Mutagenetix > Incidental Mutation

Incidental Mutation 'R2047:Ube2d3'

222078

Institutional Source

Beutler Lab

Gene Symbol

Ube2d3

Ensembl Gene

ENSMUSG00000078578

Gene Name

ubiquitin-conjugating enzyme E2D 3

Synonyms

1100001F19Rik, 9430029A22Rik

MMRRC Submission

040054-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R2047 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

135143993-135173975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135170967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 137 (I137K)

Ref Sequence

ENSEMBL: ENSMUSP00000143301 (fasta)

Gene Model

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

AlphaFold

P61079

Predicted Effect

probably benign
Transcript: ENSMUST00000106291
AA Change: I137K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101898
Gene: ENSMUSG00000078578
AA Change: I137K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166033
AA Change: I137K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000130096
Gene: ENSMUSG00000078578
AA Change: I137K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196446
AA Change: I137K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142974
Gene: ENSMUSG00000078578
AA Change: I137K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196878

Predicted Effect

probably benign
Transcript: ENSMUST00000197134

SMART Domains

Protein: ENSMUSP00000143606
Gene: ENSMUSG00000078578

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197539
AA Change: I137K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000143065
Gene: ENSMUSG00000078578
AA Change: I137K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197859
AA Change: I137K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000143608
Gene: ENSMUSG00000078578
AA Change: I137K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199613
AA Change: I137K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000143301
Gene: ENSMUSG00000078578
AA Change: I137K

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

probably benign
Transcript: ENSMUST00000198685

SMART Domains

Protein: ENSMUSP00000142612
Gene: ENSMUSG00000078578

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

Meta Mutation Damage Score

0.1142

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	A	G	7: 130,747,836 (GRCm39)	F52S	probably damaging	Het
Acot12	T	C	13: 91,931,122 (GRCm39)	S457P	probably damaging	Het
Adcy5	G	A	16: 35,110,478 (GRCm39)	V882M	possibly damaging	Het
Ahnak	A	G	19: 8,991,664 (GRCm39)	D4316G	possibly damaging	Het
Aldh1l2	G	A	10: 83,342,607 (GRCm39)	A401V	probably damaging	Het
Apol7e	A	G	15: 77,601,810 (GRCm39)	H136R	probably benign	Het
Arl5a	A	G	2: 52,302,072 (GRCm39)		probably null	Het
Asns	G	T	6: 7,680,093 (GRCm39)	A341E	probably damaging	Het
C7	A	G	15: 5,075,143 (GRCm39)	L183P	probably damaging	Het
Cacng2	C	T	15: 78,003,037 (GRCm39)	A19T	probably damaging	Het
Ccdc121rt2	A	G	5: 112,598,575 (GRCm39)	N374S	probably benign	Het
Ccr4	A	G	9: 114,321,633 (GRCm39)	F144S	probably damaging	Het
Ckap2	A	G	8: 22,658,763 (GRCm39)	V660A	probably benign	Het
Cramp1	A	T	17: 25,222,189 (GRCm39)	Y176*	probably null	Het
Dgki	A	G	6: 36,890,581 (GRCm39)	S922P	possibly damaging	Het
Drd5	C	T	5: 38,477,679 (GRCm39)	S224L	probably damaging	Het
Ei24	T	C	9: 36,691,459 (GRCm39)	K341E	probably benign	Het
Eno2	A	T	6: 124,744,659 (GRCm39)		probably benign	Het
Epb41l4a	T	C	18: 33,961,259 (GRCm39)	N425S	probably benign	Het
F13b	T	G	1: 139,435,961 (GRCm39)	C256G	probably damaging	Het
Gp6	A	T	7: 4,376,270 (GRCm39)		probably benign	Het
H2-Q7	A	T	17: 35,659,123 (GRCm39)	R191S	probably damaging	Het
Ivns1abp	T	A	1: 151,227,382 (GRCm39)	S63R	possibly damaging	Het
Kcnj16	A	G	11: 110,915,946 (GRCm39)		probably null	Het
Lpcat4	T	C	2: 112,075,142 (GRCm39)		probably null	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Maml3	C	A	3: 51,597,866 (GRCm39)	R939S	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Mrpl46	T	A	7: 78,431,312 (GRCm39)	Y82F	probably damaging	Het
Mthfs	T	A	9: 89,097,356 (GRCm39)	I71N	probably damaging	Het
Nectin4	T	C	1: 171,212,720 (GRCm39)	V351A	possibly damaging	Het
Npas3	T	C	12: 54,115,612 (GRCm39)	F827L	probably damaging	Het
Nrp1	G	A	8: 129,224,577 (GRCm39)		probably benign	Het
Ocln	C	A	13: 100,671,632 (GRCm39)	A242S	probably damaging	Het
Or10ad1c	T	A	15: 98,084,920 (GRCm39)	T253S	probably damaging	Het
Or13g1	G	A	7: 85,956,012 (GRCm39)	T103I	probably damaging	Het
Or5d37	A	T	2: 87,924,237 (GRCm39)	N14K	probably benign	Het
Pappa	T	C	4: 65,149,378 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,698,752 (GRCm39)	T480A	probably benign	Het
Pycr1	A	T	11: 120,532,512 (GRCm39)	D168E	possibly damaging	Het
Rnf6	T	C	5: 146,148,674 (GRCm39)	T126A	probably damaging	Het
Slc25a39	G	A	11: 102,296,657 (GRCm39)		probably benign	Het
Slc35f4	G	T	14: 49,541,029 (GRCm39)		probably benign	Het
Sppl2a	C	T	2: 126,768,772 (GRCm39)	A112T	probably damaging	Het
Sptbn1	A	C	11: 30,088,360 (GRCm39)		probably benign	Het
Sqle	T	C	15: 59,197,907 (GRCm39)	Y376H	probably benign	Het
Terb1	A	T	8: 105,212,094 (GRCm39)	Y296N	probably damaging	Het
Ttbk2	T	C	2: 120,579,397 (GRCm39)	H506R	probably damaging	Het
Ttn	T	C	2: 76,737,879 (GRCm39)	D4220G	probably benign	Het
Tub	A	G	7: 108,625,939 (GRCm39)	D230G	probably benign	Het
Vldlr	G	T	19: 27,212,238 (GRCm39)	C84F	probably damaging	Het
Vmn1r54	A	T	6: 90,246,970 (GRCm39)	I295F	probably damaging	Het
Vmn2r56	A	G	7: 12,466,918 (GRCm39)	S39P	probably damaging	Het
Zfp358	A	G	8: 3,545,934 (GRCm39)	H172R	probably damaging	Het
Zfp619	T	C	7: 39,187,062 (GRCm39)	C1031R	probably damaging	Het
Zfp777	A	G	6: 48,021,280 (GRCm39)	I114T	probably benign	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
R2210:Ube2d3	UTSW	3	135,168,802 (GRCm39)	missense	probably benign
R9381:Ube2d3	UTSW	3	135,168,722 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ACGTCCATGGCTCTCATTGC -3'
(R):5'- TCTTCTCAGATGAGCATGTGAATG -3'

Sequencing Primer
(F):5'- CCATTGCTTTGAATGCCAATGTTG -3'
(R):5'- TCTCAGATGAGCATGTGAATGAATGG -3'

Posted On

2014-08-25