Mutagenetix > Incidental Mutation

Incidental Mutation 'R5604:Dll3'

439184

Institutional Source

Beutler Lab

Gene Symbol

Dll3

Ensembl Gene

ENSMUSG00000003436

Gene Name

delta like canonical Notch ligand 3

Synonyms

MMRRC Submission

043156-MU

Accession Numbers

Essential gene?

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

Stock #

R5604 (G1)

Quality Score

187

Status

Not validated

Chromosome

Chromosomal Location

27992980-28001210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27994057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 460 (V460A)

Ref Sequence

ENSEMBL: ENSMUSP00000103951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056589] [ENSMUST00000108315]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056589

SMART Domains

Protein: ENSMUSP00000050372
Gene: ENSMUSG00000046750

Domain	Start	End	E-Value	Type
low complexity region	58	98	N/A	INTRINSIC
low complexity region	180	191	N/A	INTRINSIC
Pfam:Rdx	246	324	4.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108315
AA Change: V460A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103951
Gene: ENSMUSG00000003436
AA Change: V460A

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,556,278 (GRCm39)	N164I	possibly damaging	Het
4933402J07Rik	C	A	8: 88,295,125 (GRCm39)	R88S	possibly damaging	Het
Abca1	A	T	4: 53,067,168 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,516,279 (GRCm39)	I4406K	probably damaging	Het
Adam6b	T	A	12: 113,454,420 (GRCm39)	Y412*	probably null	Het
Ahcyl2	C	T	6: 29,908,366 (GRCm39)	H370Y	probably damaging	Het
Ahi1	A	G	10: 20,862,904 (GRCm39)	Y693C	probably damaging	Het
Anapc4	T	A	5: 52,999,076 (GRCm39)	Y129*	probably null	Het
Ankrd35	A	G	3: 96,592,215 (GRCm39)	T834A	probably benign	Het
Antxr2	T	C	5: 98,096,169 (GRCm39)	K372E	probably damaging	Het
Arhgef1	C	T	7: 24,612,210 (GRCm39)	H198Y	probably benign	Het
Barhl2	T	C	5: 106,603,412 (GRCm39)	E249G	probably benign	Het
C2cd5	T	C	6: 142,957,747 (GRCm39)	E987G	probably benign	Het
C87436	T	C	6: 86,424,337 (GRCm39)	S290P	probably benign	Het
Ccser1	C	T	6: 61,290,788 (GRCm39)	T490M	probably damaging	Het
Cd8b1	T	C	6: 71,303,159 (GRCm39)	V78A	probably benign	Het
Cdc25c	A	G	18: 34,866,701 (GRCm39)	Y374H	probably damaging	Het
Cmya5	C	T	13: 93,229,271 (GRCm39)	R1939H	probably benign	Het
Cyp2d40	A	G	15: 82,648,256 (GRCm39)	F19S	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
E4f1	A	G	17: 24,663,118 (GRCm39)	I729T	probably damaging	Het
Endou	A	C	15: 97,618,800 (GRCm39)	S75A	probably benign	Het
Epas1	C	T	17: 87,113,200 (GRCm39)	H129Y	probably damaging	Het
Grm1	T	A	10: 10,622,479 (GRCm39)	N415Y	probably damaging	Het
Hdc	A	T	2: 126,436,583 (GRCm39)	S429R	probably benign	Het
Hnf4g	C	T	3: 3,722,186 (GRCm39)	Q447*	probably null	Het
Htr6	C	T	4: 138,788,814 (GRCm39)	A414T	probably benign	Het
Insig1	T	C	5: 28,280,080 (GRCm39)	L224P	probably damaging	Het
Ipo9	G	A	1: 135,329,983 (GRCm39)	L486F	probably damaging	Het
Irak2	T	A	6: 113,667,792 (GRCm39)	S458T	possibly damaging	Het
Irs2	A	G	8: 11,055,007 (GRCm39)	S1142P	possibly damaging	Het
Kirrel1	T	A	3: 86,996,462 (GRCm39)	N379I	possibly damaging	Het
L3mbtl4	T	A	17: 69,084,917 (GRCm39)	D609E	probably benign	Het
Lama3	A	G	18: 12,572,405 (GRCm39)	T537A	probably benign	Het
Lce1i	A	T	3: 92,685,056 (GRCm39)	V40E	unknown	Het
Mprip	T	A	11: 59,649,293 (GRCm39)	V999D	probably benign	Het
Myd88	G	T	9: 119,168,829 (GRCm39)	T85K	possibly damaging	Het
Or1e35	T	A	11: 73,797,853 (GRCm39)	H155L	probably benign	Het
Padi6	A	T	4: 140,458,473 (GRCm39)	M473K	probably damaging	Het
Pcdh12	T	A	18: 38,401,935 (GRCm39)	S97C	probably damaging	Het
Pkd1l1	T	A	11: 8,783,877 (GRCm39)	D2026V	probably damaging	Het
Plcxd1	T	C	5: 110,250,451 (GRCm39)	V264A	probably benign	Het
Plekha4	T	C	7: 45,198,580 (GRCm39)	S558P	probably damaging	Het
Ppm1a	T	A	12: 72,837,455 (GRCm39)	M334K	probably benign	Het
Ppp1r13l	T	C	7: 19,109,524 (GRCm39)	S684P	possibly damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Prl2a1	T	C	13: 27,990,369 (GRCm39)		probably benign	Het
Ptch1	T	C	13: 63,672,936 (GRCm39)	K753E	probably benign	Het
Qrich1	A	G	9: 108,436,502 (GRCm39)		probably benign	Het
Ror2	G	A	13: 53,271,201 (GRCm39)	R373C	probably benign	Het
Rtn4	C	A	11: 29,658,140 (GRCm39)	L765I	probably damaging	Het
Sema3a	T	C	5: 13,523,487 (GRCm39)		probably null	Het
Setd2	T	A	9: 110,433,284 (GRCm39)	D62E	probably damaging	Het
Ss18	A	T	18: 14,769,577 (GRCm39)	Y327N	unknown	Het
Ticam1	G	A	17: 56,578,756 (GRCm39)	T113I	probably benign	Het
Tnrc6a	A	G	7: 122,773,459 (GRCm39)	I1134V	probably damaging	Het
Top3b	T	G	16: 16,707,399 (GRCm39)	Y526*	probably null	Het
Tph2	T	C	10: 114,926,614 (GRCm39)	E384G	probably damaging	Het
Ttll11	A	T	2: 35,707,798 (GRCm39)	I503N	probably benign	Het
Zfp87	T	G	13: 67,665,945 (GRCm39)	K172N	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
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
R4875:Dll3	UTSW	7	27,995,860 (GRCm39)	missense	probably damaging	1.00
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'- CAGGTTGTTGAGTGCATCCG -3'
(R):5'- ACCGGGAACTTCTAAAGTATGGTC -3'

Sequencing Primer
(F):5'- TCCCAGAAAGCAGGCGAGTC -3'
(R):5'- GGAACTTCTAAAGTATGGTCCAACAG -3'

Posted On

2016-10-26