Mutagenetix > Incidental Mutation

Incidental Mutation 'R0840:Dll4'

77099

Institutional Source

Beutler Lab

Gene Symbol

Dll4

Ensembl Gene

ENSMUSG00000027314

Gene Name

delta like canonical Notch ligand 4

Synonyms

Delta4

MMRRC Submission

039019-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0840 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

119156265-119166147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119156966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 79 (N79K)

Ref Sequence

ENSEMBL: ENSMUSP00000099575 (fasta)

Gene Model

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

AlphaFold

Q9JI71

Predicted Effect

probably benign
Transcript: ENSMUST00000102517
AA Change: N79K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099575
Gene: ENSMUSG00000027314
AA Change: N79K

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: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

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
2700049A03Rik	C	G	12: 71,205,657 (GRCm39)	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,382,547 (GRCm39)	T234A	probably benign	Het
Acot5	G	A	12: 84,122,614 (GRCm39)	W399*	probably null	Het
Adra1a	A	G	14: 66,965,159 (GRCm39)	E383G	possibly damaging	Het
Ahnak	T	A	19: 8,982,427 (GRCm39)	I1237N	probably damaging	Het
Bsg	A	G	10: 79,545,519 (GRCm39)	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,243,150 (GRCm39)	I436F	possibly damaging	Het
Cd109	T	C	9: 78,571,612 (GRCm39)	I417T	probably benign	Het
Cep295	A	T	9: 15,245,611 (GRCm39)	D948E	probably benign	Het
Cfap92	G	T	6: 87,657,260 (GRCm39)		noncoding transcript	Het
Clcn3	C	A	8: 61,382,188 (GRCm39)	V467F	probably benign	Het
Cntnap3	T	C	13: 64,935,724 (GRCm39)	S380G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ep300	A	T	15: 81,529,134 (GRCm39)	N1558I	unknown	Het
Fblim1	A	G	4: 141,308,320 (GRCm39)	F330L	possibly damaging	Het
Fbxo46	T	A	7: 18,871,073 (GRCm39)	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,384,007 (GRCm39)		probably benign	Het
Foxl2	A	T	9: 98,837,984 (GRCm39)	K91*	probably null	Het
Gapvd1	C	A	2: 34,619,125 (GRCm39)	V83F	probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
Irf8	G	A	8: 121,480,220 (GRCm39)	G153S	probably benign	Het
Kcnu1	T	A	8: 26,403,712 (GRCm39)	M1K	probably null	Het
Krt32	G	A	11: 99,972,068 (GRCm39)	P427S	probably benign	Het
Lrp12	A	G	15: 39,739,554 (GRCm39)	S529P	probably damaging	Het
Mettl22	T	C	16: 8,300,021 (GRCm39)	V134A	probably damaging	Het
Morc2b	G	T	17: 33,355,086 (GRCm39)	H895Q	probably benign	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,298,567 (GRCm39)	S1367G	possibly damaging	Het
Or10al7	A	G	17: 38,366,463 (GRCm39)	F7S	probably benign	Het
Or56b1b	A	T	7: 108,164,823 (GRCm39)	S60T	probably benign	Het
Pcnx3	T	A	19: 5,735,729 (GRCm39)		probably null	Het
Pgap2	A	T	7: 101,886,655 (GRCm39)	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,841,798 (GRCm39)	I616M	probably damaging	Het
Pisd	A	G	5: 32,894,656 (GRCm39)	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,420,745 (GRCm39)	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,363,378 (GRCm39)	I151T	probably benign	Het
Polr3a	G	A	14: 24,502,268 (GRCm39)	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,283 (GRCm39)		probably benign	Het
Prpf39	T	G	12: 65,094,980 (GRCm39)	N219K	probably benign	Het
Rnf17	T	A	14: 56,712,904 (GRCm39)	N790K	probably damaging	Het
Slit3	C	T	11: 35,514,263 (GRCm39)		probably benign	Het
Stx1a	T	A	5: 135,070,088 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,788,777 (GRCm39)	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,414,633 (GRCm39)	I143V	probably benign	Het
Tmem41b	G	A	7: 109,580,256 (GRCm39)	S36F	probably damaging	Het
Trim5	A	T	7: 103,914,978 (GRCm39)	W364R	probably damaging	Het
Ttn	T	C	2: 76,617,155 (GRCm39)	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,275,071 (GRCm39)	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,780,821 (GRCm39)	S145T	possibly damaging	Het
Zfp882	T	A	8: 72,668,530 (GRCm39)	C452*	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
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
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'- AGGTAATGTCTCACGTCCTCTCCG -3'
(R):5'- ACATAACTGGTGTTCGCGCAGC -3'

Sequencing Primer
(F):5'- TGAGCCTGACCGCTCTC -3'
(R):5'- CTCTCCGGGATGATCCTATGAG -3'

Posted On

2013-10-16