Mutagenetix > Incidental Mutation

Incidental Mutation 'R6385:Ube2u'

515547

Institutional Source

Beutler Lab

Gene Symbol

Ube2u

Ensembl Gene

ENSMUSG00000069733

Gene Name

ubiquitin-conjugating enzyme E2U (putative)

Synonyms

MMRRC Submission

044534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100336064-100407342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100389341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 214 (K214R)

Ref Sequence

ENSEMBL: ENSMUSP00000137472 (fasta)

Gene Model

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

AlphaFold

B1AUC4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092730
AA Change: K101R

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

SMART Domains

Protein: ENSMUSP00000090406
Gene: ENSMUSG00000069733
AA Change: K101R

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: K214R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: K214R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142634

Meta Mutation Damage Score

0.1450

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,236 (GRCm39)	M910L	probably benign	Het
Abca9	T	A	11: 110,025,080 (GRCm39)	I988F	probably damaging	Het
Adgra2	A	T	8: 27,608,878 (GRCm39)	S92C	probably damaging	Het
Apon	A	G	10: 128,090,223 (GRCm39)		probably benign	Het
Arap3	G	A	18: 38,130,084 (GRCm39)	R26*	probably null	Het
Btnl6	T	G	17: 34,727,343 (GRCm39)	I396L	probably benign	Het
Catsper3	G	T	13: 55,934,239 (GRCm39)	Q53H	probably damaging	Het
Cep164	T	G	9: 45,691,081 (GRCm39)	E372A	probably damaging	Het
Cln3	A	T	7: 126,174,207 (GRCm39)	C339S	probably null	Het
Cntnap2	G	A	6: 46,833,114 (GRCm39)	D776N	probably benign	Het
Cttnbp2nl	A	G	3: 104,912,952 (GRCm39)	F311L	probably benign	Het
Daam2	C	T	17: 49,770,964 (GRCm39)	A918T	probably damaging	Het
Dst	T	C	1: 34,346,549 (GRCm39)	V7353A	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fanca	A	T	8: 124,032,606 (GRCm39)		probably null	Het
Filip1	G	T	9: 79,727,813 (GRCm39)	Q269K	possibly damaging	Het
Fut9	G	A	4: 25,620,328 (GRCm39)	S162L	probably damaging	Het
Gtf2ird1	A	T	5: 134,433,544 (GRCm39)	H294Q	probably benign	Het
Gucy1a1	A	G	3: 82,016,313 (GRCm39)	I225T	probably benign	Het
H2-DMb1	T	A	17: 34,374,576 (GRCm39)	N75K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hes1	A	G	16: 29,884,424 (GRCm39)	M6V	possibly damaging	Het
Hydin	A	T	8: 111,038,856 (GRCm39)	H198L	possibly damaging	Het
Iars1	T	C	13: 49,855,371 (GRCm39)	L266P	probably damaging	Het
Ifna11	A	G	4: 88,738,386 (GRCm39)	E64G	probably damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Kcnh3	T	C	15: 99,125,822 (GRCm39)	S160P	probably benign	Het
Lama5	T	C	2: 179,838,326 (GRCm39)	T850A	probably damaging	Het
Lgi3	A	G	14: 70,768,610 (GRCm39)	T36A	possibly damaging	Het
Lrp2	T	C	2: 69,326,128 (GRCm39)	S1810G	probably benign	Het
Lypd10	A	T	7: 24,413,535 (GRCm39)	I184F	probably damaging	Het
Msln	T	A	17: 25,970,115 (GRCm39)	D280V	probably benign	Het
Myh4	A	T	11: 67,146,663 (GRCm39)	I1513F	probably damaging	Het
Ncf2	A	T	1: 152,706,173 (GRCm39)	M262L	probably benign	Het
Neb	G	T	2: 52,075,311 (GRCm39)	A218D	probably damaging	Het
Notch4	C	A	17: 34,792,788 (GRCm39)	Q640K	probably null	Het
Or4f7	T	C	2: 111,644,964 (GRCm39)	I36V	probably benign	Het
Or52e19b	A	T	7: 103,033,104 (GRCm39)	V35D	possibly damaging	Het
Or6k6	A	T	1: 173,944,862 (GRCm39)	F240Y	probably damaging	Het
Pear1	G	T	3: 87,661,506 (GRCm39)	H562N	probably benign	Het
Poli	C	A	18: 70,663,072 (GRCm39)		probably benign	Het
Ppp3r2	A	G	4: 49,681,767 (GRCm39)	I61T	possibly damaging	Het
Rfc5	T	C	5: 117,523,463 (GRCm39)	T112A	probably benign	Het
Serhl	A	G	15: 82,985,823 (GRCm39)	T5A	probably benign	Het
Shank3	T	C	15: 89,405,578 (GRCm39)		probably null	Het
Slc22a28	A	G	19: 8,078,844 (GRCm39)	S282P	probably damaging	Het
Slc2a12	C	T	10: 22,569,929 (GRCm39)	T540I	possibly damaging	Het
Slurp2	T	C	15: 74,618,524 (GRCm39)	M1V	probably null	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tln2	C	T	9: 67,185,411 (GRCm39)	A700T	probably benign	Het
Ttn	C	T	2: 76,748,192 (GRCm39)	V4286I	probably benign	Het
Vmn1r46	A	G	6: 89,953,427 (GRCm39)	H92R	probably damaging	Het
Wdr90	A	G	17: 26,067,504 (GRCm39)	I1486T	probably damaging	Het
Zc3h11a	A	T	1: 133,565,192 (GRCm39)	S236T	possibly damaging	Het
Zfp318	A	G	17: 46,721,932 (GRCm39)	K1312E	probably damaging	Het
Zfp930	A	G	8: 69,681,283 (GRCm39)	Y326C	probably damaging	Het
Zfp972	G	T	2: 177,563,588 (GRCm39)	D8E	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAGGATGTATGACATTGCAAG -3'
(R):5'- GTTCTCATGCTTAAGAAAGGCATAG -3'

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

Posted On

2018-05-04