Mutagenetix > Incidental Mutation

Incidental Mutation 'R1893:Ube2o'

211729

Institutional Source

Beutler Lab

Gene Symbol

Ube2o

Ensembl Gene

ENSMUSG00000020802

Gene Name

ubiquitin-conjugating enzyme E2O

Synonyms

B230113M03Rik

MMRRC Submission

039913-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R1893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116428566-116472273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116439661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 170 (V170I)

Ref Sequence

ENSEMBL: ENSMUSP00000080791 (fasta)

Gene Model

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

AlphaFold

Q6ZPJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082152
AA Change: V170I

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: V170I

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: ENSMUST00000119903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147851

Meta Mutation Damage Score

0.0921

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

99% (99/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,415,928 (GRCm39)	Y674H	possibly damaging	Het
Aars2	G	A	17: 45,825,725 (GRCm39)	R347Q	probably benign	Het
Abca15	A	T	7: 119,939,776 (GRCm39)	M293L	possibly damaging	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Aldh1l2	G	T	10: 83,328,400 (GRCm39)	N772K	probably damaging	Het
Ascc2	T	A	11: 4,622,305 (GRCm39)	L457Q	probably benign	Het
Aspm	T	A	1: 139,407,605 (GRCm39)	I2164N	probably damaging	Het
Cabs1	A	G	5: 88,127,894 (GRCm39)	T182A	probably benign	Het
Carmil1	T	C	13: 24,208,446 (GRCm39)	E833G	possibly damaging	Het
Ccdc102a	G	A	8: 95,640,171 (GRCm39)	T41M	probably damaging	Het
Cimap1c	A	G	9: 56,756,498 (GRCm39)	Y173H	probably benign	Het
Clec2h	T	C	6: 128,647,795 (GRCm39)	V48A	probably benign	Het
Cpb2	G	A	14: 75,493,403 (GRCm39)	V27I	probably benign	Het
Cr2	T	C	1: 194,837,495 (GRCm39)	H1201R	probably benign	Het
Cyp2d9	T	C	15: 82,336,807 (GRCm39)	V52A	probably damaging	Het
Cyp4a12a	C	A	4: 115,183,864 (GRCm39)	N223K	probably benign	Het
Cyp7b1	G	A	3: 18,150,731 (GRCm39)	S336L	possibly damaging	Het
Dnah10	T	C	5: 124,831,381 (GRCm39)	V803A	probably benign	Het
Dnah17	T	A	11: 117,957,794 (GRCm39)	T2745S	probably benign	Het
Ep300	T	A	15: 81,515,847 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,388,762 (GRCm39)	S829P	probably damaging	Het
Fads3	C	A	19: 10,033,868 (GRCm39)	H418N	probably benign	Het
Fat1	T	C	8: 45,476,893 (GRCm39)	S1980P	probably damaging	Het
Fgf20	T	C	8: 40,732,844 (GRCm39)	E198G	possibly damaging	Het
Fgl2	G	A	5: 21,580,669 (GRCm39)	R337H	probably benign	Het
Gbp2	G	T	3: 142,335,933 (GRCm39)		probably benign	Het
Gja10	G	A	4: 32,601,541 (GRCm39)	S281L	probably benign	Het
Gm5422	G	A	10: 31,125,609 (GRCm39)		noncoding transcript	Het
Gmpr	T	A	13: 45,674,423 (GRCm39)	D129E	possibly damaging	Het
Gtf3c4	C	T	2: 28,724,374 (GRCm39)	V453I	possibly damaging	Het
Heatr6	T	C	11: 83,648,140 (GRCm39)	V111A	probably benign	Het
Hipk3	G	A	2: 104,263,601 (GRCm39)	R905W	probably damaging	Het
Hpn	T	A	7: 30,798,773 (GRCm39)	D103V	probably damaging	Het
Ipcef1	G	A	10: 6,850,680 (GRCm39)	R304W	probably damaging	Het
Iqcb1	A	G	16: 36,652,245 (GRCm39)	D52G	probably damaging	Het
Klhdc7b	C	T	15: 89,271,898 (GRCm39)		probably null	Het
Klhl1	A	T	14: 96,477,642 (GRCm39)		probably null	Het
Lrrn1	A	T	6: 107,545,083 (GRCm39)	I294F	possibly damaging	Het
Map3k1	A	T	13: 111,904,567 (GRCm39)	F406I	possibly damaging	Het
Map4k4	T	A	1: 40,040,717 (GRCm39)	V579E	probably benign	Het
Mapre2	A	G	18: 23,986,774 (GRCm39)	K62R	probably damaging	Het
Mdga1	A	T	17: 30,068,200 (GRCm39)	Y305N	probably damaging	Het
Mgl2	T	A	11: 70,024,993 (GRCm39)		probably null	Het
Mnx1	C	T	5: 29,682,828 (GRCm39)	G149D	unknown	Het
Mtbp	T	A	15: 55,421,064 (GRCm39)	S17T	probably benign	Het
Neu3	T	C	7: 99,472,627 (GRCm39)	T37A	possibly damaging	Het
Nr1i3	T	C	1: 171,044,792 (GRCm39)		probably null	Het
Or10al2	A	T	17: 37,983,747 (GRCm39)	K278*	probably null	Het
Or10g6	A	T	9: 39,934,270 (GRCm39)	I194F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,734 (GRCm39)	N43S	probably damaging	Het
Or9s18	T	A	13: 65,300,806 (GRCm39)	M256K	possibly damaging	Het
Osr2	A	G	15: 35,300,608 (GRCm39)	T55A	possibly damaging	Het
Palld	A	G	8: 61,969,655 (GRCm39)	V981A	probably damaging	Het
Pbx1	A	T	1: 168,030,979 (GRCm39)	M213K	possibly damaging	Het
Pcdhb12	C	A	18: 37,570,136 (GRCm39)	H427Q	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Phaf1	G	T	8: 105,973,133 (GRCm39)	V248F	probably damaging	Het
Polm	T	C	11: 5,785,574 (GRCm39)	T162A	possibly damaging	Het
Prox1	A	G	1: 189,892,715 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,062,641 (GRCm39)	T127S	probably benign	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rab21	T	C	10: 115,126,805 (GRCm39)	T181A	probably benign	Het
Rab38	A	T	7: 88,139,924 (GRCm39)	T198S	probably benign	Het
Rnase4	C	G	14: 51,342,395 (GRCm39)	Q40E	possibly damaging	Het
Rnf213	T	A	11: 119,307,274 (GRCm39)	W645R	probably damaging	Het
Rnf8	A	G	17: 29,840,524 (GRCm39)	I51M	probably damaging	Het
Sbpl	T	A	17: 24,172,241 (GRCm39)	D226V	unknown	Het
Sdf4	T	G	4: 156,085,205 (GRCm39)	I180S	probably benign	Het
Simc1	A	G	13: 54,687,528 (GRCm39)	K99R	probably damaging	Het
Slc2a4	T	C	11: 69,837,398 (GRCm39)	Q49R	probably damaging	Het
Slco1a4	T	C	6: 141,780,342 (GRCm39)		probably null	Het
Slco5a1	C	A	1: 12,964,696 (GRCm39)	C527F	probably damaging	Het
Sox6	T	A	7: 115,143,803 (GRCm39)	N405I	probably benign	Het
Sphkap	G	A	1: 83,256,687 (GRCm39)	P354L	probably benign	Het
Spi1	A	G	2: 90,944,702 (GRCm39)	D149G	probably benign	Het
Sptan1	T	A	2: 29,910,472 (GRCm39)	D1812E	probably damaging	Het
Sub1	A	T	15: 11,991,130 (GRCm39)	V37E	possibly damaging	Het
Sult2a6	T	C	7: 13,959,814 (GRCm39)	T240A	probably benign	Het
Tacc2	A	G	7: 130,227,055 (GRCm39)	S1247G	probably benign	Het
Taf4	T	C	2: 179,574,823 (GRCm39)	D594G	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Ticam1	T	C	17: 56,578,894 (GRCm39)	N67S	probably benign	Het
Tlr6	A	G	5: 65,110,556 (GRCm39)	F784L	probably damaging	Het
Tmprss15	A	G	16: 78,868,306 (GRCm39)	V202A	probably benign	Het
Trp53bp2	T	C	1: 182,259,193 (GRCm39)	V82A	probably benign	Het
Ube2q2l	A	G	6: 136,378,825 (GRCm39)	S2P	possibly damaging	Het
Vmn1r177	G	A	7: 23,565,573 (GRCm39)	T101I	probably benign	Het
Vmn2r68	A	T	7: 84,883,867 (GRCm39)	Y79*	probably null	Het
Wdr35	A	C	12: 9,035,994 (GRCm39)	Y255S	probably benign	Het
Zfp507	A	T	7: 35,502,052 (GRCm39)		probably benign	Het
Zfp688	G	A	7: 127,018,409 (GRCm39)	R239C	probably damaging	Het
Zfp74	T	A	7: 29,635,470 (GRCm39)		probably null	Het
Zfp932	A	G	5: 110,157,069 (GRCm39)	N223D	possibly 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
IGL02515:Ube2o	APN	11	116,434,525 (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
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

Predicted Primers

PCR Primer
(F):5'- TGACCTCCTGTCTAGTAGCG -3'
(R):5'- CAACTGTGAGTCCCTCATCC -3'

Sequencing Primer
(F):5'- TCCTGTCTAGTAGCGCACAG -3'
(R):5'- ATCCCGCCCTGCACTTGAG -3'

Posted On

2014-06-30