Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Ube2o'

547010

Institutional Source

Beutler Lab

Gene Symbol

Ube2o

Ensembl Gene

ENSMUSG00000020802

Gene Name

ubiquitin-conjugating enzyme E2O

Synonyms

B230113M03Rik

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R7040 (G1)

Quality Score

204.009

Status

Not validated

Chromosome

Chromosomal Location

116537740-116581447 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116541860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 760 (E760G)

Ref Sequence

ENSEMBL: ENSMUSP00000080791 (fasta)

Gene Model

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

AlphaFold

Q6ZPJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000082152
AA Change: E760G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: E760G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	probably damaging	Het

Other mutations in Ube2o

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ube2o	APN	11	116544754	missense	probably benign
IGL00973:Ube2o	APN	11	116541205	missense	probably damaging	1.00
IGL01291:Ube2o	APN	11	116540134	missense	probably damaging	1.00
IGL01804:Ube2o	APN	11	116544373	missense	probably benign	0.03
IGL02138:Ube2o	APN	11	116543400	splice site	probably benign
IGL02317:Ube2o	APN	11	116541563	missense	probably damaging	1.00
IGL02515:Ube2o	APN	11	116543699	missense	probably damaging	1.00
IGL02535:Ube2o	APN	11	116541765	missense	probably benign	0.00
IGL03062:Ube2o	APN	11	116541642	missense	probably damaging	0.99
IGL03145:Ube2o	APN	11	116544009	missense	probably damaging	1.00
IGL03190:Ube2o	APN	11	116545128	missense	probably damaging	1.00
Delay	UTSW	11	116540072	missense	probably damaging	1.00
Tarry	UTSW	11	116541368	missense	probably damaging	1.00
ANU05:Ube2o	UTSW	11	116540134	missense	probably damaging	1.00
R0519:Ube2o	UTSW	11	116546459	critical splice donor site	probably null
R0666:Ube2o	UTSW	11	116542835	missense	probably damaging	1.00
R1056:Ube2o	UTSW	11	116546464	missense	probably damaging	1.00
R1202:Ube2o	UTSW	11	116541582	missense	probably damaging	1.00
R1424:Ube2o	UTSW	11	116543732	missense	probably benign
R1469:Ube2o	UTSW	11	116545824	splice site	probably benign
R1720:Ube2o	UTSW	11	116544607	missense	probably benign
R1791:Ube2o	UTSW	11	116541494	missense	probably benign	0.01
R1893:Ube2o	UTSW	11	116548835	missense	possibly damaging	0.68
R1997:Ube2o	UTSW	11	116545337	missense	probably damaging	0.99
R2156:Ube2o	UTSW	11	116581146	missense	probably damaging	0.98
R2199:Ube2o	UTSW	11	116544745	missense	probably benign
R2414:Ube2o	UTSW	11	116548857	missense	probably benign	0.02
R3766:Ube2o	UTSW	11	116546863	splice site	probably benign
R4749:Ube2o	UTSW	11	116541908	missense	probably benign	0.11
R5213:Ube2o	UTSW	11	116541459	missense	possibly damaging	0.82
R5403:Ube2o	UTSW	11	116548807	missense	possibly damaging	0.48
R5441:Ube2o	UTSW	11	116544442	missense	probably damaging	1.00
R5727:Ube2o	UTSW	11	116539670	missense	probably damaging	1.00
R6125:Ube2o	UTSW	11	116541378	missense	probably damaging	1.00
R6125:Ube2o	UTSW	11	116544750	missense	possibly damaging	0.50
R6234:Ube2o	UTSW	11	116539490	missense	probably benign	0.17
R6278:Ube2o	UTSW	11	116539543	missense	probably damaging	1.00
R6324:Ube2o	UTSW	11	116539359	missense	probably benign	0.00
R6346:Ube2o	UTSW	11	116541368	missense	probably damaging	1.00
R6389:Ube2o	UTSW	11	116548858	missense	probably null	0.72
R7072:Ube2o	UTSW	11	116541501	missense	probably benign	0.13
R7270:Ube2o	UTSW	11	116543935	missense	possibly damaging	0.62
R7420:Ube2o	UTSW	11	116540072	missense	probably damaging	1.00
R7593:Ube2o	UTSW	11	116581079	missense	possibly damaging	0.73
R7818:Ube2o	UTSW	11	116543910	missense	probably damaging	1.00
R7916:Ube2o	UTSW	11	116581058	missense	probably benign
R8212:Ube2o	UTSW	11	116548798	missense	possibly damaging	0.54
R8679:Ube2o	UTSW	11	116541447	nonsense	probably null
R9085:Ube2o	UTSW	11	116545383	missense	probably damaging	1.00
R9221:Ube2o	UTSW	11	116542838	missense	probably damaging	1.00
R9287:Ube2o	UTSW	11	116581116	missense	probably damaging	1.00
R9388:Ube2o	UTSW	11	116539384	missense	possibly damaging	0.90
R9569:Ube2o	UTSW	11	116543997	missense	probably damaging	1.00
R9686:Ube2o	UTSW	11	116543953	missense	probably benign
R9689:Ube2o	UTSW	11	116544813	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCCAGGATCTTGATGGCCTC -3'
(R):5'- CCCCAGTATTAGAGTTCTGTCTGG -3'

Sequencing Primer
(F):5'- AGGATCTTGATGGCCTCCTTCAG -3'
(R):5'- AGAGTTCTGTCTGGACTTAACTC -3'

Posted On

2019-05-13