Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Cand1'

475722

Institutional Source

Beutler Lab

Gene Symbol

Cand1

Ensembl Gene

ENSMUSG00000020114

Gene Name

cullin associated and neddylation disassociated 1

Synonyms

6330512O03Rik, 2310038O07Rik, D10Ertd516e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119035160-119075960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119075102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 15 (L15Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115234 (fasta)

Gene Model

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

AlphaFold

Q6ZQ38

Predicted Effect

probably benign
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
AA Change: L15Q

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

SMART Domains

Protein: ENSMUSP00000115234
Gene: ENSMUSG00000020114
AA Change: L15Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,592,378 (GRCm39)	E888G	probably damaging	Het
Arhgef10	T	C	8: 15,004,918 (GRCm39)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,396,500 (GRCm39)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,653,055 (GRCm39)	V2A	possibly damaging	Het
Cavin3	C	A	7: 105,130,350 (GRCm39)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,821,830 (GRCm39)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,168,647 (GRCm39)	K161E	probably damaging	Het
Chil4	A	T	3: 106,111,056 (GRCm39)	N279K	probably benign	Het
Chst13	T	G	6: 90,295,245 (GRCm39)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,010,664 (GRCm39)	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,593,319 (GRCm39)	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,713,113 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,657,275 (GRCm39)	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,461,163 (GRCm39)	S182P	probably benign	Het
Fkbp5	T	C	17: 28,634,970 (GRCm39)	T180A	probably benign	Het
Flg2	T	A	3: 93,127,334 (GRCm39)	I2082N	unknown	Het
Gm4968	A	G	6: 127,210,725 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 116,761,747 (GRCm39)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,218,251 (GRCm39)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,651,430 (GRCm39)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,483,596 (GRCm39)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,348,511 (GRCm39)	S147R	probably benign	Het
Iqca1l	A	G	5: 24,754,624 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,089 (GRCm39)	A282V	probably null	Het
Jmy	T	C	13: 93,590,558 (GRCm39)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,512,984 (GRCm39)	R64C	probably damaging	Het
Kidins220	T	C	12: 25,040,757 (GRCm39)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,656,133 (GRCm39)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,529,543 (GRCm39)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,389,424 (GRCm39)	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,758,927 (GRCm39)	V222M	probably damaging	Het
Mst1	T	C	9: 107,958,702 (GRCm39)		probably benign	Het
Myo7b	C	A	18: 32,143,132 (GRCm39)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,250,355 (GRCm39)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,785,947 (GRCm39)	D164G	probably damaging	Het
Nol11	C	T	11: 107,064,454 (GRCm39)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 26,196,642 (GRCm39)	N1208D	probably benign	Het
Nup155	C	T	15: 8,186,162 (GRCm39)		probably benign	Het
Or5ak20	A	T	2: 85,183,347 (GRCm39)	C308S	probably benign	Het
Or6c38	A	G	10: 128,929,711 (GRCm39)	I44T	possibly damaging	Het
Or8b47	A	G	9: 38,435,081 (GRCm39)	T18A	probably damaging	Het
Or8b54	A	T	9: 38,687,016 (GRCm39)	D155V	possibly damaging	Het
Phf3	A	G	1: 30,844,684 (GRCm39)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,279,250 (GRCm39)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,085,396 (GRCm39)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,314,335 (GRCm39)		probably null	Het
Ptgfrn	T	C	3: 100,950,718 (GRCm39)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,737,720 (GRCm39)		probably benign	Het
Pygb	G	T	2: 150,670,473 (GRCm39)	V763F	probably benign	Het
Ros1	A	C	10: 51,967,091 (GRCm39)	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,898,027 (GRCm39)	F5L	probably benign	Het
Skint5	A	G	4: 113,614,102 (GRCm39)		probably null	Het
Sntg2	A	G	12: 30,362,566 (GRCm39)	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,762,242 (GRCm39)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,584,603 (GRCm39)	M1R	probably null	Het
Sult1c2	T	C	17: 54,279,043 (GRCm39)	E91G	probably damaging	Het
Themis2	C	G	4: 132,512,906 (GRCm39)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,058 (GRCm39)	L232P	probably benign	Het
Trappc1	T	C	11: 69,215,248 (GRCm39)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,951,708 (GRCm39)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,604,339 (GRCm39)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,640,057 (GRCm39)		probably null	Het
Vmn1r184	T	A	7: 25,967,008 (GRCm39)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,283,544 (GRCm39)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,481,792 (GRCm39)	V233F	probably benign	Het
Vps13a	A	C	19: 16,743,857 (GRCm39)		probably benign	Het
Vwa5b2	A	G	16: 20,420,358 (GRCm39)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,994,538 (GRCm39)		probably null	Het
Wdr86	A	G	5: 24,923,305 (GRCm39)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,576,940 (GRCm39)	L47S	probably benign	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
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
R4842: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

Posted On

2017-05-11