Mutagenetix > Incidental Mutation

Incidental Mutation 'R7251:Dll4'

563905

Institutional Source

Beutler Lab

Gene Symbol

Dll4

Ensembl Gene

ENSMUSG00000027314

Gene Name

delta like canonical Notch ligand 4

Synonyms

Delta4

MMRRC Submission

045313-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119156265-119166147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119162773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 465 (C465R)

Ref Sequence

ENSEMBL: ENSMUSP00000099575 (fasta)

Gene Model

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

AlphaFold

Q9JI71

Predicted Effect

probably damaging
Transcript: ENSMUST00000102517
AA Change: C465R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099575
Gene: ENSMUSG00000027314
AA Change: C465R

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

Meta Mutation Damage Score

0.9661

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adamts19	A	T	18: 58,970,974 (GRCm39)	D186V	probably damaging	Het
Agrn	T	C	4: 156,259,063 (GRCm39)	D884G	probably damaging	Het
Akr1c6	T	A	13: 4,497,019 (GRCm39)	C154S	probably damaging	Het
Apob	T	C	12: 8,057,037 (GRCm39)	Y1840H	probably damaging	Het
Arfgef1	T	C	1: 10,269,200 (GRCm39)	E399G	possibly damaging	Het
Arg2	G	A	12: 79,197,572 (GRCm39)	G197S	probably damaging	Het
Arhgap32	T	C	9: 32,119,481 (GRCm39)	V308A	probably damaging	Het
Atcay	A	T	10: 81,046,366 (GRCm39)	C319*	probably null	Het
Bend4	C	G	5: 67,584,876 (GRCm39)	R16P	unknown	Het
Braf	A	G	6: 39,654,504 (GRCm39)		probably null	Het
Camsap1	T	C	2: 25,828,898 (GRCm39)	E942G	probably damaging	Het
Cdpf1	C	T	15: 85,693,494 (GRCm39)	G11D	probably damaging	Het
Cgn	T	C	3: 94,683,509 (GRCm39)	E382G	possibly damaging	Het
Cndp1	T	A	18: 84,640,322 (GRCm39)	E294D	probably benign	Het
Cnn1	T	A	9: 22,019,513 (GRCm39)	Y294N	unknown	Het
Cyp2ab1	A	G	16: 20,134,646 (GRCm39)	F104S	possibly damaging	Het
Cyp2t4	G	A	7: 26,857,144 (GRCm39)	V336M	possibly damaging	Het
D430041D05Rik	T	A	2: 104,051,511 (GRCm39)	D782V	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dgkb	T	C	12: 38,031,985 (GRCm39)	S16P	possibly damaging	Het
Dsp	A	G	13: 38,377,524 (GRCm39)	I1770V	probably benign	Het
Fbxw11	A	G	11: 32,681,370 (GRCm39)	N250S	probably benign	Het
Fsip2	G	A	2: 82,809,425 (GRCm39)	V1915M	possibly damaging	Het
Greb1l	G	A	18: 10,515,319 (GRCm39)	V704M	probably damaging	Het
Hgf	T	A	5: 16,798,942 (GRCm39)	N323K	possibly damaging	Het
Hhatl	A	T	9: 121,614,116 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,132,813 (GRCm39)	S204P	probably damaging	Het
Igsf10	T	A	3: 59,226,875 (GRCm39)	N2266I	probably damaging	Het
Krtap15-1	A	G	16: 88,625,982 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,408,423 (GRCm39)	D1751G	probably damaging	Het
Madd	A	T	2: 90,992,521 (GRCm39)	D1050E	probably benign	Het
Man1c1	C	T	4: 134,308,147 (GRCm39)	G323R	probably damaging	Het
Mgll	A	G	6: 88,800,357 (GRCm39)	E252G	probably benign	Het
Muc2	A	G	7: 141,278,965 (GRCm39)	N145S	possibly damaging	Het
Ncoa2	C	T	1: 13,218,599 (GRCm39)	S1410N	probably benign	Het
Nek10	A	G	14: 14,853,965 (GRCm38)	T384A	probably benign	Het
Nexn	T	C	3: 151,952,832 (GRCm39)	E310G	probably damaging	Het
Nol10	T	C	12: 17,452,108 (GRCm39)	L354P	probably damaging	Het
Npy4r	T	C	14: 33,868,872 (GRCm39)	R139G	probably damaging	Het
Nup160	A	G	2: 90,530,518 (GRCm39)	E463G	probably damaging	Het
Or14c44	T	C	7: 86,062,209 (GRCm39)	V213A	probably benign	Het
Or52a33	C	T	7: 103,288,909 (GRCm39)	G146D	probably damaging	Het
Or8j3c	G	A	2: 86,253,940 (GRCm39)	L27F	probably benign	Het
Pdzd8	A	T	19: 59,289,077 (GRCm39)	N774K	possibly damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pot1a	T	C	6: 25,752,497 (GRCm39)		probably null	Het
Ppip5k1	T	A	2: 121,178,052 (GRCm39)	E283D	probably benign	Het
Ptpn2	A	C	18: 67,808,862 (GRCm39)	I318R	possibly damaging	Het
Raph1	A	G	1: 60,529,027 (GRCm39)	F745L	unknown	Het
Rgs19	C	T	2: 181,331,541 (GRCm39)	V88I	probably benign	Het
Ripk4	A	G	16: 97,544,449 (GRCm39)	S733P	probably benign	Het
Rprd1b	T	A	2: 157,870,899 (GRCm39)	W29R	probably damaging	Het
Rtkn	A	G	6: 83,112,943 (GRCm39)	N5S	probably damaging	Het
Sh3bp5l	A	T	11: 58,232,128 (GRCm39)	Q131L	probably damaging	Het
Slain2	T	A	5: 73,131,891 (GRCm39)	F461I	possibly damaging	Het
Stk24	A	T	14: 121,545,434 (GRCm39)	L108Q	probably damaging	Het
Syne3	TC	T	12: 104,927,830 (GRCm39)		probably null	Het
Tapbpl	A	T	6: 125,203,558 (GRCm39)	V374E	probably damaging	Het
Tax1bp1	A	G	6: 52,698,341 (GRCm39)	I18V	possibly damaging	Het
Tecta	T	A	9: 42,299,048 (GRCm39)	I233F	probably damaging	Het
Tet3	A	G	6: 83,381,038 (GRCm39)	S377P	probably benign	Het
Uty	A	G	Y: 1,154,262 (GRCm39)	S721P	probably benign	Het
Wnk4	C	A	11: 101,155,979 (GRCm39)	T412K	possibly damaging	Het
Zdhhc11	G	T	13: 74,140,216 (GRCm39)	V336L	probably benign	Het
Zfp605	T	A	5: 110,275,826 (GRCm39)	S315T	probably damaging	Het
Zfp746	A	G	6: 48,041,811 (GRCm39)	L305P	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
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
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'- ACAGGCTATTGCTGATGCG -3'
(R):5'- ACAGATTGTTCATGGCTTCCC -3'

Sequencing Primer
(F):5'- GGGTCCTGTGCCCTTACAG -3'
(R):5'- TGACCAGGAGCACCAGCAG -3'

Posted On

2019-06-26