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

6330512O03Rik, 2310038O07Rik, D10Ertd516e

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

119035160-119075960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119047774 bp (GRCm39)

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: 100,957,505 (GRCm39)	Q201K	probably benign	Het
Acacb	A	T	5: 114,341,484 (GRCm39)	I829F	possibly damaging	Het
Acvr1b	G	T	15: 101,091,905 (GRCm39)	V62L	probably benign	Het
Adam6b	A	T	12: 113,453,452 (GRCm39)	I90F	probably benign	Het
Adgrf1	T	C	17: 43,621,872 (GRCm39)	L703P	probably damaging	Het
Arf3	T	C	15: 98,640,669 (GRCm39)		probably benign	Het
Asns	T	C	6: 7,678,007 (GRCm39)	D357G	probably damaging	Het
Atr	T	C	9: 95,827,438 (GRCm39)	M2461T	probably damaging	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Bod1l	T	C	5: 41,976,563 (GRCm39)	I1584V	probably benign	Het
Bub3	T	C	7: 131,163,337 (GRCm39)		probably null	Het
Camkk2	A	G	5: 122,895,621 (GRCm39)		probably null	Het
Caprin2	A	T	6: 148,774,606 (GRCm39)	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,873,799 (GRCm39)	T452A	probably benign	Het
Cdh4	T	C	2: 179,528,657 (GRCm39)		probably null	Het
Cfap61	A	G	2: 145,987,378 (GRCm39)	R1060G	probably benign	Het
Chd9	A	G	8: 91,710,166 (GRCm39)	D314G	probably damaging	Het
Cplx3	C	T	9: 57,523,085 (GRCm39)	V125I	probably benign	Het
Csmd1	T	A	8: 15,950,710 (GRCm39)	I3500F	probably damaging	Het
Dnah1	G	T	14: 30,994,289 (GRCm39)	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,053,583 (GRCm39)	E2884K	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Exosc10	T	A	4: 148,652,840 (GRCm39)	I485N	probably benign	Het
Fap	T	C	2: 62,384,201 (GRCm39)	K2E	probably damaging	Het
Fgfr1	G	A	8: 26,062,736 (GRCm39)	G671D	probably damaging	Het
Fzr1	C	T	10: 81,206,201 (GRCm39)	R162Q	possibly damaging	Het
Grap2	A	T	15: 80,532,649 (GRCm39)	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200 (GRCm39)	W246R	probably damaging	Het
Kcna3	A	T	3: 106,944,345 (GRCm39)	I203F	probably damaging	Het
Kcng1	T	C	2: 168,110,630 (GRCm39)	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,680,057 (GRCm39)	H798P	probably benign	Het
Kif21b	T	C	1: 136,077,055 (GRCm39)	L359P	probably damaging	Het
Krt6a	A	T	15: 101,600,792 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,441,475 (GRCm39)	S216N	probably benign	Het
Lrp3	A	G	7: 34,901,790 (GRCm39)	V676A	probably benign	Het
Lrrc63	T	A	14: 75,363,332 (GRCm39)	K266N	possibly damaging	Het
Mccc1	C	T	3: 36,044,006 (GRCm39)	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092 (GRCm39)	V1395A	possibly damaging	Het
Mmrn1	A	T	6: 60,921,755 (GRCm39)	R71*	probably null	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Ogdh	T	C	11: 6,299,384 (GRCm39)	F750S	probably damaging	Het
Or1ak2	C	A	2: 36,827,990 (GRCm39)	N286K	probably damaging	Het
Or51aa2	T	G	7: 103,188,274 (GRCm39)	T56P	probably benign	Het
Or5p60	T	A	7: 107,723,571 (GRCm39)	I300F	possibly damaging	Het
Or8b3	A	G	9: 38,314,232 (GRCm39)	T18A	probably damaging	Het
Or8b42	A	T	9: 38,341,707 (GRCm39)	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,030,353 (GRCm39)	I194L	probably benign	Het
Pacsin2	T	C	15: 83,269,252 (GRCm39)	E14G	probably damaging	Het
Pate7	T	C	9: 35,687,952 (GRCm39)	D96G	probably damaging	Het
Pcdh7	A	G	5: 57,877,764 (GRCm39)	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,618,878 (GRCm39)	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,693,904 (GRCm39)	R109K	probably benign	Het
Ppp2ca	T	C	11: 51,989,916 (GRCm39)	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,258,278 (GRCm39)	T102S	probably damaging	Het
Rsf1	T	A	7: 97,288,520 (GRCm39)	C132*	probably null	Het
Rufy1	G	A	11: 50,285,755 (GRCm39)	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,074,135 (GRCm39)	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,145,819 (GRCm39)	E172G	probably damaging	Het
Skint5	C	T	4: 113,856,651 (GRCm39)		probably null	Het
Slc25a27	A	G	17: 43,964,315 (GRCm39)	I185T	probably benign	Het
Slc41a3	A	C	6: 90,610,677 (GRCm39)	K180Q	probably benign	Het
Slc7a14	A	C	3: 31,291,598 (GRCm39)	F227V	probably damaging	Het
Smg1	T	C	7: 117,756,142 (GRCm39)		probably benign	Het
St6galnac1	A	T	11: 116,656,689 (GRCm39)	D483E	probably damaging	Het
Tes	A	G	6: 17,097,441 (GRCm39)	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471 (GRCm39)	D290Y	probably damaging	Het
Tifab	T	A	13: 56,324,164 (GRCm39)	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,848,196 (GRCm39)		probably null	Het
Tnfrsf21	T	A	17: 43,396,265 (GRCm39)	S516R	probably benign	Het
Ttn	T	C	2: 76,606,389 (GRCm39)	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747 (GRCm39)	S3692T	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zfp113	T	C	5: 138,149,459 (GRCm39)		probably benign	Het
Zfp26	T	C	9: 20,348,921 (GRCm39)	T548A	probably benign	Het
Zfp870	C	T	17: 33,102,990 (GRCm39)	G114D	probably damaging	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
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
R3522:Cand1	UTSW	10	119,075,102 (GRCm39)	missense	probably benign	0.01
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

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