Mutagenetix > Incidental Mutation

Incidental Mutation 'R6691:Ube2m'

530413

Institutional Source

Beutler Lab

Gene Symbol

Ube2m

Ensembl Gene

ENSMUSG00000005575

Gene Name

ubiquitin-conjugating enzyme E2M

Synonyms

Ubc-rs2, UBC12, 2510040H03Rik

MMRRC Submission

044809-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6691 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12769047-12772202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12770396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 70 (F70I)

Ref Sequence

ENSEMBL: ENSMUSP00000005714 (fasta)

Gene Model

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

AlphaFold

P61082

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 damaging
Transcript: ENSMUST00000005714
AA Change: F70I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005714
Gene: ENSMUSG00000005575
AA Change: F70I

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

Predicted Effect

unknown
Transcript: ENSMUST00000123541
AA Change: F29I

SMART Domains

Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575
AA Change: F29I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125964
AA Change: F58I

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575
AA Change: F58I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138357

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

probably benign
Transcript: ENSMUST00000211344

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209487

Predicted Effect

probably benign
Transcript: ENSMUST00000210587

Predicted Effect

probably benign
Transcript: ENSMUST00000211626

Meta Mutation Damage Score

0.2459

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

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, 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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300009A05Rik	A	G	9: 63,306,236 (GRCm39)	Y90H	probably damaging	Het
Agk	A	G	6: 40,369,624 (GRCm39)	D337G	probably benign	Het
Amn	A	G	12: 111,241,831 (GRCm39)	H299R	possibly damaging	Het
Angptl4	A	G	17: 33,999,755 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,730,463 (GRCm39)	M563I	possibly damaging	Het
Cachd1	T	C	4: 100,846,683 (GRCm39)	M1042T	probably benign	Het
Calcoco2	A	G	11: 95,990,934 (GRCm39)	S247P	unknown	Het
Cd209c	T	A	8: 3,995,680 (GRCm39)	I41L	probably benign	Het
Ceacam12	T	A	7: 17,803,149 (GRCm39)	V185D	possibly damaging	Het
Chpt1	A	T	10: 88,321,762 (GRCm39)		probably benign	Het
Clca3a1	G	C	3: 144,719,644 (GRCm39)	A442G	probably damaging	Het
Cldn8	T	C	16: 88,359,423 (GRCm39)	I167M	possibly damaging	Het
Cln3	A	G	7: 126,178,606 (GRCm39)	V143A	possibly damaging	Het
Dusp11	T	C	6: 85,938,507 (GRCm39)	H4R	possibly damaging	Het
Ephb3	T	A	16: 21,033,223 (GRCm39)	F69Y	probably damaging	Het
Gm11099	A	T	2: 58,749,485 (GRCm39)		probably benign	Het
Grik2	A	T	10: 49,149,021 (GRCm39)	Y521*	probably null	Het
Igf2r	A	G	17: 12,907,895 (GRCm39)	L2143P	probably damaging	Het
Kcnk1	T	C	8: 126,751,970 (GRCm39)	V192A	probably benign	Het
Or4a81	A	T	2: 89,619,332 (GRCm39)	Y121*	probably null	Het
Or8k53	A	C	2: 86,177,763 (GRCm39)	S116A	probably damaging	Het
Parp3	A	G	9: 106,350,891 (GRCm39)	S329P	probably benign	Het
Pld3	A	T	7: 27,231,741 (GRCm39)	N483K	probably benign	Het
Rbm33	A	T	5: 28,557,544 (GRCm39)	E252D	probably damaging	Het
Ryr2	T	C	13: 11,609,609 (GRCm39)	T4406A	probably benign	Het
Sgsm3	A	G	15: 80,893,063 (GRCm39)	D380G	possibly damaging	Het
Sorl1	G	T	9: 41,913,863 (GRCm39)	D1355E	probably damaging	Het
Sptbn1	A	G	11: 30,063,984 (GRCm39)	S1945P	probably damaging	Het
Ube3b	A	G	5: 114,546,185 (GRCm39)	I664V	probably benign	Het
Ugt1a7c	A	G	1: 88,023,378 (GRCm39)	E179G	possibly damaging	Het
Vps50	T	C	6: 3,504,939 (GRCm39)		probably null	Het
Xpo1	T	C	11: 23,236,875 (GRCm39)	L718P	probably damaging	Het
Zfp354c	A	G	11: 50,705,602 (GRCm39)	I491T	probably benign	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
R5228:Ube2m	UTSW	7	12,769,697 (GRCm39)	unclassified	probably benign
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
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'- AGGTCAATGTTGGGATGATAAACC -3'
(R):5'- TGCCCAAGACGTGTGACATC -3'

Sequencing Primer
(F):5'- GTTTCACACTTCACCTTGGGAG -3'
(R):5'- AGACGTGTGACATCAGCTTC -3'

Posted On

2018-08-01