Mutagenetix > Incidental Mutation

Incidental Mutation 'R4810:Ube2i'

371038

Institutional Source

Beutler Lab

Gene Symbol

Ube2i

Ensembl Gene

ENSMUSG00000015120

Gene Name

ubiquitin-conjugating enzyme E2I

Synonyms

Mmubc9, UBC9, 5830467E05Rik, Ubce9

MMRRC Submission

042429-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25480890-25493596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25484121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 45 (D45G)

Ref Sequence

ENSEMBL: ENSMUSP00000134546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049911] [ENSMUST00000172520] [ENSMUST00000172587] [ENSMUST00000172618] [ENSMUST00000172868] [ENSMUST00000173084] [ENSMUST00000173621] [ENSMUST00000173713] [ENSMUST00000174001] [ENSMUST00000174031] [ENSMUST00000174216] [ENSMUST00000173231]

AlphaFold

P63280

Predicted Effect

probably benign
Transcript: ENSMUST00000049911
AA Change: D102G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000055714
Gene: ENSMUSG00000015120
AA Change: D102G

Domain	Start	End	E-Value	Type
UBCc	7	157	4.03e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172569

Predicted Effect

probably benign
Transcript: ENSMUST00000172587

SMART Domains

Protein: ENSMUSP00000133590
Gene: ENSMUSG00000015120

Domain	Start	End	E-Value	Type
UBCc	7	101	1.11e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172618
AA Change: D102G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134169
Gene: ENSMUSG00000015120
AA Change: D102G

Domain	Start	End	E-Value	Type
UBCc	7	157	4.03e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172868

SMART Domains

Protein: ENSMUSP00000134540
Gene: ENSMUSG00000015120

Domain	Start	End	E-Value	Type
UBCc	7	101	1.11e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173084
AA Change: D102G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134261
Gene: ENSMUSG00000015120
AA Change: D102G

Domain	Start	End	E-Value	Type
UBCc	7	157	4.03e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173621
AA Change: D102G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134161
Gene: ENSMUSG00000015120
AA Change: D102G

Domain	Start	End	E-Value	Type
UBCc	7	102	2.69e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173713
AA Change: D102G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134491
Gene: ENSMUSG00000015120
AA Change: D102G

Domain	Start	End	E-Value	Type
UBCc	7	157	4.03e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174001
AA Change: D102G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134450
Gene: ENSMUSG00000015120
AA Change: D102G

Domain	Start	End	E-Value	Type
UBCc	7	157	4.03e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174031
AA Change: D102G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134350
Gene: ENSMUSG00000015120
AA Change: D102G

Domain	Start	End	E-Value	Type
UBCc	7	157	4.03e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174216
AA Change: D45G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134546
Gene: ENSMUSG00000015120
AA Change: D45G

Domain	Start	End	E-Value	Type
UBCc	1	100	2.32e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173231

Meta Mutation Damage Score

0.1589

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a targeted null mutation die prior to E7.5. In culture, mutant blastocysts are viable up to 2 days but show subsequent apoptosis of the inner cell mass. Mutant cells exhibit major chromosome condensation and segregation defects as well as gross defects in nuclear organization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,216 (GRCm39)	V1189A	possibly damaging	Het
A3galt2	T	C	4: 128,649,356 (GRCm39)		probably null	Het
Abca12	T	C	1: 71,342,771 (GRCm39)	D903G	probably benign	Het
Abcc12	T	C	8: 87,287,471 (GRCm39)	M125V	probably damaging	Het
Adad1	A	G	3: 37,146,183 (GRCm39)	N517S	probably damaging	Het
Ankrd44	A	G	1: 54,774,302 (GRCm39)		probably benign	Het
Armc7	A	G	11: 115,379,787 (GRCm39)	I162V	probably benign	Het
Art3	T	A	5: 92,562,108 (GRCm39)	V343D	possibly damaging	Het
Bcl9l	A	G	9: 44,419,650 (GRCm39)	T1106A	probably damaging	Het
Ccdc141	T	C	2: 76,876,099 (GRCm39)	N644D	possibly damaging	Het
Ccdc154	T	C	17: 25,382,472 (GRCm39)	L98S	probably damaging	Het
Ccne1	A	G	7: 37,799,018 (GRCm39)	W237R	probably damaging	Het
Cd33	T	C	7: 43,182,134 (GRCm39)	I104V	probably damaging	Het
Ceacam1	A	T	7: 25,173,945 (GRCm39)	*237K	probably null	Het
Ces1e	T	A	8: 93,935,259 (GRCm39)	I398F	probably benign	Het
Cfap44	T	C	16: 44,271,898 (GRCm39)	I1217T	probably damaging	Het
Clns1a	T	C	7: 97,363,224 (GRCm39)	S199P	probably benign	Het
Cntn4	C	A	6: 106,632,572 (GRCm39)	T532K	probably benign	Het
Col11a2	C	T	17: 34,276,086 (GRCm39)	S470L	probably damaging	Het
Cst5	A	T	2: 149,247,463 (GRCm39)	R60*	probably null	Het
Cxcr6	A	T	9: 123,639,227 (GRCm39)	D83V	probably damaging	Het
Dis3l2	T	C	1: 86,975,296 (GRCm39)	V774A	probably damaging	Het
Dusp15	A	G	2: 152,787,374 (GRCm39)	L79P	probably damaging	Het
Elapor1	T	A	3: 108,377,327 (GRCm39)		probably benign	Het
Eml6	A	T	11: 29,705,011 (GRCm39)	V1511E	possibly damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Fam227b	A	G	2: 125,829,859 (GRCm39)	F450L	probably benign	Het
Fam91a1	T	A	15: 58,306,589 (GRCm39)	L452Q	probably damaging	Het
Fbxo44	T	C	4: 148,240,903 (GRCm39)	Y199C	probably damaging	Het
Fgd3	A	G	13: 49,443,126 (GRCm39)	S149P	probably benign	Het
Gabra4	T	C	5: 71,781,325 (GRCm39)	E362G	probably damaging	Het
Galnt14	T	C	17: 73,819,116 (GRCm39)	I325V	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm10088	G	T	16: 18,847,081 (GRCm39)		noncoding transcript	Het
Grik5	T	C	7: 24,714,922 (GRCm39)	N691D	probably damaging	Het
Grm1	C	G	10: 10,658,438 (GRCm39)	D351H	probably damaging	Het
Grm8	T	C	6: 27,761,295 (GRCm39)	S310G	possibly damaging	Het
Gtf2h2	A	G	13: 100,617,510 (GRCm39)		probably null	Het
Hhex	G	T	19: 37,428,103 (GRCm39)	L49F	probably damaging	Het
Hkdc1	T	A	10: 62,247,304 (GRCm39)	R159S	probably benign	Het
Iqcm	A	G	8: 76,615,281 (GRCm39)	Y454C	probably damaging	Het
Kcnh8	G	A	17: 53,212,248 (GRCm39)		probably null	Het
Larp4b	A	G	13: 9,208,627 (GRCm39)	T427A	probably benign	Het
Mtmr3	A	T	11: 4,448,046 (GRCm39)	N297K	probably benign	Het
Nek8	G	A	11: 78,058,629 (GRCm39)	T557I	probably benign	Het
Nlrp9c	A	C	7: 26,077,602 (GRCm39)		probably null	Het
Nmrk1	T	A	19: 18,617,273 (GRCm39)	D48E	probably benign	Het
Npepps	G	A	11: 97,131,759 (GRCm39)	T365I	probably damaging	Het
Obscn	G	A	11: 58,922,417 (GRCm39)	T5921M	possibly damaging	Het
Or8b44	C	A	9: 38,410,620 (GRCm39)	Y218*	probably null	Het
Or8c9	A	G	9: 38,241,690 (GRCm39)	E269G	probably benign	Het
Otud7b	C	T	3: 96,043,918 (GRCm39)	A23V	probably damaging	Het
Pcdhga9	G	A	18: 37,871,601 (GRCm39)	A477T	possibly damaging	Het
Plekha7	A	T	7: 115,744,173 (GRCm39)	I663N	probably damaging	Het
Plscr1l1	A	G	9: 92,236,683 (GRCm39)	D190G	probably damaging	Het
Polk	A	T	13: 96,620,003 (GRCm39)	S732R	possibly damaging	Het
Ppfia2	A	G	10: 106,751,551 (GRCm39)	I1166V	probably benign	Het
Ppp2r5a	C	T	1: 191,088,589 (GRCm39)		probably benign	Het
Prkaa2	T	C	4: 104,897,011 (GRCm39)	K401E	probably damaging	Het
Ptpn23	A	G	9: 110,218,204 (GRCm39)	Y611H	possibly damaging	Het
Rab31	C	T	17: 66,028,998 (GRCm39)		probably null	Het
Rad51ap2	T	A	12: 11,507,406 (GRCm39)	C443S	probably damaging	Het
Ralgapa1	A	G	12: 55,841,778 (GRCm39)		probably null	Het
Rev3l	T	C	10: 39,699,721 (GRCm39)	L1406P	probably benign	Het
Rnaset2b	T	A	17: 7,259,167 (GRCm39)	D48E	probably benign	Het
Rnf13	G	T	3: 57,703,693 (GRCm39)	M105I	probably damaging	Het
Rnf150	T	C	8: 83,716,991 (GRCm39)	V166A	possibly damaging	Het
Rps6kc1	C	A	1: 190,541,160 (GRCm39)	R381L	probably damaging	Het
Rspo2	C	T	15: 43,033,216 (GRCm39)	R2H	probably benign	Het
Septin8	A	G	11: 53,425,416 (GRCm39)	D103G	probably damaging	Het
Sirt4	A	G	5: 115,618,508 (GRCm39)	W189R	probably damaging	Het
Slco6d1	T	C	1: 98,350,979 (GRCm39)	V110A	possibly damaging	Het
Sncaip	C	A	18: 53,040,271 (GRCm39)	Q822K	possibly damaging	Het
Spg11	A	C	2: 121,890,277 (GRCm39)	F2070V	probably damaging	Het
Sptb	A	T	12: 76,669,971 (GRCm39)	Y452*	probably null	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tead1	C	A	7: 112,441,073 (GRCm39)		probably null	Het
Tmem156	G	T	5: 65,248,790 (GRCm39)		probably benign	Het
Tmem169	A	G	1: 72,337,311 (GRCm39)	D82G	probably benign	Het
Tmem260	A	G	14: 48,709,930 (GRCm39)	E51G	probably damaging	Het
Trim36	G	T	18: 46,305,536 (GRCm39)	N470K	probably benign	Het
Trps1	T	A	15: 50,685,692 (GRCm39)	T158S	probably benign	Het
Ube2c	A	G	2: 164,614,482 (GRCm39)	*180W	probably null	Het
Uggt2	A	C	14: 119,250,933 (GRCm39)	L1188R	probably damaging	Het
Uroc1	T	C	6: 90,340,135 (GRCm39)	I680T	probably damaging	Het
Vmn2r2	T	A	3: 64,044,883 (GRCm39)	M88L	probably damaging	Het
Zfp248	G	A	6: 118,406,807 (GRCm39)	R261C	possibly damaging	Het
Zfp418	G	T	7: 7,185,846 (GRCm39)	R603L	possibly damaging	Het
Zmpste24	T	A	4: 120,918,251 (GRCm39)	Y457F	probably damaging	Het

Other mutations in Ube2i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Ube2i	APN	17	25,488,410 (GRCm39)	missense	probably damaging	0.97
R0485:Ube2i	UTSW	17	25,488,259 (GRCm39)	unclassified	probably benign
R1449:Ube2i	UTSW	17	25,487,538 (GRCm39)	missense	possibly damaging	0.89
R4596:Ube2i	UTSW	17	25,484,298 (GRCm39)	start gained	probably benign
R5180:Ube2i	UTSW	17	25,484,268 (GRCm39)	utr 5 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- AAATTGTGTAGGCCTCTGCTTG -3'
(R):5'- TCTGGACCCTCTGCTATTGAG -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- GACCCTCTGCTATTGAGTTTCTGAG -3'

Posted On

2016-02-04