Mutagenetix > Incidental Mutation

Incidental Mutation 'R4842:Cand1'

374462

Institutional Source

Beutler Lab

Gene Symbol

Cand1

Ensembl Gene

ENSMUSG00000020114

Gene Name

cullin associated and neddylation disassociated 1

Synonyms

6330512O03Rik, 2310038O07Rik, D10Ertd516e

MMRRC Submission

042455-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4842 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

119035160-119075960 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 119049451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020315] [ENSMUST00000126373]

AlphaFold

Q6ZQ38

Predicted Effect

probably null
Transcript: ENSMUST00000020315

SMART Domains

Protein: ENSMUSP00000020315
Gene: ENSMUSG00000020114

Domain	Start	End	E-Value	Type
SCOP:d1qgra_	53	994	4e-44	SMART
Pfam:TIP120	1040	1203	1.9e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126373

SMART Domains

Protein: ENSMUSP00000115234
Gene: ENSMUSG00000020114

Domain	Start	End	E-Value	Type
Pfam:HEAT	56	86	2.1e-5	PFAM
low complexity region	124	135	N/A	INTRINSIC
Pfam:HEAT_EZ	155	209	3.7e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149155

Meta Mutation Damage Score

0.9588

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

95% (107/113)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 15,164,001 (GRCm39)	I43L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,749,153 (GRCm39)		noncoding transcript	Het
Abcc8	T	C	7: 45,800,252 (GRCm39)	K510R	probably damaging	Het
Adamtsl3	C	T	7: 82,178,069 (GRCm39)	R511C	probably damaging	Het
Arhgap11a	T	C	2: 113,670,107 (GRCm39)	S339G	probably damaging	Het
C2cd3	A	G	7: 100,065,397 (GRCm39)	T728A	probably benign	Het
Catspere1	A	T	1: 177,699,624 (GRCm39)		noncoding transcript	Het
Ccdc121rt2	A	T	5: 112,598,106 (GRCm39)	K218*	probably null	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cdc16	A	G	8: 13,831,644 (GRCm39)		probably benign	Het
Ces1g	C	T	8: 94,060,323 (GRCm39)	E99K	probably benign	Het
Chrna7	A	C	7: 62,862,196 (GRCm39)	L10R	probably benign	Het
Clnk	C	T	5: 38,870,412 (GRCm39)		probably null	Het
Cntrob	C	G	11: 69,206,220 (GRCm39)	L315F	possibly damaging	Het
Ctdp1	A	G	18: 80,451,941 (GRCm39)	S145P	unknown	Het
Dennd2a	T	C	6: 39,474,044 (GRCm39)	D430G	probably damaging	Het
Dnajc16	A	G	4: 141,501,936 (GRCm39)	F298S	probably damaging	Het
Dock5	T	C	14: 68,055,012 (GRCm39)	D618G	probably damaging	Het
Drc3	G	A	11: 60,261,361 (GRCm39)	A171T	probably benign	Het
Ecel1	A	T	1: 87,081,023 (GRCm39)	N322K	probably damaging	Het
Eftud2	A	G	11: 102,745,640 (GRCm39)	F362L	probably damaging	Het
Egfr	C	T	11: 16,861,607 (GRCm39)	H1129Y	probably benign	Het
Eif2b1	A	G	5: 124,714,971 (GRCm39)	S102P	probably damaging	Het
Erich3	T	A	3: 154,410,480 (GRCm39)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,779,580 (GRCm39)	L261S	probably damaging	Het
Fat3	A	C	9: 15,908,883 (GRCm39)	V2373G	probably damaging	Het
Fcgbpl1	T	A	7: 27,850,147 (GRCm39)	C1198S	probably damaging	Het
Gadd45a	A	T	6: 67,013,873 (GRCm39)	L58Q	probably damaging	Het
Gask1b	G	A	3: 79,843,912 (GRCm39)	R377H	probably damaging	Het
Gipr	C	T	7: 18,896,601 (GRCm39)	R165H	probably damaging	Het
Gje1	C	T	10: 14,593,082 (GRCm39)	G45R	probably null	Het
Gldc	T	A	19: 30,111,132 (GRCm39)	N548I	possibly damaging	Het
Gm13035	A	G	4: 146,009,993 (GRCm39)		noncoding transcript	Het
Gm27013	T	A	6: 130,497,700 (GRCm39)		noncoding transcript	Het
Gm5436	A	T	12: 84,305,584 (GRCm39)		noncoding transcript	Het
Grik3	C	A	4: 125,584,969 (GRCm39)	N612K	probably damaging	Het
H2bc13	C	T	13: 21,900,234 (GRCm39)		probably benign	Het
Hfm1	C	A	5: 107,040,617 (GRCm39)	W716L	probably damaging	Het
Il5ra	T	C	6: 106,715,336 (GRCm39)	Y166C	probably damaging	Het
Iqcb1	A	G	16: 36,655,952 (GRCm39)	E113G	probably benign	Het
Kcnk10	A	T	12: 98,401,175 (GRCm39)	M486K	probably benign	Het
Kcnv2	A	G	19: 27,301,190 (GRCm39)	D347G	probably damaging	Het
Kif21b	C	A	1: 136,072,958 (GRCm39)	H119N	probably damaging	Het
Lamb1	C	T	12: 31,337,432 (GRCm39)	H388Y	probably damaging	Het
Leng9	T	C	7: 4,152,385 (GRCm39)	D97G	probably damaging	Het
Lmbr1	G	A	5: 29,492,424 (GRCm39)	T55I	probably damaging	Het
Lrp1	G	T	10: 127,419,805 (GRCm39)	R935S	probably damaging	Het
Lrp2	A	T	2: 69,299,755 (GRCm39)	V3099E	probably benign	Het
Lrrcc1	C	A	3: 14,627,571 (GRCm39)	D503E	probably benign	Het
Map1a	T	A	2: 121,132,567 (GRCm39)	S890T	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mybph	A	T	1: 134,126,233 (GRCm39)	E349V	probably damaging	Het
Myh7b	C	A	2: 155,475,909 (GRCm39)	L1935M	probably benign	Het
Myh9	T	C	15: 77,653,453 (GRCm39)	E1348G	probably damaging	Het
Myzap	A	G	9: 71,456,037 (GRCm39)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,292,534 (GRCm39)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,555,160 (GRCm39)	S412N	probably null	Het
Nr1h3	A	G	2: 91,020,563 (GRCm39)	F257L	probably benign	Het
Nudt5	T	C	2: 5,869,239 (GRCm39)	V155A	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or13a25	A	T	7: 140,247,502 (GRCm39)	I94F	probably damaging	Het
Or52d3	A	T	7: 104,229,422 (GRCm39)	I190L	probably benign	Het
Or6ae1	A	G	7: 139,742,602 (GRCm39)	L87P	possibly damaging	Het
Pde1a	T	A	2: 79,959,181 (GRCm39)		probably benign	Het
Pde4dip	T	A	3: 97,700,844 (GRCm39)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,662,135 (GRCm39)		probably null	Het
Pnkp	C	A	7: 44,511,070 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,870,064 (GRCm39)	T15A	probably benign	Het
Polq	G	T	16: 36,869,145 (GRCm39)		probably null	Het
Ppfia2	C	T	10: 106,690,818 (GRCm39)	T553I	probably benign	Het
Ptk6	T	G	2: 180,838,784 (GRCm39)	N323T	possibly damaging	Het
Rhox3c	G	A	X: 36,652,077 (GRCm39)	A60T	probably damaging	Het
Rnf4	T	A	5: 34,506,053 (GRCm39)	V61E	probably damaging	Het
Rnf5	A	G	17: 34,820,977 (GRCm39)		probably benign	Het
Sardh	A	G	2: 27,081,967 (GRCm39)	V853A	probably benign	Het
Scfd1	T	C	12: 51,436,109 (GRCm39)	V86A	probably damaging	Het
Scube3	G	A	17: 28,383,097 (GRCm39)	C425Y	probably damaging	Het
Sema5a	C	T	15: 32,609,563 (GRCm39)	H490Y	probably benign	Het
Sfta2	T	C	17: 35,960,773 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,031,049 (GRCm39)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,458,295 (GRCm39)	R463G	probably damaging	Het
Socs7	T	A	11: 97,267,829 (GRCm39)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,654,988 (GRCm39)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,078,478 (GRCm39)	H426P	probably benign	Het
Stag3	T	G	5: 138,307,627 (GRCm39)		probably null	Het
Stxbp5	C	A	10: 9,638,635 (GRCm39)	V1055L	probably benign	Het
Synpo	A	T	18: 60,736,684 (GRCm39)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,759,770 (GRCm39)	V135A	possibly damaging	Het
Tas2r116	G	A	6: 132,832,660 (GRCm39)	S87N	probably benign	Het
Tomm6	T	C	17: 47,998,994 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,966,915 (GRCm39)	M113T	probably benign	Het
Trim58	G	A	11: 58,542,150 (GRCm39)	G370E	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Vit	T	C	17: 78,909,308 (GRCm39)	S252P	probably benign	Het
Vma21-ps	T	A	4: 52,496,943 (GRCm39)	D101V	probably damaging	Het
Vmn1r173	A	T	7: 23,402,361 (GRCm39)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,529,336 (GRCm39)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,582,246 (GRCm39)	N545S	probably damaging	Het
Zfp865	A	G	7: 5,034,640 (GRCm39)	Y875C	probably damaging	Het

Other mutations in Cand1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Cand1	APN	10	119,047,040 (GRCm39)	missense	probably benign	0.00
IGL00917:Cand1	APN	10	119,046,841 (GRCm39)	missense	possibly damaging	0.87
IGL01383:Cand1	APN	10	119,044,072 (GRCm39)	missense	probably damaging	0.96
IGL02016:Cand1	APN	10	119,048,473 (GRCm39)	missense	probably damaging	0.98
IGL02271:Cand1	APN	10	119,047,626 (GRCm39)	missense	probably damaging	1.00
IGL02282:Cand1	APN	10	119,046,614 (GRCm39)	missense	probably benign	0.26
IGL02494:Cand1	APN	10	119,049,522 (GRCm39)	missense	probably benign
IGL02527:Cand1	APN	10	119,042,712 (GRCm39)	missense	probably damaging	1.00
IGL02675:Cand1	APN	10	119,055,602 (GRCm39)	missense	probably damaging	0.99
IGL02796:Cand1	UTSW	10	119,049,543 (GRCm39)	missense	probably damaging	1.00
R0114:Cand1	UTSW	10	119,052,427 (GRCm39)	missense	probably benign
R0667:Cand1	UTSW	10	119,052,425 (GRCm39)	missense	probably benign	0.00
R1589:Cand1	UTSW	10	119,049,471 (GRCm39)	missense	probably damaging	0.97
R1591:Cand1	UTSW	10	119,047,774 (GRCm39)	missense	possibly damaging	0.63
R1626:Cand1	UTSW	10	119,045,919 (GRCm39)	missense	possibly damaging	0.46
R1771:Cand1	UTSW	10	119,044,211 (GRCm39)	missense	probably benign	0.05
R1937:Cand1	UTSW	10	119,038,925 (GRCm39)	missense	probably damaging	1.00
R1951:Cand1	UTSW	10	119,043,925 (GRCm39)	splice site	probably benign
R1990:Cand1	UTSW	10	119,045,972 (GRCm39)	missense	probably damaging	1.00
R3522:Cand1	UTSW	10	119,075,102 (GRCm39)	missense	probably benign	0.01
R4207:Cand1	UTSW	10	119,047,750 (GRCm39)	missense	probably damaging	1.00
R4209:Cand1	UTSW	10	119,047,463 (GRCm39)	missense	probably benign	0.24
R4502:Cand1	UTSW	10	119,052,572 (GRCm39)	missense	probably benign
R4791:Cand1	UTSW	10	119,046,607 (GRCm39)	missense	probably benign	0.02
R4841:Cand1	UTSW	10	119,049,451 (GRCm39)	critical splice donor site	probably null
R5326:Cand1	UTSW	10	119,047,933 (GRCm39)	missense	probably benign
R5606:Cand1	UTSW	10	119,047,359 (GRCm39)	missense	possibly damaging	0.63
R5613:Cand1	UTSW	10	119,051,228 (GRCm39)	missense	possibly damaging	0.93
R5768:Cand1	UTSW	10	119,046,910 (GRCm39)	missense	probably benign	0.06
R5884:Cand1	UTSW	10	119,049,670 (GRCm39)	missense	possibly damaging	0.90
R6006:Cand1	UTSW	10	119,045,933 (GRCm39)	missense	possibly damaging	0.83
R6062:Cand1	UTSW	10	119,053,915 (GRCm39)	missense	possibly damaging	0.89
R6734:Cand1	UTSW	10	119,047,897 (GRCm39)	missense	possibly damaging	0.67
R6838:Cand1	UTSW	10	119,045,935 (GRCm39)	missense	probably benign	0.21
R7058:Cand1	UTSW	10	119,047,659 (GRCm39)	missense	probably benign	0.00
R7342:Cand1	UTSW	10	119,047,692 (GRCm39)	missense	possibly damaging	0.64
R7425:Cand1	UTSW	10	119,052,148 (GRCm39)	missense	probably benign	0.00
R7705:Cand1	UTSW	10	119,048,343 (GRCm39)	critical splice donor site	probably null
R7812:Cand1	UTSW	10	119,053,864 (GRCm39)	missense	probably benign	0.04
R7916:Cand1	UTSW	10	119,052,493 (GRCm39)	missense	probably benign	0.00
R7982:Cand1	UTSW	10	119,052,378 (GRCm39)	missense	probably damaging	0.97
R8117:Cand1	UTSW	10	119,042,721 (GRCm39)	missense	probably damaging	1.00
R9388:Cand1	UTSW	10	119,047,213 (GRCm39)	missense	possibly damaging	0.62
Z1176:Cand1	UTSW	10	119,075,099 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGACTCCTCAGGCTTCCTC -3'
(R):5'- TGTCTCTCCTGCGCTGATAG -3'

Sequencing Primer
(F):5'- AGCAACTTCTCTATGCTCAATCAGTG -3'
(R):5'- CCTGCGCTGATAGCCAGATTTAAAG -3'

Posted On

2016-03-16