Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00336:Dcun1d1'

6914

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcun1d1

Ensembl Gene

ENSMUSG00000027708

Gene Name

defective in cullin neddylation 1 domain containing 1

Synonyms

Rp42, Tes3, SCCRO, DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae), pTes3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

35946254-35991594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35970455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 130 (E130G)

Ref Sequence

ENSEMBL: ENSMUSP00000143716 (fasta)

Gene Model

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

AlphaFold

Q9QZ73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108182
AA Change: E145G

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103817
Gene: ENSMUSG00000027708
AA Change: E145G

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

possibly damaging
Transcript: ENSMUST00000148465
AA Change: E130G

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115420
Gene: ENSMUSG00000027708
AA Change: E130G

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

possibly damaging
Transcript: ENSMUST00000178098
AA Change: E130G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137324
Gene: ENSMUSG00000027708
AA Change: E130G

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

probably benign
Transcript: ENSMUST00000196270

SMART Domains

Protein: ENSMUSP00000142384
Gene: ENSMUSG00000027708

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: ENSMUST00000197489

SMART Domains

Protein: ENSMUSP00000142690
Gene: ENSMUSG00000027708

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

possibly damaging
Transcript: ENSMUST00000200661
AA Change: E130G

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143716
Gene: ENSMUSG00000027708
AA Change: E130G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198389
AA Change: E130G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143243
Gene: ENSMUSG00000027708
AA Change: E130G

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

probably benign
Transcript: ENSMUST00000197546

Predicted Effect

probably benign
Transcript: ENSMUST00000198362

Predicted Effect

probably benign
Transcript: ENSMUST00000199173

SMART Domains

Protein: ENSMUSP00000142443
Gene: ENSMUSG00000027708

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,645,366 (GRCm39)	Y417C	probably damaging	Het
Adam28	T	A	14: 68,859,569 (GRCm39)	H548L	possibly damaging	Het
Agbl3	A	T	6: 34,823,771 (GRCm39)	D812V	probably damaging	Het
Aopep	A	T	13: 63,163,237 (GRCm39)	D86V	possibly damaging	Het
Aox1	T	A	1: 58,098,203 (GRCm39)	L305Q	probably damaging	Het
Arhgef38	A	G	3: 132,837,812 (GRCm39)	V706A	probably benign	Het
Arl15	A	G	13: 114,291,288 (GRCm39)	I171V	probably benign	Het
Cacna1s	C	A	1: 136,012,011 (GRCm39)	Y237*	probably null	Het
Ccnt1	T	C	15: 98,462,990 (GRCm39)	T61A	possibly damaging	Het
Col25a1	T	A	3: 129,975,433 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,290,077 (GRCm39)		probably benign	Het
Dnah7b	G	A	1: 46,181,309 (GRCm39)	M1065I	probably benign	Het
Ephb2	T	G	4: 136,384,795 (GRCm39)	K872T	probably damaging	Het
Fga	G	A	3: 82,938,981 (GRCm39)	G452D	probably damaging	Het
Flrt1	T	A	19: 7,074,277 (GRCm39)	N90I	probably damaging	Het
Fut10	T	A	8: 31,685,319 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr137b	T	C	13: 13,549,000 (GRCm39)		probably benign	Het
Gprc5d	G	A	6: 135,093,488 (GRCm39)	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,417,476 (GRCm39)	K237R	unknown	Het
Ipo8	A	T	6: 148,684,284 (GRCm39)	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Lama1	A	T	17: 68,120,943 (GRCm39)	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,755,889 (GRCm39)	W40R	probably damaging	Het
Minar1	T	C	9: 89,485,196 (GRCm39)	D67G	probably damaging	Het
Morn2	C	A	17: 80,602,933 (GRCm39)		probably benign	Het
Ms4a6b	T	A	19: 11,506,854 (GRCm39)	N214K	possibly damaging	Het
Nags	A	T	11: 102,039,892 (GRCm39)	S527C	probably damaging	Het
Ndst1	C	T	18: 60,841,028 (GRCm39)	G218D	probably damaging	Het
Or10j5	G	A	1: 172,785,045 (GRCm39)	V228M	probably benign	Het
Or5b94	T	A	19: 12,651,924 (GRCm39)	Y118*	probably null	Het
Or8h7	C	T	2: 86,720,589 (GRCm39)	C310Y	probably benign	Het
Oxa1l	G	T	14: 54,600,802 (GRCm39)	G92*	probably null	Het
Parp16	A	T	9: 65,137,245 (GRCm39)	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,684,984 (GRCm39)	I484F	probably damaging	Het
Pex16	A	G	2: 92,209,580 (GRCm39)	R263G	probably benign	Het
Pkd1l3	G	A	8: 110,356,869 (GRCm39)	E765K	possibly damaging	Het
Plce1	T	C	19: 38,640,350 (GRCm39)	V532A	probably damaging	Het
Polq	A	G	16: 36,885,609 (GRCm39)		probably benign	Het
Pramel5	T	C	4: 143,998,191 (GRCm39)	T351A	probably damaging	Het
Prokr1	A	T	6: 87,565,593 (GRCm39)	I84N	probably damaging	Het
Prss30	A	T	17: 24,192,695 (GRCm39)	S162T	probably benign	Het
Ranbp2	A	G	10: 58,287,806 (GRCm39)	K25E	probably damaging	Het
Rapsn	A	G	2: 90,866,205 (GRCm39)	T22A	probably damaging	Het
Rhoj	G	T	12: 75,355,680 (GRCm39)	G9V	probably damaging	Het
Rnf213	A	G	11: 119,340,169 (GRCm39)	R3467G	probably benign	Het
Rreb1	C	A	13: 38,113,622 (GRCm39)	S327*	probably null	Het
Scn5a	G	A	9: 119,315,290 (GRCm39)	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,423,042 (GRCm39)		probably null	Het
Stag3	G	A	5: 138,295,921 (GRCm39)	E416K	probably benign	Het
Stpg1	T	A	4: 135,256,856 (GRCm39)	S216T	possibly damaging	Het
Tfeb	C	A	17: 48,102,589 (GRCm39)	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,087,060 (GRCm39)	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,155,877 (GRCm39)	D2234G	probably damaging	Het
Ush1c	T	G	7: 45,846,194 (GRCm39)	Q866P	probably benign	Het
Vdr	T	A	15: 97,782,735 (GRCm39)	D29V	probably damaging	Het
Vps13c	T	C	9: 67,853,224 (GRCm39)	V2439A	probably benign	Het
Xirp2	T	C	2: 67,342,942 (GRCm39)	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,441,436 (GRCm39)	S409P	probably damaging	Het

Other mutations in Dcun1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Dcun1d1	APN	3	35,975,114 (GRCm39)	splice site	probably benign
IGL03092:Dcun1d1	APN	3	35,975,141 (GRCm39)	missense	possibly damaging	0.88
IGL03214:Dcun1d1	APN	3	35,973,220 (GRCm39)	missense	probably damaging	1.00
deacon	UTSW	3	35,951,934 (GRCm39)	splice site	probably benign
Preacher	UTSW	3	35,951,940 (GRCm39)	critical splice donor site	probably null
LCD18:Dcun1d1	UTSW	3	35,992,154 (GRCm39)	unclassified	probably benign
R0575:Dcun1d1	UTSW	3	35,951,934 (GRCm39)	splice site	probably benign
R1006:Dcun1d1	UTSW	3	35,951,930 (GRCm39)	splice site	probably benign
R1820:Dcun1d1	UTSW	3	35,973,153 (GRCm39)	nonsense	probably null
R4714:Dcun1d1	UTSW	3	35,949,819 (GRCm39)	missense	probably damaging	1.00
R5849:Dcun1d1	UTSW	3	35,970,333 (GRCm39)	intron	probably benign
R6681:Dcun1d1	UTSW	3	35,949,819 (GRCm39)	missense	probably damaging	1.00
R7312:Dcun1d1	UTSW	3	35,951,940 (GRCm39)	critical splice donor site	probably null
R8344:Dcun1d1	UTSW	3	35,951,703 (GRCm39)	missense	probably benign	0.05
R9049:Dcun1d1	UTSW	3	35,951,998 (GRCm39)	missense	probably benign	0.02
R9351:Dcun1d1	UTSW	3	35,975,185 (GRCm39)	missense	probably benign
X0018:Dcun1d1	UTSW	3	35,975,293 (GRCm39)	start codon destroyed	probably null	0.99

Posted On

2012-04-20