Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01318:Dlk2'

73952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dlk2

Ensembl Gene

ENSMUSG00000047428

Gene Name

delta like non-canonical Notch ligand 2

Synonyms

Egfl9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL01318

Quality Score

Status

Chromosome

Chromosomal Location

46608347-46614197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46613390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 215 (E215G)

Ref Sequence

ENSEMBL: ENSMUSP00000058470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000061722] [ENSMUST00000095261] [ENSMUST00000166280] [ENSMUST00000166617] [ENSMUST00000167360] [ENSMUST00000170271] [ENSMUST00000171584] [ENSMUST00000188223]

AlphaFold

Q8K1E3

Predicted Effect

probably benign
Transcript: ENSMUST00000047970

SMART Domains

Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	70	89	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	286	552	5.4e-24	PFAM
AAA	626	809	5.76e-8	SMART
low complexity region	841	852	N/A	INTRINSIC
Pfam:ABC_membrane	889	1203	1.7e-33	PFAM
low complexity region	1231	1245	N/A	INTRINSIC
AAA	1281	1490	3.57e-13	SMART
low complexity region	1506	1517	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000061722
AA Change: E215G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058470
Gene: ENSMUSG00000047428
AA Change: E215G

Domain	Start	End	E-Value	Type
EGF_like	71	101	3.16e1	SMART
EGF	102	132	7.76e-3	SMART
EGF	137	172	2.14e-5	SMART
EGF	177	215	3.79e-6	SMART
EGF_CA	217	253	3.1e-11	SMART
EGF_CA	255	291	9.47e-7	SMART
transmembrane domain	349	371	N/A	INTRINSIC
low complexity region	383	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095261

SMART Domains

Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842

Domain	Start	End	E-Value	Type
transmembrane domain	29	48	N/A	INTRINSIC
transmembrane domain	58	80	N/A	INTRINSIC
transmembrane domain	93	112	N/A	INTRINSIC
transmembrane domain	127	149	N/A	INTRINSIC
Pfam:ABC_membrane	245	511	2.1e-30	PFAM
AAA	585	768	5.76e-8	SMART
low complexity region	800	811	N/A	INTRINSIC
transmembrane domain	836	858	N/A	INTRINSIC
Pfam:ABC_membrane	896	1162	6.9e-26	PFAM
low complexity region	1190	1204	N/A	INTRINSIC
AAA	1240	1424	1.67e-13	SMART
low complexity region	1440	1451	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166280
AA Change: E172G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126993
Gene: ENSMUSG00000047428
AA Change: E172G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EGF_like	28	58	3.16e1	SMART
EGF	59	89	7.76e-3	SMART
EGF	94	129	2.14e-5	SMART
EGF	134	172	3.79e-6	SMART
EGF_CA	174	210	3.1e-11	SMART
EGF_CA	212	248	9.47e-7	SMART
transmembrane domain	306	328	N/A	INTRINSIC
low complexity region	340	351	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166617
AA Change: E172G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128897
Gene: ENSMUSG00000047428
AA Change: E172G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EGF_like	28	58	3.16e1	SMART
EGF	59	89	7.76e-3	SMART
EGF	94	129	2.14e-5	SMART
EGF	134	172	3.79e-6	SMART
EGF_CA	174	210	3.1e-11	SMART
EGF_CA	212	248	9.47e-7	SMART
transmembrane domain	306	328	N/A	INTRINSIC
low complexity region	340	351	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167360

SMART Domains

Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	70	89	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	286	552	2.2e-30	PFAM
AAA	626	809	5.76e-8	SMART
low complexity region	841	852	N/A	INTRINSIC
transmembrane domain	877	899	N/A	INTRINSIC
Pfam:ABC_membrane	937	1203	7.2e-26	PFAM
low complexity region	1231	1245	N/A	INTRINSIC
AAA	1281	1465	1.67e-13	SMART
low complexity region	1481	1492	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000170271
AA Change: R146G

SMART Domains

Protein: ENSMUSP00000132349
Gene: ENSMUSG00000047428
AA Change: R146G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EGF_like	28	58	3.16e1	SMART
EGF	59	89	7.76e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171584

SMART Domains

Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	70	89	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	286	462	8.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188223

SMART Domains

Protein: ENSMUSP00000141164
Gene: ENSMUSG00000047428

Domain	Start	End	E-Value	Type
Pfam:hEGF	88	100	7.9e-4	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg10b	T	C	15: 90,112,592 (GRCm39)		probably benign	Het
Ambn	T	C	5: 88,608,554 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,297,296 (GRCm39)	D585G	probably null	Het
Chaf1a	G	T	17: 56,366,336 (GRCm39)		probably benign	Het
Ddhd1	A	G	14: 45,854,008 (GRCm39)	S443P	probably damaging	Het
Efhd2	T	C	4: 141,587,176 (GRCm39)	N202S	probably benign	Het
Gkap1	A	T	13: 58,384,853 (GRCm39)	I308K	probably damaging	Het
Gm9848	T	A	13: 113,244,774 (GRCm39)		noncoding transcript	Het
Hmcn1	G	A	1: 150,594,991 (GRCm39)	T1826I	probably damaging	Het
Htr5a	T	C	5: 28,047,742 (GRCm39)	V99A	probably benign	Het
Inha	T	G	1: 75,486,572 (GRCm39)	F289C	probably damaging	Het
Kcna3	T	C	3: 106,945,294 (GRCm39)	V519A	probably benign	Het
Kcnma1	A	T	14: 23,364,390 (GRCm39)		probably benign	Het
Kctd1	A	G	18: 15,195,747 (GRCm39)	V292A	possibly damaging	Het
Magea13	T	A	X: 57,964,829 (GRCm39)	I196N	probably damaging	Het
Map2k4	A	G	11: 65,647,089 (GRCm39)		probably benign	Het
Mfap2	G	T	4: 140,742,856 (GRCm39)	A175S	possibly damaging	Het
Milr1	G	A	11: 106,656,071 (GRCm39)	A114T	possibly damaging	Het
Mogs	G	T	6: 83,095,558 (GRCm39)	V792F	probably damaging	Het
Nt5dc3	T	A	10: 86,661,089 (GRCm39)	M418K	possibly damaging	Het
Or5b12	A	G	19: 12,897,490 (GRCm39)	L61P	probably damaging	Het
Or7d10	A	G	9: 19,832,054 (GRCm39)	E183G	probably benign	Het
Or8h8	A	T	2: 86,753,293 (GRCm39)	N194K	probably benign	Het
Osbpl10	G	A	9: 115,061,190 (GRCm39)	W756*	probably null	Het
Pgam5	A	G	5: 110,413,391 (GRCm39)	Y235H	probably damaging	Het
Pgm5	G	T	19: 24,793,842 (GRCm39)	A274E	probably damaging	Het
Prex1	C	A	2: 166,411,260 (GRCm39)		probably benign	Het
Prps1l1	A	T	12: 35,035,377 (GRCm39)	N164I	probably benign	Het
Ralbp1	C	A	17: 66,171,277 (GRCm39)	R232L	probably damaging	Het
Rnaseh2a	C	T	8: 85,691,752 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,529,200 (GRCm39)	H1819L	possibly damaging	Het
Stom	T	A	2: 35,226,889 (GRCm39)	I15F	probably benign	Het
Tasor2	A	C	13: 3,625,067 (GRCm39)	S946A	possibly damaging	Het
Tph1	T	G	7: 46,314,662 (GRCm39)	T22P	probably damaging	Het
Uqcrfs1	A	G	13: 30,724,904 (GRCm39)	I212T	probably benign	Het
Ush2a	T	C	1: 188,546,550 (GRCm39)	I3442T	probably benign	Het
Vinac1	C	A	2: 128,880,622 (GRCm39)	V435L	probably benign	Het
Vmn2r113	A	G	17: 23,177,309 (GRCm39)	I698V	probably benign	Het
Vmn2r75	T	C	7: 85,814,774 (GRCm39)	I240V	probably benign	Het
Wdr17	T	C	8: 55,125,585 (GRCm39)	T432A	probably damaging	Het

Other mutations in Dlk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03242:Dlk2	APN	17	46,613,903 (GRCm39)	missense	probably benign	0.00
R0133:Dlk2	UTSW	17	46,609,868 (GRCm39)	splice site	probably benign
R0167:Dlk2	UTSW	17	46,613,530 (GRCm39)	missense	possibly damaging	0.73
R0462:Dlk2	UTSW	17	46,614,024 (GRCm39)	makesense	probably null
R4809:Dlk2	UTSW	17	46,609,940 (GRCm39)	splice site	probably null
R6109:Dlk2	UTSW	17	46,612,623 (GRCm39)	missense	probably damaging	1.00
R6520:Dlk2	UTSW	17	46,613,438 (GRCm39)	missense	probably damaging	1.00
R7590:Dlk2	UTSW	17	46,609,609 (GRCm39)	missense	probably benign	0.02
R8222:Dlk2	UTSW	17	46,613,384 (GRCm39)	missense	probably benign
R8395:Dlk2	UTSW	17	46,611,969 (GRCm39)	missense	probably damaging	0.99
R9516:Dlk2	UTSW	17	46,613,432 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07