Mutagenetix > Incidental Mutation

Incidental Mutation 'P4717OSA:Ube2e2'

44003

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 #

P4717OSA (G1) of strain 634

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

100% (27/27)

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	A	T	11: 3,888,178 (GRCm39)		probably null	Het
Acsm5	A	T	7: 119,131,195 (GRCm39)	E204D	probably benign	Het
Ahi1	G	C	10: 20,848,009 (GRCm39)	R472S	probably damaging	Het
Bbof1	G	A	12: 84,473,734 (GRCm39)	A355T	probably damaging	Het
Capn10	G	T	1: 92,867,116 (GRCm39)	Q115H	probably damaging	Het
Clec4n	A	C	6: 123,221,499 (GRCm39)	Q114H	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Depdc1a	T	C	3: 159,228,184 (GRCm39)	V312A	probably damaging	Het
Gbp2	T	C	3: 142,336,357 (GRCm39)	F236L	possibly damaging	Het
Glb1l2	A	G	9: 26,677,317 (GRCm39)	I527T	probably damaging	Het
Hhla1	A	G	15: 65,795,850 (GRCm39)	L452P	probably damaging	Het
Mcoln3	T	G	3: 145,830,504 (GRCm39)	V78G	probably damaging	Het
Mylk	T	A	16: 34,797,483 (GRCm39)		probably benign	Het
Nxpe2	T	A	9: 48,237,677 (GRCm39)	M193L	probably benign	Het
Olig1	A	T	16: 91,066,877 (GRCm39)	Y38F	probably damaging	Het
Pkhd1l1	T	C	15: 44,386,895 (GRCm39)	V1256A	probably benign	Het
Pkhd1l1	A	T	15: 44,391,643 (GRCm39)	I1570F	probably damaging	Het
Prss12	T	C	3: 123,241,267 (GRCm39)	Y154H	probably damaging	Het
Rbp3	A	G	14: 33,677,456 (GRCm39)	D468G	probably damaging	Het
Relt	G	A	7: 100,496,788 (GRCm39)	R360C	probably damaging	Het
Tmed4	T	C	11: 6,223,727 (GRCm39)		probably benign	Het
Trhr	C	A	15: 44,060,831 (GRCm39)	T117K	probably damaging	Het

Other mutations in Ube2e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P4748: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'- GAGCAGTACAACAGGACCTTCGAC -3'

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

Posted On

2013-05-31