Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01324:Ube2u'

74161

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2u

Ensembl Gene

ENSMUSG00000069733

Gene Name

ubiquitin-conjugating enzyme E2U (putative)

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01324

Quality Score

Status

Chromosome

Chromosomal Location

100478849-100550147 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100479225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 15 (E15G)

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

possibly damaging
Transcript: ENSMUST00000133493
AA Change: E15G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: E15G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 9,003,032	G560D	probably damaging	Het
Ap1g1	T	A	8: 109,832,782	D239E	possibly damaging	Het
Ap2a1	T	A	7: 44,905,696	T482S	probably damaging	Het
BC004004	T	C	17: 29,282,251	L58P	probably damaging	Het
Camsap1	C	A	2: 25,933,623	V1472L	possibly damaging	Het
Ces3b	A	T	8: 105,093,252	E569V	probably damaging	Het
Commd6	G	A	14: 101,640,302		probably benign	Het
Ddx54	A	G	5: 120,623,638	D493G	probably benign	Het
Dync1h1	C	T	12: 110,626,865	R1189C	probably damaging	Het
Ern2	T	A	7: 122,183,190	I68F	possibly damaging	Het
Eya4	A	G	10: 23,116,551		probably null	Het
Gda	A	T	19: 21,409,886	I325K	probably damaging	Het
Gmnn	T	C	13: 24,752,122	T190A	probably benign	Het
Hdac4	G	A	1: 91,959,415	P801S	probably damaging	Het
Hnrnph3	A	T	10: 63,018,124	*72K	probably null	Het
Hoxd12	A	T	2: 74,675,136	N17I	probably damaging	Het
Incenp	G	A	19: 9,883,728	R497C	unknown	Het
Iqsec1	C	A	6: 90,689,703	R584L	probably damaging	Het
Kcnip1	A	G	11: 33,645,603	M1T	probably null	Het
Kcnu1	T	A	8: 25,849,707	S18T	probably benign	Het
Lepr	T	A	4: 101,768,068	D473E	probably benign	Het
Nfkbiz	T	C	16: 55,815,804	T564A	probably damaging	Het
Nsd3	C	T	8: 25,662,820	T392I	probably damaging	Het
Olfr1490	T	C	19: 13,654,933	I163T	probably damaging	Het
Olfr713	T	C	7: 107,036,847	S231P	probably damaging	Het
P4ha2	A	G	11: 54,120,158	D333G	probably damaging	Het
Parg	T	C	14: 32,296,185		probably benign	Het
Psmc2	G	A	5: 21,800,009		probably null	Het
Rnf213	A	G	11: 119,447,237	Y3354C	probably damaging	Het
Siglec1	T	G	2: 131,085,541	D115A	probably damaging	Het
Slit3	G	T	11: 35,610,702	G421V	probably damaging	Het
Srgap3	T	A	6: 112,739,397	H590L	probably damaging	Het
Stk36	A	C	1: 74,625,610	T628P	possibly damaging	Het
Stx12	A	T	4: 132,863,265	M107K	probably benign	Het
Syne2	G	T	12: 76,043,752	V5105F	probably damaging	Het
Tecta	T	C	9: 42,345,431	S1650G	probably damaging	Het
Tlr1	T	C	5: 64,925,179	N685S	probably damaging	Het
Trio	A	G	15: 27,905,323	V60A	probably benign	Het
Ttyh3	G	A	5: 140,631,513	R334W	probably benign	Het
Ush2a	G	T	1: 188,848,992	V3690L	probably benign	Het
Xab2	A	G	8: 3,621,232	V16A	possibly damaging	Het

Other mutations in Ube2u

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4471:Ube2u	UTSW	4	100481646	nonsense	probably null
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

Posted On

2013-10-07