Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Ube2d2b'

8134

Institutional Source

Beutler Lab

Gene Symbol

Ube2d2b

Ensembl Gene

ENSMUSG00000063447

Gene Name

ubiquitin-conjugating enzyme E2D 2B

Synonyms

1700013N18Rik

MMRRC Submission

038305-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

107830099-107831776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107830636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 51 (F51S)

Ref Sequence

ENSEMBL: ENSMUSP00000072387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072578] [ENSMUST00000112642] [ENSMUST00000124034] [ENSMUST00000128723] [ENSMUST00000138111] [ENSMUST00000155955]

AlphaFold

Q6ZWY6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072578
AA Change: F51S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072387
Gene: ENSMUSG00000063447
AA Change: F51S

Domain	Start	End	E-Value	Type
UBCc	4	147	3.7e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112642

SMART Domains

Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
low complexity region	51	80	N/A	INTRINSIC
Blast:TBC	81	157	2e-16	BLAST
TBC	160	371	7.92e-91	SMART
internal_repeat_1	450	477	8.83e-6	PROSPERO
internal_repeat_1	494	521	8.83e-6	PROSPERO
coiled coil region	555	717	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124034

SMART Domains

Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC
Blast:TBC	37	113	3e-17	BLAST
TBC	116	327	7.92e-91	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127579

Predicted Effect

probably benign
Transcript: ENSMUST00000128723

SMART Domains

Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC
Blast:TBC	37	113	2e-16	BLAST
TBC	116	327	7.92e-91	SMART
internal_repeat_1	466	493	2.66e-6	PROSPERO
internal_repeat_1	510	537	2.66e-6	PROSPERO
coiled coil region	571	660	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132482

Predicted Effect

probably benign
Transcript: ENSMUST00000138111

SMART Domains

Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC
Blast:TBC	37	113	3e-17	BLAST
TBC	116	327	7.92e-91	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141673

Predicted Effect

probably benign
Transcript: ENSMUST00000155955

SMART Domains

Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
Blast:TBC	18	133	3e-20	BLAST
Pfam:RabGAP-TBC	150	222	1.6e-11	PFAM

Meta Mutation Damage Score

0.7116

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,792,403	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
BC037034	T	C	5: 138,260,293		probably null	Het
Cd74	A	T	18: 60,809,071	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,243,459	E270G	probably benign	Het
Cldnd1	T	A	16: 58,731,259		probably benign	Het
Dennd4a	T	C	9: 64,896,715	L1112P	probably benign	Het
Evc2	T	A	5: 37,417,449	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,622,032	K16R	probably damaging	Het
Frem1	T	C	4: 83,000,098	I536V	probably benign	Het
Ginm1	T	C	10: 7,775,374		probably benign	Het
Glrb	A	T	3: 80,860,315		probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10320	T	C	13: 98,489,546	Y110C	probably damaging	Het
Intu	T	C	3: 40,654,272		probably benign	Het
Ltbp1	A	G	17: 75,363,391	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Mitf	A	G	6: 97,807,281	K33R	probably benign	Het
Nlgn1	G	T	3: 25,435,842		probably benign	Het
Nup133	A	T	8: 123,904,579	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573	V958A	probably damaging	Het
Sgk1	G	A	10: 21,997,438		probably null	Het
Shprh	C	T	10: 11,151,931	T94I	probably benign	Het
Smg1	A	T	7: 118,171,859		probably benign	Het
Spta1	G	A	1: 174,217,943	V1556I	probably benign	Het
Trappc4	G	A	9: 44,405,231		probably benign	Het
Txlna	T	G	4: 129,629,086	D487A	probably benign	Het
Wdfy3	T	C	5: 101,848,349	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,423,530	V127G	probably damaging	Het
Zfp608	A	T	18: 54,895,214		probably benign	Het

Other mutations in Ube2d2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02985:Ube2d2b	APN	5	107830797	missense	probably damaging	1.00
R0010:Ube2d2b	UTSW	5	107830636	missense	possibly damaging	0.56
R0308:Ube2d2b	UTSW	5	107830908	missense	possibly damaging	0.67
R4151:Ube2d2b	UTSW	5	107830881	nonsense	probably null
R5907:Ube2d2b	UTSW	5	107830632	missense	probably damaging	1.00
R7124:Ube2d2b	UTSW	5	107830851	missense	probably benign	0.16
R9529:Ube2d2b	UTSW	5	107830572	missense	probably benign	0.00

Posted On

2012-11-20