Mutagenetix > Incidental Mutation

Incidental Mutation 'R0379:Dlk1'

30890

Institutional Source

Beutler Lab

Gene Symbol

Dlk1

Ensembl Gene

ENSMUSG00000040856

Gene Name

delta like non-canonical Notch ligand 1

Synonyms

SCP1, pref-1, pG2, Peg9, ZOG, DlkI, FA1

MMRRC Submission

038585-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.659) question?

Stock #

R0379 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

109418749-109429262 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 109420985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056110] [ENSMUST00000109841] [ENSMUST00000109842] [ENSMUST00000109843] [ENSMUST00000109844] [ENSMUST00000109846] [ENSMUST00000124293] [ENSMUST00000173539]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056110

SMART Domains

Protein: ENSMUSP00000063104
Gene: ENSMUSG00000040856

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	55	1.43e-1	SMART
EGF	56	86	1.26e-2	SMART
EGF_CA	88	125	1.77e-6	SMART
EGF	130	168	8.71e-6	SMART
EGF	175	208	1.41e-5	SMART
EGF	213	247	4.06e-6	SMART
transmembrane domain	307	329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109841

SMART Domains

Protein: ENSMUSP00000105467
Gene: ENSMUSG00000040856

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	55	1.43e-1	SMART
EGF	56	86	1.26e-2	SMART
EGF_CA	88	125	1.77e-6	SMART
EGF	130	168	8.71e-6	SMART
EGF	175	208	1.41e-5	SMART
transmembrane domain	214	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109842

SMART Domains

Protein: ENSMUSP00000105468
Gene: ENSMUSG00000040856

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	55	1.43e-1	SMART
EGF	56	86	1.26e-2	SMART
EGF_CA	88	125	1.77e-6	SMART
EGF	130	168	8.71e-6	SMART
EGF	175	208	1.41e-5	SMART
transmembrane domain	234	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109843

SMART Domains

Protein: ENSMUSP00000105469
Gene: ENSMUSG00000040856

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	55	1.43e-1	SMART
EGF	56	86	1.26e-2	SMART
EGF_CA	88	125	1.77e-6	SMART
EGF	130	168	8.71e-6	SMART
EGF	175	208	1.41e-5	SMART
transmembrane domain	212	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109844

SMART Domains

Protein: ENSMUSP00000105470
Gene: ENSMUSG00000040856

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	55	1.43e-1	SMART
EGF	56	86	1.26e-2	SMART
EGF_CA	88	125	1.77e-6	SMART
EGF	130	168	8.71e-6	SMART
EGF	175	208	1.41e-5	SMART
EGF	213	247	4.06e-6	SMART
transmembrane domain	307	329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109846

SMART Domains

Protein: ENSMUSP00000105472
Gene: ENSMUSG00000040856

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	55	1.43e-1	SMART
EGF	56	86	1.26e-2	SMART
EGF_CA	88	125	1.77e-6	SMART
EGF	130	168	8.71e-6	SMART
EGF	175	208	1.41e-5	SMART
transmembrane domain	256	278	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124293

SMART Domains

Protein: ENSMUSP00000133530
Gene: ENSMUSG00000040856

Domain	Start	End	E-Value	Type
EGF	24	54	1.43e-1	SMART
EGF	55	85	1.26e-2	SMART
EGF_CA	87	124	1.77e-6	SMART
EGF	129	167	8.71e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173539

SMART Domains

Protein: ENSMUSP00000133430
Gene: ENSMUSG00000040856

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	25	55	1.43e-1	SMART
EGF	56	86	1.26e-2	SMART
EGF_CA	88	125	1.77e-6	SMART
EGF	130	168	8.71e-6	SMART
EGF	175	208	1.41e-5	SMART
transmembrane domain	232	254	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174539

Predicted Effect

probably benign
Transcript: ENSMUST00000173812

SMART Domains

Protein: ENSMUSP00000134308
Gene: ENSMUSG00000040856

Domain	Start	End	E-Value	Type
SCOP:d1eqga2	2	15	4e-3	SMART
transmembrane domain	44	66	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygote null mice have reduced fetal growth and 50% lethality 2 days after birth. Survivors are small but have enlarged fat pad masses. Homozygotes for another null allele have abnormal B cell development. Paternally-inherited null alleles phenocopy homozygotes due to maternal imprinting. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	G	11: 11,539,365 (GRCm39)		probably benign	Het
Apba1	A	C	19: 23,912,194 (GRCm39)	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,702,320 (GRCm39)		probably null	Het
Arsb	T	C	13: 94,077,135 (GRCm39)	S501P	probably benign	Het
Atp10b	A	G	11: 43,145,141 (GRCm39)	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898 (GRCm39)	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,789 (GRCm39)	I126T	possibly damaging	Het
Brd9	T	C	13: 74,090,802 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,430 (GRCm39)		probably benign	Het
Chd5	A	G	4: 152,467,778 (GRCm39)	K1692R	probably benign	Het
Clcn4	T	C	7: 7,299,791 (GRCm39)	T13A	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,768,440 (GRCm39)	V97A	probably benign	Het
Col24a1	G	A	3: 145,229,897 (GRCm39)	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226 (GRCm39)	V82D	probably damaging	Het
Ctnna2	T	A	6: 77,618,423 (GRCm39)	T180S	probably benign	Het
Cybrd1	T	C	2: 70,960,099 (GRCm39)	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,478,671 (GRCm39)	V468M	probably damaging	Het
Dnaaf9	C	T	2: 130,627,466 (GRCm39)		probably benign	Het
Dnah7b	A	T	1: 46,179,336 (GRCm39)	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,722,399 (GRCm39)	E376A	possibly damaging	Het
Etl4	T	A	2: 20,812,165 (GRCm39)	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106 (GRCm39)	T238A	probably benign	Het
Fer1l6	A	G	15: 58,420,187 (GRCm39)	I33M	probably benign	Het
Fndc3a	A	G	14: 72,794,049 (GRCm39)	S830P	probably damaging	Het
Fras1	C	T	5: 96,903,368 (GRCm39)	R3082*	probably null	Het
Galnt13	T	C	2: 54,950,504 (GRCm39)	V395A	possibly damaging	Het
Gpd2	C	T	2: 57,235,275 (GRCm39)	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,235,759 (GRCm39)		probably benign	Het
Ints5	G	T	19: 8,874,497 (GRCm39)	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,669 (GRCm39)	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,566 (GRCm39)	A67T	probably benign	Het
Lrp1	T	G	10: 127,430,838 (GRCm39)	T404P	probably damaging	Het
Marchf7	T	C	2: 60,064,470 (GRCm39)	S249P	probably benign	Het
Mcm10	T	A	2: 5,013,434 (GRCm39)	K66M	probably benign	Het
Mtmr7	C	A	8: 41,004,642 (GRCm39)	D645Y	probably damaging	Het
Muc6	T	A	7: 141,216,868 (GRCm39)	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,260,121 (GRCm39)		probably benign	Het
Myo18a	G	A	11: 77,741,632 (GRCm39)	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,406,695 (GRCm39)	L957S	probably damaging	Het
Ncoa3	T	C	2: 165,896,422 (GRCm39)	S442P	probably damaging	Het
Or5t5	G	A	2: 86,616,079 (GRCm39)	E2K	probably benign	Het
Or6x1	G	A	9: 40,098,729 (GRCm39)	G106D	probably damaging	Het
Or7g32	T	A	9: 19,388,776 (GRCm39)	T257S	possibly damaging	Het
Pdcd6	G	T	13: 74,457,831 (GRCm39)	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 108,856,810 (GRCm39)		probably benign	Het
Pfkm	A	G	15: 98,024,195 (GRCm39)	H401R	probably benign	Het
Phldb2	C	A	16: 45,601,814 (GRCm39)	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,902,195 (GRCm39)	M49K	probably damaging	Het
Polrmt	A	G	10: 79,573,445 (GRCm39)	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 35,035,077 (GRCm39)	N64S	probably benign	Het
Prss3l	T	G	6: 41,422,190 (GRCm39)		probably benign	Het
Psg16	T	C	7: 16,864,583 (GRCm39)	S393P	probably benign	Het
Rundc1	C	T	11: 101,315,973 (GRCm39)	T15I	probably benign	Het
Scaf11	A	G	15: 96,329,697 (GRCm39)	L143S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpinf1	T	G	11: 75,304,771 (GRCm39)	I197L	probably benign	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Slc28a1	G	A	7: 80,787,925 (GRCm39)	V271I	probably benign	Het
Sntg1	T	C	1: 8,853,048 (GRCm39)	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,059,161 (GRCm39)		probably benign	Het
Suclg1	T	C	6: 73,233,211 (GRCm39)	I51T	possibly damaging	Het
Syne1	C	T	10: 5,491,989 (GRCm39)	R9Q	probably damaging	Het
Trim47	T	A	11: 115,997,344 (GRCm39)	H470L	probably damaging	Het
Ttc41	T	A	10: 86,548,841 (GRCm39)	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 139,612,105 (GRCm39)	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,691,116 (GRCm39)	T474M	probably damaging	Het
Ubr5	A	T	15: 38,019,201 (GRCm39)	N777K	probably benign	Het
Ush2a	T	C	1: 188,184,016 (GRCm39)	L1440P	probably damaging	Het
Usp28	A	C	9: 48,935,367 (GRCm39)	D458A	possibly damaging	Het
Vcan	A	T	13: 89,851,665 (GRCm39)	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,490,773 (GRCm39)	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,434,344 (GRCm39)	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,948,401 (GRCm39)	I549N	probably damaging	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	Het
Zfp974	T	A	7: 27,610,357 (GRCm39)	N456I	probably damaging	Het

Other mutations in Dlk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0041:Dlk1	UTSW	12	109,421,439 (GRCm39)	missense	probably damaging	1.00
R1250:Dlk1	UTSW	12	109,425,744 (GRCm39)	missense	probably damaging	1.00
R1363:Dlk1	UTSW	12	109,421,430 (GRCm39)	missense	probably damaging	1.00
R1757:Dlk1	UTSW	12	109,425,613 (GRCm39)	missense	probably damaging	1.00
R1763:Dlk1	UTSW	12	109,424,045 (GRCm39)	missense	probably damaging	1.00
R1772:Dlk1	UTSW	12	109,425,685 (GRCm39)	missense	probably damaging	1.00
R2189:Dlk1	UTSW	12	109,420,975 (GRCm39)	critical splice donor site	probably null
R2334:Dlk1	UTSW	12	109,419,614 (GRCm39)	missense	probably damaging	0.96
R3751:Dlk1	UTSW	12	109,426,239 (GRCm39)	missense	probably benign	0.15
R5256:Dlk1	UTSW	12	109,425,697 (GRCm39)	missense	probably damaging	1.00
R5268:Dlk1	UTSW	12	109,425,764 (GRCm39)	missense	probably benign	0.34
R5356:Dlk1	UTSW	12	109,421,447 (GRCm39)	missense	probably damaging	0.99
R5669:Dlk1	UTSW	12	109,425,964 (GRCm39)	missense	probably benign	0.04
R5748:Dlk1	UTSW	12	109,425,898 (GRCm39)	missense	probably benign	0.00
R5992:Dlk1	UTSW	12	109,421,507 (GRCm39)	missense	probably damaging	1.00
R6076:Dlk1	UTSW	12	109,425,895 (GRCm39)	missense	probably damaging	0.98
R6539:Dlk1	UTSW	12	109,426,245 (GRCm39)	missense	probably benign	0.01
R6638:Dlk1	UTSW	12	109,426,204 (GRCm39)	missense	probably damaging	1.00
R7480:Dlk1	UTSW	12	109,421,540 (GRCm39)	missense	probably damaging	1.00
R7553:Dlk1	UTSW	12	109,420,889 (GRCm39)	missense	unknown
R7602:Dlk1	UTSW	12	109,421,551 (GRCm39)	critical splice donor site	probably null
R8531:Dlk1	UTSW	12	109,424,066 (GRCm39)	missense	probably null	0.06
R9120:Dlk1	UTSW	12	109,424,051 (GRCm39)	missense	probably benign	0.00
R9554:Dlk1	UTSW	12	109,420,889 (GRCm39)	missense	unknown
X0020:Dlk1	UTSW	12	109,425,838 (GRCm39)	missense	probably damaging	1.00
X0053:Dlk1	UTSW	12	109,426,063 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAAAGGTGTCTGCTTTGCACTTG -3'
(R):5'- TACAGTGATCTACAGTGGCCTCCC -3'

Sequencing Primer
(F):5'- AGAAATGCCTACTGTGTGCC -3'
(R):5'- CTGCAAGACACTCTTCTGAtcc -3'

Posted On

2013-04-24