Mutagenetix > Incidental Mutation

Incidental Mutation 'R4874:Dll1'

376795

Institutional Source

Beutler Lab

Gene Symbol

Dll1

Ensembl Gene

ENSMUSG00000014773

Gene Name

delta like canonical Notch ligand 1

Synonyms

Delta1

MMRRC Submission

042484-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15587616-15597134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15590501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 405 (M405K)

Ref Sequence

ENSEMBL: ENSMUSP00000014917 (fasta)

Gene Model

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

AlphaFold

Q61483

Predicted Effect

probably benign
Transcript: ENSMUST00000014917
AA Change: M405K

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000014917
Gene: ENSMUSG00000014773
AA Change: M405K

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

noncoding transcript
Transcript: ENSMUST00000140784

Predicted Effect

probably benign
Transcript: ENSMUST00000143460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181251

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (51/54)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	G	A	8: 60,969,147 (GRCm39)		probably null	Het
Adamtsl1	A	G	4: 86,260,729 (GRCm39)	N988S	possibly damaging	Het
Aph1b	A	T	9: 66,697,878 (GRCm39)		probably null	Het
B4galnt3	C	A	6: 120,184,167 (GRCm39)	R880L	probably damaging	Het
Bcam	T	C	7: 19,503,247 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,858,878 (GRCm39)	I14N	possibly damaging	Het
Dcdc5	T	C	2: 106,198,451 (GRCm39)		noncoding transcript	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ern2	T	C	7: 121,775,810 (GRCm39)	D428G	probably benign	Het
Esp36	A	T	17: 38,727,987 (GRCm39)	M98K	unknown	Het
Foxd2	G	T	4: 114,764,768 (GRCm39)	H417Q	possibly damaging	Het
Glrb	T	C	3: 80,758,349 (GRCm39)	N304D	possibly damaging	Het
Haus3	A	G	5: 34,324,972 (GRCm39)	V229A	probably benign	Het
Hpgd	A	T	8: 56,770,838 (GRCm39)	I159F	possibly damaging	Het
Ighv1-22	T	A	12: 114,710,036 (GRCm39)	I70F	probably benign	Het
Il16	A	T	7: 83,310,153 (GRCm39)	F584L	possibly damaging	Het
Lamc2	T	C	1: 153,030,141 (GRCm39)	D167G	probably null	Het
Megf10	G	A	18: 57,426,930 (GRCm39)	V1083I	probably benign	Het
Mertk	T	C	2: 128,592,079 (GRCm39)	S268P	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mki67	T	C	7: 135,310,500 (GRCm39)	D132G	probably damaging	Het
Nbas	A	G	12: 13,371,756 (GRCm39)	N419D	probably damaging	Het
Negr1	T	C	3: 156,565,082 (GRCm39)	L56S	probably damaging	Het
Nup214	A	G	2: 31,870,596 (GRCm39)		probably null	Het
Opn5	C	G	17: 42,891,610 (GRCm39)	A276P	probably damaging	Het
Or10j5	A	G	1: 172,785,166 (GRCm39)	E268G	probably benign	Het
Or2d3	C	T	7: 106,490,642 (GRCm39)	V225I	probably benign	Het
Or5t9	T	A	2: 86,659,598 (GRCm39)	H167Q	probably damaging	Het
Papln	G	T	12: 83,823,917 (GRCm39)	V499L	probably benign	Het
Pgap1	A	T	1: 54,569,296 (GRCm39)	W357R	probably damaging	Het
Pibf1	T	C	14: 99,377,992 (GRCm39)	Y373H	probably damaging	Het
Pitpnm1	T	C	19: 4,162,252 (GRCm39)		probably null	Het
Prcd	T	A	11: 116,550,597 (GRCm39)	W3R	probably null	Het
Prkaa1	A	G	15: 5,203,838 (GRCm39)	N249S	probably benign	Het
Reg3b	T	A	6: 78,349,809 (GRCm39)	N116K	possibly damaging	Het
Rpusd2	T	C	2: 118,865,360 (GRCm39)	L19P	probably benign	Het
Rufy1	T	C	11: 50,297,277 (GRCm39)	T392A	possibly damaging	Het
Sall3	T	C	18: 81,017,188 (GRCm39)	K247E	probably benign	Het
Shank1	C	T	7: 43,965,497 (GRCm39)	T191M	unknown	Het
Slit1	C	T	19: 41,717,493 (GRCm39)		probably null	Het
Sorl1	A	T	9: 41,975,048 (GRCm39)	V520E	probably damaging	Het
Vmn2r115	T	A	17: 23,578,825 (GRCm39)	F766Y	probably damaging	Het
Wdr87-ps	A	G	7: 29,235,608 (GRCm39)		noncoding transcript	Het
Zfp644	A	G	5: 106,783,279 (GRCm39)	S1032P	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
R1345:Dll1	UTSW	17	15,593,817 (GRCm39)	nonsense	probably null
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
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'- CCAGGTCATTCCTTGCATTATGAG -3'
(R):5'- CTTGAGGACAGCTTCTCTTGC -3'

Sequencing Primer
(F):5'- CCTTGCATTATGAGTATGACACC -3'
(R):5'- AGGACAGCTTCTCTTGCACCTG -3'

Posted On

2016-03-17