Mutagenetix > Incidental Mutation

Incidental Mutation 'R3813:Dll4'

274133

Institutional Source

Beutler Lab

Gene Symbol

Dll4

Ensembl Gene

ENSMUSG00000027314

Gene Name

delta like canonical Notch ligand 4

Synonyms

Delta4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119156265-119166147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119161510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 364 (T364N)

Ref Sequence

ENSEMBL: ENSMUSP00000099575 (fasta)

Gene Model

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

AlphaFold

Q9JI71

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102517
AA Change: T364N

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099575
Gene: ENSMUSG00000027314
AA Change: T364N

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: ENSMUST00000127102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156538

Meta Mutation Damage Score

0.0633

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,825,785 (GRCm39)	D1018G	possibly damaging	Het
Adgrg1	T	A	8: 95,738,193 (GRCm39)	L562Q	probably benign	Het
Ankrd11	T	C	8: 123,618,117 (GRCm39)	T1891A	probably benign	Het
Arid2	A	G	15: 96,267,831 (GRCm39)	N648S	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cacna1s	A	T	1: 136,013,085 (GRCm39)	I312F	probably damaging	Het
Cenpj	A	G	14: 56,790,679 (GRCm39)	S457P	probably benign	Het
Cep120	G	A	18: 53,873,284 (GRCm39)		probably benign	Het
Cfap70	T	A	14: 20,471,190 (GRCm39)	I493L	possibly damaging	Het
Cfap97d1	A	T	11: 101,882,314 (GRCm39)	R106S	probably benign	Het
Csmd3	T	C	15: 48,655,209 (GRCm39)	D31G	possibly damaging	Het
Cstf3	T	C	2: 104,439,466 (GRCm39)	Y54H	probably damaging	Het
Cubn	T	A	2: 13,299,136 (GRCm39)	Y3179F	probably damaging	Het
Cyp2s1	C	T	7: 25,505,291 (GRCm39)		probably null	Het
Doc2g	C	T	19: 4,054,466 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,793,246 (GRCm39)	E657G	probably damaging	Het
Fhdc1	A	G	3: 84,371,577 (GRCm39)		probably null	Het
Fndc1	T	C	17: 7,992,154 (GRCm39)	H514R	unknown	Het
Gpat3	A	G	5: 101,039,505 (GRCm39)		probably benign	Het
H2-Q4	A	G	17: 35,602,071 (GRCm39)	H311R	possibly damaging	Het
Hipk4	T	C	7: 27,223,372 (GRCm39)	L144S	probably damaging	Het
Hspa4	G	A	11: 53,161,806 (GRCm39)	P449S	probably benign	Het
Kif7	A	G	7: 79,363,638 (GRCm39)	V90A	probably damaging	Het
Klhl38	T	C	15: 58,185,953 (GRCm39)	I259V	probably benign	Het
Krt9	T	A	11: 100,080,503 (GRCm39)	E414D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrriq1	T	C	10: 103,051,972 (GRCm39)	E260G	probably damaging	Het
Macf1	A	G	4: 123,268,560 (GRCm39)	S4689P	probably damaging	Het
Manba	G	A	3: 135,269,023 (GRCm39)	E643K	possibly damaging	Het
Mc3r	T	A	2: 172,090,799 (GRCm39)	L7Q	probably benign	Het
Mdga1	G	A	17: 30,057,453 (GRCm39)	P788S	probably damaging	Het
Or5d35	T	C	2: 87,855,105 (GRCm39)	F13S	probably damaging	Het
Or6c70	T	A	10: 129,709,855 (GRCm39)	Y257F	probably damaging	Het
Pcdh12	G	A	18: 38,416,667 (GRCm39)	R153*	probably null	Het
Plk3	T	C	4: 116,990,647 (GRCm39)	Y89C	probably damaging	Het
Prss41	G	A	17: 24,056,596 (GRCm39)	R160*	probably null	Het
Rae1	T	A	2: 172,848,666 (GRCm39)		probably benign	Het
Rbm17	T	A	2: 11,600,246 (GRCm39)		probably benign	Het
Recql4	A	T	15: 76,588,694 (GRCm39)	M1039K	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slit3	A	G	11: 35,566,806 (GRCm39)	Y1026C	probably damaging	Het
Tbl2	T	A	5: 135,185,375 (GRCm39)		probably null	Het
Tex2	G	A	11: 106,402,770 (GRCm39)	T1034I	unknown	Het
Tmem241	A	T	18: 12,200,167 (GRCm39)		probably benign	Het
Tmtc1	T	C	6: 148,256,389 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,930,242 (GRCm39)	I38N	probably damaging	Het
Trmt1	T	A	8: 85,421,846 (GRCm39)		probably benign	Het
Vps37d	G	A	5: 135,103,304 (GRCm39)	Q113*	probably null	Het
Zup1	T	C	10: 33,816,218 (GRCm39)	E242G	possibly damaging	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
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
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'- TATATGCATGCATGGATGGGC -3'
(R):5'- ACGATTTTCTCAGGCTCTCTGG -3'

Sequencing Primer
(F):5'- CATGCATGGATGGGCACTCTG -3'
(R):5'- CCACTTCAGCAGGTTGGTAAG -3'

Posted On

2015-04-02