Mutagenetix > Incidental Mutation

Incidental Mutation 'P4748:Ube2e2'

26551

Institutional Source

Beutler Lab

Gene Symbol

Ube2e2

Ensembl Gene

ENSMUSG00000058317

Gene Name

ubiquitin-conjugating enzyme E2E 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P4748 () of strain 712

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

3575429-3896121 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 18630297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076133] [ENSMUST00000076133] [ENSMUST00000124353] [ENSMUST00000150727] [ENSMUST00000151926] [ENSMUST00000175643] [ENSMUST00000176555] [ENSMUST00000176843]

AlphaFold

Q91W82

Predicted Effect

probably null
Transcript: ENSMUST00000076133

SMART Domains

Protein: ENSMUSP00000075495
Gene: ENSMUSG00000058317

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
UBCc	58	201	2.41e-71	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000076133

SMART Domains

Protein: ENSMUSP00000075495
Gene: ENSMUSG00000058317

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
UBCc	58	201	2.41e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124353

SMART Domains

Protein: ENSMUSP00000114162
Gene: ENSMUSG00000058317

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
Pfam:UQ_con	59	108	1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135381

Predicted Effect

probably null
Transcript: ENSMUST00000150727

SMART Domains

Protein: ENSMUSP00000115738
Gene: ENSMUSG00000058317

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
UBCc	58	201	2.41e-71	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000151926

SMART Domains

Protein: ENSMUSP00000118321
Gene: ENSMUSG00000058317

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
UBCc	82	181	6.81e-30	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000175643

SMART Domains

Protein: ENSMUSP00000135674
Gene: ENSMUSG00000058317

Domain	Start	End	E-Value	Type
UBCc	10	167	9.19e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176555

SMART Domains

Protein: ENSMUSP00000134919
Gene: ENSMUSG00000058317

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
PDB:3BZH\|A	28	84	8e-6	PDB
SCOP:d2e2c__	49	85	5e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000176843

SMART Domains

Protein: ENSMUSP00000135622
Gene: ENSMUSG00000058317

Domain	Start	End	E-Value	Type
UBCc	7	146	1.09e-37	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177259

SMART Domains

Protein: ENSMUSP00000135573
Gene: ENSMUSG00000058317

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
Pfam:UQ_con	59	118	1.9e-10	PFAM

Meta Mutation Damage Score

0.9479

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.5%
20x: 94.5%

Validation Efficiency

87% (26/30)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930556J24Rik	A	T	11: 3,888,178 (GRCm39)		probably null	Het
Acoxl	T	C	2: 127,928,264 (GRCm39)		probably benign	Het
Ahi1	G	C	10: 20,848,009 (GRCm39)	R472S	probably damaging	Het
Akap10	A	G	11: 61,763,846 (GRCm39)	L662P	possibly damaging	Het
Arhgef10	C	T	8: 14,978,925 (GRCm39)	T64M	possibly damaging	Het
Ccr4	C	T	9: 114,321,906 (GRCm39)	G53D	probably damaging	Het
Cdc25a	T	C	9: 109,713,176 (GRCm39)		probably benign	Het
Clec4n	A	C	6: 123,221,499 (GRCm39)	Q114H	probably damaging	Het
Cmya5	A	G	13: 93,210,983 (GRCm39)		probably benign	Het
Depdc1a	T	C	3: 159,228,184 (GRCm39)	V312A	probably damaging	Het
Ephb6	C	T	6: 41,594,219 (GRCm39)	P583L	probably damaging	Het
Klra8	A	T	6: 130,099,007 (GRCm39)	D185E	possibly damaging	Het
Meis2	T	A	2: 115,694,961 (GRCm39)	Q394L	probably benign	Het
Or2t47	G	A	11: 58,442,348 (GRCm39)	T239I	probably damaging	Het
Pzp	C	T	6: 128,467,052 (GRCm39)	G1107D	probably damaging	Het
Ralgapa2	C	T	2: 146,188,731 (GRCm39)	W1350*	probably null	Het
Scand1	C	A	2: 156,153,865 (GRCm39)	R135L	probably damaging	Het
Spopl	A	T	2: 23,401,455 (GRCm39)	M351K	probably benign	Het
Tmed4	T	C	11: 6,223,727 (GRCm39)		probably benign	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp51	GATGCAT	GAT	X: 151,791,227 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,031 (GRCm39)	D425E	probably damaging	Het

Other mutations in Ube2e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P4717OSA:Ube2e2	UTSW	14	18,630,297 (GRCm38)	critical splice donor site	probably null
R0717:Ube2e2	UTSW	14	18,888,435 (GRCm38)	missense	probably benign	0.00
R0799:Ube2e2	UTSW	14	18,630,393 (GRCm38)	nonsense	probably null
R1671:Ube2e2	UTSW	14	18,586,889 (GRCm38)	missense	probably damaging	1.00
R2973:Ube2e2	UTSW	14	18,630,321 (GRCm38)	missense	possibly damaging	0.96
R5941:Ube2e2	UTSW	14	18,586,910 (GRCm38)	missense	probably damaging	1.00
R7397:Ube2e2	UTSW	14	18,630,339 (GRCm38)	missense	probably damaging	1.00
R7657:Ube2e2	UTSW	14	18,586,997 (GRCm38)	missense	probably benign	0.30
R8027:Ube2e2	UTSW	14	18,574,317 (GRCm38)	missense	possibly damaging	0.54
R9094:Ube2e2	UTSW	14	18,893,288 (GRCm38)	missense	unknown
X0018:Ube2e2	UTSW	14	18,586,923 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGACCCTGGAGTAATTCCAC -3'
(R):5'- GTACAACAGGACCTTCGACTCTGC -3'

Sequencing Primer
(F):5'- CACTTACATGGCTGGAATATGG -3'
(R):5'- CGACTCTGCTGGATTACATAATGC -3'

Posted On

2013-04-16