Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Cand1'

20665

Institutional Source

Beutler Lab

Gene Symbol

Cand1

Ensembl Gene

ENSMUSG00000020114

Gene Name

cullin associated and neddylation disassociated 1

Synonyms

D10Ertd516e, 2310038O07Rik, 6330512O03Rik

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0114 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

119199255-119240055 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119216522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 233 (D233G)

Ref Sequence

ENSEMBL: ENSMUSP00000115234 (fasta)

Gene Model

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

AlphaFold

Q6ZQ38

Predicted Effect

probably benign
Transcript: ENSMUST00000020315
AA Change: D226G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020315
Gene: ENSMUSG00000020114
AA Change: D226G

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
AA Change: D233G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115234
Gene: ENSMUSG00000020114
AA Change: D233G

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

0.0607

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,985,982		probably benign	Het
4933427D14Rik	T	C	11: 72,195,799	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,799,614	V379L	probably benign	Het
Akt3	T	C	1: 177,067,251	D260G	probably damaging	Het
Alms1	T	C	6: 85,619,803	L537P	probably benign	Het
Anln	A	T	9: 22,353,346	I876N	probably damaging	Het
Ano9	A	T	7: 141,103,239		probably benign	Het
Arhgef10l	T	C	4: 140,583,883	E218G	probably benign	Het
Arnt2	G	A	7: 84,347,530	R63C	probably damaging	Het
Atp9a	G	T	2: 168,710,856	Y63*	probably null	Het
Bmpr2	G	T	1: 59,815,340	C116F	probably damaging	Het
Cftr	A	T	6: 18,282,448	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,620,112	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,686,633	V134A	probably benign	Het
Dnaic1	T	C	4: 41,605,686		probably benign	Het
Dpp10	T	C	1: 123,486,092	I163V	probably benign	Het
Fam151a	A	T	4: 106,734,004	I15F	possibly damaging	Het
Fanca	A	T	8: 123,288,491		probably null	Het
Fes	A	G	7: 80,378,035	V787A	probably damaging	Het
Fnip1	C	T	11: 54,487,801		probably benign	Het
Gabpb1	A	G	2: 126,653,574	I86T	probably damaging	Het
Gm1840	A	G	8: 5,640,359		noncoding transcript	Het
Gmds	A	T	13: 32,227,281	S57T	probably benign	Het
Gnpat	T	G	8: 124,883,357	D426E	probably benign	Het
Gnptab	C	A	10: 88,433,400	P655Q	possibly damaging	Het
Herc1	T	A	9: 66,461,846	F2941I	probably damaging	Het
Herc2	T	C	7: 56,153,774		probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Itga11	T	G	9: 62,735,293	V166G	probably damaging	Het
Itga11	T	C	9: 62,760,302	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,312,879	F1490S	probably damaging	Het
Lama2	C	A	10: 26,993,068	E802*	probably null	Het
Lgi3	C	T	14: 70,531,029		probably benign	Het
Limch1	C	T	5: 67,036,084		probably benign	Het
Lipc	T	C	9: 70,803,781	N363S	probably damaging	Het
Lrit2	A	G	14: 37,068,045		probably null	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mug2	A	G	6: 122,040,648	Y448C	probably damaging	Het
Mybpc3	A	G	2: 91,124,494	E450G	probably damaging	Het
Myo5b	A	T	18: 74,742,171	T1549S	probably benign	Het
Naa15	T	C	3: 51,448,438		probably null	Het
Nckap1l	T	A	15: 103,455,028	C54S	probably benign	Het
Nlrp9b	A	G	7: 20,024,056	D406G	probably benign	Het
Nprl3	T	A	11: 32,239,784		probably benign	Het
Nvl	A	G	1: 181,120,391	V429A	probably benign	Het
Olfr114	A	T	17: 37,589,415	*313K	probably null	Het
Olfr54	G	A	11: 51,027,604	V201I	probably benign	Het
Olfr548-ps1	A	T	7: 102,542,731	Q265L	probably benign	Het
Olfr801	T	A	10: 129,669,598	Y307F	probably benign	Het
Opa1	A	T	16: 29,629,635	N912Y	probably benign	Het
Pcnx	T	C	12: 81,996,095	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,805,443	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,586,653	D91N	probably benign	Het
Polr2b	T	A	5: 77,343,263	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,998,233	R141G	probably benign	Het
Ppm1d	G	A	11: 85,326,905	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Ppp2r5b	C	A	19: 6,228,431	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,576,374	C132S	probably benign	Het
Prg2	A	G	2: 84,983,456		probably benign	Het
Prpf4b	G	A	13: 34,890,488		probably benign	Het
Rad54l2	T	C	9: 106,713,455	T491A	probably damaging	Het
Rnf213	G	T	11: 119,414,587	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055	C825F	probably damaging	Het
Sema4b	A	G	7: 80,219,078		probably benign	Het
Sema6a	A	G	18: 47,290,177	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,424,581	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,337,959	D104G	probably damaging	Het
Specc1	A	T	11: 62,146,313	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,608,459	E76V	probably damaging	Het
Tfr2	T	C	5: 137,577,465	V281A	probably benign	Het
Tgfb1i1	A	C	7: 128,249,494	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,670,239	T122I	probably benign	Het
Tmtc1	G	A	6: 148,412,830		probably benign	Het
Tnfrsf8	T	C	4: 145,288,047	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,584,160	I178N	probably damaging	Het
Ttn	G	C	2: 76,707,093	I26503M	possibly damaging	Het
Usp28	C	A	9: 49,039,023	D589E	probably benign	Het
Utp23	T	C	15: 51,882,511	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,775,380	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,608,858	E142*	probably null	Het
Xrn2	A	T	2: 147,029,779	T374S	probably damaging	Het
Zfp735	A	T	11: 73,710,662	Q144L	probably benign	Het

Other mutations in Cand1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Cand1	APN	10	119211135	missense	probably benign	0.00
IGL00917:Cand1	APN	10	119210936	missense	possibly damaging	0.87
IGL01383:Cand1	APN	10	119208167	missense	probably damaging	0.96
IGL02016:Cand1	APN	10	119212568	missense	probably damaging	0.98
IGL02271:Cand1	APN	10	119211721	missense	probably damaging	1.00
IGL02282:Cand1	APN	10	119210709	missense	probably benign	0.26
IGL02494:Cand1	APN	10	119213617	missense	probably benign
IGL02527:Cand1	APN	10	119206807	missense	probably damaging	1.00
IGL02675:Cand1	APN	10	119219697	missense	probably damaging	0.99
IGL02796:Cand1	UTSW	10	119213638	missense	probably damaging	1.00
R0667:Cand1	UTSW	10	119216520	missense	probably benign	0.00
R1589:Cand1	UTSW	10	119213566	missense	probably damaging	0.97
R1591:Cand1	UTSW	10	119211869	missense	possibly damaging	0.63
R1626:Cand1	UTSW	10	119210014	missense	possibly damaging	0.46
R1771:Cand1	UTSW	10	119208306	missense	probably benign	0.05
R1937:Cand1	UTSW	10	119203020	missense	probably damaging	1.00
R1951:Cand1	UTSW	10	119208020	splice site	probably benign
R1990:Cand1	UTSW	10	119210067	missense	probably damaging	1.00
R3522:Cand1	UTSW	10	119239197	missense	probably benign	0.01
R4207:Cand1	UTSW	10	119211845	missense	probably damaging	1.00
R4209:Cand1	UTSW	10	119211558	missense	probably benign	0.24
R4502:Cand1	UTSW	10	119216667	missense	probably benign
R4791:Cand1	UTSW	10	119210702	missense	probably benign	0.02
R4841:Cand1	UTSW	10	119213546	critical splice donor site	probably null
R4842:Cand1	UTSW	10	119213546	critical splice donor site	probably null
R5326:Cand1	UTSW	10	119212028	missense	probably benign
R5606:Cand1	UTSW	10	119211454	missense	possibly damaging	0.63
R5613:Cand1	UTSW	10	119215323	missense	possibly damaging	0.93
R5768:Cand1	UTSW	10	119211005	missense	probably benign	0.06
R5884:Cand1	UTSW	10	119213765	missense	possibly damaging	0.90
R6006:Cand1	UTSW	10	119210028	missense	possibly damaging	0.83
R6062:Cand1	UTSW	10	119218010	missense	possibly damaging	0.89
R6734:Cand1	UTSW	10	119211992	missense	possibly damaging	0.67
R6838:Cand1	UTSW	10	119210030	missense	probably benign	0.21
R7058:Cand1	UTSW	10	119211754	missense	probably benign	0.00
R7342:Cand1	UTSW	10	119211787	missense	possibly damaging	0.64
R7425:Cand1	UTSW	10	119216243	missense	probably benign	0.00
R7705:Cand1	UTSW	10	119212438	critical splice donor site	probably null
R7812:Cand1	UTSW	10	119217959	missense	probably benign	0.04
R7916:Cand1	UTSW	10	119216588	missense	probably benign	0.00
R7982:Cand1	UTSW	10	119216473	missense	probably damaging	0.97
R8117:Cand1	UTSW	10	119206816	missense	probably damaging	1.00
R9388:Cand1	UTSW	10	119211308	missense	possibly damaging	0.62
Z1176:Cand1	UTSW	10	119239194	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCCTGAGTGTGAATCTGGAAACC -3'
(R):5'- GAGAAGGGATGCTAGGCTTTTGGAC -3'

Sequencing Primer
(F):5'- TGAATCTGGAAACCCATGTACGAC -3'
(R):5'- AGACATACTGCTAGTGCTCTG -3'

Posted On

2013-04-11