Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:Dcun1d1'

418411

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcun1d1

Ensembl Gene

ENSMUSG00000027708

Gene Name

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

Synonyms

SCCRO, Tes3, Rp42, pTes3

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

35892105-35937445 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35920992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 52 (Q52K)

Ref Sequence

ENSEMBL: ENSMUSP00000142384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108182] [ENSMUST00000148465] [ENSMUST00000178098] [ENSMUST00000196270] [ENSMUST00000197489] [ENSMUST00000198362] [ENSMUST00000198389] [ENSMUST00000199173] [ENSMUST00000200661]

AlphaFold

Q9QZ73

Predicted Effect

probably benign
Transcript: ENSMUST00000108182
AA Change: Q67K

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103817
Gene: ENSMUSG00000027708
AA Change: Q67K

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	50	1.6e-12	PFAM
Pfam:Cullin_binding	136	247	2.2e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148465
AA Change: Q52K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115420
Gene: ENSMUSG00000027708
AA Change: Q52K

Domain	Start	End	E-Value	Type
Pfam:UBA_4	1	35	2.5e-8	PFAM
Pfam:Cullin_binding	119	214	9.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178098
AA Change: Q52K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000137324
Gene: ENSMUSG00000027708
AA Change: Q52K

Domain	Start	End	E-Value	Type
Pfam:UBA_4	1	35	3e-8	PFAM
Pfam:Cullin_binding	119	233	6.7e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196263

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196270
AA Change: Q52K

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142384
Gene: ENSMUSG00000027708
AA Change: Q52K

Domain	Start	End	E-Value	Type
Pfam:UBA_4	1	35	8.8e-9	PFAM
PDB:3TDZ\|B	47	115	3e-44	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197489
AA Change: Q67K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142690
Gene: ENSMUSG00000027708
AA Change: Q67K

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	50	7.5e-11	PFAM
PDB:3TDZ\|B	62	89	9e-12	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000197546
AA Change: Q66K

Predicted Effect

probably benign
Transcript: ENSMUST00000198362

Predicted Effect

probably benign
Transcript: ENSMUST00000198389
AA Change: Q52K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143243
Gene: ENSMUSG00000027708
AA Change: Q52K

Domain	Start	End	E-Value	Type
Pfam:UBA_4	1	35	3e-8	PFAM
Pfam:Cullin_binding	119	233	6.7e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199173
AA Change: Q52K

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142443
Gene: ENSMUSG00000027708
AA Change: Q52K

Domain	Start	End	E-Value	Type
Pfam:UBA_4	1	35	8.8e-9	PFAM
PDB:3TDZ\|B	47	115	3e-44	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000200661
AA Change: Q52K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143716
Gene: ENSMUSG00000027708
AA Change: Q52K

Domain	Start	End	E-Value	Type
Pfam:UBA_4	1	35	5e-9	PFAM
Pfam:Cullin_binding	121	220	9.9e-31	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470	L491P	probably damaging	Het
5430419D17Rik	G	T	7: 131,201,798		probably null	Het
Abcc6	T	A	7: 45,986,470	D1051V	probably damaging	Het
Aqr	T	A	2: 114,158,943	E133V	probably benign	Het
Bag6	A	G	17: 35,145,627	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204		probably benign	Het
Clec3b	A	T	9: 123,151,035		probably benign	Het
Cnot1	T	C	8: 95,769,615		probably benign	Het
Ctsg	T	A	14: 56,099,960	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976		probably benign	Het
Ddb1	C	T	19: 10,612,945	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216		probably benign	Het
Dsel	A	G	1: 111,860,063	L914P	probably damaging	Het
Fbxo31	A	G	8: 121,560,018	F174L	probably benign	Het
Gm9116	A	G	3: 93,910,206		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529		probably benign	Het
Klf13	A	G	7: 63,891,669	F237L	probably damaging	Het
Mon2	A	T	10: 123,018,100	I962N	probably damaging	Het
Nfx1	A	G	4: 41,024,851	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647	I123F	probably damaging	Het
Pde3b	A	T	7: 114,523,348	H717L	probably damaging	Het
Polr1b	T	C	2: 129,123,129	Y712H	probably damaging	Het
Pramef25	C	A	4: 143,950,197	K112N	probably damaging	Het
Rnf157	T	A	11: 116,347,969		probably null	Het
Ros1	T	C	10: 52,098,806	E1561G	probably damaging	Het
Serpina6	A	G	12: 103,653,895		probably null	Het
St18	A	G	1: 6,768,894		probably benign	Het
Ugp2	A	G	11: 21,329,722		probably benign	Het
Vmn1r70	T	C	7: 10,634,259	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516	D161G	probably damaging	Het

Other mutations in Dcun1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Dcun1d1	APN	3	35916306	missense	possibly damaging	0.80
IGL00927:Dcun1d1	APN	3	35920965	splice site	probably benign
IGL03214:Dcun1d1	APN	3	35919071	missense	probably damaging	1.00
deacon	UTSW	3	35897785	splice site	probably benign
Preacher	UTSW	3	35897791	critical splice donor site	probably null
LCD18:Dcun1d1	UTSW	3	35938005	unclassified	probably benign
R0575:Dcun1d1	UTSW	3	35897785	splice site	probably benign
R1006:Dcun1d1	UTSW	3	35897781	splice site	probably benign
R1820:Dcun1d1	UTSW	3	35919004	nonsense	probably null
R4714:Dcun1d1	UTSW	3	35895670	missense	probably damaging	1.00
R5849:Dcun1d1	UTSW	3	35916184	intron	probably benign
R6681:Dcun1d1	UTSW	3	35895670	missense	probably damaging	1.00
R7312:Dcun1d1	UTSW	3	35897791	critical splice donor site	probably null
R8344:Dcun1d1	UTSW	3	35897554	missense	probably benign	0.05
R9049:Dcun1d1	UTSW	3	35897849	missense	probably benign	0.02
R9351:Dcun1d1	UTSW	3	35921036	missense	probably benign
X0018:Dcun1d1	UTSW	3	35921144	start codon destroyed	probably null	0.99

Posted On

2016-08-02