Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU74:Ube2v1'

262680

Institutional Source

Beutler Lab

Gene Symbol

Ube2v1

Ensembl Gene

ENSMUSG00000078923

Gene Name

ubiquitin-conjugating enzyme E2 variant 1

Synonyms

D7Bwg1382e, CROC1, 0610011J09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

ANU74

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

167449559-167473933 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 167452264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 113 (T113I)

Ref Sequence

ENSEMBL: ENSMUSP00000116578 (fasta)

Gene Model

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

AlphaFold

Q9CZY3

Predicted Effect

probably benign
Transcript: ENSMUST00000060645

SMART Domains

Protein: ENSMUSP00000053109
Gene: ENSMUSG00000078923

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 damaging
Transcript: ENSMUST00000109207
AA Change: T86I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104830
Gene: ENSMUSG00000078923
AA Change: T86I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125544
AA Change: T310I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118416
Gene: ENSMUSG00000089739
AA Change: T310I

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: ENSMUST00000127006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130284

Predicted Effect

probably damaging
Transcript: ENSMUST00000140216
AA Change: T113I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116578
Gene: ENSMUSG00000078923
AA Change: T113I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144628

Predicted Effect

probably damaging
Transcript: ENSMUST00000151365
AA Change: T112I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114764
Gene: ENSMUSG00000078923
AA Change: T112I

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	G	A	5: 50,118,380 (GRCm39)	S1056L	probably benign	Het
Ankrd26	A	T	6: 118,529,736 (GRCm39)	D236E	probably benign	Het
Capn15	C	T	17: 26,184,460 (GRCm39)	W7*	probably null	Het
Celsr2	G	A	3: 108,319,815 (GRCm39)	T999M	probably damaging	Het
Chrd	T	A	16: 20,560,069 (GRCm39)	M912K	possibly damaging	Het
Col9a1	A	G	1: 24,224,409 (GRCm39)	D197G	unknown	Het
Csf1r	A	G	18: 61,250,463 (GRCm39)	E431G	probably benign	Het
Eloc	A	G	1: 16,713,574 (GRCm39)	F115L	possibly damaging	Het
Fap	T	C	2: 62,378,113 (GRCm39)	D193G	probably damaging	Het
Fscn2	T	C	11: 120,253,162 (GRCm39)	Y210H	probably damaging	Het
Fut9	G	C	4: 25,620,802 (GRCm39)	T4R	probably benign	Het
Grb2	A	T	11: 115,536,733 (GRCm39)	D131E	probably benign	Het
Hecw2	T	C	1: 53,964,853 (GRCm39)	T658A	probably benign	Het
Helz2	T	C	2: 180,876,627 (GRCm39)	E1289G	probably benign	Het
Hyou1	A	G	9: 44,292,560 (GRCm39)	N92D	possibly damaging	Het
Irf8	A	C	8: 121,466,608 (GRCm39)	I18L	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,089,660 (GRCm39)		probably benign	Het
Kif12	GC	"GCCTCCACCCGGCGGTC,GCC"	4: 63,089,663 (GRCm39)		probably null	Het
Lamc2	A	C	1: 153,007,581 (GRCm39)	D864E	probably benign	Het
Map3k4	A	G	17: 12,451,863 (GRCm39)	V1475A	probably damaging	Het
Mapk8ip3	A	C	17: 25,119,551 (GRCm39)	M1030R	possibly damaging	Het
Mat1a	A	G	14: 40,833,099 (GRCm39)	D94G	probably benign	Het
Myh15	T	A	16: 48,993,295 (GRCm39)	D1643E	possibly damaging	Het
Myo15b	T	C	11: 115,769,239 (GRCm39)	F55L	probably damaging	Het
Nhlh2	A	T	3: 101,919,970 (GRCm39)	M1L	probably benign	Het
Nup214	T	C	2: 31,924,978 (GRCm39)	S1836P	probably damaging	Het
Olr1	G	A	6: 129,477,032 (GRCm39)	R78C	possibly damaging	Het
Or5m9	T	A	2: 85,877,655 (GRCm39)	Y276*	probably null	Het
Pam16	C	A	16: 4,434,497 (GRCm39)	V98F	probably damaging	Het
Pelp1	C	T	11: 70,285,913 (GRCm39)	V652I	probably damaging	Het
Pole	A	G	5: 110,437,236 (GRCm39)	H67R	probably benign	Het
Rbms1	G	T	2: 60,628,060 (GRCm39)	A60E	probably damaging	Het
Recql4	A	T	15: 76,589,957 (GRCm39)	M789K	possibly damaging	Het
Rrn3	T	C	16: 13,629,397 (GRCm39)	F571S	possibly damaging	Het
Ryr3	T	C	2: 112,661,575 (GRCm39)		probably null	Het
Sec61b	C	A	4: 47,474,922 (GRCm39)	N26K	possibly damaging	Het
Serinc1	T	C	10: 57,395,938 (GRCm39)	E284G	probably benign	Het
Slc30a9	G	A	5: 67,507,195 (GRCm39)	D496N	probably damaging	Het
Slc44a4	G	A	17: 35,140,554 (GRCm39)	R249H	probably damaging	Het
Slc6a13	A	C	6: 121,311,835 (GRCm39)	D404A	probably benign	Het
Spata18	A	G	5: 73,828,456 (GRCm39)	E225G	probably damaging	Het
Sspo	G	A	6: 48,437,893 (GRCm39)	G1351S	probably damaging	Het
Tgm3	T	C	2: 129,890,310 (GRCm39)	V691A	probably damaging	Het
Tns3	C	T	11: 8,442,149 (GRCm39)	R738Q	probably benign	Het
Tyk2	A	T	9: 21,027,454 (GRCm39)	I506N	probably damaging	Het
Vmn1r177	A	G	7: 23,565,645 (GRCm39)	V77A	possibly damaging	Het
Vmn2r14	A	T	5: 109,366,910 (GRCm39)	S437T	probably benign	Het
Vmn2r78	G	C	7: 86,570,273 (GRCm39)	V264L	possibly damaging	Het
Zfp956	T	G	6: 47,940,507 (GRCm39)	Y289D	probably benign	Het

Other mutations in Ube2v1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6150:Ube2v1	UTSW	2	167,459,874 (GRCm39)	nonsense	probably null
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'- GAATAGTTCTGCCTCAGCCCCAAC -3'
(R):5'- GGTCGGACTCATTGACACTTAACCC -3'

Sequencing Primer
(F):5'- atccgtctgcctctgcc -3'
(R):5'- GCTTCCGTCTCTGAGGCAC -3'

Posted On

2015-02-04