Mutagenetix > Incidental Mutation

Incidental Mutation 'R6226:Ube2m'

504335

Institutional Source

Beutler Lab

Gene Symbol

Ube2m

Ensembl Gene

ENSMUSG00000005575

Gene Name

ubiquitin-conjugating enzyme E2M

Synonyms

Ubc-rs2, UBC12, 2510040H03Rik

MMRRC Submission

044397-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6226 (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 G at 12769815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 110 (V110A)

Ref Sequence

ENSEMBL: ENSMUSP00000122638 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000005714
AA Change: V122A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005714
Gene: ENSMUSG00000005575
AA Change: V122A

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

Predicted Effect

unknown
Transcript: ENSMUST00000123541
AA Change: V81A

SMART Domains

Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575
AA Change: V81A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123778

Predicted Effect

probably damaging
Transcript: ENSMUST00000125964
AA Change: V110A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575
AA Change: V110A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126827

Predicted Effect

probably damaging
Transcript: ENSMUST00000165394
AA Change: V25A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575
AA Change: V25A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131837

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

probably benign
Transcript: ENSMUST00000210587

Predicted Effect

probably benign
Transcript: ENSMUST00000211626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209487

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,293,853 (GRCm39)	T62A	probably benign	Het
Adam33	G	A	2: 130,897,530 (GRCm39)	T265I	probably damaging	Het
Afap1l2	T	C	19: 56,904,560 (GRCm39)	T654A	probably benign	Het
Agrn	A	G	4: 156,258,066 (GRCm39)	S992P	probably damaging	Het
Anapc1	A	G	2: 128,492,292 (GRCm39)	F939L	probably damaging	Het
Anks1	G	A	17: 28,276,304 (GRCm39)	V1016I	probably benign	Het
Ankzf1	A	G	1: 75,173,238 (GRCm39)	T401A	probably benign	Het
Atad1	G	T	19: 32,678,987 (GRCm39)	D105E	probably benign	Het
Carmil2	A	G	8: 106,415,664 (GRCm39)	T313A	possibly damaging	Het
Cdk15	T	C	1: 59,304,792 (GRCm39)	V131A	probably damaging	Het
Cldnd1	A	T	16: 58,551,663 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,948,882 (GRCm39)		probably benign	Het
Cts3	T	A	13: 61,716,535 (GRCm39)	I34L	probably benign	Het
Dnah7b	A	C	1: 46,165,828 (GRCm39)	K498Q	probably benign	Het
Dnase2b	A	G	3: 146,290,318 (GRCm39)	Y218H	probably benign	Het
Dsg2	T	A	18: 20,712,506 (GRCm39)	V170D	probably damaging	Het
Dst	T	C	1: 34,309,955 (GRCm39)	V1543A	probably damaging	Het
Ell3	A	T	2: 121,272,258 (GRCm39)	I72K	probably damaging	Het
Fank1	A	G	7: 133,463,927 (GRCm39)	Y41C	probably benign	Het
Foxd3	T	C	4: 99,545,261 (GRCm39)	Y134H	probably damaging	Het
Frmd6	A	G	12: 70,910,685 (GRCm39)		probably benign	Het
Gale	A	G	4: 135,692,916 (GRCm39)	E53G	possibly damaging	Het
Glis3	A	G	19: 28,294,702 (GRCm39)	S699P	probably damaging	Het
Gm12830	T	A	4: 114,702,246 (GRCm39)	M136K	unknown	Het
Grik3	T	C	4: 125,553,582 (GRCm39)	V438A	probably benign	Het
Gsap	A	G	5: 21,422,429 (GRCm39)	N133D	probably damaging	Het
Gsg1	T	A	6: 135,217,110 (GRCm39)	D239V	probably damaging	Het
H2-T10	A	T	17: 36,431,975 (GRCm39)	W23R	probably damaging	Het
Itgae	A	G	11: 73,031,583 (GRCm39)	T1100A	probably benign	Het
Kcnh7	A	T	2: 62,607,903 (GRCm39)	F559L	probably damaging	Het
Kdm5b	G	T	1: 134,536,616 (GRCm39)	R612L	probably damaging	Het
Lrrc74a	T	A	12: 86,795,231 (GRCm39)	N253K	possibly damaging	Het
Mcm3ap	A	G	10: 76,351,540 (GRCm39)	H1961R	possibly damaging	Het
Ncam1	C	T	9: 49,476,304 (GRCm39)	E262K	probably benign	Het
Nckap1	A	G	2: 80,339,125 (GRCm39)	S968P	possibly damaging	Het
Nkapd1	T	C	9: 50,519,070 (GRCm39)	T181A	possibly damaging	Het
Nr2f2	T	G	7: 70,009,744 (GRCm39)	S112R	probably benign	Het
Nup93	T	C	8: 95,013,165 (GRCm39)	W137R	probably damaging	Het
Or10ag53	A	G	2: 87,082,736 (GRCm39)	S152G	probably benign	Het
Or2t26	A	G	11: 49,039,660 (GRCm39)	D192G	possibly damaging	Het
Or4a78	A	T	2: 89,497,333 (GRCm39)	L299H	probably damaging	Het
Or52n1	A	T	7: 104,383,243 (GRCm39)	F109L	probably damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Or8b55	T	C	9: 38,727,666 (GRCm39)	I289T	probably damaging	Het
Otogl	A	T	10: 107,607,067 (GRCm39)	Y2105*	probably null	Het
Pibf1	A	G	14: 99,338,555 (GRCm39)	S24G	probably damaging	Het
Pitx2	C	T	3: 129,009,491 (GRCm39)	R130W	probably damaging	Het
Pkd1l1	T	C	11: 8,851,287 (GRCm39)	N715S	probably benign	Het
Pou6f2	A	T	13: 18,303,739 (GRCm39)	I123N	possibly damaging	Het
Prss29	T	A	17: 25,539,513 (GRCm39)	H35Q	possibly damaging	Het
Ptpn21	A	G	12: 98,646,375 (GRCm39)	F1028L	probably benign	Het
Ptpn21	A	T	12: 98,681,431 (GRCm39)	Y68N	probably damaging	Het
Ptprk	A	G	10: 28,440,099 (GRCm39)	T856A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpl22l1	A	G	3: 28,860,676 (GRCm39)	T13A	possibly damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sec14l5	G	A	16: 4,994,429 (GRCm39)	V408I	probably damaging	Het
Serpina5	T	C	12: 104,068,037 (GRCm39)	S33P	possibly damaging	Het
Sgip1	A	G	4: 102,823,392 (GRCm39)	N524S	probably damaging	Het
Shkbp1	C	A	7: 27,051,405 (GRCm39)	R218M	probably null	Het
Sorcs1	T	A	19: 50,169,852 (GRCm39)	I970F	probably damaging	Het
Spg11	A	G	2: 121,918,743 (GRCm39)	V962A	possibly damaging	Het
Sptbn1	A	G	11: 30,086,054 (GRCm39)	M1205T	probably damaging	Het
Sufu	G	A	19: 46,462,093 (GRCm39)	V369M	probably damaging	Het
Tmem98	T	C	11: 80,712,220 (GRCm39)	F219S	probably benign	Het
Trim27	T	C	13: 21,365,086 (GRCm39)		probably benign	Het
Trim43b	T	C	9: 88,973,328 (GRCm39)	E135G	possibly damaging	Het
Ugt2b36	A	G	5: 87,239,989 (GRCm39)	V132A	probably damaging	Het
Usp36	A	T	11: 118,168,100 (GRCm39)	S86T	probably damaging	Het
Zfp941	A	T	7: 140,392,398 (GRCm39)	D320E	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
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'- ATTTTGTTCAAACAGCCGCCG -3'
(R):5'- ATGACCTGACCTTGGCTTTC -3'

Sequencing Primer
(F):5'- TTGTTCTGCAGGACCTCAGCAG -3'
(R):5'- ACCTGACCTTGGCTTTCTCTGTG -3'

Posted On

2018-02-28