Mutagenetix > Incidental Mutation

Incidental Mutation 'R2894:Dcun1d2'

260704

Institutional Source

Beutler Lab

Gene Symbol

Dcun1d2

Ensembl Gene

ENSMUSG00000038506

Gene Name

defective in cullin neddylation 1 domain containing 2

Synonyms

DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)

MMRRC Submission

040482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R2894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13305963-13338126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13328649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 86 (I86N)

Ref Sequence

ENSEMBL: ENSMUSP00000106463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045366] [ENSMUST00000110838] [ENSMUST00000110839] [ENSMUST00000110840] [ENSMUST00000203467] [ENSMUST00000203604]

AlphaFold

Q8BZJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000045366
AA Change: I86N

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

SMART Domains

Protein: ENSMUSP00000047208
Gene: ENSMUSG00000038506
AA Change: I86N

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	51	1.5e-13	PFAM
Pfam:Cullin_binding	136	247	2.2e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110838
AA Change: I86N

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

SMART Domains

Protein: ENSMUSP00000106462
Gene: ENSMUSG00000038506
AA Change: I86N

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	50	9.9e-14	PFAM
PDB:4GAO\|G	62	173	3e-71	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000110839
AA Change: I86N

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

SMART Domains

Protein: ENSMUSP00000106463
Gene: ENSMUSG00000038506
AA Change: I86N

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	50	1.1e-13	PFAM
Pfam:Cullin_binding	134	206	2.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110840
AA Change: I86N

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

SMART Domains

Protein: ENSMUSP00000106464
Gene: ENSMUSG00000038506
AA Change: I86N

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	50	7.6e-14	PFAM
PDB:4GAO\|G	62	199	6e-75	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158401

Predicted Effect

probably benign
Transcript: ENSMUST00000203467
AA Change: D83E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000145399
Gene: ENSMUSG00000038506
AA Change: D83E

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	51	7.5e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203604
AA Change: I86N

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

SMART Domains

Protein: ENSMUSP00000145430
Gene: ENSMUSG00000038506
AA Change: I86N

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	51	4.7e-11	PFAM
Pfam:Cullin_binding	136	213	1.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204673

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Acox3	A	G	5: 35,757,192 (GRCm39)	I344V	probably benign	Het
Ank2	T	C	3: 127,041,892 (GRCm39)		probably null	Het
Ccl4	C	A	11: 83,554,329 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Cdk5rap2	T	C	4: 70,208,110 (GRCm39)	K779E	probably benign	Het
Cenpu	C	A	8: 47,029,384 (GRCm39)	N212K	probably damaging	Het
Dnah1	T	A	14: 31,020,718 (GRCm39)	E1217V	possibly damaging	Het
Dusp15	T	C	2: 152,791,005 (GRCm39)	I31V	probably benign	Het
Ern2	A	C	7: 121,780,810 (GRCm39)	S114A	possibly damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fmo6	C	T	1: 162,750,293 (GRCm39)	W254*	probably null	Het
Gm16494	T	C	17: 47,327,632 (GRCm39)	E84G	unknown	Het
Kdr	A	G	5: 76,107,496 (GRCm39)	F1016L	probably damaging	Het
Lrrc37a	G	A	11: 103,388,690 (GRCm39)	T2245I	unknown	Het
Mdga1	T	C	17: 30,071,478 (GRCm39)	Y381C	probably damaging	Het
Msh3	G	T	13: 92,478,868 (GRCm39)	A367D	probably benign	Het
Nadk	A	G	4: 155,671,817 (GRCm39)	N232S	possibly damaging	Het
Or51e1	A	G	7: 102,358,882 (GRCm39)	T139A	probably damaging	Het
Or7g29	A	T	9: 19,286,588 (GRCm39)	Y196*	probably null	Het
Per2	C	A	1: 91,373,325 (GRCm39)	Q154H	probably damaging	Het
Pik3ap1	G	A	19: 41,364,500 (GRCm39)	A73V	probably benign	Het
Pramel16	A	T	4: 143,675,692 (GRCm39)	M378K	probably damaging	Het
Rad18	G	A	6: 112,652,734 (GRCm39)	Q288*	probably null	Het
Rarb	T	C	14: 16,435,146 (GRCm38)	D300G	probably damaging	Het
Ruvbl1	C	T	6: 88,456,114 (GRCm39)	R63W	possibly damaging	Het
Setdb2	T	C	14: 59,663,916 (GRCm39)	N77S	probably benign	Het
Slc22a19	C	A	19: 7,670,169 (GRCm39)	K228N	probably benign	Het
Thoc6	A	G	17: 23,888,009 (GRCm39)	S292P	probably damaging	Het
Tmem126b	A	T	7: 90,120,121 (GRCm39)	S83R	probably damaging	Het
Tmem232	C	T	17: 65,757,408 (GRCm39)	E262K	probably damaging	Het
Vmn2r60	T	C	7: 41,785,220 (GRCm39)	V144A	probably benign	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vwa8	A	G	14: 79,275,578 (GRCm39)	N787S	probably damaging	Het

Other mutations in Dcun1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4519001:Dcun1d2	UTSW	8	13,311,406 (GRCm39)	missense	probably benign
R1491:Dcun1d2	UTSW	8	13,331,040 (GRCm39)	missense	probably damaging	1.00
R1582:Dcun1d2	UTSW	8	13,330,926 (GRCm39)	missense	probably damaging	1.00
R2892:Dcun1d2	UTSW	8	13,328,649 (GRCm39)	missense	probably damaging	1.00
R3913:Dcun1d2	UTSW	8	13,331,082 (GRCm39)	missense	probably damaging	0.97
R7022:Dcun1d2	UTSW	8	13,321,637 (GRCm39)	missense	probably damaging	1.00
R7395:Dcun1d2	UTSW	8	13,328,675 (GRCm39)	nonsense	probably null
R7554:Dcun1d2	UTSW	8	13,331,077 (GRCm39)	missense	probably benign	0.01
R8098:Dcun1d2	UTSW	8	13,311,396 (GRCm39)	missense	probably benign
R8679:Dcun1d2	UTSW	8	13,311,406 (GRCm39)	missense	probably benign
R9092:Dcun1d2	UTSW	8	13,307,935 (GRCm39)	missense	probably damaging	1.00
R9363:Dcun1d2	UTSW	8	13,309,014 (GRCm39)	missense	probably benign	0.01
R9437:Dcun1d2	UTSW	8	13,331,004 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TTCCCTCTGAAGAGTTTAAGTTGAG -3'
(R):5'- ACAACATCCTTTCACAAGAGTTTCC -3'

Sequencing Primer
(F):5'- GTTGAGAATAAGTCACTTACCCCAG -3'
(R):5'- CTTTCCCTAAAATCCAGAAACTTTTC -3'

Posted On

2015-01-23