Mutagenetix > Incidental Mutation

Incidental Mutation 'R4627:Ube2c'

348838

Institutional Source

Beutler Lab

Gene Symbol

Ube2c

Ensembl Gene

ENSMUSG00000001403

Gene Name

ubiquitin-conjugating enzyme E2C

Synonyms

1110015A16Rik, D2Ertd695e

MMRRC Submission

041892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4627 (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: 99.3%
3x: 98.7%
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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,508,569 (GRCm39)	D314V	probably benign	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adamtsl2	T	A	2: 26,983,597 (GRCm39)	L331Q	probably damaging	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Aldoart1	T	C	4: 72,770,680 (GRCm39)	T43A	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ano7	T	C	1: 93,302,907 (GRCm39)	I15T	probably benign	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aox3	A	T	1: 58,164,194 (GRCm39)	T155S	probably damaging	Het
Ap2a1	C	T	7: 44,553,843 (GRCm39)	V535M	probably damaging	Het
Apbb2	C	T	5: 66,557,419 (GRCm39)		probably null	Het
Astn1	C	A	1: 158,329,821 (GRCm39)	H225Q	possibly damaging	Het
Atm	A	G	9: 53,367,806 (GRCm39)	I2439T	possibly damaging	Het
Atp1b2	T	A	11: 69,492,160 (GRCm39)	I263F	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Cep192	C	G	18: 67,945,440 (GRCm39)	P180R	probably benign	Het
Cfap46	T	C	7: 139,237,197 (GRCm39)	Y571C	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chchd6	G	A	6: 89,361,642 (GRCm39)	L226F	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cobl	T	C	11: 12,201,093 (GRCm39)	E1214G	probably damaging	Het
Cpsf2	G	A	12: 101,956,154 (GRCm39)	R319Q	probably benign	Het
Csdc2	T	C	15: 81,833,324 (GRCm39)	V107A	probably benign	Het
Csmd1	A	G	8: 16,747,933 (GRCm39)	W273R	probably benign	Het
Dnah2	T	A	11: 69,356,202 (GRCm39)	N2156I	probably damaging	Het
Dsp	A	G	13: 38,352,617 (GRCm39)	Y165C	probably benign	Het
Exoc1	T	C	5: 76,690,075 (GRCm39)	V205A	probably benign	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fbln2	G	T	6: 91,236,749 (GRCm39)	V755L	probably damaging	Het
Fhad1	A	T	4: 141,623,779 (GRCm39)	V1371D	possibly damaging	Het
Folh1	A	T	7: 86,422,460 (GRCm39)	M59K	probably benign	Het
Foxf2	A	T	13: 31,810,871 (GRCm39)	H270L	probably benign	Het
Gm14401	G	A	2: 176,778,109 (GRCm39)	R65H	probably benign	Het
Gpn1	C	A	5: 31,655,737 (GRCm39)	Y592*	probably null	Het
Hmcn1	T	G	1: 150,471,645 (GRCm39)	D4903A	probably benign	Het
Hnf1a	T	C	5: 115,093,930 (GRCm39)	R220G	probably damaging	Het
Hoxd10	G	A	2: 74,522,636 (GRCm39)	A105T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	C	T	12: 25,107,041 (GRCm39)	T1498I	possibly damaging	Het
Klhl2	G	T	8: 65,211,225 (GRCm39)	Y274*	probably null	Het
Lmbrd1	A	G	1: 24,745,080 (GRCm39)	Y140C	probably damaging	Het
Mapk8ip3	G	A	17: 25,122,267 (GRCm39)	T706I	probably benign	Het
Mast4	A	C	13: 103,470,529 (GRCm39)	S58A	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mmachc	A	T	4: 116,560,668 (GRCm39)	S276T	probably damaging	Het
Nfat5	A	T	8: 108,095,908 (GRCm39)	Q1289L	probably damaging	Het
Nlrc4	G	T	17: 74,753,623 (GRCm39)	F253L	probably damaging	Het
Nr1i3	C	A	1: 171,044,014 (GRCm39)	A112E	probably benign	Het
Or10ac1	T	A	6: 42,515,375 (GRCm39)	T194S	possibly damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or2b28	T	C	13: 21,531,634 (GRCm39)	F179L	probably damaging	Het
Or7g33	G	T	9: 19,448,969 (GRCm39)	Q86K	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pde10a	A	C	17: 9,200,484 (GRCm39)	D779A	probably damaging	Het
Pde4b	T	C	4: 102,458,802 (GRCm39)	L486S	probably damaging	Het
Pex2	A	T	3: 5,626,341 (GRCm39)	I156N	probably damaging	Het
Phtf2	C	T	5: 20,978,738 (GRCm39)	R63Q	probably damaging	Het
Prag1	A	G	8: 36,570,446 (GRCm39)	Y343C	probably damaging	Het
Prdm16	A	T	4: 154,451,697 (GRCm39)	Y170N	probably damaging	Het
Prpf6	A	C	2: 181,243,267 (GRCm39)	K5T	probably damaging	Het
Ptpn1	A	G	2: 167,809,701 (GRCm39)	K103R	probably benign	Het
Ralgapa2	A	G	2: 146,203,373 (GRCm39)	S1159P	possibly damaging	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Ripk4	A	T	16: 97,545,226 (GRCm39)	S474T	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Sec16a	A	G	2: 26,319,405 (GRCm39)	V1491A	probably damaging	Het
Sec16a	C	T	2: 26,321,080 (GRCm39)		probably null	Het
Setd7	G	T	3: 51,450,086 (GRCm39)	N113K	probably damaging	Het
Shank2	C	T	7: 143,965,161 (GRCm39)	T1502M	probably damaging	Het
Skor1	A	T	9: 63,052,758 (GRCm39)	C376S	probably damaging	Het
Slc12a3	A	T	8: 95,056,012 (GRCm39)	L49F	probably benign	Het
Slc35d3	C	T	10: 19,725,077 (GRCm39)	V260M	probably damaging	Het
Slc46a1	T	A	11: 78,357,715 (GRCm39)	V256E	probably benign	Het
Slc6a1	T	C	6: 114,285,067 (GRCm39)	S127P	probably benign	Het
Syngr4	A	G	7: 45,536,452 (GRCm39)	L190P	probably damaging	Het
Tagap	G	A	17: 8,145,773 (GRCm39)		probably null	Het
Tamm41	A	T	6: 115,011,963 (GRCm39)	N89K	probably benign	Het
Tbc1d31	T	A	15: 57,831,308 (GRCm39)	M922K	probably benign	Het
Tbk1	T	C	10: 121,403,985 (GRCm39)	N254S	possibly damaging	Het
Tfec	A	G	6: 16,840,478 (GRCm39)	S140P	probably damaging	Het
Tnrc18	T	C	5: 142,725,883 (GRCm39)	E1802G	unknown	Het
Tom1l2	C	T	11: 60,133,533 (GRCm39)		probably null	Het
Tonsl	T	G	15: 76,521,424 (GRCm39)	K323Q	probably damaging	Het
Tsnaxip1	A	T	8: 106,568,039 (GRCm39)	E268D	probably damaging	Het
Ttf1	C	A	2: 28,955,172 (GRCm39)	H179N	possibly damaging	Het
Ttn	T	C	2: 76,556,517 (GRCm39)	S30163G	probably damaging	Het
Ugt1a10	G	A	1: 88,146,112 (GRCm39)	R519Q	probably damaging	Het
Utp25	T	C	1: 192,790,003 (GRCm39)	T719A	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vwa8	G	A	14: 79,341,137 (GRCm39)		probably null	Het
Zfp9	A	G	6: 118,441,937 (GRCm39)	Y242H	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
R4628:Ube2c	UTSW	2	164,614,093 (GRCm39)	missense	possibly damaging	0.73
R4629: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'- TGGTCTGCACTATATGATGTCAGG -3'
(R):5'- TGGTGGTTTCCAGAGTCCAG -3'

Sequencing Primer
(F):5'- ATGATGTCAGGACTATCTTGCTC -3'
(R):5'- TTTCCAGAGTCCAGGGAAGGATC -3'

Posted On

2015-10-08