Mutagenetix > Incidental Mutation

Incidental Mutation 'R0102:Ube2u'

17895

Institutional Source

Beutler Lab

Gene Symbol

Ube2u

Ensembl Gene

ENSMUSG00000069733

Gene Name

ubiquitin-conjugating enzyme E2U (putative)

Synonyms

MMRRC Submission

038388-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0102 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100336064-100407342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100407122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 215 (T215A)

Ref Sequence

ENSEMBL: ENSMUSP00000090406 (fasta)

Gene Model

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

AlphaFold

B1AUC4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092730
AA Change: T215A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090406
Gene: ENSMUSG00000069733
AA Change: T215A

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: T328A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: T328A

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

0.1302

Coding Region Coverage

1x: 88.8%
3x: 85.2%
10x: 73.9%
20x: 53.9%

Validation Efficiency

97% (84/87)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,874 (GRCm39)	K1021R	probably damaging	Het
2610528J11Rik	G	A	4: 118,386,762 (GRCm39)	V36M	probably damaging	Het
4930402F06Rik	T	A	2: 35,265,795 (GRCm39)	R292*	probably null	Het
Abcb4	T	C	5: 8,959,194 (GRCm39)	F207S	probably damaging	Het
Adcy4	A	C	14: 56,008,990 (GRCm39)	N812K	probably benign	Het
Afap1l2	G	T	19: 56,916,872 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,687,385 (GRCm39)	H203L	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Bod1l	G	A	5: 41,974,612 (GRCm39)	P2234L	probably benign	Het
Cfi	A	C	3: 129,642,416 (GRCm39)	H90P	probably damaging	Het
Cyp2d10	C	T	15: 82,288,794 (GRCm39)	M229I	probably benign	Het
Dnah5	A	G	15: 28,245,897 (GRCm39)		probably benign	Het
Dnttip2	G	T	3: 122,069,452 (GRCm39)	M222I	probably benign	Het
Dync1li2	A	T	8: 105,154,757 (GRCm39)	Y284N	probably benign	Het
Ebf1	T	C	11: 44,882,282 (GRCm39)	Y413H	probably benign	Het
Exog	A	G	9: 119,281,319 (GRCm39)	T186A	possibly damaging	Het
Fam171a2	T	C	11: 102,334,939 (GRCm39)	N66S	possibly damaging	Het
Gprc5a	A	T	6: 135,056,033 (GRCm39)	N160I	probably damaging	Het
Haus3	A	G	5: 34,323,258 (GRCm39)		probably null	Het
Klhl20	A	T	1: 160,918,015 (GRCm39)	C90*	probably null	Het
Krt84	T	A	15: 101,437,138 (GRCm39)	I342L	probably damaging	Het
Lifr	G	A	15: 7,208,373 (GRCm39)	D584N	probably damaging	Het
Lmbrd2	G	A	15: 9,184,039 (GRCm39)	R551K	probably damaging	Het
Lrtm1	T	A	14: 28,744,184 (GRCm39)		probably benign	Het
Mat1a	T	A	14: 40,842,187 (GRCm39)		probably benign	Het
Mest	A	G	6: 30,746,269 (GRCm39)	I279V	probably damaging	Het
Mroh5	A	T	15: 73,691,199 (GRCm39)	D155E	probably benign	Het
Naa25	A	G	5: 121,573,632 (GRCm39)	D787G	possibly damaging	Het
Naaladl1	C	T	19: 6,162,534 (GRCm39)	P465S	probably damaging	Het
Necab3	G	A	2: 154,387,232 (GRCm39)	R302C	probably damaging	Het
Nsg1	A	T	5: 38,316,254 (GRCm39)	D32E	probably damaging	Het
Ntrk2	T	C	13: 58,956,607 (GRCm39)	V22A	probably benign	Het
Nuggc	A	G	14: 65,851,000 (GRCm39)	D290G	probably null	Het
Nup205	A	T	6: 35,202,715 (GRCm39)		probably benign	Het
Or2t35	C	T	14: 14,407,876 (GRCm38)	S218F	probably damaging	Het
Or4f57	G	C	2: 111,790,942 (GRCm39)	Q159E	probably damaging	Het
Pde4b	T	A	4: 102,447,375 (GRCm39)	S9T	probably benign	Het
Phip	A	T	9: 82,787,845 (GRCm39)		probably null	Het
Pitpnm3	C	T	11: 71,947,072 (GRCm39)	V776M	probably damaging	Het
Pon2	A	G	6: 5,289,091 (GRCm39)		probably benign	Het
Ppp1r12b	T	A	1: 134,763,637 (GRCm39)		probably null	Het
Ppp1r15b	A	G	1: 133,060,908 (GRCm39)	N475S	probably damaging	Het
Prorp	A	G	12: 55,429,082 (GRCm39)	D535G	probably benign	Het
Prrt3	A	T	6: 113,474,790 (GRCm39)	L144H	probably damaging	Het
Psmb7	A	G	2: 38,533,377 (GRCm39)	V50A	possibly damaging	Het
Sacs	T	A	14: 61,442,017 (GRCm39)	S1354R	probably damaging	Het
Sdcbp2	A	G	2: 151,425,884 (GRCm39)	T29A	probably benign	Het
Shbg	T	A	11: 69,508,415 (GRCm39)		probably benign	Het
Shcbp1	A	G	8: 4,794,452 (GRCm39)	I447T	probably damaging	Het
Spata31h1	T	A	10: 82,119,390 (GRCm39)	K4540M	probably damaging	Het
Spata31h2	T	A	5: 23,542,489 (GRCm39)		noncoding transcript	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trappc12	A	T	12: 28,796,751 (GRCm39)	F260L	probably damaging	Het
Trgv4	T	G	13: 19,369,370 (GRCm39)	F38C	possibly damaging	Het
Trim10	C	A	17: 37,181,074 (GRCm39)	H102N	probably damaging	Het
Vcan	T	G	13: 89,851,787 (GRCm39)	T1058P	probably benign	Het
Vwa3b	A	C	1: 37,174,595 (GRCm39)	E670A	probably damaging	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
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

2013-03-25