Mutagenetix > Incidental Mutation

Incidental Mutation 'R6305:Dll4'

509574

Institutional Source

Beutler Lab

Gene Symbol

Dll4

Ensembl Gene

ENSMUSG00000027314

Gene Name

delta like canonical Notch ligand 4

Synonyms

Delta4

MMRRC Submission

044411-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119156265-119166147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119161138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 299 (S299T)

Ref Sequence

ENSEMBL: ENSMUSP00000099575 (fasta)

Gene Model

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

AlphaFold

Q9JI71

Predicted Effect

probably benign
Transcript: ENSMUST00000102517
AA Change: S299T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099575
Gene: ENSMUSG00000027314
AA Change: S299T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (61/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,741 (GRCm39)	S977P	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Adcy6	T	A	15: 98,496,526 (GRCm39)	I550L	probably benign	Het
Agbl3	G	A	6: 34,759,145 (GRCm39)	D19N	unknown	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgap39	T	A	15: 76,621,902 (GRCm39)	D233V	probably benign	Het
Bcl9	G	A	3: 97,113,254 (GRCm39)	P1067L	possibly damaging	Het
Casd1	C	T	6: 4,641,892 (GRCm39)	T723I	probably damaging	Het
Cd209g	T	A	8: 4,186,809 (GRCm39)	I118N	probably benign	Het
Cdh24	A	T	14: 54,869,813 (GRCm39)	D701E	possibly damaging	Het
Chd9	C	T	8: 91,757,174 (GRCm39)	P1858S	possibly damaging	Het
Csnk1g3	T	A	18: 54,065,384 (GRCm39)	Y322*	probably null	Het
Cyp2f2	G	A	7: 26,828,649 (GRCm39)	R173H	probably damaging	Het
D130043K22Rik	T	C	13: 25,069,668 (GRCm39)	F909S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg4	T	A	18: 20,582,847 (GRCm39)	Y162N	probably damaging	Het
Enpp1	T	C	10: 24,517,780 (GRCm39)	Y882C	probably damaging	Het
Fbxw7	T	A	3: 84,883,630 (GRCm39)	N520K	probably damaging	Het
Galc	C	T	12: 98,225,549 (GRCm39)	A14T	possibly damaging	Het
Grm7	G	A	6: 111,335,626 (GRCm39)	R679Q	probably damaging	Het
Hnrnpdl	T	C	5: 100,186,517 (GRCm39)		probably benign	Het
Il12a	A	T	3: 68,601,511 (GRCm39)	K77N	possibly damaging	Het
Il17rd	C	T	14: 26,817,899 (GRCm39)	S196L	possibly damaging	Het
Kcnv2	T	C	19: 27,301,237 (GRCm39)	F363L	probably benign	Het
Lair1	A	G	7: 4,013,727 (GRCm39)		probably null	Het
Lrit3	G	A	3: 129,594,109 (GRCm39)	T156I	probably damaging	Het
Me2	T	A	18: 73,924,915 (GRCm39)	R267S	probably benign	Het
Mga	T	C	2: 119,778,179 (GRCm39)	V1908A	probably benign	Het
Mylk3	T	A	8: 86,077,048 (GRCm39)	I463F	probably damaging	Het
Neb	G	A	2: 52,141,775 (GRCm39)	R75*	probably null	Het
Niban1	T	C	1: 151,571,469 (GRCm39)	L248P	probably damaging	Het
Or10a3b	C	T	7: 108,444,761 (GRCm39)	G152D	possibly damaging	Het
Or1j11	T	A	2: 36,311,634 (GRCm39)	S75T	probably damaging	Het
Or5p50	T	G	7: 107,421,864 (GRCm39)	T271P	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TG	TGGTGTTGG	9: 37,937,838 (GRCm39)		probably null	Het
Or8k33	A	G	2: 86,383,839 (GRCm39)	S210P	possibly damaging	Het
Pfas	A	G	11: 68,892,023 (GRCm39)	S162P	possibly damaging	Het
Pip5k1c	T	A	10: 81,151,768 (GRCm39)	V654E	probably benign	Het
Plxdc1	C	A	11: 97,829,416 (GRCm39)	C318F	probably damaging	Het
Qrfprl	A	T	6: 65,431,975 (GRCm39)	M293L	probably benign	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rexo5	A	T	7: 119,427,348 (GRCm39)	K419N	probably damaging	Het
Septin4	C	T	11: 87,458,145 (GRCm39)	T173M	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc24a4	C	A	12: 102,188,360 (GRCm39)	T151K	possibly damaging	Het
Slc6a15	A	T	10: 103,225,031 (GRCm39)	I40F	probably benign	Het
Slc6a21	T	C	7: 44,930,028 (GRCm39)	V172A	possibly damaging	Het
Thrap3	A	G	4: 126,074,600 (GRCm39)		probably benign	Het
Tm9sf3	A	G	19: 41,233,881 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,479,533 (GRCm39)	H211L	probably damaging	Het
Ttc21b	A	T	2: 66,018,614 (GRCm39)	N1264K	probably damaging	Het
Vmn1r120	A	T	7: 20,787,531 (GRCm39)	V60E	possibly damaging	Het
Ylpm1	A	G	12: 85,077,319 (GRCm39)	E890G	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp934	T	C	13: 62,666,370 (GRCm39)	Y102C	probably 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
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
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'- TAGTTTCAGGCGAGTGAATGCTC -3'
(R):5'- ACCACACTGACTGGATGCTAC -3'

Sequencing Primer
(F):5'- ATGCTCAGGATTTCACAGGC -3'
(R):5'- ACTGGATGCTACCTGGTTAGACC -3'

Posted On

2018-04-02