Mutagenetix > Incidental Mutation

Incidental Mutation 'R1582:Dcun1d2'

171475

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

039619-MU

Accession Numbers

Essential gene?

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

Stock #

R1582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13305963-13338126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13330926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 68 (L68P)

Ref Sequence

ENSEMBL: ENSMUSP00000145430 (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: L68P

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

SMART Domains

Protein: ENSMUSP00000047208
Gene: ENSMUSG00000038506
AA Change: L68P

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: L68P

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

SMART Domains

Protein: ENSMUSP00000106462
Gene: ENSMUSG00000038506
AA Change: L68P

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: L68P

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

SMART Domains

Protein: ENSMUSP00000106463
Gene: ENSMUSG00000038506
AA Change: L68P

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: L68P

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

SMART Domains

Protein: ENSMUSP00000106464
Gene: ENSMUSG00000038506
AA Change: L68P

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 damaging
Transcript: ENSMUST00000203467
AA Change: L68P

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

SMART Domains

Protein: ENSMUSP00000145399
Gene: ENSMUSG00000038506
AA Change: L68P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203604
AA Change: L68P

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

SMART Domains

Protein: ENSMUSP00000145430
Gene: ENSMUSG00000038506
AA Change: L68P

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: ENSMUST00000203963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204673

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	G	2: 31,690,371 (GRCm39)	A630G	probably damaging	Het
Actr3	A	G	1: 125,333,662 (GRCm39)	Y202H	probably benign	Het
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Atl3	A	G	19: 7,494,264 (GRCm39)	T138A	probably damaging	Het
Bpifa2	T	C	2: 153,855,638 (GRCm39)	S188P	probably damaging	Het
Bsn	T	C	9: 107,982,291 (GRCm39)	T3821A	unknown	Het
Ddhd1	A	T	14: 45,842,566 (GRCm39)	L630I	probably damaging	Het
Ddx25	T	C	9: 35,457,272 (GRCm39)	T348A	probably damaging	Het
Dtnb	C	T	12: 3,823,554 (GRCm39)	T580M	possibly damaging	Het
Dysf	A	G	6: 84,074,749 (GRCm39)	S561G	probably damaging	Het
Ehbp1l1	A	G	19: 5,771,995 (GRCm39)	I101T	possibly damaging	Het
Erich3	T	C	3: 154,469,960 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	T	C	1: 24,068,398 (GRCm39)	T611A	probably damaging	Het
Gpbp1	T	C	13: 111,573,066 (GRCm39)		probably null	Het
H2-Oa	A	T	17: 34,313,695 (GRCm39)	T218S	probably damaging	Het
Kctd19	G	A	8: 106,122,092 (GRCm39)	L152F	probably damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Kif13a	A	G	13: 46,947,398 (GRCm39)	V862A	probably benign	Het
Lct	T	C	1: 128,228,299 (GRCm39)	T1065A	probably damaging	Het
Mark3	G	A	12: 111,621,744 (GRCm39)	A697T	probably benign	Het
Mosmo	A	G	7: 120,329,728 (GRCm39)	I116M	possibly damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc15	A	T	2: 110,567,817 (GRCm39)	M321L	probably benign	Het
Naa25	T	A	5: 121,572,892 (GRCm39)	N670K	probably benign	Het
Or1e1c	T	A	11: 73,266,090 (GRCm39)	C172S	probably damaging	Het
Or5e1	G	T	7: 108,354,317 (GRCm39)	V85L	probably benign	Het
Or6z3	A	G	7: 6,463,813 (GRCm39)	M102V	probably benign	Het
Ppara	T	C	15: 85,682,429 (GRCm39)	I375T	possibly damaging	Het
Prss27	A	G	17: 24,263,877 (GRCm39)	I188V	probably benign	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Relt	C	T	7: 100,500,560 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Smarca2	G	A	19: 26,729,305 (GRCm39)	D19N	probably damaging	Het
Sorbs2	G	A	8: 46,258,814 (GRCm39)	G620D	probably damaging	Het
Spata31d1c	C	A	13: 65,181,038 (GRCm39)	Q46K	probably benign	Het
Spata6	C	G	4: 111,637,992 (GRCm39)	S274*	probably null	Het
Spata6	C	T	4: 111,637,994 (GRCm39)	P275S	probably benign	Het
Tas2r108	T	A	6: 40,470,566 (GRCm39)	V14D	probably benign	Het
Thbs2	G	T	17: 14,891,550 (GRCm39)	P996T	probably damaging	Het
Tmem131l	T	C	3: 83,839,090 (GRCm39)	Q620R	probably damaging	Het
Ubap2l	A	G	3: 89,941,978 (GRCm39)	S203P	probably damaging	Het
Unc45b	G	A	11: 82,816,771 (GRCm39)	G404S	probably benign	Het
Uri1	A	G	7: 37,664,811 (GRCm39)	S292P	possibly damaging	Het
Usp21	A	T	1: 171,110,655 (GRCm39)	C444S	probably damaging	Het
Vmn1r117	A	T	7: 20,617,484 (GRCm39)	V188D	possibly damaging	Het
Vmn1r7	T	C	6: 57,002,143 (GRCm39)	D39G	probably damaging	Het
Wdr25	T	C	12: 108,863,980 (GRCm39)	F42L	possibly 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
R2892:Dcun1d2	UTSW	8	13,328,649 (GRCm39)	missense	probably damaging	1.00
R2894: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'- TCAGGCAACAGCTCACTCGTTATC -3'
(R):5'- AGCAAACATGGCTTCATTGGCTTTC -3'

Sequencing Primer
(F):5'- AGCTCACTCGTTATCAGTCTTTTG -3'
(R):5'- CTCAGAAGGACAAGGTCCGC -3'

Posted On

2014-04-13