Mutagenetix > Incidental Mutation

Incidental Mutation 'R2210:Ube2d3'

239302

Institutional Source

Beutler Lab

Gene Symbol

Ube2d3

Ensembl Gene

ENSMUSG00000078578

Gene Name

ubiquitin-conjugating enzyme E2D 3

Synonyms

1100001F19Rik, 9430029A22Rik

MMRRC Submission

040212-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R2210 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135143993-135173975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135168802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 132 (D132E)

Ref Sequence

ENSEMBL: ENSMUSP00000143301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106291] [ENSMUST00000166033] [ENSMUST00000196446] [ENSMUST00000196591] [ENSMUST00000199613] [ENSMUST00000198685] [ENSMUST00000197134] [ENSMUST00000197539] [ENSMUST00000197859] [ENSMUST00000198748]

AlphaFold

P61079

Predicted Effect

probably benign
Transcript: ENSMUST00000106291
AA Change: D132E

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

SMART Domains

Protein: ENSMUSP00000101898
Gene: ENSMUSG00000078578
AA Change: D132E

Domain	Start	End	E-Value	Type
UBCc	4	147	1.61e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166033
AA Change: D132E

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

SMART Domains

Protein: ENSMUSP00000130096
Gene: ENSMUSG00000078578
AA Change: D132E

Domain	Start	End	E-Value	Type
UBCc	4	147	1.61e-72	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196248

Predicted Effect

probably benign
Transcript: ENSMUST00000196446
AA Change: D132E

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

SMART Domains

Protein: ENSMUSP00000142974
Gene: ENSMUSG00000078578
AA Change: D132E

Domain	Start	End	E-Value	Type
UBCc	4	147	1.61e-72	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196564

Predicted Effect

probably benign
Transcript: ENSMUST00000196591

SMART Domains

Protein: ENSMUSP00000143758
Gene: ENSMUSG00000078578

Domain	Start	End	E-Value	Type
UBCc	4	73	8.5e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196878

Predicted Effect

probably benign
Transcript: ENSMUST00000199613
AA Change: D132E

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

SMART Domains

Protein: ENSMUSP00000143301
Gene: ENSMUSG00000078578
AA Change: D132E

Domain	Start	End	E-Value	Type
UBCc	4	147	1.61e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198685
AA Change: D132E

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

SMART Domains

Protein: ENSMUSP00000142612
Gene: ENSMUSG00000078578
AA Change: D132E

Domain	Start	End	E-Value	Type
UBCc	4	132	3.5e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197134
AA Change: D132E

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

SMART Domains

Protein: ENSMUSP00000143606
Gene: ENSMUSG00000078578
AA Change: D132E

Domain	Start	End	E-Value	Type
UBCc	4	147	2.16e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197539
AA Change: D132E

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

SMART Domains

Protein: ENSMUSP00000143065
Gene: ENSMUSG00000078578
AA Change: D132E

Domain	Start	End	E-Value	Type
UBCc	4	147	1.61e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197859
AA Change: D132E

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

SMART Domains

Protein: ENSMUSP00000143608
Gene: ENSMUSG00000078578
AA Change: D132E

Domain	Start	End	E-Value	Type
UBCc	4	147	1.61e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198748

SMART Domains

Protein: ENSMUSP00000142763
Gene: ENSMUSG00000078578

Domain	Start	End	E-Value	Type
Pfam:UQ_con	5	45	8.3e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197814

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	C	G	5: 115,080,348 (GRCm39)	R28G	probably damaging	Het
Adgrb1	C	T	15: 74,419,553 (GRCm39)	A798V	probably damaging	Het
Ash1l	G	T	3: 88,973,605 (GRCm39)	D2555Y	probably damaging	Het
Atr	G	A	9: 95,789,353 (GRCm39)	R1503Q	probably damaging	Het
Cbln3	T	A	14: 56,121,383 (GRCm39)	I88F	possibly damaging	Het
Cct7	G	A	6: 85,436,212 (GRCm39)	G41D	probably damaging	Het
Cd1d2	G	T	3: 86,895,041 (GRCm39)	A138S	possibly damaging	Het
Dct	T	C	14: 118,280,561 (GRCm39)	I152V	probably benign	Het
Dgkq	C	A	5: 108,808,389 (GRCm39)	R58L	probably damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Gm4884	A	T	7: 40,692,970 (GRCm39)	E313V	possibly damaging	Het
Hectd1	A	T	12: 51,853,245 (GRCm39)	I92K	probably damaging	Het
Icam1	A	G	9: 20,930,329 (GRCm39)	E61G	probably damaging	Het
Itgb2l	C	T	16: 96,227,421 (GRCm39)	V541M	possibly damaging	Het
Lmtk2	A	G	5: 144,084,427 (GRCm39)	E154G	probably damaging	Het
Majin	C	A	19: 6,272,728 (GRCm39)	H223N	possibly damaging	Het
Mc4r	A	T	18: 66,992,466 (GRCm39)	F216I	probably damaging	Het
Muc4	AG	AGG	16: 32,755,176 (GRCm38)		probably null	Het
Obscn	A	T	11: 58,958,913 (GRCm39)	V3379D	probably damaging	Het
Or8g30	A	T	9: 39,230,089 (GRCm39)	S274T	probably damaging	Het
Pde4b	A	T	4: 102,454,672 (GRCm39)	N346I	probably damaging	Het
Pitpnm1	T	C	19: 4,155,253 (GRCm39)	S331P	probably damaging	Het
Plcb2	T	A	2: 118,547,984 (GRCm39)	I437F	probably damaging	Het
Pramel14	T	A	4: 143,720,789 (GRCm39)	M51L	probably benign	Het
Prr12	A	G	7: 44,698,775 (GRCm39)		probably benign	Het
Pus7l	T	G	15: 94,438,173 (GRCm39)	D224A	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,782 (GRCm39)	S1007P	possibly damaging	Het
Stac	G	A	9: 111,431,638 (GRCm39)	P238S	probably damaging	Het
Tmem107	A	G	11: 68,962,096 (GRCm39)	E45G	possibly damaging	Het
Tmt1b	T	A	10: 128,794,591 (GRCm39)	K244N	probably damaging	Het
Triml2	T	C	8: 43,636,397 (GRCm39)	Y61H	probably damaging	Het
Uba2	T	C	7: 33,862,587 (GRCm39)	D95G	probably damaging	Het
Unc5d	A	G	8: 29,251,825 (GRCm39)	I216T	probably damaging	Het

Other mutations in Ube2d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03374:Ube2d3	APN	3	135,165,844 (GRCm39)	splice site	probably null
IGL03410:Ube2d3	APN	3	135,170,978 (GRCm39)	missense	probably damaging	1.00
R1772:Ube2d3	UTSW	3	135,170,972 (GRCm39)	missense	probably benign	0.02
R2047:Ube2d3	UTSW	3	135,170,967 (GRCm39)	missense	probably benign	0.01
R9381:Ube2d3	UTSW	3	135,168,722 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TTGGTGCCATCAGAGCTTTC -3'
(R):5'- CTCACTGTCATGTATGCTATGAGC -3'

Sequencing Primer
(F):5'- GGTGCCATCAGAGCTTTCATTTC -3'
(R):5'- TAGGCAGCCTAGACTACCTTC -3'

Posted On

2014-10-15