Mutagenetix > Incidental Mutation

Incidental Mutation 'R1591:Cand1'

175509

Institutional Source

Beutler Lab

Gene Symbol

Cand1

Ensembl Gene

ENSMUSG00000020114

Gene Name

cullin associated and neddylation disassociated 1

Synonyms

D10Ertd516e, 2310038O07Rik, 6330512O03Rik

MMRRC Submission

039628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119199255-119240055 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119211869 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 572 (T572K)

Ref Sequence

ENSEMBL: ENSMUSP00000020315 (fasta)

Gene Model

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

AlphaFold

Q6ZQ38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020315
AA Change: T572K

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020315
Gene: ENSMUSG00000020114
AA Change: T572K

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: ENSMUST00000148802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149155

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

100% (80/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	G	T	5: 100,809,639	Q201K	probably benign	Het
Acacb	A	T	5: 114,203,423	I829F	possibly damaging	Het
Acvr1b	G	T	15: 101,194,024	V62L	probably benign	Het
Adam6b	A	T	12: 113,489,832	I90F	probably benign	Het
Adgrf1	T	C	17: 43,310,981	L703P	probably damaging	Het
Arf3	T	C	15: 98,742,788		probably benign	Het
Asns	T	C	6: 7,678,007	D357G	probably damaging	Het
Atr	T	C	9: 95,945,385	M2461T	probably damaging	Het
B3galt4	G	A	17: 33,950,839	R142C	probably damaging	Het
Bod1l	T	C	5: 41,819,220	I1584V	probably benign	Het
Bub3	T	C	7: 131,561,608		probably null	Het
Camkk2	A	G	5: 122,757,558		probably null	Het
Caprin2	A	T	6: 148,873,108	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,636,342	T452A	probably benign	Het
Cdh4	T	C	2: 179,886,864		probably null	Het
Cfap61	A	G	2: 146,145,458	R1060G	probably benign	Het
Chd9	A	G	8: 90,983,538	D314G	probably damaging	Het
Csmd1	T	A	8: 15,900,710	I3500F	probably damaging	Het
Dnah1	G	T	14: 31,272,332	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,076,600	E2884K	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Exosc10	T	A	4: 148,568,383	I485N	probably benign	Het
Fap	T	C	2: 62,553,857	K2E	probably damaging	Het
Fgfr1	G	A	8: 25,572,720	G671D	probably damaging	Het
Fzr1	C	T	10: 81,370,367	R162Q	possibly damaging	Het
Gm17727	T	C	9: 35,776,656	D96G	probably damaging	Het
Grap2	A	T	15: 80,648,448	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200	W246R	probably damaging	Het
Kcna3	A	T	3: 107,037,029	I203F	probably damaging	Het
Kcng1	T	C	2: 168,268,710	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,789,231	H798P	probably benign	Het
Kif21b	T	C	1: 136,149,317	L359P	probably damaging	Het
Krt6a	A	T	15: 101,692,357		probably null	Het
Lman1l	C	T	9: 57,615,802	V125I	probably benign	Het
Lrp1	C	T	10: 127,605,606	S216N	probably benign	Het
Lrp3	A	G	7: 35,202,365	V676A	probably benign	Het
Lrrc63	T	A	14: 75,125,892	K266N	possibly damaging	Het
Mccc1	C	T	3: 35,989,857	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092	V1395A	possibly damaging	Het
Mmrn1	A	T	6: 60,944,771	R71*	probably null	Het
Mrps2	C	T	2: 28,469,488	A119V	probably benign	Het
Ogdh	T	C	11: 6,349,384	F750S	probably damaging	Het
Olfr147	A	G	9: 38,402,936	T18A	probably damaging	Het
Olfr356	C	A	2: 36,937,978	N286K	probably damaging	Het
Olfr484	T	A	7: 108,124,364	I300F	possibly damaging	Het
Olfr612	T	G	7: 103,539,067	T56P	probably benign	Het
Olfr901	A	T	9: 38,430,411	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,209,983	I194L	probably benign	Het
Pacsin2	T	C	15: 83,385,051	E14G	probably damaging	Het
Pcdh7	A	G	5: 57,720,422	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,485,825	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,748,178	R109K	probably benign	Het
Ppp2ca	T	C	11: 52,099,089	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,211,504	T102S	probably damaging	Het
Rsf1	T	A	7: 97,639,313	C132*	probably null	Het
Rufy1	G	A	11: 50,394,928	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,424,711	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,254,993	E172G	probably damaging	Het
Skint5	C	T	4: 113,999,454		probably null	Het
Slc25a27	A	G	17: 43,653,424	I185T	probably benign	Het
Slc41a3	A	C	6: 90,633,695	K180Q	probably benign	Het
Slc7a14	A	C	3: 31,237,449	F227V	probably damaging	Het
Smg1	T	C	7: 118,156,919		probably benign	Het
St6galnac1	A	T	11: 116,765,863	D483E	probably damaging	Het
Tes	A	G	6: 17,097,442	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471	D290Y	probably damaging	Het
Tifab	T	A	13: 56,176,351	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,940,889		probably null	Het
Tnfrsf21	T	A	17: 43,085,374	S516R	probably benign	Het
Ttn	T	C	2: 76,776,045	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747	S3692T	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Zfp113	T	C	5: 138,151,197		probably benign	Het
Zfp26	T	C	9: 20,437,625	T548A	probably benign	Het
Zfp870	C	T	17: 32,884,016	G114D	probably damaging	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
R1589:Cand1	UTSW	10	119213566	missense	probably damaging	0.97
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'- GGTCCCCAGTTTCAAAGCTCTCTG -3'
(R):5'- ACCTGAAGATTGATGCGCTGTCG -3'

Sequencing Primer
(F):5'- GGCCTCAGATCTATCTTCAAAGG -3'
(R):5'- AAGTTTTCCATCCTCATGTTCAGG -3'

Posted On

2014-04-24