Mutagenetix > Incidental Mutation

Incidental Mutation 'R7831:Ube2g2'

605637

Institutional Source

Beutler Lab

Gene Symbol

Ube2g2

Ensembl Gene

ENSMUSG00000009293

Gene Name

ubiquitin-conjugating enzyme E2G 2

Synonyms

UBC7, D10Xrf369, 1110003O05Rik, Ubc7p

MMRRC Submission

045885-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.724) question?

Stock #

R7831 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77458155-77481824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77470576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 68 (T68A)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172813] [ENSMUST00000174113] [ENSMUST00000174510] [ENSMUST00000174546]

AlphaFold

P60605

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134397
Gene: ENSMUSG00000009293
AA Change: T68A

Domain	Start	End	E-Value	Type
SCOP:d2ucz__	2	41	7e-12	SMART
PDB:3H8K\|A	2	96	3e-24	PDB
Blast:UBCc	6	96	3e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172813

SMART Domains

Protein: ENSMUSP00000134670
Gene: ENSMUSG00000009293

Domain	Start	End	E-Value	Type
UBCc	1	70	1.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174113

SMART Domains

Protein: ENSMUSP00000134357
Gene: ENSMUSG00000112241

Domain	Start	End	E-Value	Type
UBQ	17	74	4.07e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174510

SMART Domains

Protein: ENSMUSP00000133515
Gene: ENSMUSG00000009293

Domain	Start	End	E-Value	Type
UBCc	7	164	1.33e-64	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174546

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (87/87)

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. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,247,404 (GRCm39)	V2384I	possibly damaging	Het
Acsl1	A	G	8: 46,972,043 (GRCm39)	D297G	probably benign	Het
Ap2a1	C	A	7: 44,550,436 (GRCm39)	R944L	probably damaging	Het
Apbb1ip	A	G	2: 22,756,933 (GRCm39)	Y398C	probably damaging	Het
Atp8a2	A	T	14: 60,011,202 (GRCm39)	V968D	probably damaging	Het
Becn1	T	C	11: 101,181,279 (GRCm39)	T341A	probably benign	Het
Card11	G	T	5: 140,859,167 (GRCm39)	S1126R	possibly damaging	Het
Ccdc51	T	C	9: 108,921,058 (GRCm39)	L315S	probably damaging	Het
Cdk12	T	C	11: 98,140,653 (GRCm39)	L1298P	unknown	Het
Cep170b	A	T	12: 112,711,234 (GRCm39)	D1538V	probably benign	Het
Cfap52	A	T	11: 67,826,782 (GRCm39)	F348I	possibly damaging	Het
Clip1	A	T	5: 123,751,342 (GRCm39)	M813K		Het
Col19a1	G	A	1: 24,565,563 (GRCm39)	T256I	unknown	Het
Col6a3	A	T	1: 90,724,268 (GRCm39)	C2027*	probably null	Het
Crisp4	A	T	1: 18,199,013 (GRCm39)	N140K	probably benign	Het
Crocc2	G	T	1: 93,143,195 (GRCm39)	A1266S	probably benign	Het
Cyfip2	G	A	11: 46,087,273 (GRCm39)	R1206C	probably damaging	Het
Cyp24a1	T	A	2: 170,327,860 (GRCm39)	M461L	probably damaging	Het
Cyp2a5	C	T	7: 26,534,940 (GRCm39)	T51I	possibly damaging	Het
Cyp2b19	C	T	7: 26,466,565 (GRCm39)	H398Y	possibly damaging	Het
Cyp4a29	G	A	4: 115,107,367 (GRCm39)	V234I	probably benign	Het
Dicer1	T	G	12: 104,675,059 (GRCm39)	K734N	probably damaging	Het
Dnai1	T	C	4: 41,614,695 (GRCm39)		probably null	Het
Entpd3	G	A	9: 120,373,025 (GRCm39)	G14D	probably damaging	Het
Entrep3	G	A	3: 89,091,520 (GRCm39)		probably null	Het
Ermp1	T	C	19: 29,595,367 (GRCm39)	T634A	probably benign	Het
Evc	C	T	5: 37,476,427 (GRCm39)	G374D	probably damaging	Het
Fcgbp	C	A	7: 27,806,404 (GRCm39)	T2124K	probably damaging	Het
Fgf8	G	A	19: 45,730,876 (GRCm39)	P50S	probably benign	Het
Fmnl1	C	T	11: 103,088,999 (GRCm39)	R1074W	unknown	Het
Galnt18	C	T	7: 111,155,665 (GRCm39)	V223M	possibly damaging	Het
Galnt2	A	G	8: 125,058,817 (GRCm39)	N295S	probably benign	Het
Grip1	T	G	10: 119,854,011 (GRCm39)	V600G	probably damaging	Het
Insm2	T	A	12: 55,647,323 (GRCm39)	C356S	probably damaging	Het
Itpr2	T	A	6: 146,193,082 (GRCm39)	I1672F	probably benign	Het
Kdm1b	T	G	13: 47,204,098 (GRCm39)	N76K	probably benign	Het
Khnyn	T	A	14: 56,125,303 (GRCm39)		probably null	Het
Kidins220	C	T	12: 25,111,230 (GRCm39)	A1167V	possibly damaging	Het
Krt40	T	C	11: 99,432,087 (GRCm39)	D208G	probably benign	Het
Lars1	T	A	18: 42,350,627 (GRCm39)	D894V	probably benign	Het
Lmx1a	A	T	1: 167,668,521 (GRCm39)	N266I	probably benign	Het
Mrgprb5	T	A	7: 47,817,997 (GRCm39)	K246M	probably benign	Het
Mrpl2	G	A	17: 46,959,598 (GRCm39)	G176R	possibly damaging	Het
Muc21	T	A	17: 35,929,651 (GRCm39)	T1512S	unknown	Het
Nell1	T	A	7: 49,632,548 (GRCm39)	F60L	possibly damaging	Het
Nnt	G	A	13: 119,506,630 (GRCm39)	A453V	possibly damaging	Het
Opa1	A	G	16: 29,467,755 (GRCm39)	K940R	probably benign	Het
Opn5	A	C	17: 42,891,510 (GRCm39)	I309S	probably null	Het
Or1af1	C	T	2: 37,109,723 (GRCm39)	T74I	probably damaging	Het
Or1r1	A	C	11: 73,875,257 (GRCm39)	M59R	probably damaging	Het
Or2ag15	T	A	7: 106,340,620 (GRCm39)	I174F	probably damaging	Het
P3h3	T	G	6: 124,832,118 (GRCm39)	E256A	possibly damaging	Het
Pald1	G	T	10: 61,191,593 (GRCm39)	T65K	probably damaging	Het
Pcnx3	T	C	19: 5,735,989 (GRCm39)	Y279C	probably damaging	Het
Pik3c2b	G	A	1: 132,998,980 (GRCm39)	S367N	possibly damaging	Het
Pik3cb	T	C	9: 98,970,666 (GRCm39)	T342A	probably benign	Het
Pkd1l3	A	T	8: 110,357,990 (GRCm39)	E837D	possibly damaging	Het
Ppp2r2b	T	A	18: 42,834,597 (GRCm39)	Y191F	probably benign	Het
Ppp4r4	G	A	12: 103,557,080 (GRCm39)	E439K	possibly damaging	Het
Ptprk	A	G	10: 28,444,404 (GRCm39)	I946V	possibly damaging	Het
Ror1	A	G	4: 100,298,295 (GRCm39)	N556S	probably benign	Het
Ryr3	C	T	2: 112,757,183 (GRCm39)	A391T	possibly damaging	Het
Selp	G	A	1: 163,972,584 (GRCm39)		probably null	Het
Setx	T	A	2: 29,069,866 (GRCm39)	V2557E	possibly damaging	Het
Setx	T	C	2: 29,047,120 (GRCm39)	L1866S	probably damaging	Het
Slc66a3	T	A	12: 17,047,632 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Sorbs3	T	G	14: 70,440,481 (GRCm39)	N89T	possibly damaging	Het
Sorl1	C	A	9: 42,001,257 (GRCm39)	V248L	probably benign	Het
Srebf2	T	A	15: 82,066,288 (GRCm39)	V612E	probably damaging	Het
Sv2c	T	A	13: 96,113,200 (GRCm39)	Y583F	probably damaging	Het
Tada1	G	T	1: 166,217,442 (GRCm39)	R193I	probably damaging	Het
Tnrc6b	C	G	15: 80,764,580 (GRCm39)	A694G	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,711,425 (GRCm39)	G8372D	unknown	Het
Ubl7	T	G	9: 57,821,918 (GRCm39)	V89G	possibly damaging	Het
Ush2a	T	A	1: 188,492,038 (GRCm39)	I3109N	probably damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r26	T	A	6: 124,016,758 (GRCm39)	Y407*	probably null	Het
Yod1	G	T	1: 130,646,986 (GRCm39)	V288F	probably damaging	Het
Zbed5	A	C	5: 129,930,798 (GRCm39)	N249T	possibly damaging	Het
Zbtb5	T	C	4: 44,995,244 (GRCm39)	T47A	probably damaging	Het
Zcchc14	T	C	8: 122,331,984 (GRCm39)	T460A	not run	Het
Zfp712	A	C	13: 67,200,483 (GRCm39)		probably null	Het
Zfyve16	A	T	13: 92,658,836 (GRCm39)	H358Q	probably benign	Het

Other mutations in Ube2g2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03348:Ube2g2	APN	10	77,466,711 (GRCm39)	missense	probably benign	0.05
R0180:Ube2g2	UTSW	10	77,466,573 (GRCm39)	missense	possibly damaging	0.87
R5299:Ube2g2	UTSW	10	77,480,379 (GRCm39)	missense	possibly damaging	0.92
R6077:Ube2g2	UTSW	10	77,458,139 (GRCm39)	unclassified	probably benign
R6454:Ube2g2	UTSW	10	77,470,580 (GRCm39)	intron	probably benign
R9004:Ube2g2	UTSW	10	77,479,434 (GRCm39)	missense	probably benign	0.04
R9751:Ube2g2	UTSW	10	77,480,307 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCATCCATGGGTGTAGAAGC -3'
(R):5'- AGCCTCTATCTACACGGGAC -3'

Sequencing Primer
(F):5'- AGAACAGCTGAGCTCTCTTTAG -3'
(R):5'- TGTGCAGAGCCACAGTGAC -3'

Posted On

2019-12-20