het
Hdac3	A	T	18: 38,075,007 (GRCm39)	Y282N	probably benign	Het
Heg1	T	A	16: 33,539,896 (GRCm39)	N285K	probably benign	Het
Igkv4-90	A	G	6: 68,784,670 (GRCm39)	F8S	possibly damaging	Het
Map2k1	A	T	9: 64,094,973 (GRCm39)	D336E	probably damaging	Het
Map4k2	A	T	19: 6,403,477 (GRCm39)	I796F	probably damaging	Het
Mapk13	T	A	17: 28,994,427 (GRCm39)		probably null	Het
Mprip	A	G	11: 59,650,554 (GRCm39)	I1419M	possibly damaging	Het
Nrap	T	C	19: 56,368,651 (GRCm39)	E255G	probably damaging	Het
Oprl1	A	G	2: 181,357,547 (GRCm39)	E11G	probably damaging	Het
Or1i2	T	C	10: 78,447,891 (GRCm39)	N195D	probably damaging	Het
Or4f14	T	C	2: 111,743,260 (GRCm39)	N5S	probably damaging	Het
Or52b3	A	G	7: 102,203,928 (GRCm39)	I146V	probably benign	Het
Or5b99	G	T	19: 12,976,362 (GRCm39)	C4F	probably benign	Het
Or6c209	A	G	10: 129,483,048 (GRCm39)	D17G	possibly damaging	Het
Palmd	T	A	3: 116,717,864 (GRCm39)	D211V	probably damaging	Het
Pcdhga11	A	G	18: 37,889,378 (GRCm39)	N129D	probably damaging	Het
Plekha6	T	A	1: 133,202,616 (GRCm39)	M359K	probably damaging	Het
Plekha7	G	T	7: 115,742,555 (GRCm39)	H756Q	probably benign	Het
Ppfibp2	C	T	7: 107,326,938 (GRCm39)	P441S	probably benign	Het
Ptprk	T	C	10: 28,467,978 (GRCm39)	I1373T	possibly damaging	Het
Serpinb9g	G	T	13: 33,676,900 (GRCm39)	L227F	probably damaging	Het
Snapc4	C	A	2: 26,263,611 (GRCm39)	A11S	probably benign	Het
Sqor	T	C	2: 122,626,900 (GRCm39)	V7A	probably benign	Het
Sqor	G	T	2: 122,651,215 (GRCm39)	G437V	probably damaging	Het
Srrm3	T	C	5: 135,881,135 (GRCm39)	V145A	probably benign	Het
Stx1b	G	A	7: 127,414,151 (GRCm39)	Q72*	probably null	Het
Syt7	A	G	19: 10,399,135 (GRCm39)	D77G	probably damaging	Het
Tvp23a	G	A	16: 10,264,884 (GRCm39)	A9V	probably benign	Het
Vmn1r66	T	A	7: 10,008,692 (GRCm39)	I114F	probably damaging	Het
Vmn2r80	C	A	10: 79,005,502 (GRCm39)	Q380K	probably benign	Het
Xdh	C	T	17: 74,230,125 (GRCm39)	E269K	probably damaging	Het
Zfp932	T	C	5: 110,156,581 (GRCm39)	M92T	probably benign	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
R6617:Dll4	UTSW	2	119,158,412 (GRCm39)	missense	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'- TGGAGCAAGCAGGTTTCAG -3'
(R):5'- ATTACCTGCGGCCACAGTAC -3'

Sequencing Primer
(F):5'- CAAGCAGGTTTCAGTAGCGGC -3'
(R):5'- AGTACCGCCAGCAGCAGTAG -3'

Posted On

2018-09-12