Mutagenetix > Incidental Mutation

Incidental Mutation 'R4875:Dll3'

376728

Institutional Source

Beutler Lab

Gene Symbol

Dll3

Ensembl Gene

ENSMUSG00000003436

Gene Name

delta like canonical Notch ligand 3

Synonyms

MMRRC Submission

044392-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

R4875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27992980-28001210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27995860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 314 (C314R)

Ref Sequence

ENSEMBL: ENSMUSP00000103951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108315]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000108315
AA Change: C314R

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

SMART Domains

Protein: ENSMUSP00000103951
Gene: ENSMUSG00000003436
AA Change: C314R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Blast:EGF	60	118	3e-18	BLAST
low complexity region	140	154	N/A	INTRINSIC
low complexity region	183	198	N/A	INTRINSIC
EGF	211	247	1.53e1	SMART
EGF	275	308	3.08e-6	SMART
EGF	313	349	8.25e-7	SMART
EGF	354	387	2.83e-5	SMART
EGF	392	425	1.04e-3	SMART
EGF	430	463	7.07e-6	SMART
transmembrane domain	489	511	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145512

Meta Mutation Damage Score

0.9710

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (57/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, a shortened body and tail, delayed and abnormal somite formation, a kinked neural tube, disorganized PNS elements, and severe axial skeletal dysplasia, including disorganized vertebrae and ribs defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,521,189 (GRCm39)	E119D	probably benign	Het
Alox5	A	T	6: 116,390,811 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,011,515 (GRCm39)	V1294A	probably damaging	Het
BB019430	A	G	10: 58,539,865 (GRCm39)		noncoding transcript	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Catsperb	A	T	12: 101,554,244 (GRCm39)	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,429,356 (GRCm39)	I114T	probably damaging	Het
Cecr2	T	C	6: 120,727,877 (GRCm39)	L340P	probably damaging	Het
Ces2e	T	A	8: 105,653,817 (GRCm39)	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,161,964 (GRCm39)	T79K	probably damaging	Het
Cntn4	G	A	6: 106,414,874 (GRCm39)	R135H	possibly damaging	Het
Cpne8	T	A	15: 90,532,771 (GRCm39)		probably benign	Het
Ctso	C	T	3: 81,849,688 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,389,659 (GRCm39)	M235I	probably benign	Het
Dnah7c	A	G	1: 46,728,085 (GRCm39)	N2928D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dqx1	C	A	6: 83,037,993 (GRCm39)	D460E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,051,164 (GRCm39)	C438R	probably damaging	Het
Ehd3	T	G	17: 74,112,299 (GRCm39)	V21G	probably damaging	Het
Ero1b	G	A	13: 12,619,325 (GRCm39)	V440I	probably damaging	Het
Fpgt	G	A	3: 154,793,550 (GRCm39)	A159V	probably damaging	Het
Gcn1	T	C	5: 115,714,229 (GRCm39)	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,639,226 (GRCm39)	R439W	probably damaging	Het
Gm4353	G	C	7: 115,683,648 (GRCm39)	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,700,101 (GRCm39)	A224T	probably benign	Het
Helz	T	A	11: 107,528,560 (GRCm39)		probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcns1	T	C	2: 164,010,021 (GRCm39)	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,742,892 (GRCm39)	E549G	probably benign	Het
Krt9	T	C	11: 100,080,863 (GRCm39)	I330V	probably benign	Het
Lair1	A	T	7: 4,032,033 (GRCm39)	S25T	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Luzp2	A	G	7: 54,816,996 (GRCm39)	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,557,422 (GRCm39)	S143T	probably benign	Het
Mcph1	A	G	8: 18,675,574 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,396,986 (GRCm39)	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,208,209 (GRCm39)	T168M	probably benign	Het
Mospd4	G	T	18: 46,598,804 (GRCm39)		noncoding transcript	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,379,114 (GRCm39)	V626A	probably damaging	Het
Naa80	C	T	9: 107,460,818 (GRCm39)	R238C	probably damaging	Het
Ncam1	T	C	9: 49,418,921 (GRCm39)		probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ndufv1	T	C	19: 4,062,653 (GRCm39)		probably null	Het
Nlrp2	A	T	7: 5,301,858 (GRCm39)	F211L	probably benign	Het
Or10a49	A	T	7: 108,467,993 (GRCm39)	F123I	probably damaging	Het
Or10q12	T	A	19: 13,746,126 (GRCm39)	M140K	probably damaging	Het
Or2ad1	T	A	13: 21,326,450 (GRCm39)	Y259F	probably damaging	Het
Osbpl11	G	A	16: 33,054,863 (GRCm39)	V649I	probably benign	Het
Pax8	T	A	2: 24,331,652 (GRCm39)	M144L	probably benign	Het
Pcnt	T	C	10: 76,205,688 (GRCm39)	T2555A	probably benign	Het
Plat	T	A	8: 23,258,466 (GRCm39)	I23K	probably benign	Het
Plpp2	G	A	10: 79,366,763 (GRCm39)	T51M	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,957,742 (GRCm39)	M233V	probably benign	Het
Prox1	A	C	1: 189,894,319 (GRCm39)	F42C	probably damaging	Het
Pwwp2b	A	T	7: 138,835,978 (GRCm39)	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,707,443 (GRCm39)	N127K	probably null	Het
Scn1a	T	C	2: 66,158,820 (GRCm39)	T367A	possibly damaging	Het
Slc23a2	A	G	2: 131,898,800 (GRCm39)	I579T	possibly damaging	Het
Sp9	T	C	2: 73,103,962 (GRCm39)	V172A	possibly damaging	Het
Spta1	T	A	1: 174,003,396 (GRCm39)	L109Q	probably damaging	Het
Strap	ACCTGCCCTCCT	ACCT	6: 137,726,316 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,038,343 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,206 (GRCm39)	V15A	probably damaging	Het
Tgif2-ps2	A	G	17: 40,426,274 (GRCm39)		noncoding transcript	Het
Tnrc18	A	T	5: 142,750,932 (GRCm39)	M1216K	unknown	Het
Tpst2	T	A	5: 112,457,687 (GRCm39)	Y69*	probably null	Het
Tpx2	C	A	2: 152,735,535 (GRCm39)	A721E	probably benign	Het
Trmt1l	A	G	1: 151,330,755 (GRCm39)	T591A	probably benign	Het
Tuba8	T	A	6: 121,203,042 (GRCm39)		probably benign	Het
Ubiad1	T	C	4: 148,528,556 (GRCm39)	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,424,566 (GRCm39)	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,457,108 (GRCm39)	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,308,367 (GRCm39)	I624V	probably damaging	Het
Wdr4	A	G	17: 31,718,129 (GRCm39)	V315A	probably benign	Het
Xpo7	T	C	14: 70,914,256 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,403 (GRCm39)	W190R	probably damaging	Het
Zfp971	A	G	2: 177,674,940 (GRCm39)	T180A	probably benign	Het

Other mutations in Dll3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0024:Dll3	UTSW	7	27,999,586 (GRCm39)	splice site	probably benign
R0138:Dll3	UTSW	7	28,000,746 (GRCm39)	missense	possibly damaging	0.88
R0322:Dll3	UTSW	7	27,995,793 (GRCm39)	missense	possibly damaging	0.88
R0479:Dll3	UTSW	7	28,000,974 (GRCm39)	missense	probably damaging	1.00
R1711:Dll3	UTSW	7	27,993,922 (GRCm39)	missense	probably damaging	0.98
R1742:Dll3	UTSW	7	27,993,848 (GRCm39)	missense	probably benign	0.37
R1854:Dll3	UTSW	7	27,995,835 (GRCm39)	missense	probably damaging	1.00
R1920:Dll3	UTSW	7	27,998,348 (GRCm39)	missense	probably benign
R3037:Dll3	UTSW	7	27,998,542 (GRCm39)	missense	probably damaging	0.99
R3158:Dll3	UTSW	7	27,993,520 (GRCm39)	missense	possibly damaging	0.50
R4306:Dll3	UTSW	7	28,001,082 (GRCm39)	splice site	probably null
R4424:Dll3	UTSW	7	27,995,716 (GRCm39)	missense	probably damaging	1.00
R4873:Dll3	UTSW	7	27,995,860 (GRCm39)	missense	probably damaging	1.00
R5604:Dll3	UTSW	7	27,994,057 (GRCm39)	missense	probably benign
R5770:Dll3	UTSW	7	27,998,434 (GRCm39)	missense	possibly damaging	0.84
R5988:Dll3	UTSW	7	27,993,537 (GRCm39)	missense	probably damaging	0.98
R7204:Dll3	UTSW	7	27,998,330 (GRCm39)	missense	possibly damaging	0.95
R7347:Dll3	UTSW	7	27,998,536 (GRCm39)	missense	probably damaging	0.99
R7373:Dll3	UTSW	7	27,994,057 (GRCm39)	missense	probably benign
R7694:Dll3	UTSW	7	28,001,170 (GRCm39)	start codon destroyed	probably null	0.83
R7829:Dll3	UTSW	7	27,994,075 (GRCm39)	missense	probably damaging	0.99
R7905:Dll3	UTSW	7	28,000,960 (GRCm39)	missense	possibly damaging	0.61
R8681:Dll3	UTSW	7	27,994,270 (GRCm39)	missense	probably damaging	0.99
R8988:Dll3	UTSW	7	27,995,793 (GRCm39)	missense	possibly damaging	0.89
R9519:Dll3	UTSW	7	27,995,764 (GRCm39)	missense	probably damaging	0.96
Z1177:Dll3	UTSW	7	28,000,808 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTGTATTTCCCACCCAGGATC -3'
(R):5'- GGACTTGGGGATGAACTAAGCC -3'

Sequencing Primer
(F):5'- CCAGGATCATCTGAGTCATGCAG -3'
(R):5'- GGATGAACTAAGCCACCCATAGTG -3'

Posted On

2016-03-17