Mutagenetix > Incidental Mutation

Incidental Mutation 'R7694:Dll3'

593545

Institutional Source

Beutler Lab

Gene Symbol

Dll3

Ensembl Gene

ENSMUSG00000003436

Gene Name

delta like canonical Notch ligand 3

Synonyms

MMRRC Submission

045757-MU

Accession Numbers

Essential gene?

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

Stock #

R7694 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27992980-28001210 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to C at 28001170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000103951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081946] [ENSMUST00000108315]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081946

SMART Domains

Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
CPDc	146	274	1.33e-41	SMART
low complexity region	313	330	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108315
AA Change: M1R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103951
Gene: ENSMUSG00000003436
AA Change: M1R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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
Afdn	T	G	17: 14,109,144 (GRCm39)	S1571A	probably damaging	Het
Agbl1	C	A	7: 76,348,513 (GRCm39)	A870D	unknown	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Ankrd55	T	C	13: 112,504,498 (GRCm39)	Y415H	probably damaging	Het
Cd69	G	A	6: 129,247,008 (GRCm39)	R111C	possibly damaging	Het
Cdh26	A	T	2: 178,101,896 (GRCm39)	T172S	probably damaging	Het
Cflar	T	A	1: 58,791,966 (GRCm39)	V423E		Het
Cgrrf1	A	C	14: 47,091,415 (GRCm39)	Q313P	possibly damaging	Het
Chga	G	A	12: 102,527,606 (GRCm39)	A87T	probably benign	Het
Chrna4	T	A	2: 180,660,386 (GRCm39)	D102V		Het
Cpvl	A	T	6: 53,909,502 (GRCm39)	Y211*	probably null	Het
Cyp26a1	G	A	19: 37,689,512 (GRCm39)	D403N	possibly damaging	Het
Dchs2	T	C	3: 83,036,789 (GRCm39)	L512P	probably damaging	Het
Dnah12	A	G	14: 26,503,337 (GRCm39)	T1564A	probably damaging	Het
Efhb	A	G	17: 53,707,836 (GRCm39)	S776P	probably damaging	Het
Eml5	T	C	12: 98,758,822 (GRCm39)	S1831G	probably damaging	Het
Fat1	G	T	8: 45,441,967 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,632,375 (GRCm39)	K1255E	probably benign	Het
Fitm2	C	T	2: 163,311,892 (GRCm39)	C107Y	probably damaging	Het
Gdpd4	T	C	7: 97,621,146 (GRCm39)	V153A	probably benign	Het
Ggnbp2	A	G	11: 84,751,539 (GRCm39)	V87A	possibly damaging	Het
Glb1l	G	T	1: 75,178,436 (GRCm39)	A334E	probably damaging	Het
Gnas	T	G	2: 174,142,005 (GRCm39)	L784R	probably damaging	Het
Gtf2i	C	T	5: 134,311,659 (GRCm39)	E223K	probably damaging	Het
H2-M10.5	T	C	17: 37,084,641 (GRCm39)	Y122H	probably damaging	Het
Hikeshi	G	A	7: 89,579,554 (GRCm39)	Q6*	probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Irak2	A	C	6: 113,667,859 (GRCm39)	D528A	probably damaging	Het
Lcn2	A	G	2: 32,278,042 (GRCm39)	C17R	unknown	Het
Lcp2	G	T	11: 34,000,924 (GRCm39)	V36L	probably benign	Het
Lin7c	T	C	2: 109,726,617 (GRCm39)	S89P	probably benign	Het
Lrrc37a	C	T	11: 103,395,204 (GRCm39)	A74T	probably benign	Het
Lrrtm3	T	A	10: 63,923,818 (GRCm39)	M450L	probably benign	Het
Lsm11	C	T	11: 45,824,768 (GRCm39)	R253Q	probably benign	Het
Map9	A	T	3: 82,266,290 (GRCm39)		probably benign	Het
Mmp2	T	A	8: 93,558,358 (GRCm39)	D142E	possibly damaging	Het
Nrn1l	A	T	8: 106,621,430 (GRCm39)	T127S	probably damaging	Het
Or14c46	T	C	7: 85,918,983 (GRCm39)	T5A	probably damaging	Het
Pelp1	G	A	11: 70,285,585 (GRCm39)	T761I	probably damaging	Het
Pmm2	T	A	16: 8,463,254 (GRCm39)	V63E	probably damaging	Het
Ptprb	T	A	10: 116,208,853 (GRCm39)	L1942H	probably damaging	Het
Ptprk	T	A	10: 28,465,366 (GRCm39)	C1350S	possibly damaging	Het
Rnf44	A	G	13: 54,829,841 (GRCm39)	V381A	probably damaging	Het
Robo3	G	A	9: 37,329,816 (GRCm39)	P1167S	probably benign	Het
Ryk	A	G	9: 102,775,979 (GRCm39)	E489G	probably damaging	Het
Satb2	T	A	1: 56,910,683 (GRCm39)	I321L	probably benign	Het
Sh2b1	A	T	7: 126,066,929 (GRCm39)	V655E	probably benign	Het
Slc16a12	G	A	19: 34,648,035 (GRCm39)	T486M	probably damaging	Het
Slc34a1	G	T	13: 55,561,221 (GRCm39)	R562L	probably benign	Het
Slc4a9	A	G	18: 36,669,902 (GRCm39)	E779G	probably damaging	Het
Strc	C	A	2: 121,207,577 (GRCm39)	C598F	probably damaging	Het
Stxbp6	A	T	12: 44,948,810 (GRCm39)	F100I	probably damaging	Het
Tap2	A	G	17: 34,424,671 (GRCm39)	T135A	probably benign	Het
Tmcc1	G	A	6: 116,110,805 (GRCm39)	P159S		Het
Tmem106b	T	A	6: 13,078,105 (GRCm39)	M100K	probably benign	Het
Ttn	T	A	2: 76,578,039 (GRCm39)	T24285S	probably damaging	Het
Vmn1r116	G	A	7: 20,606,337 (GRCm39)	V53M	possibly damaging	Het
Zar1	A	T	5: 72,738,193 (GRCm39)	S70T	probably benign	Het
Zfp235	C	T	7: 23,841,525 (GRCm39)	T648M	probably benign	Het
Zfp937	C	T	2: 150,081,268 (GRCm39)	H433Y	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
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
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'- TAGCTCGAAGACACCAGCTG -3'
(R):5'- CATGCAATCACACTCAGGATG -3'

Sequencing Primer
(F):5'- AGACACCAGCTGGCAGTG -3'
(R):5'- GGATGAACCTCACCAAGTCG -3'

Posted On

2019-11-12