Mutagenetix > Incidental Mutation

Incidental Mutation 'R5752:Ube2k'

444837

Institutional Source

Beutler Lab

Gene Symbol

Ube2k

Ensembl Gene

ENSMUSG00000029203

Gene Name

ubiquitin-conjugating enzyme E2K

Synonyms

D5Ertd601e, Hip2

MMRRC Submission

043357-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R5752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65694588-65756332 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65723411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 48 (D48G)

Ref Sequence

ENSEMBL: ENSMUSP00000144619 (fasta)

Gene Model

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

AlphaFold

P61087

Predicted Effect

probably damaging
Transcript: ENSMUST00000031105
AA Change: D48G

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

SMART Domains

Protein: ENSMUSP00000031105
Gene: ENSMUSG00000029203
AA Change: D48G

Domain	Start	End	E-Value	Type
Pfam:UQ_con	8	57	4.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131873
AA Change: T88A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142407
AA Change: D48G

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122471
Gene: ENSMUSG00000029203
AA Change: D48G

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
AA Change: D48G

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144192
Gene: ENSMUSG00000029203
AA Change: D48G

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: D48G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000144580
Gene: ENSMUSG00000029203
AA Change: D48G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202601
AA Change: D48G

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

SMART Domains

Protein: ENSMUSP00000144619
Gene: ENSMUSG00000029203
AA Change: D48G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202721

Predicted Effect

probably benign
Transcript: ENSMUST00000201984

SMART Domains

Protein: ENSMUSP00000143941
Gene: ENSMUSG00000029203

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: 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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (58/59)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330017A19Rik	C	A	17: 47,200,966 (GRCm39)		probably benign	Het
Aldh1l2	C	A	10: 83,356,244 (GRCm39)	G49C	probably damaging	Het
Arhgap26	G	A	18: 39,419,725 (GRCm39)	E11K	probably damaging	Het
Asns	C	T	6: 7,689,365 (GRCm39)	G46S	probably damaging	Het
Atrn	G	T	2: 130,748,464 (GRCm39)		probably benign	Het
Cep126	A	C	9: 8,120,746 (GRCm39)	Y92*	probably null	Het
Cfap69	T	C	5: 5,639,204 (GRCm39)	T567A	probably damaging	Het
Clgn	T	A	8: 84,123,670 (GRCm39)	Y61N	probably damaging	Het
Col28a1	T	G	6: 8,015,025 (GRCm39)	K793N	possibly damaging	Het
Cxcl9	C	A	5: 92,471,715 (GRCm39)	M108I	probably benign	Het
Cyp4f37	A	T	17: 32,850,306 (GRCm39)	I318F	probably damaging	Het
Daam1	T	C	12: 71,993,320 (GRCm39)	M363T	unknown	Het
Dnajc13	A	C	9: 104,069,973 (GRCm39)		probably null	Het
Entpd2	G	A	2: 25,289,781 (GRCm39)		probably benign	Het
F3	T	A	3: 121,526,053 (GRCm39)	N205K	probably damaging	Het
Fat2	A	T	11: 55,180,063 (GRCm39)	F1426Y	possibly damaging	Het
Galnt6	A	T	15: 100,602,007 (GRCm39)	F267I	probably damaging	Het
Gm1322	G	A	2: 67,014,979 (GRCm39)		noncoding transcript	Het
Hdgfl3	A	C	7: 81,549,451 (GRCm39)	S143A	possibly damaging	Het
Ints7	T	A	1: 191,308,005 (GRCm39)	D12E	probably benign	Het
Kank3	A	G	17: 34,037,037 (GRCm39)	T114A	probably benign	Het
Lrp1b	A	G	2: 41,185,624 (GRCm39)	Y1364H	probably damaging	Het
Mef2b	A	G	8: 70,618,267 (GRCm39)	T116A	possibly damaging	Het
Megf8	C	T	7: 25,054,539 (GRCm39)	T1885I	probably damaging	Het
Mrps11	A	G	7: 78,433,343 (GRCm39)	K30E	probably benign	Het
Naca	T	A	10: 127,877,797 (GRCm39)		probably benign	Het
Ncoa4-ps	A	G	12: 119,226,349 (GRCm39)		noncoding transcript	Het
Nhsl3	GGTG	GGTGTG	4: 129,117,773 (GRCm39)		probably null	Het
Or2at1	T	C	7: 99,417,155 (GRCm39)	I262T	probably benign	Het
Paip2b	C	T	6: 83,808,252 (GRCm39)		probably null	Het
Plcb2	G	T	2: 118,541,532 (GRCm39)		probably benign	Het
Plcd4	A	G	1: 74,587,131 (GRCm39)		probably null	Het
Pnpla8	A	G	12: 44,329,670 (GRCm39)	N74S	probably benign	Het
Pot1b	A	T	17: 55,994,834 (GRCm39)	I276N	probably damaging	Het
Qprt	C	T	7: 126,708,416 (GRCm39)	G5D	probably benign	Het
Rab11fip1	T	C	8: 27,646,614 (GRCm39)	N154S	probably damaging	Het
Rin3	G	A	12: 102,279,378 (GRCm39)		probably benign	Het
Sdf4	C	T	4: 156,080,761 (GRCm39)	P37S	probably damaging	Het
Selp	A	T	1: 163,964,811 (GRCm39)	D491V	probably damaging	Het
Sh3gl3	A	G	7: 81,824,696 (GRCm39)		probably benign	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Spata31d1e	T	C	13: 59,891,016 (GRCm39)	Y268C	probably damaging	Het
Tas2r134	A	G	2: 51,517,880 (GRCm39)	R120G	probably damaging	Het
Tgfbr3	T	C	5: 107,287,673 (GRCm39)	R509G	probably benign	Het
Tle3	T	A	9: 61,314,753 (GRCm39)	Y231N	probably damaging	Het
Top6bl	C	A	19: 4,676,048 (GRCm39)	A695S	probably benign	Het
Ttc41	C	T	10: 86,594,210 (GRCm39)	T881I	probably benign	Het
Ttll8	T	C	15: 88,816,931 (GRCm39)	Y271C	probably benign	Het
Ttn	A	T	2: 76,778,328 (GRCm39)	I1307K	possibly damaging	Het
Vcan	T	C	13: 89,828,069 (GRCm39)	T3126A	probably damaging	Het
Vps13d	T	C	4: 144,875,540 (GRCm39)	T1656A	probably benign	Het
Zzz3	C	A	3: 152,157,759 (GRCm39)	S777R	possibly damaging	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
R7044:Ube2k	UTSW	5	65,738,772 (GRCm39)	missense	possibly damaging	0.82
R9224:Ube2k	UTSW	5	65,751,847 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCATTCCGTTGACCAACAG -3'
(R):5'- CCTGGAAATTGGCTGTGGTAAATG -3'

Sequencing Primer
(F):5'- CCGTTGACCAACAGAAAATTTGTCTC -3'
(R):5'- AAATTGGCTGTGGTAAATGTATTTG -3'

Posted On

2016-11-21