Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02515:Ube2o'

296715

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2o

Ensembl Gene

ENSMUSG00000020802

Gene Name

ubiquitin-conjugating enzyme E2O

Synonyms

B230113M03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.823) question?

Stock #

IGL02515

Quality Score

Status

Chromosome

Chromosomal Location

116428566-116472273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116434525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 601 (V601A)

Ref Sequence

ENSEMBL: ENSMUSP00000080791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082152]

AlphaFold

Q6ZPJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000082152
AA Change: V601A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: V601A

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC
low complexity region	79	110	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
low complexity region	379	391	N/A	INTRINSIC
low complexity region	470	505	N/A	INTRINSIC
low complexity region	516	528	N/A	INTRINSIC
low complexity region	705	712	N/A	INTRINSIC
low complexity region	715	737	N/A	INTRINSIC
coiled coil region	845	879	N/A	INTRINSIC
UBCc	953	1110	2.23e-16	SMART
Blast:UBCc	1201	1274	1e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147851

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased MEF proliferation and transformation and increased pre-weaning lethality. Mice heterozygous for the allele exhibit increased total body fat amount, increased startle reflex, increased grip strength and increased circulating HDL cholesterol. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,153,229 (GRCm39)	D879G	probably benign	Het
Atp6v0d2	A	T	4: 19,880,063 (GRCm39)	F278Y	possibly damaging	Het
Cip2a	A	G	16: 48,826,096 (GRCm39)	T388A	possibly damaging	Het
Dapk3	T	C	10: 81,025,763 (GRCm39)		probably benign	Het
Dpysl4	A	T	7: 138,676,651 (GRCm39)	D367V	probably damaging	Het
E330034G19Rik	T	A	14: 24,348,052 (GRCm39)	D101E	possibly damaging	Het
Epb41l1	G	A	2: 156,378,933 (GRCm39)	E811K	probably damaging	Het
Fsd1	T	A	17: 56,303,303 (GRCm39)	V424E	probably null	Het
Ggt5	G	A	10: 75,425,604 (GRCm39)	V21I	probably benign	Het
Gm5239	A	G	18: 35,669,787 (GRCm39)	E51G	probably damaging	Het
Gpr156	A	G	16: 37,826,041 (GRCm39)	S753G	probably damaging	Het
Grid1	A	T	14: 35,174,302 (GRCm39)	Y648F	probably damaging	Het
Hmgcr	T	C	13: 96,803,020 (GRCm39)		probably benign	Het
Insc	A	G	7: 114,368,243 (GRCm39)	D11G	probably damaging	Het
Mmp9	A	G	2: 164,790,876 (GRCm39)	D88G	probably damaging	Het
Mtmr10	C	T	7: 63,987,259 (GRCm39)	R600W	probably damaging	Het
Nlrc3	C	A	16: 3,767,323 (GRCm39)		probably benign	Het
Or5b116	T	A	19: 13,422,472 (GRCm39)	I32N	probably damaging	Het
Or8g51	T	C	9: 38,609,087 (GRCm39)	T196A	probably benign	Het
Pdcd11	A	T	19: 47,113,516 (GRCm39)	D1323V	probably damaging	Het
Rgl3	T	C	9: 21,885,396 (GRCm39)	R645G	possibly damaging	Het
Rnf2	A	T	1: 151,347,446 (GRCm39)	D137E	probably benign	Het
Smchd1	T	C	17: 71,747,952 (GRCm39)	H430R	probably damaging	Het
Sptb	A	G	12: 76,653,261 (GRCm39)	V1534A	possibly damaging	Het
Stip1	T	C	19: 6,999,487 (GRCm39)	T432A	probably benign	Het
Tnfsf14	T	C	17: 57,499,600 (GRCm39)	D84G	probably benign	Het
Vmn1r215	T	C	13: 23,259,990 (GRCm39)	I10T	probably benign	Het
Vtn	A	T	11: 78,392,480 (GRCm39)	I353F	probably damaging	Het

Other mutations in Ube2o

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ube2o	APN	11	116,435,580 (GRCm39)	missense	probably benign
IGL00973:Ube2o	APN	11	116,432,031 (GRCm39)	missense	probably damaging	1.00
IGL01291:Ube2o	APN	11	116,430,960 (GRCm39)	missense	probably damaging	1.00
IGL01804:Ube2o	APN	11	116,435,199 (GRCm39)	missense	probably benign	0.03
IGL02138:Ube2o	APN	11	116,434,226 (GRCm39)	splice site	probably benign
IGL02317:Ube2o	APN	11	116,432,389 (GRCm39)	missense	probably damaging	1.00
IGL02535:Ube2o	APN	11	116,432,591 (GRCm39)	missense	probably benign	0.00
IGL03062:Ube2o	APN	11	116,432,468 (GRCm39)	missense	probably damaging	0.99
IGL03145:Ube2o	APN	11	116,434,835 (GRCm39)	missense	probably damaging	1.00
IGL03190:Ube2o	APN	11	116,435,954 (GRCm39)	missense	probably damaging	1.00
Delay	UTSW	11	116,430,898 (GRCm39)	missense	probably damaging	1.00
Tarry	UTSW	11	116,432,194 (GRCm39)	missense	probably damaging	1.00
ANU05:Ube2o	UTSW	11	116,430,960 (GRCm39)	missense	probably damaging	1.00
R0519:Ube2o	UTSW	11	116,437,285 (GRCm39)	critical splice donor site	probably null
R0666:Ube2o	UTSW	11	116,433,661 (GRCm39)	missense	probably damaging	1.00
R1056:Ube2o	UTSW	11	116,437,290 (GRCm39)	missense	probably damaging	1.00
R1202:Ube2o	UTSW	11	116,432,408 (GRCm39)	missense	probably damaging	1.00
R1424:Ube2o	UTSW	11	116,434,558 (GRCm39)	missense	probably benign
R1469:Ube2o	UTSW	11	116,436,650 (GRCm39)	splice site	probably benign
R1720:Ube2o	UTSW	11	116,435,433 (GRCm39)	missense	probably benign
R1791:Ube2o	UTSW	11	116,432,320 (GRCm39)	missense	probably benign	0.01
R1893:Ube2o	UTSW	11	116,439,661 (GRCm39)	missense	possibly damaging	0.68
R1997:Ube2o	UTSW	11	116,436,163 (GRCm39)	missense	probably damaging	0.99
R2156:Ube2o	UTSW	11	116,471,972 (GRCm39)	missense	probably damaging	0.98
R2199:Ube2o	UTSW	11	116,435,571 (GRCm39)	missense	probably benign
R2414:Ube2o	UTSW	11	116,439,683 (GRCm39)	missense	probably benign	0.02
R3766:Ube2o	UTSW	11	116,437,689 (GRCm39)	splice site	probably benign
R4749:Ube2o	UTSW	11	116,432,734 (GRCm39)	missense	probably benign	0.11
R5213:Ube2o	UTSW	11	116,432,285 (GRCm39)	missense	possibly damaging	0.82
R5403:Ube2o	UTSW	11	116,439,633 (GRCm39)	missense	possibly damaging	0.48
R5441:Ube2o	UTSW	11	116,435,268 (GRCm39)	missense	probably damaging	1.00
R5727:Ube2o	UTSW	11	116,430,496 (GRCm39)	missense	probably damaging	1.00
R6125:Ube2o	UTSW	11	116,435,576 (GRCm39)	missense	possibly damaging	0.50
R6125:Ube2o	UTSW	11	116,432,204 (GRCm39)	missense	probably damaging	1.00
R6234:Ube2o	UTSW	11	116,430,316 (GRCm39)	missense	probably benign	0.17
R6278:Ube2o	UTSW	11	116,430,369 (GRCm39)	missense	probably damaging	1.00
R6324:Ube2o	UTSW	11	116,430,185 (GRCm39)	missense	probably benign	0.00
R6346:Ube2o	UTSW	11	116,432,194 (GRCm39)	missense	probably damaging	1.00
R6389:Ube2o	UTSW	11	116,439,684 (GRCm39)	missense	probably null	0.72
R7040:Ube2o	UTSW	11	116,432,686 (GRCm39)	missense	probably benign	0.08
R7072:Ube2o	UTSW	11	116,432,327 (GRCm39)	missense	probably benign	0.13
R7270:Ube2o	UTSW	11	116,434,761 (GRCm39)	missense	possibly damaging	0.62
R7420:Ube2o	UTSW	11	116,430,898 (GRCm39)	missense	probably damaging	1.00
R7593:Ube2o	UTSW	11	116,471,905 (GRCm39)	missense	possibly damaging	0.73
R7818:Ube2o	UTSW	11	116,434,736 (GRCm39)	missense	probably damaging	1.00
R7916:Ube2o	UTSW	11	116,471,884 (GRCm39)	missense	probably benign
R8212:Ube2o	UTSW	11	116,439,624 (GRCm39)	missense	possibly damaging	0.54
R8679:Ube2o	UTSW	11	116,432,273 (GRCm39)	nonsense	probably null
R9085:Ube2o	UTSW	11	116,436,209 (GRCm39)	missense	probably damaging	1.00
R9221:Ube2o	UTSW	11	116,433,664 (GRCm39)	missense	probably damaging	1.00
R9287:Ube2o	UTSW	11	116,471,942 (GRCm39)	missense	probably damaging	1.00
R9388:Ube2o	UTSW	11	116,430,210 (GRCm39)	missense	possibly damaging	0.90
R9569:Ube2o	UTSW	11	116,434,823 (GRCm39)	missense	probably damaging	1.00
R9686:Ube2o	UTSW	11	116,434,779 (GRCm39)	missense	probably benign
R9689:Ube2o	UTSW	11	116,435,639 (GRCm39)	missense	possibly damaging	0.84

Posted On

2015-04-16