Mutagenetix > Incidental Mutations

Incidental Mutation 'R6389:Ube2o'

515706

Institutional Source

Beutler Lab

Gene Symbol

Ube2o

Ensembl Gene

ENSMUSG00000020802

Gene Name

ubiquitin-conjugating enzyme E2O

Synonyms

B230113M03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116537740-116581447 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 116548858 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 162 (I162R)

Ref Sequence

ENSEMBL: ENSMUSP00000080791 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000082152
AA Change: I162R

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: I162R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,497,830	L326R	possibly damaging	Het
5430403G16Rik	G	A	5: 109,676,019	P522S	possibly damaging	Het
Abcb11	A	T	2: 69,323,894	N109K	probably damaging	Het
Actn1	T	A	12: 80,174,522	M586L	probably benign	Het
Ago4	T	A	4: 126,507,244	I603F	probably damaging	Het
Bicc1	A	T	10: 70,958,922	V135D	probably damaging	Het
Bms1	T	C	6: 118,403,235	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,499,534	Q78P	probably benign	Het
Ccdc114	G	T	7: 45,948,516	V617F	probably benign	Het
Cfap74	T	C	4: 155,423,336	I248T	possibly damaging	Het
Clu	G	C	14: 65,971,322		probably benign	Het
Cnnm3	T	C	1: 36,520,522	V514A	probably damaging	Het
Cntd1	A	T	11: 101,285,751	I225F	probably damaging	Het
Col20a1	T	C	2: 180,992,583		probably null	Het
Ctnnal1	A	G	4: 56,813,849	V640A	probably benign	Het
Cul4a	A	G	8: 13,140,278	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,545,183	S270P	probably damaging	Het
Dmp1	A	T	5: 104,212,922	N488I	probably damaging	Het
Dnah14	G	A	1: 181,651,202		probably null	Het
Dst	T	C	1: 34,193,184	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,745,535	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,623,968	F304I	probably damaging	Het
Gm13941	T	C	2: 111,098,389	Q108R	unknown	Het
Hcn3	C	T	3: 89,150,933	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,678,056	D460G	probably damaging	Het
Ism2	T	C	12: 87,282,371	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,271,472	N156S	probably damaging	Het
Ksr2	A	G	5: 117,414,842	N5S	probably benign	Het
Lrrc7	T	G	3: 158,185,426	E368A	probably damaging	Het
Ly9	G	C	1: 171,596,537	S482C	probably damaging	Het
Map3k1	T	C	13: 111,769,441	D289G	probably damaging	Het
Mcub	T	C	3: 129,918,708	T173A	probably benign	Het
Mup16	T	C	4: 61,518,940	E48G	probably damaging	Het
Naf1	C	T	8: 66,861,028	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,395,816	S2024P	probably damaging	Het
Nop56	C	A	2: 130,277,887	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,363,471	Y265H	probably damaging	Het
Olfr1151	C	T	2: 87,858,023	P283S	probably damaging	Het
Olfr1197	A	G	2: 88,728,672	V309A	probably benign	Het
Olfr551	A	T	7: 102,588,472	N90K	probably benign	Het
Oxct2a	T	A	4: 123,323,427	K54*	probably null	Het
Oxct2b	G	T	4: 123,116,574	D96Y	probably benign	Het
Pisd	A	G	5: 32,764,847	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,366,894	N1071K	probably benign	Het
Prr11	G	A	11: 87,098,738	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,721,954	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,056,627	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,245,354	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,580,684	I57V	probably benign	Het
Spag9	A	G	11: 94,086,311	E81G	probably damaging	Het
Tbr1	A	G	2: 61,806,287		probably benign	Het
Tnrc6c	A	G	11: 117,722,741	D735G	probably damaging	Het
Tspan17	A	T	13: 54,795,616		probably null	Het
Tyw5	T	C	1: 57,391,499	K175R	probably damaging	Het
Ubr1	G	T	2: 120,881,039	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,330,478	Q33L	probably benign	Het
Zfp799	A	G	17: 32,820,578	L238P	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
R7040:Ube2o	UTSW	11	116541860	missense	probably benign	0.08
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

Predicted Primers

PCR Primer
(F):5'- TCTAGTAGCGCACAGGCAAG -3'
(R):5'- ACACATGCGCTCAACTGTG -3'

Sequencing Primer
(F):5'- TGGCCACAGTGACCAAGC -3'
(R):5'- AACTGTGAGTCCCTCATCCC -3'

Posted On

2018-05-04