Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Ube2v1'

489170

Institutional Source

Beutler Lab

Gene Symbol

Ube2v1

Ensembl Gene

ENSMUSG00000078923

Gene Name

ubiquitin-conjugating enzyme E2 variant 1

Synonyms

D7Bwg1382e, CROC1, 0610011J09Rik

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

167449559-167473933 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 167459874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 42 (R42*)

Ref Sequence

ENSEMBL: ENSMUSP00000114764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060645] [ENSMUST00000109207] [ENSMUST00000125544] [ENSMUST00000140216] [ENSMUST00000151365]

AlphaFold

Q9CZY3

Predicted Effect

probably null
Transcript: ENSMUST00000060645
AA Change: R16*

SMART Domains

Protein: ENSMUSP00000053109
Gene: ENSMUSG00000078923
AA Change: R16*

Domain	Start	End	E-Value	Type
PDB:2C2V\|L	7	105	7e-59	PDB
SCOP:d1jatb_	10	103	4e-31	SMART
Blast:UBCc	15	105	1e-54	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000109207
AA Change: R16*

SMART Domains

Protein: ENSMUSP00000104830
Gene: ENSMUSG00000078923
AA Change: R16*

Domain	Start	End	E-Value	Type
UBCc	15	147	1.53e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000125544
AA Change: R240*

SMART Domains

Protein: ENSMUSP00000118416
Gene: ENSMUSG00000089739
AA Change: R240*

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC
low complexity region	76	88	N/A	INTRINSIC
UBCc	239	371	1.53e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130284

Predicted Effect

probably null
Transcript: ENSMUST00000140216
AA Change: R43*

SMART Domains

Protein: ENSMUSP00000116578
Gene: ENSMUSG00000078923
AA Change: R43*

Domain	Start	End	E-Value	Type
UBCc	42	125	6.78e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144830

Predicted Effect

probably null
Transcript: ENSMUST00000151365
AA Change: R42*

SMART Domains

Protein: ENSMUSP00000114764
Gene: ENSMUSG00000078923
AA Change: R42*

Domain	Start	End	E-Value	Type
UBCc	41	173	1.53e-14	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,104,334 (GRCm39)	T74A	probably benign	Het
Arhgef1	T	C	7: 24,618,782 (GRCm39)		probably null	Het
Art1	C	G	7: 101,756,294 (GRCm39)	R162G	probably benign	Het
Boll	T	A	1: 55,309,812 (GRCm39)	I280F	possibly damaging	Het
Cep44	T	C	8: 56,992,840 (GRCm39)	E258G	probably benign	Het
Cutc	T	A	19: 43,748,328 (GRCm39)	V75E	probably damaging	Het
Dtx1	T	C	5: 120,819,428 (GRCm39)	K590R	probably damaging	Het
Eps8	A	T	6: 137,494,172 (GRCm39)	D295E	probably damaging	Het
Erc2	C	A	14: 27,863,248 (GRCm39)	S491Y	probably damaging	Het
F2rl3	G	T	8: 73,489,366 (GRCm39)	A198S	probably benign	Het
Fam83b	G	A	9: 76,399,639 (GRCm39)	T488M	probably damaging	Het
Fitm2	A	G	2: 163,311,994 (GRCm39)	L73P	probably damaging	Het
Fxyd1	T	C	7: 30,754,228 (GRCm39)		probably null	Het
Gm17186	T	C	14: 51,918,183 (GRCm39)		noncoding transcript	Het
Hivep3	C	A	4: 119,591,274 (GRCm39)	S94*	probably null	Het
Ifna1	T	A	4: 88,768,349 (GRCm39)	M9K	probably null	Het
Igsf11	G	A	16: 38,843,711 (GRCm39)	E275K	probably damaging	Het
Itga1	G	A	13: 115,104,769 (GRCm39)	L1086F	probably benign	Het
Itgav	T	C	2: 83,606,780 (GRCm39)	S374P	probably benign	Het
Jmy	A	T	13: 93,577,641 (GRCm39)	N842K	probably benign	Het
Kcnh6	G	A	11: 105,911,557 (GRCm39)	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,989,088 (GRCm39)	I823N	probably damaging	Het
Kif26b	T	C	1: 178,743,111 (GRCm39)	L1069P	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,287,902 (GRCm39)		probably benign	Het
Map10	G	A	8: 126,398,328 (GRCm39)	D574N	probably damaging	Het
Mau2	A	T	8: 70,472,487 (GRCm39)	H565Q	probably benign	Het
Myb	A	G	10: 21,017,668 (GRCm39)	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,606,214 (GRCm39)	G15V	probably null	Het
Or10k2	G	A	8: 84,267,782 (GRCm39)	C3Y	probably benign	Het
Or3a4	A	C	11: 73,945,145 (GRCm39)	S147A	probably benign	Het
Or6c210	A	G	10: 129,495,803 (GRCm39)	I43V	probably benign	Het
Or7d11	A	T	9: 19,966,170 (GRCm39)	N78K	probably benign	Het
Otog	A	G	7: 45,913,483 (GRCm39)	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,100,045 (GRCm39)	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,942,137 (GRCm39)		probably null	Het
Pomk	A	G	8: 26,473,284 (GRCm39)	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Serpina1e	A	G	12: 103,917,066 (GRCm39)	V201A	probably benign	Het
Six5	C	T	7: 18,831,446 (GRCm39)	P646S	probably benign	Het
Slc17a9	A	G	2: 180,379,421 (GRCm39)	I298V	probably benign	Het
Slc37a2	G	T	9: 37,149,643 (GRCm39)	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,222,579 (GRCm39)	F525I	probably benign	Het
Slit2	A	T	5: 48,461,516 (GRCm39)	D1504V	probably damaging	Het
Srcap	T	A	7: 127,134,000 (GRCm39)	M907K	probably damaging	Het
Sspo	T	C	6: 48,463,313 (GRCm39)	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,271,501 (GRCm39)	N376K	possibly damaging	Het
Tekt3	A	T	11: 62,985,483 (GRCm39)	T430S	possibly damaging	Het
Tex2	A	T	11: 106,457,906 (GRCm39)	V508D	probably benign	Het
Tmem184c	G	T	8: 78,323,069 (GRCm39)	Q598K	probably benign	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vangl1	T	C	3: 102,091,835 (GRCm39)	T84A	probably damaging	Het
Vgll3	T	A	16: 65,625,064 (GRCm39)		probably null	Het
Vmn1r61	T	A	7: 5,613,678 (GRCm39)	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,510,269 (GRCm39)	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,789,555 (GRCm39)	D727E	probably damaging	Het
Vps18	T	A	2: 119,128,073 (GRCm39)	Y965*	probably null	Het
Zfp521	A	T	18: 13,977,135 (GRCm39)	C1093S	probably damaging	Het
Zfp971	A	C	2: 177,675,247 (GRCm39)	H282P	probably benign	Het

Other mutations in Ube2v1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
ANU74:Ube2v1	UTSW	2	167,452,264 (GRCm39)	missense	probably damaging	1.00
R1219:Ube2v1	UTSW	2	167,459,831 (GRCm39)	missense	probably benign	0.20
R2862:Ube2v1	UTSW	2	167,459,885 (GRCm39)	missense	probably damaging	1.00
R2971:Ube2v1	UTSW	2	167,452,256 (GRCm39)	missense	probably damaging	1.00
R4666:Ube2v1	UTSW	2	167,452,297 (GRCm39)	missense	probably damaging	1.00
R4894:Ube2v1	UTSW	2	167,452,280 (GRCm39)	missense	probably damaging	0.99
R7260:Ube2v1	UTSW	2	167,471,114 (GRCm39)	missense	probably benign	0.02
R7356:Ube2v1	UTSW	2	167,451,115 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGCTTTAAGGAAAGGCACAGTG -3'
(R):5'- TTGGCATTCCTCTCAGCCAG -3'

Sequencing Primer
(F):5'- AGGCACAGTGAGCTTAACTC -3'
(R):5'- CTAAACGGGGTGGGGCAC -3'

Posted On

2017-10-10