Mutagenetix > Incidental Mutation

Incidental Mutation 'R4424:Dll3'

327262

Institutional Source

Beutler Lab

Gene Symbol

Dll3

Ensembl Gene

ENSMUSG00000003436

Gene Name

delta like canonical Notch ligand 3

Synonyms

MMRRC Submission

041696-MU

Accession Numbers

Essential gene?

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

Stock #

R4424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27992980-28001210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27995716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 362 (N362D)

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: N362D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103951
Gene: ENSMUSG00000003436
AA Change: N362D

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

0.8130

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (69/73)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,491 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Ankrd16	T	A	2: 11,789,215 (GRCm39)	D267E	possibly damaging	Het
Apol11b	A	G	15: 77,522,133 (GRCm39)		probably null	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Arid3b	A	T	9: 57,741,151 (GRCm39)	D98E	probably benign	Het
Art2b	T	A	7: 101,229,129 (GRCm39)	I257F	probably benign	Het
Atp5f1a	T	A	18: 77,867,766 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,738,928 (GRCm39)	T861A	probably benign	Het
Cep164	A	T	9: 45,691,002 (GRCm39)	F1259L	possibly damaging	Het
Cfap91	G	T	16: 38,140,727 (GRCm39)	P409T	probably damaging	Het
Chrnd	T	C	1: 87,123,512 (GRCm39)	V350A	probably benign	Het
Clcn7	T	C	17: 25,379,150 (GRCm39)	L744P	probably damaging	Het
Csl	T	A	10: 99,594,453 (GRCm39)	D204V	possibly damaging	Het
Cstdc3	A	G	16: 36,132,951 (GRCm39)	D76G	probably null	Het
Cyp2c29	G	T	19: 39,275,620 (GRCm39)	W20L	probably damaging	Het
Dhrs13	G	T	11: 77,927,951 (GRCm39)	G266*	probably null	Het
Efcab3	T	G	11: 104,626,940 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,015,532 (GRCm39)	V715A	probably benign	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Fpr2	C	T	17: 18,113,394 (GRCm39)	P130L	probably damaging	Het
Glce	A	G	9: 61,967,535 (GRCm39)	Y539H	probably damaging	Het
Hfe	A	T	13: 23,890,866 (GRCm39)	V91E	probably benign	Het
Hoxd13	A	T	2: 74,500,301 (GRCm39)	K281*	probably null	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Impg2	G	A	16: 56,080,388 (GRCm39)	V622I	possibly damaging	Het
Jun	A	G	4: 94,939,084 (GRCm39)	M142T	probably benign	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lama3	T	A	18: 12,652,929 (GRCm39)	C216*	probably null	Het
Lin54	G	T	5: 100,594,419 (GRCm39)	T582K	probably damaging	Het
Mapk11	A	G	15: 89,029,576 (GRCm39)		probably null	Het
Mindy3	A	G	2: 12,353,010 (GRCm39)	M397T	probably benign	Het
Mrpl41	T	C	2: 24,864,418 (GRCm39)	T85A	possibly damaging	Het
Msh6	T	A	17: 88,298,217 (GRCm39)	L1354*	probably null	Het
Mtmr12	T	C	15: 12,230,400 (GRCm39)	V41A	probably damaging	Het
Myh2	A	T	11: 67,083,551 (GRCm39)	Q1478L	probably benign	Het
Myo6	A	G	9: 80,195,320 (GRCm39)	K897E	probably benign	Het
Naprt	G	T	15: 75,764,605 (GRCm39)		probably null	Het
Nrl	G	A	14: 55,759,675 (GRCm39)	S84L	probably benign	Het
Nxf1	A	G	19: 8,744,128 (GRCm39)		probably benign	Het
Or8g2b	A	T	9: 39,751,652 (GRCm39)	R307S	possibly damaging	Het
Panx2	G	T	15: 88,952,423 (GRCm39)	V305F	probably benign	Het
Pcdhga1	T	C	18: 37,795,632 (GRCm39)	L212P	probably damaging	Het
Pik3ap1	G	A	19: 41,364,320 (GRCm39)	T133I	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkdc	G	A	16: 15,653,946 (GRCm39)	R3901H	probably damaging	Het
Prkdc	A	G	16: 15,591,603 (GRCm39)	K2694E	probably damaging	Het
Psma8	A	G	18: 14,854,247 (GRCm39)	I42M	probably damaging	Het
Ptprd	A	T	4: 76,021,200 (GRCm39)	M599K	probably benign	Het
Rnmt	A	G	18: 68,444,742 (GRCm39)	D237G	probably null	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scaf11	G	A	15: 96,316,309 (GRCm39)	T1085I	possibly damaging	Het
Sec14l3	G	A	11: 4,016,210 (GRCm39)	R43Q	probably damaging	Het
Shc4	G	T	2: 125,494,442 (GRCm39)	T131K	probably benign	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Sorcs1	T	C	19: 50,367,379 (GRCm39)	T228A	probably damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Sptan1	C	T	2: 29,919,721 (GRCm39)		probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Upf3a	C	A	8: 13,846,573 (GRCm39)	P318T	probably benign	Het
Zbtb40	A	T	4: 136,726,005 (GRCm39)	M518K	probably damaging	Het
Zcchc14	G	A	8: 122,378,680 (GRCm39)		probably benign	Het
Zfp687	G	A	3: 94,916,439 (GRCm39)	P861L	probably damaging	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
R4873:Dll3	UTSW	7	27,995,860 (GRCm39)	missense	probably damaging	1.00
R4875: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'- AGTCTGTTCTGGCCACACTG -3'
(R):5'- ATTCTACGGGCTTCGATGTGAG -3'

Sequencing Primer
(F):5'- CCACAACAGGGATTTTTGGC -3'
(R):5'- TGAGGTGAGCGGGGTCAC -3'

Posted On

2015-07-07