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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01324

Quality Score

Status

Chromosome

Chromosomal Location

100336064-100407342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100336422 bp (GRCm39)

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: 8,980,396 (GRCm39)	G560D	probably damaging	Het
Ap1g1	T	A	8: 110,559,414 (GRCm39)	D239E	possibly damaging	Het
Ap2a1	T	A	7: 44,555,120 (GRCm39)	T482S	probably damaging	Het
BC004004	T	C	17: 29,501,225 (GRCm39)	L58P	probably damaging	Het
Camsap1	C	A	2: 25,823,635 (GRCm39)	V1472L	possibly damaging	Het
Ces3b	A	T	8: 105,819,884 (GRCm39)	E569V	probably damaging	Het
Commd6	G	A	14: 101,877,738 (GRCm39)		probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Dync1h1	C	T	12: 110,593,299 (GRCm39)	R1189C	probably damaging	Het
Ern2	T	A	7: 121,782,413 (GRCm39)	I68F	possibly damaging	Het
Eya4	A	G	10: 22,992,449 (GRCm39)		probably null	Het
Gda	A	T	19: 21,387,250 (GRCm39)	I325K	probably damaging	Het
Gmnn	T	C	13: 24,936,105 (GRCm39)	T190A	probably benign	Het
Hdac4	G	A	1: 91,887,137 (GRCm39)	P801S	probably damaging	Het
Hnrnph3	A	T	10: 62,853,903 (GRCm39)	*72K	probably null	Het
Hoxd12	A	T	2: 74,505,480 (GRCm39)	N17I	probably damaging	Het
Incenp	G	A	19: 9,861,092 (GRCm39)	R497C	unknown	Het
Iqsec1	C	A	6: 90,666,685 (GRCm39)	R584L	probably damaging	Het
Kcnip1	A	G	11: 33,595,603 (GRCm39)	M1T	probably null	Het
Kcnu1	T	A	8: 26,339,735 (GRCm39)	S18T	probably benign	Het
Lepr	T	A	4: 101,625,265 (GRCm39)	D473E	probably benign	Het
Nfkbiz	T	C	16: 55,636,167 (GRCm39)	T564A	probably damaging	Het
Nsd3	C	T	8: 26,152,836 (GRCm39)	T392I	probably damaging	Het
Or10a5	T	C	7: 106,636,054 (GRCm39)	S231P	probably damaging	Het
Or10w1	T	C	19: 13,632,297 (GRCm39)	I163T	probably damaging	Het
P4ha2	A	G	11: 54,010,984 (GRCm39)	D333G	probably damaging	Het
Parg	T	C	14: 32,018,142 (GRCm39)		probably benign	Het
Psmc2	G	A	5: 22,005,007 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,338,063 (GRCm39)	Y3354C	probably damaging	Het
Siglec1	T	G	2: 130,927,461 (GRCm39)	D115A	probably damaging	Het
Slit3	G	T	11: 35,501,529 (GRCm39)	G421V	probably damaging	Het
Srgap3	T	A	6: 112,716,358 (GRCm39)	H590L	probably damaging	Het
Stk36	A	C	1: 74,664,769 (GRCm39)	T628P	possibly damaging	Het
Stx12	A	T	4: 132,590,576 (GRCm39)	M107K	probably benign	Het
Syne2	G	T	12: 76,090,526 (GRCm39)	V5105F	probably damaging	Het
Tecta	T	C	9: 42,256,727 (GRCm39)	S1650G	probably damaging	Het
Tlr1	T	C	5: 65,082,522 (GRCm39)	N685S	probably damaging	Het
Trio	A	G	15: 27,905,409 (GRCm39)	V60A	probably benign	Het
Ttyh3	G	A	5: 140,617,268 (GRCm39)	R334W	probably benign	Het
Ush2a	G	T	1: 188,581,189 (GRCm39)	V3690L	probably benign	Het
Xab2	A	G	8: 3,671,232 (GRCm39)	V16A	possibly damaging	Het

Other mutations in Ube2u

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0788:Ube2u	UTSW	4	100,371,937 (GRCm39)	splice site	probably benign
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

Posted On

2013-10-07