Mutagenetix > Incidental Mutations

Incidental Mutation 'R6224:Dcun1d3'

504194

Institutional Source

Beutler Lab

Gene Symbol

Dcun1d3

Ensembl Gene

ENSMUSG00000048787

Gene Name

DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)

Synonyms

MMRRC Submission

044355-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R6224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119852796-119896298 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 119859491 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 107 (L107*)

Ref Sequence

ENSEMBL: ENSMUSP00000147253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059851] [ENSMUST00000098080] [ENSMUST00000106519] [ENSMUST00000137888] [ENSMUST00000142120] [ENSMUST00000207233]

Predicted Effect

probably null
Transcript: ENSMUST00000059851
AA Change: L107*

SMART Domains

Protein: ENSMUSP00000058968
Gene: ENSMUSG00000048787
AA Change: L107*

Domain	Start	End	E-Value	Type
Pfam:Cullin_binding	161	277	6.5e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098080
AA Change: L107*

SMART Domains

Protein: ENSMUSP00000095686
Gene: ENSMUSG00000048787
AA Change: L107*

Domain	Start	End	E-Value	Type
Pfam:Cullin_binding	159	278	1.8e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106519
AA Change: L107*

SMART Domains

Protein: ENSMUSP00000102129
Gene: ENSMUSG00000048787
AA Change: L107*

Domain	Start	End	E-Value	Type
Pfam:Cullin_binding	159	278	1.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137888

Predicted Effect

probably null
Transcript: ENSMUST00000142120
AA Change: L107*

SMART Domains

Protein: ENSMUSP00000118439
Gene: ENSMUSG00000048787
AA Change: L107*

Domain	Start	End	E-Value	Type
PDB:4GBA\|B	86	165	8e-53	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000207233
AA Change: L107*

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	C	11: 99,838,014	M1R	probably null	Het
4930505A04Rik	A	C	11: 30,454,815	N29K	probably benign	Het
Adamtsl4	T	C	3: 95,681,729	Y464C	probably damaging	Het
Asgr2	T	C	11: 70,098,246	V172A	probably damaging	Het
Atad1	T	C	19: 32,698,628	Y132C	probably damaging	Het
Bpifa6	G	A	2: 153,987,153	R200H	probably damaging	Het
Brd1	A	T	15: 88,688,355	M1171K	possibly damaging	Het
Cadm2	A	T	16: 66,664,395	L392Q	probably damaging	Het
Ccdc183	C	T	2: 25,610,582	E333K	possibly damaging	Het
Cenpe	T	C	3: 135,243,775	I1335T	possibly damaging	Het
Cpxm2	T	C	7: 132,143,731	N122D	probably benign	Het
Crls1	T	A	2: 132,849,850		probably null	Het
Cyp46a1	T	C	12: 108,361,560	F460S	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dcps	T	A	9: 35,136,481	T128S	probably benign	Het
Eml1	T	C	12: 108,514,508	F397S	probably damaging	Het
Fanca	T	A	8: 123,305,281	H348L	possibly damaging	Het
Foxo1	T	A	3: 52,345,672	S419T	probably benign	Het
Gli3	T	C	13: 15,725,145	V1039A	probably benign	Het
Gm5741	A	T	8: 85,067,591	*73R	probably null	Het
Gp6	A	T	7: 4,394,212	F75I	probably benign	Het
Gpha2	T	A	19: 6,227,112	I81N	possibly damaging	Het
Gspt1	C	A	16: 11,224,542	V493L	probably benign	Het
Igsf10	C	A	3: 59,325,510	C1934F	probably damaging	Het
Irgm1	T	C	11: 48,866,886	T49A	probably benign	Het
Klc4	A	G	17: 46,640,062	I207T	possibly damaging	Het
Krt1	A	T	15: 101,850,267	V154D	possibly damaging	Het
Lama1	T	C	17: 67,802,987	V2201A	possibly damaging	Het
Lilrb4a	T	A	10: 51,491,649	Y96N	probably damaging	Het
Lrfn2	A	G	17: 49,096,351	T501A	probably damaging	Het
Lrriq1	A	G	10: 103,215,757	I378T	probably damaging	Het
Mphosph8	T	C	14: 56,668,353	M1T	probably null	Het
Nsd1	T	C	13: 55,313,132	S2391P	possibly damaging	Het
Ogdhl	G	A	14: 32,342,061	G647D	probably benign	Het
Olfr480	T	C	7: 108,066,742	I19V	probably benign	Het
Olfr813	A	G	10: 129,857,192	K225E	probably benign	Het
Pbrm1	T	A	14: 31,050,111	H387Q	probably benign	Het
Pdgfrb	C	A	18: 61,081,939	Y1013*	probably null	Het
Pitrm1	T	C	13: 6,565,054	V562A	probably damaging	Het
Pnpla8	T	C	12: 44,283,028	V121A	possibly damaging	Het
Psd4	T	C	2: 24,401,557	L639P	probably damaging	Het
Psmc3	G	T	2: 91,054,630	R47L	probably damaging	Het
Rptn	C	G	3: 93,398,130	H923Q	possibly damaging	Het
Sesn2	A	G	4: 132,502,570	V50A	probably benign	Het
Slc6a16	G	A	7: 45,261,148	G377S	probably damaging	Het
Slitrk1	A	G	14: 108,912,022	F419S	probably damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,679,816		probably benign	Het
Spata31d1a	T	A	13: 59,706,320		probably benign	Homo
Tgoln1	A	T	6: 72,616,001	D165E	possibly damaging	Het
Tmprss15	T	A	16: 79,024,378	T492S	probably benign	Het
Ttc37	C	T	13: 76,118,291	T219M	probably benign	Het
Zc3h13	T	A	14: 75,337,409	M1565K	probably damaging	Het
Zcwpw1	T	C	5: 137,812,036	V358A	possibly damaging	Het
Zfp607a	A	G	7: 27,878,582	H359R	probably damaging	Het
Zzef1	T	A	11: 72,855,383	V837E	probably damaging	Het

Other mutations in Dcun1d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0432:Dcun1d3	UTSW	7	119857950	nonsense	probably null
R1219:Dcun1d3	UTSW	7	119859408	missense	probably damaging	0.99
R1344:Dcun1d3	UTSW	7	119857935	missense	probably damaging	1.00
R1418:Dcun1d3	UTSW	7	119857935	missense	probably damaging	1.00
R4115:Dcun1d3	UTSW	7	119859734	missense	probably benign
R4654:Dcun1d3	UTSW	7	119859519	missense	probably damaging	1.00
R4784:Dcun1d3	UTSW	7	119857664	missense	probably damaging	1.00
R5112:Dcun1d3	UTSW	7	119858027	missense	probably damaging	0.98
R5732:Dcun1d3	UTSW	7	119858033	missense	probably benign	0.06
R5935:Dcun1d3	UTSW	7	119859576	missense	probably benign
R6037:Dcun1d3	UTSW	7	119857742	missense	probably damaging	1.00
R6037:Dcun1d3	UTSW	7	119857742	missense	probably damaging	1.00
R7289:Dcun1d3	UTSW	7	119859641	missense	possibly damaging	0.56
R7311:Dcun1d3	UTSW	7	119859511	missense	probably damaging	0.96
R7658:Dcun1d3	UTSW	7	119857668	missense	probably damaging	1.00
RF007:Dcun1d3	UTSW	7	119859503	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CTTGATAACTGAAGCCATCCCAG -3'
(R):5'- AACCAGCTGGGGATATTCTTG -3'

Sequencing Primer
(F):5'- ATCCTAGTTGGTACCACTATCCAGTG -3'
(R):5'- GGATATTCTTGTCAATGGGACCAAG -3'

Posted On

2018-02-28