Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:Ube2u'

329418

Institutional Source

Beutler Lab

Gene Symbol

Ube2u

Ensembl Gene

ENSMUSG00000069733

Gene Name

ubiquitin-conjugating enzyme E2U (putative)

Synonyms

MMRRC Submission

041728-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4471 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

100478849-100550147 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 100481646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 36 (W36*)

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 null
Transcript: ENSMUST00000133493
AA Change: W36*

SMART Domains

Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: W36*

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

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,536,571	L212P	probably damaging	Het
AF067061	G	T	13: 120,264,043	R81L	probably benign	Het
Alpk1	A	G	3: 127,679,526	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,503,509	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,476,214	K49M	probably damaging	Het
Asah1	A	G	8: 41,343,724		probably null	Het
Cdc34b	A	G	11: 94,742,238	E88G	probably benign	Het
Cdh2	T	C	18: 16,774,476		probably null	Het
Ceacam1	T	A	7: 25,474,600	N210I	possibly damaging	Het
Celf3	A	G	3: 94,488,278		probably null	Het
Cmya5	A	T	13: 93,092,325	M2085K	probably benign	Het
Cpne6	G	A	14: 55,516,632	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,133,069	V100A	probably benign	Het
Diexf	C	T	1: 193,130,137	R5Q	possibly damaging	Het
Dnajb4	A	T	3: 152,185,162	H333Q	probably benign	Het
Eif3f	T	C	7: 108,940,946	V316A	possibly damaging	Het
Eml1	T	C	12: 108,506,635		probably benign	Het
Ern1	C	A	11: 106,420,042	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092	H170L	probably benign	Het
Fn3krp	T	G	11: 121,426,673	D146E	probably benign	Het
Git1	A	G	11: 77,499,824	T129A	probably benign	Het
Glrp1	T	A	1: 88,503,474	Q58L	unknown	Het
Gpatch2	A	G	1: 187,233,140	E281G	probably damaging	Het
Hipk2	T	A	6: 38,736,922		probably benign	Het
Hydin	A	G	8: 110,587,132	N4214S	probably damaging	Het
Icam5	T	A	9: 21,035,506	C443*	probably null	Het
Impdh1	G	A	6: 29,204,632	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,361,239	T447M	probably benign	Het
Lman1	A	T	18: 65,991,726		probably benign	Het
Mdn1	A	G	4: 32,668,860	E306G	probably benign	Het
Msc	G	C	1: 14,755,678	P24R	probably damaging	Het
Mtif2	T	C	11: 29,540,053		probably benign	Het
Mvp	C	T	7: 127,001,958	M1I	probably null	Het
Myh7	A	T	14: 54,991,854	Y162*	probably null	Het
Nemf	G	A	12: 69,314,442	H956Y	probably benign	Het
Nktr	T	C	9: 121,748,896		probably benign	Het
Nrxn3	T	C	12: 90,204,741	S276P	probably damaging	Het
Olfr26	T	C	9: 38,855,631	S190P	probably damaging	Het
Patj	A	G	4: 98,535,579	K621E	probably damaging	Het
Prss2	A	G	6: 41,522,846	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,582,820		probably benign	Het
Rest	T	C	5: 77,281,180	V482A	probably benign	Het
Rexo1	A	T	10: 80,542,658	S476T	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Slc16a3	T	C	11: 120,955,948		probably benign	Het
Slc5a4b	G	A	10: 76,058,891	Q594*	probably null	Het
Slk	T	G	19: 47,615,423	V202G	probably damaging	Het
Smarca2	T	A	19: 26,619,877	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,238,753	V2036E	probably benign	Het
Sox5	A	G	6: 143,844,765	M523T	possibly damaging	Het
Syt17	A	G	7: 118,436,817		probably null	Het
Taf2	T	C	15: 55,058,880	D337G	possibly damaging	Het
Tecrl	A	G	5: 83,313,287	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018	F409L	probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Ttc23	G	A	7: 67,670,156	R187Q	probably benign	Het
Ttl	T	C	2: 129,082,057	V230A	probably benign	Het
Ube4a	A	T	9: 44,946,532		probably benign	Het
Ulk1	C	T	5: 110,789,357	R691Q	probably benign	Het
Unc45a	A	G	7: 80,332,980	I399T	possibly damaging	Het
Wdr59	A	C	8: 111,466,787		probably null	Het
Zfp24	A	G	18: 24,018,115		probably benign	Het
Zfp777	A	T	6: 48,042,107	W342R	probably damaging	Het
Zfp979	A	T	4: 147,613,456	C265*	probably null	Het
Zzef1	T	A	11: 72,913,331	L2633Q	probably damaging	Het

Other mutations in Ube2u

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Ube2u	APN	4	100479225	missense	possibly damaging	0.77
IGL01641:Ube2u	APN	4	100481657	missense	probably benign	0.02
IGL02633:Ube2u	APN	4	100482774	splice site	probably benign
IGL03126:Ube2u	APN	4	100550002	makesense	probably null
IGL03358:Ube2u	APN	4	100547275	splice site	probably benign
R0043:Ube2u	UTSW	4	100482829	missense	possibly damaging	0.93
R0102:Ube2u	UTSW	4	100549925	missense	possibly damaging	0.66
R0102:Ube2u	UTSW	4	100549925	missense	possibly damaging	0.66
R0110:Ube2u	UTSW	4	100486673	missense	probably benign	0.01
R0113:Ube2u	UTSW	4	100481655	missense	possibly damaging	0.93
R0357:Ube2u	UTSW	4	100481654	nonsense	probably null
R0395:Ube2u	UTSW	4	100481648	missense	probably benign	0.02
R0465:Ube2u	UTSW	4	100532096	splice site	probably benign
R0469:Ube2u	UTSW	4	100486673	missense	probably benign	0.01
R0788:Ube2u	UTSW	4	100514740	splice site	probably benign
R1958:Ube2u	UTSW	4	100481636	missense	probably benign
R2216:Ube2u	UTSW	4	100532168	missense	probably benign	0.00
R2937:Ube2u	UTSW	4	100524298	missense	possibly damaging	0.93
R4086:Ube2u	UTSW	4	100549842	missense	probably benign	0.18
R4781:Ube2u	UTSW	4	100486658	missense	probably benign	0.08
R6385:Ube2u	UTSW	4	100532144	missense	possibly damaging	0.91
R6912:Ube2u	UTSW	4	100532155	missense	probably damaging	0.99
R7382:Ube2u	UTSW	4	100532182	nonsense	probably null
R8793:Ube2u	UTSW	4	100479219	missense	probably damaging	0.99
R9349:Ube2u	UTSW	4	100549997	missense	unknown
R9469:Ube2u	UTSW	4	100549761	missense	possibly damaging	0.72
Z1176:Ube2u	UTSW	4	100482840	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATATACCCAGAAAGGTAAACACCTGG -3'
(R):5'- TGAGGCCCTGGATTCAATTC -3'

Sequencing Primer
(F):5'- TGAAATTCAATGTAACCCAGTATCTG -3'
(R):5'- GAGGCCCTGGATTCAATTCTTATTC -3'

Posted On

2015-07-21