Mutagenetix > Incidental Mutation

Incidental Mutation 'R7593:Ube2o'

587562

Institutional Source

Beutler Lab

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 #

R7593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116428566-116472273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116471905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 112 (L112Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080791 (fasta)

Gene Model

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

AlphaFold

Q6ZPJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082152
AA Change: L112Q

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: L112Q

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: 99.0%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,774 (GRCm39)	A170V	probably damaging	Het
Acp6	A	T	3: 97,073,266 (GRCm39)	E102D	probably benign	Het
Acss1	T	A	2: 150,461,688 (GRCm39)	R632*	probably null	Het
Adamtsl1	G	T	4: 86,259,450 (GRCm39)	C832F	probably damaging	Het
Adgrg6	T	G	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Alkbh1	A	T	12: 87,487,095 (GRCm39)	Y91*	probably null	Het
Arhgap35	A	T	7: 16,298,786 (GRCm39)	I93N	probably damaging	Het
Asic2	A	T	11: 81,858,657 (GRCm39)	D118E	probably benign	Het
Asprv1	G	T	6: 86,605,762 (GRCm39)	V203L	probably damaging	Het
Atad2b	G	A	12: 5,081,726 (GRCm39)	D1212N	probably benign	Het
Atp4a	A	G	7: 30,424,105 (GRCm39)	I960V	probably benign	Het
Bin1	G	T	18: 32,552,932 (GRCm39)	E186*	probably null	Het
Bmp10	A	G	6: 87,410,651 (GRCm39)	Y148C	probably damaging	Het
Ccdc152	T	A	15: 3,310,137 (GRCm39)	D246V	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cdh9	A	T	15: 16,823,261 (GRCm39)	D81V	probably damaging	Het
Cep162	A	T	9: 87,086,250 (GRCm39)	S1025T	probably benign	Het
Cidea	A	G	18: 67,493,283 (GRCm39)	I101V	probably benign	Het
Clock	G	A	5: 76,384,145 (GRCm39)	S478L	possibly damaging	Het
Cp	T	A	3: 20,020,494 (GRCm39)	N162K	probably benign	Het
Crb1	C	T	1: 139,164,978 (GRCm39)	E1110K	probably damaging	Het
Cyp2b13	A	T	7: 25,780,416 (GRCm39)	I146L	possibly damaging	Het
D630045J12Rik	A	G	6: 38,172,429 (GRCm39)	S580P	possibly damaging	Het
Dars2	T	C	1: 160,885,113 (GRCm39)	E224G	probably damaging	Het
Dcbld2	A	G	16: 58,244,941 (GRCm39)	T72A	possibly damaging	Het
Ddx11	A	T	17: 66,433,193 (GRCm39)	I8F	possibly damaging	Het
Dennd2d	T	C	3: 106,407,244 (GRCm39)	F432L	probably damaging	Het
Dnah10	T	C	5: 124,823,608 (GRCm39)	V543A	probably benign	Het
Eef2k	G	A	7: 120,488,491 (GRCm39)		probably null	Het
Elmo1	A	G	13: 20,474,610 (GRCm39)	M345V	probably benign	Het
Ephb4	A	G	5: 137,359,560 (GRCm39)	M377V	probably benign	Het
Erbb4	C	A	1: 68,293,758 (GRCm39)	R711L	probably damaging	Het
Fads1	A	G	19: 10,162,361 (GRCm39)	E95G	probably damaging	Het
Farsa	G	A	8: 85,594,278 (GRCm39)		probably null	Het
Galntl6	A	G	8: 58,230,293 (GRCm39)	S42P	probably damaging	Het
Gga2	G	A	7: 121,589,672 (GRCm39)	T559M	probably benign	Het
Glipr1l2	G	A	10: 111,928,465 (GRCm39)	G120D	probably damaging	Het
Gm14226	A	T	2: 154,866,114 (GRCm39)	I24L	unknown	Het
Gprc5b	G	T	7: 118,583,492 (GRCm39)	R126S	probably damaging	Het
Gys1	A	G	7: 45,092,360 (GRCm39)	D321G	probably damaging	Het
Hdlbp	C	T	1: 93,358,005 (GRCm39)	A299T	probably benign	Het
Hic2	A	G	16: 17,076,979 (GRCm39)	T603A	probably damaging	Het
Hoxa11	A	T	6: 52,220,524 (GRCm39)	I253N	probably damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Inpp5d	T	A	1: 87,645,500 (GRCm39)	S1023T	possibly damaging	Het
Kif21a	C	T	15: 90,828,064 (GRCm39)	A1233T	probably benign	Het
Kif9	A	T	9: 110,350,421 (GRCm39)	T771S	possibly damaging	Het
Klre1	T	A	6: 129,560,150 (GRCm39)	C141S	probably damaging	Het
Lats1	A	G	10: 7,577,476 (GRCm39)	Y200C	probably damaging	Het
Lgr4	T	A	2: 109,829,801 (GRCm39)	L247H	probably damaging	Het
Lrrc37a	T	C	11: 103,391,778 (GRCm39)	K1216E	probably benign	Het
Lrrc41	G	A	4: 115,950,141 (GRCm39)	R518H	possibly damaging	Het
Lrrk1	A	G	7: 65,958,439 (GRCm39)	V320A	probably benign	Het
Mcm9	C	T	10: 53,506,088 (GRCm39)	R62H	probably benign	Het
Mmp10	T	G	9: 7,503,154 (GRCm39)	L38R	probably damaging	Het
Mroh8	A	G	2: 157,071,867 (GRCm39)	L546P	probably damaging	Het
Mtcl2	A	T	2: 156,882,776 (GRCm39)	D425E	probably benign	Het
Myt1	T	A	2: 181,439,532 (GRCm39)	D393E	possibly damaging	Het
Mzb1	A	T	18: 35,780,901 (GRCm39)	I129N	probably damaging	Het
Nek10	A	G	14: 14,826,955 (GRCm38)	D51G	probably benign	Het
Nme5	A	G	18: 34,700,201 (GRCm39)	I148T	probably benign	Het
Nr2e1	G	A	10: 42,439,475 (GRCm39)	P348L	probably damaging	Het
Nrp2	A	G	1: 62,758,203 (GRCm39)	E63G	probably damaging	Het
Or2d2	A	T	7: 106,727,782 (GRCm39)	S273T	probably damaging	Het
Or51ab3	A	T	7: 103,200,956 (GRCm39)		probably benign	Het
Or52e3	A	G	7: 102,869,471 (GRCm39)	E182G	probably damaging	Het
Or52e5	A	G	7: 104,718,704 (GRCm39)	H10R	probably benign	Het
Or56a3	A	G	7: 104,735,372 (GRCm39)	T150A	probably benign	Het
Pak5	A	G	2: 135,942,884 (GRCm39)	S419P	probably benign	Het
Pfas	C	A	11: 68,881,921 (GRCm39)	M25I		Het
Prdm9	A	G	17: 15,764,867 (GRCm39)	S638P	possibly damaging	Het
Psd	G	A	19: 46,301,352 (GRCm39)	T954I	possibly damaging	Het
Psph	T	C	5: 129,864,337 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,069,593 (GRCm39)	I1517T	probably benign	Het
Rassf8	A	G	6: 145,761,129 (GRCm39)	R152G	probably benign	Het
Rfx3	G	A	19: 27,827,139 (GRCm39)	T149I	probably benign	Het
Rfx8	A	T	1: 39,722,838 (GRCm39)	F260I	probably damaging	Het
Rnft1	C	T	11: 86,384,023 (GRCm39)	Q308*	probably null	Het
Rock2	A	G	12: 17,008,241 (GRCm39)	N528S	probably benign	Het
Rpp25l	T	C	4: 41,712,305 (GRCm39)	R157G	unknown	Het
Ryr1	A	T	7: 28,735,528 (GRCm39)	N4083K	probably damaging	Het
Scd1	G	T	19: 44,388,739 (GRCm39)	T237N	probably benign	Het
Sema3d	T	C	5: 12,558,112 (GRCm39)	F215L	probably benign	Het
Sema7a	C	T	9: 57,867,858 (GRCm39)	T478I	probably benign	Het
Sftpc	T	C	14: 70,759,623 (GRCm39)	T99A	possibly damaging	Het
Slc25a4	G	A	8: 46,662,241 (GRCm39)	T139I	probably damaging	Het
Snx27	T	C	3: 94,410,272 (GRCm39)	E468G	possibly damaging	Het
Snx33	T	C	9: 56,834,058 (GRCm39)	K4E	possibly damaging	Het
Soat1	A	T	1: 156,268,148 (GRCm39)	L253*	probably null	Het
Sycp2l	A	T	13: 41,326,192 (GRCm39)	N749I	probably damaging	Het
Synj2bp	A	T	12: 81,557,664 (GRCm39)	I47N	probably damaging	Het
Tmem82	T	A	4: 141,343,605 (GRCm39)	I222F	probably damaging	Het
Vmn1r204	G	A	13: 22,740,754 (GRCm39)	W128*	probably null	Het
Vmn2r114	A	T	17: 23,510,817 (GRCm39)	Y554*	probably null	Het
Vmn2r62	A	T	7: 42,437,213 (GRCm39)	Y424N	possibly damaging	Het
Vmn2r70	A	T	7: 85,215,312 (GRCm39)	L74*	probably null	Het
Vmp1	T	A	11: 86,477,377 (GRCm39)	Y341F	probably benign	Het
Vps13a	A	T	19: 16,703,027 (GRCm39)	V642D	probably damaging	Het
Vps33a	T	C	5: 123,674,619 (GRCm39)	M383V	probably benign	Het
Vwf	G	A	6: 125,624,731 (GRCm39)	V1827I		Het
Zc3hav1	A	G	6: 38,306,121 (GRCm39)	Y644H	probably benign	Het
Zfp429	A	C	13: 67,538,410 (GRCm39)	C345G	probably damaging	Het
Zfp595	T	C	13: 67,464,823 (GRCm39)	H483R	probably benign	Het
Zfp748	G	T	13: 67,690,638 (GRCm39)	H207Q	probably benign	Het
Zfp758	T	C	17: 22,593,939 (GRCm39)	S142P	probably damaging	Het
Znfx1	A	C	2: 166,898,145 (GRCm39)	S260A	probably benign	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
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
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'- AAACGCCGCACTAGTGTAAC -3'
(R):5'- TGTTCTCCCACGACCTGGTG -3'

Sequencing Primer
(F):5'- GCACTAGTGTAACGCCGAAC -3'
(R):5'- TGGTGTCCGGCCGTTAC -3'

Posted On

2019-10-24