Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Ube2g1'

513078

Institutional Source

Beutler Lab

Gene Symbol

Ube2g1

Ensembl Gene

ENSMUSG00000020794

Gene Name

ubiquitin-conjugating enzyme E2G 1

Synonyms

D130023C12Rik, 2700059C12Rik

MMRRC Submission

044510-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72498109-72577307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72553908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 20 (N20Y)

Ref Sequence

ENSEMBL: ENSMUSP00000021148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021148] [ENSMUST00000138247]

AlphaFold

P62254

Predicted Effect

probably damaging
Transcript: ENSMUST00000021148
AA Change: N20Y

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021148
Gene: ENSMUSG00000020794
AA Change: N20Y

Domain	Start	End	E-Value	Type
UBCc	8	166	2.54e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126046

Predicted Effect

probably benign
Transcript: ENSMUST00000138247

SMART Domains

Protein: ENSMUSP00000117588
Gene: ENSMUSG00000020794

Domain	Start	End	E-Value	Type
UBCc	1	95	6.89e-8	SMART

Meta Mutation Damage Score

0.3954

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

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 and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,985,831 (GRCm39)	Q657*	probably null	Het
Car15	T	C	16: 17,655,930 (GRCm39)	T560A	probably benign	Het
Cass4	C	T	2: 172,274,531 (GRCm39)	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,546 (GRCm39)	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,415,388 (GRCm39)	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,359,461 (GRCm39)	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Dab2ip	A	G	2: 35,600,278 (GRCm39)	H355R	probably benign	Het
Dennd2a	C	T	6: 39,470,076 (GRCm39)	A539T	probably benign	Het
Dnajc18	T	C	18: 35,819,762 (GRCm39)	E173G	probably damaging	Het
Dock7	T	C	4: 98,857,899 (GRCm39)	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931 (GRCm39)	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619 (GRCm38)	H73P	probably damaging	Het
Flg	A	G	3: 93,197,908 (GRCm39)		probably benign	Het
Fyn	C	A	10: 39,402,879 (GRCm39)	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,231,596 (GRCm39)	D330G	probably benign	Het
Gin1	T	C	1: 97,720,264 (GRCm39)	S509P	possibly damaging	Het
Gm17067	A	C	7: 42,357,906 (GRCm39)	S199A	probably benign	Het
Grk4	A	T	5: 34,831,881 (GRCm39)	K50M	probably damaging	Het
Inpp4b	A	G	8: 82,629,481 (GRCm39)	H272R	probably benign	Het
Ipo7	T	A	7: 109,626,336 (GRCm39)	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,756,191 (GRCm39)	I515T	probably damaging	Het
Kcnu1	T	A	8: 26,351,208 (GRCm39)	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,064,096 (GRCm39)	N336S	probably benign	Het
Lbr	G	T	1: 181,659,720 (GRCm39)	D158E	probably benign	Het
Mphosph10	T	C	7: 64,039,703 (GRCm39)	Q89R	probably benign	Het
Nectin3	T	A	16: 46,231,472 (GRCm39)	T21S	probably benign	Het
Numb	C	A	12: 83,844,036 (GRCm39)	R383L	probably damaging	Het
Or2p2	A	T	13: 21,256,753 (GRCm39)	N239K	probably damaging	Het
Or9a7	G	T	6: 40,521,647 (GRCm39)	Q89K	possibly damaging	Het
Pcdhb11	A	T	18: 37,555,212 (GRCm39)	I181F	probably benign	Het
Pcgf2	T	A	11: 97,583,235 (GRCm39)		probably null	Het
Pdzd8	T	C	19: 59,289,415 (GRCm39)	T662A	probably benign	Het
Pex13	A	C	11: 23,605,690 (GRCm39)	V180G	probably benign	Het
Pira1	A	T	7: 3,739,503 (GRCm39)	L455Q	probably damaging	Het
Pkp4	T	A	2: 59,045,091 (GRCm39)	V22D	probably benign	Het
Prkn	T	C	17: 12,222,939 (GRCm39)	F363S	probably damaging	Het
Prpf4b	A	C	13: 35,085,416 (GRCm39)	D954A	probably damaging	Het
Rfx8	T	C	1: 39,720,125 (GRCm39)	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,598,868 (GRCm39)	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778 (GRCm39)	C453S	possibly damaging	Het
Saxo4	T	C	19: 10,456,845 (GRCm39)	N167D	probably damaging	Het
Scarf1	G	T	11: 75,406,495 (GRCm39)	G260W	probably damaging	Het
Scyl1	T	C	19: 5,810,599 (GRCm39)	E538G	probably damaging	Het
Sec14l5	A	T	16: 4,990,859 (GRCm39)	I267F	probably damaging	Het
Senp6	T	A	9: 80,021,088 (GRCm39)	V256D	probably benign	Het
Sf3b4	G	A	3: 96,084,044 (GRCm39)		probably benign	Het
Ssh1	T	C	5: 114,099,408 (GRCm39)		probably null	Het
Tas2r143	A	C	6: 42,377,769 (GRCm39)	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,098,830 (GRCm39)	P19S	probably damaging	Het
Tent5b	T	C	4: 133,214,067 (GRCm39)	F313L	probably damaging	Het
Tmc5	T	A	7: 118,233,189 (GRCm39)	M1K	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,468,866 (GRCm39)	E285G	probably damaging	Het
Txndc11	C	T	16: 10,902,656 (GRCm39)	V664M	probably damaging	Het
Ufl1	T	A	4: 25,265,476 (GRCm39)	I369L	probably benign	Het
Vwf	A	T	6: 125,660,489 (GRCm39)	T2666S	probably benign	Het
Yif1a	A	G	19: 5,142,369 (GRCm39)	M259V	probably benign	Het
Zbtb46	T	C	2: 181,033,248 (GRCm39)	D471G	probably damaging	Het

Other mutations in Ube2g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Amore	UTSW	11	72,553,943 (GRCm39)	start gained	probably benign
oboe	UTSW	11	72,568,591 (GRCm39)	missense	probably benign	0.04
R0408:Ube2g1	UTSW	11	72,563,791 (GRCm39)	missense	probably damaging	1.00
R7270:Ube2g1	UTSW	11	72,553,939 (GRCm39)	missense	possibly damaging	0.59
R8065:Ube2g1	UTSW	11	72,568,591 (GRCm39)	missense	probably benign	0.04
R9375:Ube2g1	UTSW	11	72,553,943 (GRCm39)	start gained	probably benign
R9749:Ube2g1	UTSW	11	72,570,199 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- GTTGATGTAACCATGGCTTCCTTG -3'
(R):5'- CTCTACACATGATCAAATCGAGATG -3'

Sequencing Primer
(F):5'- AACCATGGCTTCCTTGTTGTATG -3'
(R):5'- CCATTTTGTTTGCTCCTTTAAAATTG -3'

Posted On

2018-04-27