Mutagenetix > Incidental Mutation

Incidental Mutation 'R5228:Ube2m'

402732

Institutional Source

Beutler Lab

Gene Symbol

Ube2m

Ensembl Gene

ENSMUSG00000005575

Gene Name

ubiquitin-conjugating enzyme E2M

Synonyms

Ubc-rs2, UBC12, 2510040H03Rik

MMRRC Submission

042801-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12769047-12772202 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 12769697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005705] [ENSMUST00000005711] [ENSMUST00000005714] [ENSMUST00000125964] [ENSMUST00000211369] [ENSMUST00000210587] [ENSMUST00000211626] [ENSMUST00000211344] [ENSMUST00000165394]

AlphaFold

P61082

Predicted Effect

probably benign
Transcript: ENSMUST00000005705

SMART Domains

Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566

Domain	Start	End	E-Value	Type
low complexity region	2	34	N/A	INTRINSIC
low complexity region	37	57	N/A	INTRINSIC
RING	66	121	1.2e-7	SMART
BBOX	149	196	2.97e-12	SMART
BBOX	205	246	1.11e-11	SMART
BBC	253	379	7.92e-39	SMART
low complexity region	420	432	N/A	INTRINSIC
low complexity region	525	551	N/A	INTRINSIC
low complexity region	555	576	N/A	INTRINSIC
PHD	627	670	2.16e-9	SMART
RING	628	669	8.32e0	SMART
BROMO	697	801	6.5e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000005711

SMART Domains

Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916

Domain	Start	End	E-Value	Type
Pfam:Snf7	17	187	9.5e-50	PFAM
coiled coil region	196	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000005714

SMART Domains

Protein: ENSMUSP00000005714
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
UBCc	32	173	8.83e-38	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000123541
AA Change: H120Q

SMART Domains

Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575
AA Change: H120Q

Domain	Start	End	E-Value	Type
UBCc	1	162	2.43e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123778

Predicted Effect

probably benign
Transcript: ENSMUST00000125964

SMART Domains

Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
UBCc	20	161	3.67e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126827

Predicted Effect

probably benign
Transcript: ENSMUST00000211369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131837

Predicted Effect

probably benign
Transcript: ENSMUST00000210587

Predicted Effect

probably benign
Transcript: ENSMUST00000211626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209487

Predicted Effect

probably benign
Transcript: ENSMUST00000211344

Predicted Effect

probably benign
Transcript: ENSMUST00000165394

SMART Domains

Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
UBCc	2	76	4.51e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156389

SMART Domains

Protein: ENSMUSP00000117123
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
PDB:2NVU\|C	69	138	4e-38	PDB
SCOP:d2e2c__	83	136	2e-8	SMART
Blast:UBCc	92	138	4e-27	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,303,545 (GRCm39)		probably null	Het
Agrn	G	T	4: 156,251,403 (GRCm39)	A1864D	probably damaging	Het
Ahnak2	A	G	12: 112,741,820 (GRCm39)	S751P	probably benign	Het
Aifm2	T	C	10: 61,568,196 (GRCm39)	V201A	probably damaging	Het
C1rl	C	T	6: 124,485,427 (GRCm39)	A266V	probably damaging	Het
Clec2h	G	T	6: 128,651,749 (GRCm39)	A153S	probably benign	Het
Dnah7a	T	C	1: 53,476,768 (GRCm39)		probably null	Het
Frmpd1	T	C	4: 45,284,322 (GRCm39)	S1048P	probably damaging	Het
Galnt16	A	T	12: 80,630,822 (GRCm39)	D300V	probably damaging	Het
Gbp8	G	T	5: 105,164,051 (GRCm39)	Q416K	probably benign	Het
Gldn	C	T	9: 54,242,003 (GRCm39)	T319I	probably damaging	Het
Gli2	T	A	1: 118,763,936 (GRCm39)	D1405V	probably damaging	Het
Gtsf2	A	G	15: 103,353,042 (GRCm39)	Y45H	probably damaging	Het
Hmcn1	C	A	1: 150,522,452 (GRCm39)	V3483F	probably benign	Het
Hspa12b	T	C	2: 130,984,884 (GRCm39)	V385A	possibly damaging	Het
Ibtk	T	C	9: 85,608,742 (GRCm39)	E390G	possibly damaging	Het
Inpp4b	C	G	8: 82,494,744 (GRCm39)	P53R	probably damaging	Het
Ipo7	T	A	7: 109,645,969 (GRCm39)	C504S	probably benign	Het
Iws1	A	G	18: 32,221,314 (GRCm39)	D549G	probably damaging	Het
Kcnh4	T	C	11: 100,637,722 (GRCm39)	D645G	probably damaging	Het
Klhl40	A	G	9: 121,606,867 (GRCm39)	E9G	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Morc2a	T	C	11: 3,635,439 (GRCm39)	V810A	probably damaging	Het
Myo1e	C	A	9: 70,229,640 (GRCm39)		probably null	Het
N4bp2	T	C	5: 65,964,861 (GRCm39)	V970A	probably benign	Het
Pira2	T	A	7: 3,847,373 (GRCm39)	K105N	probably benign	Het
Pml	G	A	9: 58,127,280 (GRCm39)	R61C	probably damaging	Het
Pms2	T	C	5: 143,860,415 (GRCm39)	L76P	probably damaging	Het
Rlbp1	T	G	7: 79,027,082 (GRCm39)	T193P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGG	11: 3,103,384 (GRCm39)		probably benign	Homo
Sh3rf2	T	C	18: 42,286,246 (GRCm39)	S548P	possibly damaging	Het
Slc4a4	A	G	5: 89,304,384 (GRCm39)	D609G	possibly damaging	Het
Slk	A	T	19: 47,613,771 (GRCm39)	I876F	probably damaging	Het
Tcf20	G	A	15: 82,740,156 (GRCm39)	P432S	probably benign	Het
Tenm3	A	C	8: 48,689,390 (GRCm39)	S2066A	probably damaging	Het
Topors	G	C	4: 40,262,367 (GRCm39)	L306V	probably damaging	Het
Trappc9	A	T	15: 72,929,844 (GRCm39)	S171T	probably damaging	Het
Vmn1r37	T	C	6: 66,709,282 (GRCm39)	*266Q	probably null	Het
Vmn2r34	T	C	7: 7,675,340 (GRCm39)	T683A	probably damaging	Het

Other mutations in Ube2m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03100:Ube2m	APN	7	12,771,562 (GRCm39)	missense	probably benign	0.37
IGL03304:Ube2m	APN	7	12,769,685 (GRCm39)	unclassified	probably benign
R0077:Ube2m	UTSW	7	12,769,657 (GRCm39)	missense	probably damaging	1.00
R0715:Ube2m	UTSW	7	12,771,553 (GRCm39)	missense	probably benign	0.01
R0733:Ube2m	UTSW	7	12,769,679 (GRCm39)	missense	probably damaging	0.98
R1460:Ube2m	UTSW	7	12,769,762 (GRCm39)	unclassified	probably benign
R5207:Ube2m	UTSW	7	12,770,249 (GRCm39)	splice site	probably null
R6226:Ube2m	UTSW	7	12,769,815 (GRCm39)	missense	probably damaging	1.00
R6299:Ube2m	UTSW	7	12,769,797 (GRCm39)	missense	probably damaging	1.00
R6591:Ube2m	UTSW	7	12,770,396 (GRCm39)	missense	probably damaging	0.99
R6594:Ube2m	UTSW	7	12,771,617 (GRCm39)	nonsense	probably null
R6691:Ube2m	UTSW	7	12,770,396 (GRCm39)	missense	probably damaging	0.99
R8029:Ube2m	UTSW	7	12,770,524 (GRCm39)	missense	probably damaging	1.00
R8036:Ube2m	UTSW	7	12,769,566 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGGGATGGGTAATTGCTAAC -3'
(R):5'- GGGCCTAACCTGTTCAGTATTAG -3'

Sequencing Primer
(F):5'- GGGTAATTGCTAACCCTATTTCAGGC -3'
(R):5'- AACCTGTTCAGTATTAGCAGGGCC -3'

Posted On

2016-07-22