Mutagenetix > Incidental Mutation

Incidental Mutation 'R6912:Ube2u'

539073

Institutional Source

Beutler Lab

Gene Symbol

Ube2u

Ensembl Gene

ENSMUSG00000069733

Gene Name

ubiquitin-conjugating enzyme E2U (putative)

Synonyms

MMRRC Submission

045004-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100336064-100407342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100389352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 105 (R105W)

Ref Sequence

ENSEMBL: ENSMUSP00000090406 (fasta)

Gene Model

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

AlphaFold

B1AUC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000092730
AA Change: R105W

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090406
Gene: ENSMUSG00000069733
AA Change: R105W

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 damaging
Transcript: ENSMUST00000133493
AA Change: R218W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: R218W

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	A	7: 43,150,571 (GRCm39)	T67I	possibly damaging	Het
Abca5	A	T	11: 110,197,106 (GRCm39)	M524K	probably benign	Het
Aco2	G	A	15: 81,779,597 (GRCm39)	V134I	probably benign	Het
Acsf2	C	T	11: 94,461,206 (GRCm39)	M323I	probably benign	Het
Acvr1	T	C	2: 58,337,585 (GRCm39)	D499G	probably benign	Het
Armc5	G	A	7: 127,839,597 (GRCm39)	C305Y	probably damaging	Het
Astl	T	C	2: 127,198,306 (GRCm39)	I286T	probably benign	Het
Atp8a2	G	A	14: 60,249,859 (GRCm39)	S544L	probably benign	Het
Bbs7	G	T	3: 36,659,853 (GRCm39)	A194E	probably benign	Het
Brca2	A	G	5: 150,465,207 (GRCm39)	D1657G	probably damaging	Het
Cfap46	G	A	7: 139,219,616 (GRCm39)	S1283L	probably benign	Het
Creld2	T	C	15: 88,704,200 (GRCm39)	S64P	probably damaging	Het
Crtc1	T	C	8: 70,850,961 (GRCm39)	E217G	probably damaging	Het
Cyp2d26	C	T	15: 82,675,320 (GRCm39)	V345M	probably benign	Het
Cyp2j11	T	C	4: 96,183,108 (GRCm39)	M487V	probably benign	Het
Dnah12	T	C	14: 26,600,036 (GRCm39)	I3692T	probably damaging	Het
Dnah14	A	T	1: 181,577,748 (GRCm39)	T3022S	possibly damaging	Het
Dtnb	A	T	12: 3,698,221 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,003 (GRCm39)	T443A	possibly damaging	Het
Ermp1	T	A	19: 29,594,011 (GRCm39)	I720F	probably benign	Het
Fam83b	T	A	9: 76,398,214 (GRCm39)	E963V	probably damaging	Het
Fat1	T	A	8: 45,504,060 (GRCm39)	S4463T	probably benign	Het
Fbxw27	T	A	9: 109,617,148 (GRCm39)	K118*	probably null	Het
Fcgbp	A	T	7: 27,789,129 (GRCm39)	Y565F	probably benign	Het
Garre1	A	G	7: 33,945,093 (GRCm39)	S384P	probably benign	Het
Gm128	A	T	3: 95,147,740 (GRCm39)	S185T	probably benign	Het
Gm6309	C	T	5: 146,105,640 (GRCm39)	E175K	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	T	C	14: 33,916,597 (GRCm39)	Y391C	probably damaging	Het
Hexa	T	C	9: 59,447,221 (GRCm39)	L72P	probably damaging	Het
Il31ra	T	A	13: 112,685,998 (GRCm39)	D124V	probably damaging	Het
Kdm2a	C	T	19: 4,372,529 (GRCm39)	A939T	probably benign	Het
Kif16b	A	G	2: 142,542,019 (GRCm39)		probably benign	Het
Kndc1	A	T	7: 139,490,194 (GRCm39)	D232V	probably damaging	Het
Lrrc37a	T	G	11: 103,348,369 (GRCm39)	R2775S	unknown	Het
Luc7l3	C	T	11: 94,200,462 (GRCm39)	R52H	probably damaging	Het
Mapk15	A	T	15: 75,865,747 (GRCm39)	R13S	probably damaging	Het
Mdga2	G	T	12: 66,552,889 (GRCm39)	Q187K	probably benign	Het
Mfsd2b	G	A	12: 4,920,611 (GRCm39)	Q69*	probably null	Het
Mlph	A	T	1: 90,873,342 (GRCm39)	D551V	probably damaging	Het
Mup5	A	T	4: 61,752,806 (GRCm39)	F72L	probably benign	Het
Narf	T	C	11: 121,129,287 (GRCm39)	S24P	probably benign	Het
Ncapg2	A	G	12: 116,390,202 (GRCm39)	I384V	probably benign	Het
Neo1	T	C	9: 58,824,335 (GRCm39)	T698A	probably benign	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Nrros	T	C	16: 31,981,057 (GRCm39)	R24G	probably null	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or6b1	T	C	6: 42,815,736 (GRCm39)	V307A	probably benign	Het
Pde9a	T	C	17: 31,685,386 (GRCm39)	S347P	possibly damaging	Het
Pitpnm3	T	C	11: 71,961,222 (GRCm39)	D315G	probably benign	Het
Plaat5	A	G	19: 7,616,830 (GRCm39)		probably benign	Het
Plekha6	C	T	1: 133,200,273 (GRCm39)	A284V	probably benign	Het
Plekhg2	A	G	7: 28,059,684 (GRCm39)	V1215A	probably benign	Het
Ppif	C	A	14: 25,698,711 (GRCm39)	A144E	probably damaging	Het
Ppp1r10	T	C	17: 36,240,453 (GRCm39)	V581A	possibly damaging	Het
Prr12	A	G	7: 44,698,269 (GRCm39)		probably benign	Het
Rfx6	T	C	10: 51,599,949 (GRCm39)	V565A	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Saxo2	A	G	7: 82,284,402 (GRCm39)	V152A	possibly damaging	Het
Sdk2	T	C	11: 113,793,946 (GRCm39)	D86G	probably benign	Het
Shroom3	A	T	5: 93,090,876 (GRCm39)	M1128L	probably benign	Het
Smok2a	C	A	17: 13,444,543 (GRCm39)	T40K	probably benign	Het
Tatdn1	C	T	15: 58,793,118 (GRCm39)		probably null	Het
Tbc1d2	C	A	4: 46,649,712 (GRCm39)	G108V	probably damaging	Het
Tbck	T	C	3: 132,392,703 (GRCm39)	I48T	possibly damaging	Het
Tm7sf3	A	G	6: 146,527,601 (GRCm39)	F75S	possibly damaging	Het
Tmx4	T	C	2: 134,440,719 (GRCm39)	D245G	probably benign	Het
Trim68	A	T	7: 102,333,675 (GRCm39)	D2E	probably damaging	Het
Trps1	T	A	15: 50,685,694 (GRCm39)	Q157L	possibly damaging	Het
Ttc22	A	G	4: 106,495,800 (GRCm39)	T385A	probably benign	Het
Ubap2l	A	T	3: 89,946,155 (GRCm39)	F150I	possibly damaging	Het
Ubr4	G	A	4: 139,185,545 (GRCm39)		probably null	Het
Unc5b	A	G	10: 60,666,871 (GRCm39)	L25P	probably benign	Het
Usp38	A	G	8: 81,719,958 (GRCm39)	S424P	probably damaging	Het
Vmn1r222	T	A	13: 23,416,374 (GRCm39)	S280C	probably benign	Het
Vmn1r59	A	T	7: 5,457,599 (GRCm39)	F54I	probably benign	Het
Vmn2r-ps117	T	A	17: 19,047,464 (GRCm39)	C536S	probably damaging	Het
Zkscan2	A	C	7: 123,099,196 (GRCm39)		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
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
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'- ATGACATTGCAAGCATAAAACTCCA -3'
(R):5'- GGTACCTTCTTATCATTGTTCTCATG -3'

Sequencing Primer
(F):5'- TGCAAAGTCCCTGAGCATTG -3'
(R):5'- TCTCATGCTTAAGAAAGGCATAGGC -3'

Posted On

2018-11-06