Mutagenetix > Incidental Mutation

Incidental Mutation 'R0788:Ube2u'

76336

Institutional Source

Beutler Lab

Gene Symbol

Ube2u

Ensembl Gene

ENSMUSG00000069733

Gene Name

ubiquitin-conjugating enzyme E2U (putative)

Synonyms

MMRRC Submission

038968-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100336064-100407342 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 100371937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092730] [ENSMUST00000133493]

AlphaFold

B1AUC4

Predicted Effect

probably benign
Transcript: ENSMUST00000092730

SMART Domains

Protein: ENSMUSP00000090406
Gene: ENSMUSG00000069733

Domain	Start	End	E-Value	Type
Blast:UBCc	1	40	4e-17	BLAST
coiled coil region	147	189	N/A	INTRINSIC
low complexity region	196	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133493

SMART Domains

Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733

Domain	Start	End	E-Value	Type
UBCc	7	153	1.58e-25	SMART
coiled coil region	260	302	N/A	INTRINSIC
low complexity region	309	320	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,610,468 (GRCm39)	Y380*	probably null	Het
4931406B18Rik	C	A	7: 43,148,623 (GRCm39)	S196I	probably damaging	Het
Ablim2	T	C	5: 36,015,245 (GRCm39)	S519P	probably benign	Het
Adnp2	A	C	18: 80,173,219 (GRCm39)	C397G	probably benign	Het
Aldh1l2	A	G	10: 83,352,028 (GRCm39)	S156P	probably damaging	Het
Bcl2l15	G	T	3: 103,740,794 (GRCm39)		probably null	Het
Brd9	T	A	13: 74,092,986 (GRCm39)		probably benign	Het
Cars2	A	C	8: 11,579,672 (GRCm39)	I262R	possibly damaging	Het
Ccdc106	T	C	7: 5,060,533 (GRCm39)		probably benign	Het
Cdh3	G	A	8: 107,268,047 (GRCm39)	V361M	probably benign	Het
Cdhr1	A	C	14: 36,809,332 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,225,468 (GRCm39)	I559T	possibly damaging	Het
Cdkn2aip	T	A	8: 48,166,798 (GRCm39)	Q3L	possibly damaging	Het
Chd1	G	T	17: 15,927,376 (GRCm39)	V10F	possibly damaging	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Col6a4	T	C	9: 105,949,197 (GRCm39)	K813E	probably benign	Het
Cttnbp2	G	A	6: 18,423,834 (GRCm39)	T830I	probably damaging	Het
Cyp2t4	A	G	7: 26,854,588 (GRCm39)	M23V	probably null	Het
Cyp3a16	T	C	5: 145,401,886 (GRCm39)	K59E	probably benign	Het
Dpysl5	G	A	5: 30,946,185 (GRCm39)		probably null	Het
E130308A19Rik	T	A	4: 59,719,847 (GRCm39)	Y460N	possibly damaging	Het
Ear6	T	A	14: 52,091,487 (GRCm39)	C11*	probably null	Het
Fat1	C	T	8: 45,477,020 (GRCm39)	T1999M	probably benign	Het
Gsdmd	T	A	15: 75,736,103 (GRCm39)	C77*	probably null	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif28	A	T	1: 179,532,788 (GRCm39)		probably benign	Het
Krt6b	A	G	15: 101,585,954 (GRCm39)	I373T	probably damaging	Het
Lgr5	T	C	10: 115,288,902 (GRCm39)	T509A	probably damaging	Het
Mapkbp1	C	T	2: 119,854,482 (GRCm39)	P1354S	probably benign	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncoa2	T	C	1: 13,237,113 (GRCm39)		probably benign	Het
Necap1	C	T	6: 122,858,495 (GRCm39)	R113W	probably damaging	Het
Or1l4	T	A	2: 37,092,035 (GRCm39)	Y261N	possibly damaging	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Per1	G	A	11: 68,992,185 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,132,354 (GRCm39)	D130G	probably null	Het
Ppcs	T	C	4: 119,279,375 (GRCm39)	N59S	probably damaging	Het
Ppp2ca	A	G	11: 52,003,969 (GRCm39)	E42G	possibly damaging	Het
Ptprf	T	C	4: 118,083,663 (GRCm39)	T807A	probably damaging	Het
Rapgef2	A	C	3: 79,006,502 (GRCm39)	F284V	possibly damaging	Het
Sestd1	A	T	2: 77,022,060 (GRCm39)	F544I	probably damaging	Het
Slfn3	G	A	11: 83,103,662 (GRCm39)	G178S	possibly damaging	Het
Supt6	G	A	11: 78,098,598 (GRCm39)		probably benign	Het
Tas2r109	T	A	6: 132,957,264 (GRCm39)	Q222L	probably benign	Het
Tekt4	A	C	17: 25,691,021 (GRCm39)	D109A	probably damaging	Het
Tob2	C	A	15: 81,735,903 (GRCm39)	R22L	probably damaging	Het
Ttn	T	G	2: 76,653,282 (GRCm39)	E178D	possibly damaging	Het
Uggt2	A	G	14: 119,332,812 (GRCm39)		probably benign	Het
Vstm2a	T	C	11: 16,209,968 (GRCm39)	F65L	probably damaging	Het
Zfp57	A	G	17: 37,317,092 (GRCm39)		probably benign	Het
Znrf3	G	T	11: 5,231,320 (GRCm39)	P731Q	probably benign	Het

Other mutations in Ube2u

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Ube2u	APN	4	100,336,422 (GRCm39)	missense	possibly damaging	0.77
IGL01641:Ube2u	APN	4	100,338,854 (GRCm39)	missense	probably benign	0.02
IGL02633:Ube2u	APN	4	100,339,971 (GRCm39)	splice site	probably benign
IGL03126:Ube2u	APN	4	100,407,199 (GRCm39)	makesense	probably null
IGL03358:Ube2u	APN	4	100,404,472 (GRCm39)	splice site	probably benign
R0043:Ube2u	UTSW	4	100,340,026 (GRCm39)	missense	possibly damaging	0.93
R0102:Ube2u	UTSW	4	100,407,122 (GRCm39)	missense	possibly damaging	0.66
R0102:Ube2u	UTSW	4	100,407,122 (GRCm39)	missense	possibly damaging	0.66
R0110:Ube2u	UTSW	4	100,343,870 (GRCm39)	missense	probably benign	0.01
R0113:Ube2u	UTSW	4	100,338,852 (GRCm39)	missense	possibly damaging	0.93
R0357:Ube2u	UTSW	4	100,338,851 (GRCm39)	nonsense	probably null
R0395:Ube2u	UTSW	4	100,338,845 (GRCm39)	missense	probably benign	0.02
R0465:Ube2u	UTSW	4	100,389,293 (GRCm39)	splice site	probably benign
R0469:Ube2u	UTSW	4	100,343,870 (GRCm39)	missense	probably benign	0.01
R1958:Ube2u	UTSW	4	100,338,833 (GRCm39)	missense	probably benign
R2216:Ube2u	UTSW	4	100,389,365 (GRCm39)	missense	probably benign	0.00
R2937:Ube2u	UTSW	4	100,381,495 (GRCm39)	missense	possibly damaging	0.93
R4086:Ube2u	UTSW	4	100,407,039 (GRCm39)	missense	probably benign	0.18
R4471:Ube2u	UTSW	4	100,338,843 (GRCm39)	nonsense	probably null
R4781:Ube2u	UTSW	4	100,343,855 (GRCm39)	missense	probably benign	0.08
R6385:Ube2u	UTSW	4	100,389,341 (GRCm39)	missense	possibly damaging	0.91
R6912:Ube2u	UTSW	4	100,389,352 (GRCm39)	missense	probably damaging	0.99
R7382:Ube2u	UTSW	4	100,389,379 (GRCm39)	nonsense	probably null
R8793:Ube2u	UTSW	4	100,336,416 (GRCm39)	missense	probably damaging	0.99
R9349:Ube2u	UTSW	4	100,407,194 (GRCm39)	missense	unknown
R9469:Ube2u	UTSW	4	100,406,958 (GRCm39)	missense	possibly damaging	0.72
R9644:Ube2u	UTSW	4	100,406,943 (GRCm39)	small deletion	probably benign
Z1176:Ube2u	UTSW	4	100,340,037 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCTGAGACTTACCTGGCACCCTT -3'
(R):5'- TGACATAAAATGTggggctggagaga -3'

Sequencing Primer
(F):5'- ccctttgacctctgctttcc -3'
(R):5'- gggctggagagaaggttg -3'

Posted On

2013-10-16