Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Cand1'

177747

Institutional Source

Beutler Lab

Gene Symbol

Cand1

Ensembl Gene

ENSMUSG00000020114

Gene Name

cullin associated and neddylation disassociated 1

Synonyms

D10Ertd516e, 2310038O07Rik, 6330512O03Rik

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1589 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

119199255-119240055 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119213566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 425 (L425P)

Ref Sequence

ENSEMBL: ENSMUSP00000020315 (fasta)

Gene Model

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

AlphaFold

Q6ZQ38

Predicted Effect

probably damaging
Transcript: ENSMUST00000020315
AA Change: L425P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020315
Gene: ENSMUSG00000020114
AA Change: L425P

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

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,441 (GRCm38)		probably benign	Het
Aadacl2	C	T	3: 60,010,576 (GRCm38)	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223 (GRCm38)	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563 (GRCm38)	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517 (GRCm38)	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948 (GRCm38)	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995 (GRCm38)	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575 (GRCm38)	D172G	probably benign	Het
Bax	T	C	7: 45,465,247 (GRCm38)	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859 (GRCm38)	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266 (GRCm38)		probably benign	Het
Caskin1	G	A	17: 24,505,478 (GRCm38)		probably null	Het
Cd248	C	T	19: 5,069,932 (GRCm38)	P603S	probably benign	Het
Cep95	G	T	11: 106,800,104 (GRCm38)	R143L	probably benign	Het
Clptm1l	G	T	13: 73,614,673 (GRCm38)		probably null	Het
Cntnap5a	T	C	1: 116,060,200 (GRCm38)	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990 (GRCm38)	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461 (GRCm38)	S370P	probably damaging	Het
Enah	G	T	1: 181,922,293 (GRCm38)	T327K	probably damaging	Het
Farp2	A	T	1: 93,579,860 (GRCm38)	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612 (GRCm38)	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176 (GRCm38)	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328 (GRCm38)	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038 (GRCm38)	S248*	probably null	Het
Glul	A	T	1: 153,905,538 (GRCm38)		probably benign	Het
Gm28042	A	G	2: 120,041,406 (GRCm38)	T946A	probably benign	Het
Golga3	T	A	5: 110,181,783 (GRCm38)	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967 (GRCm38)	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911 (GRCm38)	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785 (GRCm38)	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332 (GRCm38)	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Itga9	T	C	9: 118,607,117 (GRCm38)		probably null	Het
Itgb1	T	A	8: 128,705,458 (GRCm38)	C16S	probably damaging	Het
Itgb1	G	T	8: 128,705,459 (GRCm38)	C16F	possibly damaging	Het
Kat14	A	G	2: 144,394,100 (GRCm38)	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541 (GRCm38)		probably null	Het
Kif12	T	A	4: 63,166,500 (GRCm38)	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474 (GRCm38)	S44P	probably damaging	Het
Lonp2	T	C	8: 86,673,072 (GRCm38)		probably benign	Het
Lrp1	C	T	10: 127,605,606 (GRCm38)	S216N	probably benign	Het
Lrrc19	T	C	4: 94,640,950 (GRCm38)	S32G	probably benign	Het
Mdm2	G	A	10: 117,690,529 (GRCm38)	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632 (GRCm38)	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647 (GRCm38)	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524 (GRCm38)	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176 (GRCm38)	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488 (GRCm38)	A119V	probably benign	Het
Mtmr11	A	G	3: 96,168,113 (GRCm38)	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977 (GRCm38)	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075 (GRCm38)	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865 (GRCm38)	I24T	probably benign	Het
Olfr1477	C	T	19: 13,502,757 (GRCm38)	T138M	probably benign	Het
Olfr675	A	G	7: 105,024,560 (GRCm38)	V140A	probably benign	Het
Olfr703	A	G	7: 106,845,196 (GRCm38)	Y195C	possibly damaging	Het
Olfr816	A	G	10: 129,911,681 (GRCm38)	V199A	probably benign	Het
Omp	G	T	7: 98,145,359 (GRCm38)	D20E	probably benign	Het
Otog	A	G	7: 46,283,908 (GRCm38)	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292 (GRCm38)	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986 (GRCm38)	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792 (GRCm38)	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529 (GRCm38)	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807 (GRCm38)	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381 (GRCm38)	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462 (GRCm38)	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447 (GRCm38)	V8I	probably benign	Het
Soga1	A	T	2: 157,027,637 (GRCm38)	M1026K	probably benign	Het
Spen	T	C	4: 141,488,024 (GRCm38)	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015 (GRCm38)		probably null	Het
Tars	A	G	15: 11,388,175 (GRCm38)	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767 (GRCm38)	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960 (GRCm38)	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706 (GRCm38)	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526 (GRCm38)	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680 (GRCm38)	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551 (GRCm38)	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390 (GRCm38)	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872 (GRCm38)	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961 (GRCm38)	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776 (GRCm38)	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520 (GRCm38)		probably benign	Het
Vmn2r81	C	A	10: 79,293,024 (GRCm38)	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230 (GRCm38)	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972 (GRCm38)	V239L	probably benign	Het
Wdr17	C	T	8: 54,703,907 (GRCm38)		probably benign	Het
Zfhx4	A	C	3: 5,241,729 (GRCm38)	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,171,745 (GRCm38)		probably null	Het

Other mutations in Cand1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Cand1	APN	10	119,211,135 (GRCm38)	missense	probably benign	0.00
IGL00917:Cand1	APN	10	119,210,936 (GRCm38)	missense	possibly damaging	0.87
IGL01383:Cand1	APN	10	119,208,167 (GRCm38)	missense	probably damaging	0.96
IGL02016:Cand1	APN	10	119,212,568 (GRCm38)	missense	probably damaging	0.98
IGL02271:Cand1	APN	10	119,211,721 (GRCm38)	missense	probably damaging	1.00
IGL02282:Cand1	APN	10	119,210,709 (GRCm38)	missense	probably benign	0.26
IGL02494:Cand1	APN	10	119,213,617 (GRCm38)	missense	probably benign
IGL02527:Cand1	APN	10	119,206,807 (GRCm38)	missense	probably damaging	1.00
IGL02675:Cand1	APN	10	119,219,697 (GRCm38)	missense	probably damaging	0.99
IGL02796:Cand1	UTSW	10	119,213,638 (GRCm38)	missense	probably damaging	1.00
R0114:Cand1	UTSW	10	119,216,522 (GRCm38)	missense	probably benign
R0667:Cand1	UTSW	10	119,216,520 (GRCm38)	missense	probably benign	0.00
R1591:Cand1	UTSW	10	119,211,869 (GRCm38)	missense	possibly damaging	0.63
R1626:Cand1	UTSW	10	119,210,014 (GRCm38)	missense	possibly damaging	0.46
R1771:Cand1	UTSW	10	119,208,306 (GRCm38)	missense	probably benign	0.05
R1937:Cand1	UTSW	10	119,203,020 (GRCm38)	missense	probably damaging	1.00
R1951:Cand1	UTSW	10	119,208,020 (GRCm38)	splice site	probably benign
R1990:Cand1	UTSW	10	119,210,067 (GRCm38)	missense	probably damaging	1.00
R3522:Cand1	UTSW	10	119,239,197 (GRCm38)	missense	probably benign	0.01
R4207:Cand1	UTSW	10	119,211,845 (GRCm38)	missense	probably damaging	1.00
R4209:Cand1	UTSW	10	119,211,558 (GRCm38)	missense	probably benign	0.24
R4502:Cand1	UTSW	10	119,216,667 (GRCm38)	missense	probably benign
R4791:Cand1	UTSW	10	119,210,702 (GRCm38)	missense	probably benign	0.02
R4841:Cand1	UTSW	10	119,213,546 (GRCm38)	critical splice donor site	probably null
R4842:Cand1	UTSW	10	119,213,546 (GRCm38)	critical splice donor site	probably null
R5326:Cand1	UTSW	10	119,212,028 (GRCm38)	missense	probably benign
R5606:Cand1	UTSW	10	119,211,454 (GRCm38)	missense	possibly damaging	0.63
R5613:Cand1	UTSW	10	119,215,323 (GRCm38)	missense	possibly damaging	0.93
R5768:Cand1	UTSW	10	119,211,005 (GRCm38)	missense	probably benign	0.06
R5884:Cand1	UTSW	10	119,213,765 (GRCm38)	missense	possibly damaging	0.90
R6006:Cand1	UTSW	10	119,210,028 (GRCm38)	missense	possibly damaging	0.83
R6062:Cand1	UTSW	10	119,218,010 (GRCm38)	missense	possibly damaging	0.89
R6734:Cand1	UTSW	10	119,211,992 (GRCm38)	missense	possibly damaging	0.67
R6838:Cand1	UTSW	10	119,210,030 (GRCm38)	missense	probably benign	0.21
R7058:Cand1	UTSW	10	119,211,754 (GRCm38)	missense	probably benign	0.00
R7342:Cand1	UTSW	10	119,211,787 (GRCm38)	missense	possibly damaging	0.64
R7425:Cand1	UTSW	10	119,216,243 (GRCm38)	missense	probably benign	0.00
R7705:Cand1	UTSW	10	119,212,438 (GRCm38)	critical splice donor site	probably null
R7812:Cand1	UTSW	10	119,217,959 (GRCm38)	missense	probably benign	0.04
R7916:Cand1	UTSW	10	119,216,588 (GRCm38)	missense	probably benign	0.00
R7982:Cand1	UTSW	10	119,216,473 (GRCm38)	missense	probably damaging	0.97
R8117:Cand1	UTSW	10	119,206,816 (GRCm38)	missense	probably damaging	1.00
R9388:Cand1	UTSW	10	119,211,308 (GRCm38)	missense	possibly damaging	0.62
Z1176:Cand1	UTSW	10	119,239,194 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCAAAGACTCCTCAGGCTTCCTC -3'
(R):5'- TACAAGACTGTCTCTCCTGCGCTG -3'

Sequencing Primer
(F):5'- AGGCTTCCTCATGGTTCTACTAAG -3'
(R):5'- CTGCGCTGATAGCCAGATTTAAAG -3'

Posted On

2014-04-24