Mutagenetix > Incidental Mutation

Incidental Mutation 'R6109:Dlk2'

484750

Institutional Source

Beutler Lab

Gene Symbol

Dlk2

Ensembl Gene

ENSMUSG00000047428

Gene Name

delta like non-canonical Notch ligand 2

Synonyms

Egfl9

MMRRC Submission

044259-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R6109 (G1)

Quality Score

147.008

Status

Validated

Chromosome

Chromosomal Location

46608347-46614197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46612623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 109 (Y109N)

Ref Sequence

ENSEMBL: ENSMUSP00000132349 (fasta)

Gene Model

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

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: Y152N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058470
Gene: ENSMUSG00000047428
AA Change: Y152N

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: Y109N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126993
Gene: ENSMUSG00000047428
AA Change: Y109N

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: Y109N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128897
Gene: ENSMUSG00000047428
AA Change: Y109N

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

probably damaging
Transcript: ENSMUST00000170271
AA Change: Y109N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132349
Gene: ENSMUSG00000047428
AA Change: Y109N

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: ENSMUST00000188223

SMART Domains

Protein: ENSMUSP00000141164
Gene: ENSMUSG00000047428

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

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

Meta Mutation Damage Score

0.1078

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,303 (GRCm39)	Y950C	probably benign	Het
Acadm	A	G	3: 153,647,580 (GRCm39)	C20R	probably damaging	Het
Agtpbp1	G	T	13: 59,621,560 (GRCm39)	T984K	probably damaging	Het
Agxt2	C	T	15: 10,377,508 (GRCm39)	T136I	probably damaging	Het
Ankrd36	C	A	11: 5,578,941 (GRCm39)	N68K	probably damaging	Het
Ap3b2	T	A	7: 81,143,340 (GRCm39)	D10V	possibly damaging	Het
Apcdd1	A	T	18: 63,070,437 (GRCm39)	I235F	probably damaging	Het
Arhgap32	T	A	9: 32,171,407 (GRCm39)	W1396R	probably damaging	Het
Ascc3	A	G	10: 50,525,343 (GRCm39)	T513A	probably benign	Het
Aym1	C	T	5: 113,505,407 (GRCm39)	L9F	unknown	Het
Btnl10	C	A	11: 58,811,130 (GRCm39)	S151Y	probably damaging	Het
Camk2a	A	T	18: 61,076,306 (GRCm39)	K95*	probably null	Het
Ccdc40	T	C	11: 119,122,804 (GRCm39)	V202A	probably benign	Het
Cd200r3	T	A	16: 44,774,045 (GRCm39)	D152E	probably benign	Het
Cd2bp2	C	T	7: 126,793,987 (GRCm39)	D101N	probably damaging	Het
Cdh20	G	A	1: 104,921,739 (GRCm39)	D679N	probably damaging	Het
Clpx	C	T	9: 65,207,234 (GRCm39)	T44I	probably benign	Het
Cnnm4	T	G	1: 36,537,560 (GRCm39)	V541G	probably damaging	Het
Csmd1	T	C	8: 16,249,874 (GRCm39)	I1035V	possibly damaging	Het
Ctsw	T	C	19: 5,517,147 (GRCm39)	S62G	probably benign	Het
Ebf3	C	T	7: 136,807,955 (GRCm39)	V363M	probably damaging	Het
Farsb	A	G	1: 78,439,907 (GRCm39)		probably null	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxl3	C	A	5: 138,805,850 (GRCm39)	Q6K	probably damaging	Het
Gk5	C	A	9: 96,022,663 (GRCm39)	F166L	probably benign	Het
Gm11271	G	T	13: 21,565,309 (GRCm39)		noncoding transcript	Het
Gnat2	T	A	3: 108,007,451 (GRCm39)	Y290N	probably damaging	Het
H2-D1	A	T	17: 35,482,913 (GRCm39)	I148F	probably damaging	Het
Hdac2	A	G	10: 36,862,385 (GRCm39)	D83G	probably null	Het
Kdm5d	T	C	Y: 921,501 (GRCm39)	W500R	probably damaging	Het
Kel	A	T	6: 41,665,796 (GRCm39)	F489I	probably benign	Het
Kmo	C	A	1: 175,465,474 (GRCm39)	A76E	possibly damaging	Het
Krt32	T	C	11: 99,978,791 (GRCm39)	T88A	probably benign	Het
Lce3b	A	G	3: 92,840,994 (GRCm39)	T30A	unknown	Het
Lcn11	A	G	2: 25,669,308 (GRCm39)	H155R	possibly damaging	Het
Lmln	T	A	16: 32,889,481 (GRCm39)	I129N	possibly damaging	Het
Meiob	A	G	17: 25,031,993 (GRCm39)	K3E	probably benign	Het
Mitf	C	T	6: 97,973,429 (GRCm39)	T229M	probably damaging	Het
Ms4a20	T	C	19: 11,079,276 (GRCm39)	M131V	possibly damaging	Het
Muc16	T	C	9: 18,566,655 (GRCm39)	I1955V	unknown	Het
Naip1	A	G	13: 100,563,690 (GRCm39)	C492R	probably damaging	Het
Ncor2	C	T	5: 125,132,910 (GRCm39)	A26T	probably damaging	Het
Ngfr	T	G	11: 95,468,883 (GRCm39)	D165A	probably damaging	Het
Nobox	A	T	6: 43,282,103 (GRCm39)	S323R	probably damaging	Het
Or51ac3	T	C	7: 103,214,346 (GRCm39)	I47V	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or8g23	A	G	9: 38,971,492 (GRCm39)	S157P	probably benign	Het
Pcdhb1	G	T	18: 37,398,306 (GRCm39)	V86F	possibly damaging	Het
Pdk1	A	G	2: 71,713,850 (GRCm39)	E165G	probably benign	Het
Peak1	C	T	9: 56,166,567 (GRCm39)	V454I	probably benign	Het
Rad9b	C	T	5: 122,482,360 (GRCm39)	G125D	probably damaging	Het
S100a16	T	C	3: 90,449,381 (GRCm39)	F19L	probably damaging	Het
Serpine2	T	C	1: 79,788,388 (GRCm39)	K190E	probably damaging	Het
Slf1	A	T	13: 77,274,799 (GRCm39)	M12K	probably damaging	Het
Tex101	T	C	7: 24,367,738 (GRCm39)	T205A	possibly damaging	Het
Tssk5	T	C	15: 76,257,916 (GRCm39)	E147G	probably damaging	Het
Ubr4	A	G	4: 139,144,675 (GRCm39)	T1495A	probably damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Wdr70	A	T	15: 8,108,638 (GRCm39)		probably null	Het
Zfp811	T	A	17: 33,016,348 (GRCm39)		probably null	Het
Zscan10	T	A	17: 23,826,103 (GRCm39)	F88L	probably damaging	Het

Other mutations in Dlk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Dlk2	APN	17	46,613,390 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGGGTTCCCAAGCTACTG -3'
(R):5'- TATGAAGCAGGCACGCTGTC -3'

Sequencing Primer
(F):5'- TTCCCAAGCTACTGGCCAG -3'
(R):5'- TCTAGCTTCCCCAGAGTC -3'

Posted On

2017-08-16