Mutagenetix > Incidental Mutation

Incidental Mutation 'R4629:Ube2c'

349007

Institutional Source

Beutler Lab

Gene Symbol

Ube2c

Ensembl Gene

ENSMUSG00000001403

Gene Name

ubiquitin-conjugating enzyme E2C

Synonyms

1110015A16Rik, D2Ertd695e

MMRRC Submission

041894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164611849-164614822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164614093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 143 (N143S)

Ref Sequence

ENSEMBL: ENSMUSP00000001439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001439] [ENSMUST00000017443] [ENSMUST00000088248] [ENSMUST00000103095]

AlphaFold

Q9D1C1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001439
AA Change: N143S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001439
Gene: ENSMUSG00000001403
AA Change: N143S

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
UBCc	33	170	8.8e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000017443

SMART Domains

Protein: ENSMUSP00000017443
Gene: ENSMUSG00000017299

Domain	Start	End	E-Value	Type
low complexity region	10	30	N/A	INTRINSIC
Blast:UBCc	91	157	4e-16	BLAST
low complexity region	158	172	N/A	INTRINSIC
Blast:UBCc	248	287	1e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000088248
AA Change: N143S

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085581
Gene: ENSMUSG00000001403
AA Change: N143S

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
UBCc	33	175	1.88e-64	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103095

SMART Domains

Protein: ENSMUSP00000099384
Gene: ENSMUSG00000017300

Domain	Start	End	E-Value	Type
EFh	19	47	2.44e-5	SMART
EFh	55	83	8.31e-8	SMART
EFh	95	123	2.01e-6	SMART
EFh	131	159	8.06e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146846

Meta Mutation Damage Score

0.7687

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,108,419 (GRCm39)		noncoding transcript	Het
Abca6	T	C	11: 110,121,375 (GRCm39)		probably null	Het
Adam22	A	G	5: 8,282,663 (GRCm39)	S111P	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alg10b	C	T	15: 90,111,948 (GRCm39)	A264V	probably benign	Het
Angpt1	T	A	15: 42,301,796 (GRCm39)	Y404F	probably benign	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Asic5	T	A	3: 81,913,811 (GRCm39)	Y162N	probably damaging	Het
Cacna2d2	A	T	9: 107,404,521 (GRCm39)	E1104V	probably damaging	Het
Cad	G	A	5: 31,227,639 (GRCm39)	V1263I	probably damaging	Het
Cdc20	T	C	4: 118,290,761 (GRCm39)	E413G	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cubn	T	A	2: 13,318,790 (GRCm39)		probably null	Het
Cx3cr1	T	C	9: 119,880,730 (GRCm39)	N224S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fez2	C	T	17: 78,710,183 (GRCm39)	S202N	probably benign	Het
Fras1	A	G	5: 96,924,593 (GRCm39)	N3678S	probably benign	Het
Glyr1	A	G	16: 4,854,907 (GRCm39)	V57A	possibly damaging	Het
Gm5617	T	A	9: 48,407,187 (GRCm39)	L107Q	possibly damaging	Het
Gpnmb	A	G	6: 49,027,994 (GRCm39)	D401G	possibly damaging	Het
Gtpbp6	C	A	5: 110,254,774 (GRCm39)	V100L	possibly damaging	Het
Gucy1a1	A	G	3: 82,004,931 (GRCm39)	V618A	probably damaging	Het
H6pd	A	T	4: 150,080,803 (GRCm39)	M14K	probably benign	Het
Hectd4	A	G	5: 121,435,266 (GRCm39)	M993V	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama1	A	G	17: 68,112,355 (GRCm39)		probably null	Het
Lgr6	T	C	1: 135,032,670 (GRCm39)	Y70C	probably damaging	Het
Lipg	T	A	18: 75,081,107 (GRCm39)	K325*	probably null	Het
Lrrc43	T	C	5: 123,637,583 (GRCm39)	L250P	probably damaging	Het
Lyz1	C	T	10: 117,127,041 (GRCm39)	R65H	probably benign	Het
Marchf10	T	A	11: 105,280,664 (GRCm39)	L540F	probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Myh1	A	G	11: 67,100,119 (GRCm39)	K646R	probably benign	Het
Nf2	A	T	11: 4,798,915 (GRCm39)	V24E	probably damaging	Het
Nup210l	T	C	3: 90,075,182 (GRCm39)	S831P	probably benign	Het
Nup210l	C	T	3: 90,098,181 (GRCm39)	R1378*	probably null	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Palb2	A	C	7: 121,727,189 (GRCm39)	I227S	possibly damaging	Het
Pate3	A	T	9: 35,557,453 (GRCm39)	C68S	probably damaging	Het
Pcdha12	T	A	18: 37,154,926 (GRCm39)	N548K	probably damaging	Het
Prdm10	C	T	9: 31,248,612 (GRCm39)	Q345*	probably null	Het
Ptx4	A	T	17: 25,341,737 (GRCm39)	N71Y	probably damaging	Het
Rab42	C	T	4: 132,030,548 (GRCm39)	R34Q	probably benign	Het
Rergl	A	G	6: 139,478,850 (GRCm39)	V8A	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rpia	A	G	6: 70,743,578 (GRCm39)	M291T	possibly damaging	Het
Rplp0	G	A	5: 115,699,482 (GRCm39)		probably null	Het
Rrp12	A	T	19: 41,871,955 (GRCm39)	I443N	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Saxo1	T	C	4: 86,406,064 (GRCm39)	Y45C	probably damaging	Het
Sec24a	A	T	11: 51,612,640 (GRCm39)		probably null	Het
Setdb2	A	G	14: 59,646,808 (GRCm39)	V585A	probably benign	Het
Sik1	T	C	17: 32,068,581 (GRCm39)	E347G	probably benign	Het
Srbd1	T	C	17: 86,428,100 (GRCm39)	T378A	probably damaging	Het
Tacr1	A	G	6: 82,380,861 (GRCm39)	T91A	probably benign	Het
Tas2r135	T	A	6: 42,383,160 (GRCm39)	M233K	probably benign	Het
Tfg	A	T	16: 56,533,039 (GRCm39)	M40K	probably damaging	Het
Tmem35b	C	T	4: 127,022,796 (GRCm39)	P133S	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Trpv3	A	T	11: 73,172,615 (GRCm39)	K253N	probably damaging	Het
Unc13a	A	G	8: 72,106,097 (GRCm39)	M669T	possibly damaging	Het
Vmn1r61	T	A	7: 5,614,249 (GRCm39)	I22F	probably benign	Het
Vmn2r26	A	T	6: 124,038,150 (GRCm39)	Q575L	possibly damaging	Het
Vmn2r81	A	T	10: 79,103,276 (GRCm39)	E156D	probably damaging	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wasl	T	C	6: 24,637,680 (GRCm39)	R71G	probably damaging	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfp827	G	A	8: 79,787,011 (GRCm39)	R59Q	probably damaging	Het
Zfp87	A	G	13: 74,520,512 (GRCm39)	C189R	probably damaging	Het

Other mutations in Ube2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Ube2c	APN	2	164,613,213 (GRCm39)	missense	probably benign	0.00
IGL01619:Ube2c	APN	2	164,613,232 (GRCm39)	missense	probably damaging	1.00
R1726:Ube2c	UTSW	2	164,613,237 (GRCm39)	missense	probably damaging	1.00
R1748:Ube2c	UTSW	2	164,613,241 (GRCm39)	missense	probably damaging	1.00
R1854:Ube2c	UTSW	2	164,613,282 (GRCm39)	missense	probably damaging	0.99
R1864:Ube2c	UTSW	2	164,611,943 (GRCm39)	missense	probably benign	0.13
R4624:Ube2c	UTSW	2	164,614,093 (GRCm39)	missense	possibly damaging	0.73
R4627:Ube2c	UTSW	2	164,614,093 (GRCm39)	missense	possibly damaging	0.73
R4628:Ube2c	UTSW	2	164,614,093 (GRCm39)	missense	possibly damaging	0.73
R4810:Ube2c	UTSW	2	164,614,482 (GRCm39)	makesense	probably null
R5294:Ube2c	UTSW	2	164,619,110 (GRCm39)	missense	probably benign
R7763:Ube2c	UTSW	2	164,613,211 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCAAGGATAAGTGGTCTGC -3'
(R):5'- TTCCAGAGTCCAGGGAAGGATC -3'

Sequencing Primer
(F):5'- GTCTGCACTATATGATGTCAGGAC -3'
(R):5'- CCAGGGAAGGATCAGGAGATATATTC -3'

Posted On

2015-10-08