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

Is this an 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		probably benign	Het
Aadacl2	C	T	3: 60,010,576	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575	D172G	probably benign	Het
Bax	T	C	7: 45,465,247	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266		probably benign	Het
Caskin1	G	A	17: 24,505,478		probably null	Het
Cd248	C	T	19: 5,069,932	P603S	probably benign	Het
Cep95	G	T	11: 106,800,104	R143L	probably benign	Het
Clptm1l	G	T	13: 73,614,673		probably null	Het
Cntnap5a	T	C	1: 116,060,200	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461	S370P	probably damaging	Het
Enah	G	T	1: 181,922,293	T327K	probably damaging	Het
Farp2	A	T	1: 93,579,860	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038	S248*	probably null	Het
Glul	A	T	1: 153,905,538		probably benign	Het
Gm28042	A	G	2: 120,041,406	T946A	probably benign	Het
Golga3	T	A	5: 110,181,783	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itga9	T	C	9: 118,607,117		probably null	Het
Itgb1	T	A	8: 128,705,458	C16S	probably damaging	Het
Itgb1	G	T	8: 128,705,459	C16F	possibly damaging	Het
Kat14	A	G	2: 144,394,100	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541		probably null	Het
Kif12	T	A	4: 63,166,500	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474	S44P	probably damaging	Het
Lonp2	T	C	8: 86,673,072		probably benign	Het
Lrp1	C	T	10: 127,605,606	S216N	probably benign	Het
Lrrc19	T	C	4: 94,640,950	S32G	probably benign	Het
Mdm2	G	A	10: 117,690,529	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488	A119V	probably benign	Het
Mtmr11	A	G	3: 96,168,113	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865	I24T	probably benign	Het
Olfr1477	C	T	19: 13,502,757	T138M	probably benign	Het
Olfr675	A	G	7: 105,024,560	V140A	probably benign	Het
Olfr703	A	G	7: 106,845,196	Y195C	possibly damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Omp	G	T	7: 98,145,359	D20E	probably benign	Het
Otog	A	G	7: 46,283,908	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447	V8I	probably benign	Het
Soga1	A	T	2: 157,027,637	M1026K	probably benign	Het
Spen	T	C	4: 141,488,024	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015		probably null	Het
Tars	A	G	15: 11,388,175	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520		probably benign	Het
Vmn2r81	C	A	10: 79,293,024	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972	V239L	probably benign	Het
Wdr17	C	T	8: 54,703,907		probably benign	Het
Zfhx4	A	C	3: 5,241,729	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,171,745		probably null	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
R0114:Cand1	UTSW	10	119216522	missense	probably benign
R0667:Cand1	UTSW	10	119216520	missense	probably benign	0.00
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'- AGCAAAGACTCCTCAGGCTTCCTC -3'
(R):5'- TACAAGACTGTCTCTCCTGCGCTG -3'

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

Posted On

2014-04-24