Mutagenetix > Incidental Mutation

Incidental Mutation 'R7044:Ube2k'

547204

Institutional Source

Beutler Lab

Gene Symbol

Ube2k

Ensembl Gene

ENSMUSG00000029203

Gene Name

ubiquitin-conjugating enzyme E2K

Synonyms

D5Ertd601e, Hip2

MMRRC Submission

045143-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65694588-65756332 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65738772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 36 (V36A)

Ref Sequence

ENSEMBL: ENSMUSP00000143941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000142407] [ENSMUST00000200946] [ENSMUST00000201266] [ENSMUST00000201292] [ENSMUST00000201383] [ENSMUST00000201984] [ENSMUST00000202082] [ENSMUST00000202601] [ENSMUST00000202679]

AlphaFold

P61087

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142407
AA Change: V87A

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122471
Gene: ENSMUSG00000029203
AA Change: V87A

Domain	Start	End	E-Value	Type
UBCc	7	154	7.7e-70	SMART
UBA	162	199	3.1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200946

SMART Domains

Protein: ENSMUSP00000144308
Gene: ENSMUSG00000029203

Domain	Start	End	E-Value	Type
Pfam:UQ_con	1	46	6.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201266

SMART Domains

Protein: ENSMUSP00000144192
Gene: ENSMUSG00000029203

Domain	Start	End	E-Value	Type
UBCc	7	93	5.86e-4	SMART
UBA	101	138	3.1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201292

SMART Domains

Protein: ENSMUSP00000144060
Gene: ENSMUSG00000029203

Domain	Start	End	E-Value	Type
Pfam:UQ_con	1	46	1.4e-9	PFAM
UBA	59	96	3.1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201383
AA Change: V87A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000144580
Gene: ENSMUSG00000029203
AA Change: V87A

Domain	Start	End	E-Value	Type
UBCc	7	146	2.73e-52	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201984
AA Change: V36A

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143941
Gene: ENSMUSG00000029203
AA Change: V36A

Domain	Start	End	E-Value	Type
UBCc	7	103	9.94e-23	SMART
UBA	111	148	3.1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202082

SMART Domains

Protein: ENSMUSP00000144428
Gene: ENSMUSG00000029203

Domain	Start	End	E-Value	Type
Pfam:UQ_con	1	46	1.4e-9	PFAM
UBA	59	96	3.1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202601

SMART Domains

Protein: ENSMUSP00000144619
Gene: ENSMUSG00000029203

Domain	Start	End	E-Value	Type
Pfam:UQ_con	8	57	9.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202679

SMART Domains

Protein: ENSMUSP00000144366
Gene: ENSMUSG00000029203

Domain	Start	End	E-Value	Type
Pfam:UQ_con	1	46	1.4e-9	PFAM
UBA	59	96	3.1e-11	SMART

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit resistance to amyloid-beta neurotoxicity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	A	4: 32,815,260 (GRCm39)	Q448L	possibly damaging	Het
Appl1	A	G	14: 26,650,634 (GRCm39)	S513P	possibly damaging	Het
Cdhr2	A	T	13: 54,881,134 (GRCm39)	K1066*	probably null	Het
Ckap5	T	C	2: 91,407,946 (GRCm39)	I824T	probably benign	Het
Cracdl	C	T	1: 37,651,361 (GRCm39)	D1169N	possibly damaging	Het
Ctbp2	T	C	7: 132,616,831 (GRCm39)	R35G	possibly damaging	Het
Dcdc2c	T	C	12: 28,520,493 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,301,634 (GRCm39)		probably null	Het
Fat4	G	C	3: 39,064,959 (GRCm39)	A4972P	probably benign	Het
Fat4	C	T	3: 39,064,960 (GRCm39)	A4972V	probably benign	Het
Fbxl8	T	A	8: 105,993,647 (GRCm39)	M1K	probably null	Het
Glyat	T	C	19: 12,627,629 (GRCm39)	S75P	probably benign	Het
Gm3543	T	A	14: 41,802,023 (GRCm39)	I154F	probably damaging	Het
Gm4565	T	A	7: 22,282,795 (GRCm39)	M8L	probably benign	Het
Gpr179	T	C	11: 97,240,616 (GRCm39)	Q269R	probably benign	Het
Hjv	C	A	3: 96,434,790 (GRCm39)	H176Q	possibly damaging	Het
Ikzf2	T	C	1: 69,578,060 (GRCm39)	H483R	possibly damaging	Het
Il25	G	A	14: 55,170,615 (GRCm39)	A63T	probably benign	Het
Krt27	T	A	11: 99,237,640 (GRCm39)	N366I	probably benign	Het
Mfge8	A	G	7: 78,792,268 (GRCm39)	V219A	probably benign	Het
Nrbp1	T	C	5: 31,407,290 (GRCm39)	V373A	probably damaging	Het
Or4c100	A	G	2: 88,356,830 (GRCm39)	N301S	probably benign	Het
Otulinl	A	G	15: 27,657,321 (GRCm39)		probably benign	Het
Pcdh20	A	G	14: 88,706,607 (GRCm39)	I231T	probably damaging	Het
Pfkp	A	G	13: 6,631,603 (GRCm39)	W151R	probably damaging	Het
Pikfyve	T	C	1: 65,286,013 (GRCm39)	I1084T	probably benign	Het
Poteg	T	C	8: 27,939,923 (GRCm39)	C27R	probably damaging	Het
Ptprz1	G	A	6: 23,044,345 (GRCm39)	V1266M	probably damaging	Het
Rpa1	T	C	11: 75,203,628 (GRCm39)	D358G	probably damaging	Het
Slx9	T	C	10: 77,350,226 (GRCm39)	D35G	possibly damaging	Het
Snapc4	A	G	2: 26,259,965 (GRCm39)	S495P	probably damaging	Het
Surf6	A	G	2: 26,789,368 (GRCm39)	I123T	probably damaging	Het
Sybu	A	T	15: 44,541,091 (GRCm39)	S324T	possibly damaging	Het
Trim3	A	T	7: 105,267,421 (GRCm39)	S319R	probably damaging	Het
Trmt11	A	G	10: 30,466,930 (GRCm39)	F72L	probably benign	Het
Tsks	C	T	7: 44,593,216 (GRCm39)	R61W	probably damaging	Het
Ube3a	T	C	7: 58,938,161 (GRCm39)	V688A	probably damaging	Het
Vegfc	A	G	8: 54,610,080 (GRCm39)	K79E	possibly damaging	Het
Vmn1r77	G	A	7: 11,775,761 (GRCm39)	R179Q	probably benign	Het
Vmn2r97	T	A	17: 19,134,629 (GRCm39)	F16I	probably benign	Het
Zfp451	A	T	1: 33,841,248 (GRCm39)		probably benign	Het
Zfp600	C	T	4: 146,131,892 (GRCm39)	Q187*	probably null	Het

Other mutations in Ube2k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0733:Ube2k	UTSW	5	65,738,795 (GRCm39)	missense	probably damaging	0.99
R2129:Ube2k	UTSW	5	65,752,269 (GRCm39)	missense	probably damaging	0.97
R5752:Ube2k	UTSW	5	65,723,411 (GRCm39)	missense	probably damaging	1.00
R9224:Ube2k	UTSW	5	65,751,847 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGGTTTGCACCTTAC -3'
(R):5'- CAAAACAACTTTGGACATCTCTTGC -3'

Sequencing Primer
(F):5'- GGTTTGCACCTTACTATCATTTAATG -3'
(R):5'- AGCTTTCTAACAAAGAAGGA -3'

Posted On

2019-05-13