Mutagenetix > Incidental Mutation

Incidental Mutation 'R6037:Dcun1d3'

479261

Institutional Source

Beutler Lab

Gene Symbol

Dcun1d3

Ensembl Gene

ENSMUSG00000048787

Gene Name

defective in cullin neddylation 1 domain containing 3

Synonyms

DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae), 1700020A13Rik

MMRRC Submission

043258-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119452381-119495553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119456965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 249 (F249S)

Ref Sequence

ENSEMBL: ENSMUSP00000147253 (fasta)

Gene Model

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

AlphaFold

Q8K0V2

Predicted Effect

probably damaging
Transcript: ENSMUST00000059851
AA Change: F249S

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

SMART Domains

Protein: ENSMUSP00000058968
Gene: ENSMUSG00000048787
AA Change: F249S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098080
AA Change: F249S

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

SMART Domains

Protein: ENSMUSP00000095686
Gene: ENSMUSG00000048787
AA Change: F249S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106519
AA Change: F249S

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

SMART Domains

Protein: ENSMUSP00000102129
Gene: ENSMUSG00000048787
AA Change: F249S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137888

Predicted Effect

probably benign
Transcript: ENSMUST00000142120

SMART Domains

Protein: ENSMUSP00000118439
Gene: ENSMUSG00000048787

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207233
AA Change: F249S

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

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.4%
20x: 72.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abi2	C	A	1: 60,503,738 (GRCm39)	P212T	probably damaging	Het
Ano4	A	G	10: 89,153,108 (GRCm39)	F68S	possibly damaging	Het
Art5	C	A	7: 101,747,591 (GRCm39)	A63S	probably benign	Het
Asgr1	T	A	11: 69,947,247 (GRCm39)	S96R	probably benign	Het
Bdp1	A	T	13: 100,163,957 (GRCm39)	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 135,998,705 (GRCm39)	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,390,738 (GRCm39)	K357E	probably damaging	Het
Cdhr18	T	C	14: 13,864,282 (GRCm38)	N348S	probably damaging	Het
Cfap52	C	T	11: 67,837,126 (GRCm39)	G212R	probably benign	Het
Ece2	A	G	16: 20,449,112 (GRCm39)	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,871,760 (GRCm39)	T425I	probably damaging	Het
Eprs1	A	G	1: 185,128,306 (GRCm39)	E562G	probably damaging	Het
Fbn2	T	C	18: 58,177,295 (GRCm39)	T2001A	probably benign	Het
Flt4	G	A	11: 49,527,867 (GRCm39)	R940H	probably damaging	Het
Fry	T	A	5: 150,351,644 (GRCm39)	M1716K	probably benign	Het
Gm10684	T	A	9: 45,019,039 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,311,416 (GRCm39)	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Il23r	C	T	6: 67,455,938 (GRCm39)	V177M	probably damaging	Het
Klf12	T	C	14: 100,137,650 (GRCm39)	S299G	probably benign	Het
Lama5	G	A	2: 179,848,806 (GRCm39)	R265C	probably damaging	Het
Lifr	A	G	15: 7,216,424 (GRCm39)	T800A	probably damaging	Het
Megf8	T	C	7: 25,063,831 (GRCm39)	L2729P	probably damaging	Het
Mki67	A	C	7: 135,298,532 (GRCm39)	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,534,032 (GRCm39)	K400E	probably damaging	Het
Nomo1	T	A	7: 45,712,423 (GRCm39)	I656N	possibly damaging	Het
Oas3	T	C	5: 120,907,384 (GRCm39)	T418A	probably benign	Het
Olr1	A	G	6: 129,470,504 (GRCm39)	L221P	probably damaging	Het
Or14c44	C	T	7: 86,062,478 (GRCm39)	L303F	probably benign	Het
Or5m9	T	C	2: 85,876,928 (GRCm39)	M34T	probably benign	Het
Or8b3	T	A	9: 38,314,601 (GRCm39)	C144S	probably benign	Het
Or8g22	A	G	9: 38,958,403 (GRCm39)	V104A	probably damaging	Het
Or8k28	T	A	2: 86,286,133 (GRCm39)	I161L	probably benign	Het
Pih1d1	C	T	7: 44,805,738 (GRCm39)	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,703,967 (GRCm39)	S656R	probably damaging	Het
Polr3f	A	G	2: 144,377,943 (GRCm39)	D171G	probably damaging	Het
Rasal1	T	C	5: 120,787,566 (GRCm39)	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,063,595 (GRCm39)	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,502,240 (GRCm39)	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,066,499 (GRCm39)	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 63,989,150 (GRCm39)	Q30K	probably benign	Het
Vmn2r125	C	A	4: 156,703,396 (GRCm39)	A258D	probably benign	Het
Wipf2	C	T	11: 98,787,005 (GRCm39)	P345S	probably benign	Het
Zeb2	G	T	2: 44,878,652 (GRCm39)	S1170*	probably null	Het
Zfp947	A	G	17: 22,366,415 (GRCm39)	Y38H	probably damaging	Het

Other mutations in Dcun1d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0432:Dcun1d3	UTSW	7	119,457,173 (GRCm39)	nonsense	probably null
R1219:Dcun1d3	UTSW	7	119,458,631 (GRCm39)	missense	probably damaging	0.99
R1344:Dcun1d3	UTSW	7	119,457,158 (GRCm39)	missense	probably damaging	1.00
R1418:Dcun1d3	UTSW	7	119,457,158 (GRCm39)	missense	probably damaging	1.00
R4115:Dcun1d3	UTSW	7	119,458,957 (GRCm39)	missense	probably benign
R4654:Dcun1d3	UTSW	7	119,458,742 (GRCm39)	missense	probably damaging	1.00
R4784:Dcun1d3	UTSW	7	119,456,887 (GRCm39)	missense	probably damaging	1.00
R5112:Dcun1d3	UTSW	7	119,457,250 (GRCm39)	missense	probably damaging	0.98
R5732:Dcun1d3	UTSW	7	119,457,256 (GRCm39)	missense	probably benign	0.06
R5935:Dcun1d3	UTSW	7	119,458,799 (GRCm39)	missense	probably benign
R6037:Dcun1d3	UTSW	7	119,456,965 (GRCm39)	missense	probably damaging	1.00
R6224:Dcun1d3	UTSW	7	119,458,714 (GRCm39)	nonsense	probably null
R7289:Dcun1d3	UTSW	7	119,458,864 (GRCm39)	missense	possibly damaging	0.56
R7311:Dcun1d3	UTSW	7	119,458,734 (GRCm39)	missense	probably damaging	0.96
R7658:Dcun1d3	UTSW	7	119,456,891 (GRCm39)	missense	probably damaging	1.00
R9259:Dcun1d3	UTSW	7	119,457,052 (GRCm39)	missense	probably benign	0.20
RF007:Dcun1d3	UTSW	7	119,458,726 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

Posted On

2017-06-26