Mutagenetix > Incidental Mutation

Incidental Mutation 'R1720:Ube2o'

191401

Institutional Source

Beutler Lab

Gene Symbol

Ube2o

Ensembl Gene

ENSMUSG00000020802

Gene Name

ubiquitin-conjugating enzyme E2O

Synonyms

B230113M03Rik

MMRRC Submission

039752-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.823) question?

Stock #

R1720 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

116428566-116472273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116435433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 452 (C452S)

Ref Sequence

ENSEMBL: ENSMUSP00000080791 (fasta)

Gene Model

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

AlphaFold

Q6ZPJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000082152
AA Change: C452S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: C452S

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

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	G	12: 84,122,655 (GRCm39)	D413G	probably benign	Het
Actr5	G	T	2: 158,478,057 (GRCm39)	V476F	possibly damaging	Het
Adhfe1	G	A	1: 9,637,125 (GRCm39)	D426N	probably benign	Het
Adra1a	T	C	14: 66,875,727 (GRCm39)	L234P	probably damaging	Het
Akap9	G	T	5: 4,022,791 (GRCm39)	V1207L	possibly damaging	Het
Anapc2	A	G	2: 25,164,724 (GRCm39)	D36G	probably benign	Het
Apol8	A	G	15: 77,633,566 (GRCm39)	S337P	possibly damaging	Het
Asxl3	A	T	18: 22,585,492 (GRCm39)	D139V	probably damaging	Het
Atp13a4	A	T	16: 29,227,746 (GRCm39)	V1037E	probably damaging	Het
Baat	A	T	4: 49,490,231 (GRCm39)	F284L	probably benign	Het
Bltp3b	T	C	10: 89,618,448 (GRCm39)	V141A	probably damaging	Het
C1qtnf6	A	T	15: 78,411,640 (GRCm39)	F40Y	probably damaging	Het
Caskin2	G	A	11: 115,693,608 (GRCm39)	H508Y	probably damaging	Het
Cass4	A	T	2: 172,269,654 (GRCm39)	I579F	probably damaging	Het
Cdk15	A	G	1: 59,328,917 (GRCm39)	Y277C	probably damaging	Het
Cit	G	A	5: 116,105,956 (GRCm39)	D947N	probably damaging	Het
Clint1	T	A	11: 45,778,237 (GRCm39)	I126K	probably damaging	Het
Col6a4	C	T	9: 105,903,671 (GRCm39)	G1640E	probably damaging	Het
Ddx10	T	C	9: 53,149,371 (GRCm39)	K119E	probably damaging	Het
Dennd1a	G	A	2: 37,690,209 (GRCm39)	Q964*	probably null	Het
Dnhd1	T	C	7: 105,343,035 (GRCm39)	F1460L	probably benign	Het
Edc3	T	C	9: 57,655,462 (GRCm39)		probably null	Het
Edn1	A	G	13: 42,458,826 (GRCm39)	E163G	probably benign	Het
Efl1	A	T	7: 82,332,929 (GRCm39)	D317V	possibly damaging	Het
Elapor2	T	G	5: 9,478,407 (GRCm39)	C424G	probably damaging	Het
F2	A	T	2: 91,459,175 (GRCm39)	Y430*	probably null	Het
Faap100	C	T	11: 120,265,407 (GRCm39)	V490M	probably damaging	Het
Fuz	G	T	7: 44,546,415 (GRCm39)	G104W	probably damaging	Het
Greb1l	C	A	18: 10,553,848 (GRCm39)	H1616Q	probably benign	Het
Grm1	G	T	10: 10,622,538 (GRCm39)		probably null	Het
Gucy2d	G	T	7: 98,126,437 (GRCm39)	A1098S	probably benign	Het
H1f0	T	A	15: 78,913,195 (GRCm39)	S92T	possibly damaging	Het
Hbb-bt	T	A	7: 103,463,083 (GRCm39)		probably benign	Het
Heg1	G	A	16: 33,527,549 (GRCm39)	A170T	probably benign	Het
Hspa4l	A	T	3: 40,736,049 (GRCm39)	K578*	probably null	Het
Ikbke	A	G	1: 131,186,947 (GRCm39)	S582P	possibly damaging	Het
Itga6	T	A	2: 71,650,510 (GRCm39)	F185L	probably damaging	Het
Itgal	T	A	7: 126,906,099 (GRCm39)	D396E	probably benign	Het
Kif5b	T	C	18: 6,213,427 (GRCm39)	H687R	probably benign	Het
Kmt2c	T	C	5: 25,504,182 (GRCm39)	N3709D	probably benign	Het
Lipf	A	T	19: 33,943,066 (GRCm39)	K125*	probably null	Het
Lrif1	A	T	3: 106,640,452 (GRCm39)	E512D	probably damaging	Het
Matn2	T	A	15: 34,345,420 (GRCm39)	Y142*	probably null	Het
Med13l	A	G	5: 118,880,060 (GRCm39)	T1051A	probably damaging	Het
Mpp3	T	A	11: 101,916,582 (GRCm39)	M1L	possibly damaging	Het
Mro	C	T	18: 74,009,806 (GRCm39)	S159L	probably benign	Het
Myh15	T	A	16: 48,913,145 (GRCm39)	D367E	probably damaging	Het
Myo1g	T	C	11: 6,462,490 (GRCm39)	Q547R	probably benign	Het
Neb	T	C	2: 52,097,733 (GRCm39)	I902M	probably benign	Het
Nsd1	G	A	13: 55,394,711 (GRCm39)	D771N	probably damaging	Het
Or10x4	A	G	1: 174,219,486 (GRCm39)	I284V	probably benign	Het
Or14a256	T	C	7: 86,265,664 (GRCm39)	N63S	probably damaging	Het
Or2a20	T	C	6: 43,194,494 (GRCm39)	S216P	probably damaging	Het
Or4e5	A	C	14: 52,728,051 (GRCm39)	Y40*	probably null	Het
Or8b48	C	T	9: 38,492,585 (GRCm39)	T4I	probably benign	Het
Penk	A	G	4: 4,134,240 (GRCm39)	Y136H	probably damaging	Het
Prdm6	C	T	18: 53,673,272 (GRCm39)	S144L	probably benign	Het
Ptprq	T	A	10: 107,522,155 (GRCm39)	I599F	probably damaging	Het
Racgap1	A	T	15: 99,526,650 (GRCm39)	C304*	probably null	Het
Rbp3	T	C	14: 33,678,866 (GRCm39)	V938A	probably benign	Het
Rpp30	A	G	19: 36,071,827 (GRCm39)	K132E	probably damaging	Het
Rxfp2	A	T	5: 149,966,564 (GRCm39)	R101*	probably null	Het
Ryr1	A	T	7: 28,801,295 (GRCm39)	V823E	probably damaging	Het
S100pbp	A	T	4: 129,075,886 (GRCm39)	D146E	probably damaging	Het
Sdr9c7	T	A	10: 127,738,127 (GRCm39)	V135E	probably damaging	Het
Serpinb12	A	G	1: 106,874,344 (GRCm39)	D23G	probably damaging	Het
Serpinf1	T	A	11: 75,304,807 (GRCm39)	T185S	probably null	Het
Slc23a1	A	C	18: 35,758,904 (GRCm39)	C96G	possibly damaging	Het
Slc5a4a	C	T	10: 76,025,103 (GRCm39)		probably null	Het
Spmap1	A	G	11: 97,662,435 (GRCm39)	F146L	probably damaging	Het
Suco	A	T	1: 161,661,623 (GRCm39)	L936Q	probably damaging	Het
Tmem144	T	C	3: 79,732,606 (GRCm39)	Y224C	probably damaging	Het
Tpm4	T	A	8: 72,898,598 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,560,414 (GRCm39)	E29329G	probably damaging	Het
Txn1	T	C	4: 57,943,922 (GRCm39)	I101V	probably benign	Het
Uxs1	A	T	1: 43,804,081 (GRCm39)	I278N	probably damaging	Het
Vps54	T	C	11: 21,256,519 (GRCm39)	F663L	probably damaging	Het
Wdfy3	CG	C	5: 102,074,391 (GRCm39)		probably null	Het
Zc3h11a	A	G	1: 133,549,439 (GRCm39)	S741P	probably damaging	Het
Zdbf2	G	A	1: 63,342,436 (GRCm39)	V272I	possibly damaging	Het
Zdhhc24	A	G	19: 4,928,979 (GRCm39)	N68S	probably damaging	Het
Znfx1	A	T	2: 166,885,986 (GRCm39)	L858*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GGTAAGGAACACACTCGGAACTCAC -3'
(R):5'- GAATCATGTCCTGCACCCCAGATAC -3'

Sequencing Primer
(F):5'- CAAGGGAATGCTCTTTTTACGACC -3'
(R):5'- CCCCAGATACCCAGTGTCC -3'

Posted On

2014-05-14