Mutagenetix > Incidental Mutation

Incidental Mutation 'R1345:Dll1'

156479

Institutional Source

Beutler Lab

Gene Symbol

Dll1

Ensembl Gene

ENSMUSG00000014773

Gene Name

delta like canonical Notch ligand 1

Synonyms

Delta1

MMRRC Submission

039410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1345 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

15587616-15597134 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 15593817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 183 (Y183*)

Ref Sequence

ENSEMBL: ENSMUSP00000014917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014917] [ENSMUST00000143460]

AlphaFold

Q61483

Predicted Effect

probably null
Transcript: ENSMUST00000014917
AA Change: Y183*

SMART Domains

Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: Y183*

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:MNNL	21	93	2.2e-28	PFAM
DSL	158	220	3.91e-36	SMART
EGF	224	254	9.82e0	SMART
EGF	255	285	1.43e-1	SMART
EGF_CA	287	325	5.48e-12	SMART
EGF_CA	327	363	2.94e-12	SMART
EGF	368	402	3.54e-6	SMART
EGF_CA	404	440	8.5e-9	SMART
EGF_CA	442	478	2.08e-12	SMART
EGF	483	516	4.59e-5	SMART
transmembrane domain	545	567	N/A	INTRINSIC
low complexity region	578	589	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129395

Predicted Effect

probably benign
Transcript: ENSMUST00000143460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181251

Meta Mutation Damage Score

0.9704

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 92.3%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos do not survive and have mesodermal segments with no cranio-caudal polarity and no epithelial somites develop; caudal sclerotome halves do not condense, the pattern. Mice heterozygous for a knock-out or ENU allele exhibit abnormal metabolic and immunological phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,635,152 (GRCm39)	V129I	probably damaging	Het
Akr1c18	T	C	13: 4,195,213 (GRCm39)	T82A	possibly damaging	Het
Alx1	A	G	10: 102,864,353 (GRCm39)	S39P	possibly damaging	Het
Atr	A	G	9: 95,802,408 (GRCm39)	T1767A	probably benign	Het
Brf1	A	T	12: 112,924,728 (GRCm39)		probably null	Het
Cd86	A	G	16: 36,438,686 (GRCm39)		probably null	Het
Cdan1	A	G	2: 120,549,620 (GRCm39)		probably null	Het
Cntln	A	G	4: 84,892,228 (GRCm39)	D371G	probably damaging	Het
Cypt4	A	G	9: 24,536,515 (GRCm39)	T2A	possibly damaging	Het
Dnmt1	G	T	9: 20,819,814 (GRCm39)	P1444Q	probably damaging	Het
Ern2	A	G	7: 121,776,993 (GRCm39)	L309P	probably damaging	Het
Fam151a	A	G	4: 106,599,491 (GRCm39)	K142E	probably damaging	Het
Fbn1	T	C	2: 125,156,591 (GRCm39)	E2378G	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kdm5b	A	C	1: 134,558,288 (GRCm39)	T1432P	possibly damaging	Het
Kif2a	G	A	13: 107,130,423 (GRCm39)	S15F	probably damaging	Het
Lzic	A	G	4: 149,571,308 (GRCm39)	E31G	probably damaging	Het
Mmp16	A	G	4: 18,112,021 (GRCm39)	M466V	probably benign	Het
Mtm1	T	C	X: 70,330,837 (GRCm39)	V203A	probably benign	Het
Muc21	T	A	17: 35,932,489 (GRCm39)		probably benign	Het
Neurl4	A	G	11: 69,794,702 (GRCm39)	M249V	probably benign	Het
Or6c76b	T	C	10: 129,692,759 (GRCm39)	I124T	probably damaging	Het
Plxna2	T	C	1: 194,326,794 (GRCm39)	Y243H	probably damaging	Het
Rbm44	A	G	1: 91,080,481 (GRCm39)	N223S	probably damaging	Het
Sel1l3	G	T	5: 53,357,559 (GRCm39)	H144Q	possibly damaging	Het
Simc1	A	ANNNNNNNNNNNNNNNNNNNNN	13: 54,673,060 (GRCm39)		probably benign	Het
Snrpb2	A	G	2: 142,907,086 (GRCm39)		probably benign	Het
Spata31d1d	T	G	13: 59,873,838 (GRCm39)	K1232N	possibly damaging	Het
Spink5	A	T	18: 44,123,749 (GRCm39)	E345D	possibly damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tarbp1	T	C	8: 127,175,069 (GRCm39)	D789G	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmem232	T	C	17: 65,757,401 (GRCm39)	N264S	possibly damaging	Het
Trim43b	G	C	9: 88,967,725 (GRCm39)	L303V	possibly damaging	Het
Tulp2	C	A	7: 45,168,145 (GRCm39)	R298S	probably benign	Het
Usp42	A	G	5: 143,703,088 (GRCm39)	V511A	probably damaging	Het
Vav1	A	T	17: 57,608,214 (GRCm39)	T321S	probably benign	Het
Vmn1r169	A	C	7: 23,277,247 (GRCm39)	H213P	probably damaging	Het
Vmn1r170	C	T	7: 23,305,787 (GRCm39)	T63I	probably benign	Het
Vmn2r103	T	G	17: 20,014,509 (GRCm39)	W434G	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp7	T	C	15: 76,774,908 (GRCm39)	S317P	probably damaging	Het

Other mutations in Dll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Dll1	APN	17	15,588,768 (GRCm39)	missense	probably damaging	0.98
IGL03006:Dll1	APN	17	15,593,854 (GRCm39)	missense	probably benign	0.00
IGL03218:Dll1	APN	17	15,593,830 (GRCm39)	missense	probably benign	0.14
IGL03281:Dll1	APN	17	15,593,866 (GRCm39)	missense	probably benign	0.03
R0054:Dll1	UTSW	17	15,589,216 (GRCm39)	missense	probably damaging	1.00
R2290:Dll1	UTSW	17	15,595,010 (GRCm39)	missense	probably benign	0.00
R3776:Dll1	UTSW	17	15,588,786 (GRCm39)	missense	probably benign
R4620:Dll1	UTSW	17	15,590,828 (GRCm39)	missense	probably benign	0.03
R4837:Dll1	UTSW	17	15,589,121 (GRCm39)	missense	probably damaging	1.00
R4874:Dll1	UTSW	17	15,590,501 (GRCm39)	missense	probably benign	0.08
R5252:Dll1	UTSW	17	15,588,951 (GRCm39)	missense	probably damaging	1.00
R6726:Dll1	UTSW	17	15,590,513 (GRCm39)	missense	probably damaging	1.00
R7180:Dll1	UTSW	17	15,595,131 (GRCm39)	missense	probably benign	0.03
R7453:Dll1	UTSW	17	15,595,151 (GRCm39)	missense	probably benign	0.18
R7542:Dll1	UTSW	17	15,590,609 (GRCm39)	missense	probably damaging	1.00
R7915:Dll1	UTSW	17	15,588,690 (GRCm39)	missense	probably damaging	0.97
R9035:Dll1	UTSW	17	15,588,959 (GRCm39)	missense	probably benign	0.00
R9417:Dll1	UTSW	17	15,593,710 (GRCm39)	missense	probably damaging	1.00
R9709:Dll1	UTSW	17	15,591,198 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCCCTGTGAAGAAAAGCAGCTTCC -3'
(R):5'- GCTTGACAGCATCCATACCACTCTC -3'

Sequencing Primer
(F):5'- TTCCTACAGTGGACACAAGGTC -3'
(R):5'- ACTCTCTCGGTTCCTAGCG -3'

Posted On

2014-02-11