Mutagenetix > Incidental Mutation

Incidental Mutation 'R5057:Ube3b'

390912

Institutional Source

Beutler Lab

Gene Symbol

Ube3b

Ensembl Gene

ENSMUSG00000029577

Gene Name

ubiquitin protein ligase E3B

Synonyms

MMRRC Submission

042647-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5057 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114380607-114421169 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114406257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 572 (F572L)

Ref Sequence

ENSEMBL: ENSMUSP00000073652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074002] [ENSMUST00000130169]

AlphaFold

Q9ES34

Predicted Effect

probably benign
Transcript: ENSMUST00000074002
AA Change: F572L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: F572L

Domain	Start	End	E-Value	Type
IQ	28	50	1.17e-2	SMART
low complexity region	310	327	N/A	INTRINSIC
low complexity region	412	428	N/A	INTRINSIC
low complexity region	470	488	N/A	INTRINSIC
HECTc	697	1070	2.15e-110	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130169

SMART Domains

Protein: ENSMUSP00000138723
Gene: ENSMUSG00000029577

Domain	Start	End	E-Value	Type
IQ	28	50	1.17e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183408

Predicted Effect

probably benign
Transcript: ENSMUST00000196651

SMART Domains

Protein: ENSMUSP00000143455
Gene: ENSMUSG00000029577

Domain	Start	End	E-Value	Type
HECTc	122	495	1.1e-112	SMART

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

97% (118/122)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,225,421 (GRCm38)	F207I	probably benign	Het
4933427D14Rik	A	T	11: 72,166,755 (GRCm38)	H739Q	probably benign	Het
Acad12	T	A	5: 121,610,089 (GRCm38)	T89S	probably benign	Het
Adgb	A	G	10: 10,357,978 (GRCm38)	C1252R	probably benign	Het
Ankef1	A	G	2: 136,550,360 (GRCm38)		probably null	Het
Ankfy1	T	C	11: 72,759,919 (GRCm38)	L976P	probably damaging	Het
Ankib1	T	A	5: 3,734,011 (GRCm38)	I322F	possibly damaging	Het
Ankrd61	T	A	5: 143,894,795 (GRCm38)	T64S	probably benign	Het
Anxa6	T	G	11: 55,001,236 (GRCm38)	E298A	possibly damaging	Het
Apc2	A	G	10: 80,309,069 (GRCm38)	S605G	probably damaging	Het
Arih1	T	C	9: 59,486,232 (GRCm38)	N39S	unknown	Het
Bicc1	A	G	10: 70,947,883 (GRCm38)	S393P	possibly damaging	Het
Bptf	A	T	11: 107,082,528 (GRCm38)	F693L	probably damaging	Het
Cacng4	A	G	11: 107,794,371 (GRCm38)	Y32H	probably damaging	Het
Ccdc50	T	A	16: 27,438,342 (GRCm38)	D252E	probably benign	Het
Ccdc92b	C	A	11: 74,638,150 (GRCm38)	T160K	probably damaging	Het
Cd163	C	T	6: 124,325,288 (GRCm38)	T937I	probably damaging	Het
Cdh22	C	A	2: 165,116,143 (GRCm38)	V635F	probably damaging	Het
Cenpe	G	T	3: 135,220,313 (GRCm38)	A243S	probably benign	Het
Cep295	A	T	9: 15,322,683 (GRCm38)	H2272Q	probably benign	Het
Cgnl1	A	T	9: 71,724,794 (GRCm38)	V425D	probably damaging	Het
Clec4b2	A	T	6: 123,200,956 (GRCm38)	S77C	probably null	Het
Cntnap5a	C	T	1: 115,685,213 (GRCm38)	T26I	probably benign	Het
Col6a3	T	C	1: 90,816,130 (GRCm38)	K165R	possibly damaging	Het
Copb1	A	T	7: 114,226,762 (GRCm38)	N662K	probably benign	Het
Crybg1	T	A	10: 43,989,108 (GRCm38)	R1458*	probably null	Het
Cspp1	T	A	1: 10,074,961 (GRCm38)		probably benign	Het
Dhtkd1	A	G	2: 5,919,513 (GRCm38)	C430R	probably damaging	Het
Dlg5	T	C	14: 24,136,622 (GRCm38)	E1847G	probably damaging	Het
Ephb3	A	G	16: 21,220,447 (GRCm38)	D351G	probably damaging	Het
Exd2	T	A	12: 80,496,790 (GRCm38)	N582K	probably damaging	Het
Fam161a	T	A	11: 23,020,397 (GRCm38)	C192S	probably damaging	Het
Fbn1	A	G	2: 125,466,695 (GRCm38)	V149A	probably benign	Het
Fbxw16	A	G	9: 109,441,164 (GRCm38)	S170P	probably damaging	Het
Fndc1	T	A	17: 7,771,970 (GRCm38)	R965*	probably null	Het
Frem2	T	C	3: 53,535,196 (GRCm38)	D2640G	probably benign	Het
Gfm1	T	C	3: 67,473,544 (GRCm38)	V664A	probably damaging	Het
Gm10803	A	C	2: 93,564,172 (GRCm38)	L96F	probably damaging	Het
Gm14569	T	C	X: 36,430,817 (GRCm38)	D1413G	probably benign	Het
Gm44501	A	G	17: 40,578,672 (GRCm38)	T26A	probably benign	Het
Gm4907	G	A	X: 23,907,241 (GRCm38)	G327E	probably damaging	Het
Gm5045	A	T	15: 59,211,155 (GRCm38)		noncoding transcript	Het
Gm6803	A	T	12: 88,018,711 (GRCm38)	S21T	unknown	Het
Gpc4	G	A	X: 52,074,563 (GRCm38)	R148C	probably damaging	Het
Gpsm1	G	A	2: 26,325,357 (GRCm38)	R277Q	probably damaging	Het
Inmt	T	A	6: 55,174,898 (GRCm38)	H29L	probably benign	Het
Insrr	T	A	3: 87,815,265 (GRCm38)	C1265S	probably benign	Het
Kctd12	A	G	14: 102,981,609 (GRCm38)	F278L	possibly damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lag3	T	A	6: 124,905,355 (GRCm38)	I393F	possibly damaging	Het
Lama2	C	T	10: 27,164,986 (GRCm38)	C1447Y	probably damaging	Het
Lama3	G	A	18: 12,531,948 (GRCm38)	G2275S	probably null	Het
Lrrc17	A	T	5: 21,575,309 (GRCm38)	H427L	probably benign	Het
Med13l	T	A	5: 118,718,493 (GRCm38)	S164T	probably damaging	Het
Milr1	A	G	11: 106,766,965 (GRCm38)	D131G	possibly damaging	Het
Myo5c	A	T	9: 75,300,873 (GRCm38)	T1630S	probably damaging	Het
Nbeal2	A	T	9: 110,631,005 (GRCm38)	N1848K	probably damaging	Het
Ncor2	A	T	5: 125,048,066 (GRCm38)	V307E	possibly damaging	Het
Ndufs3	C	A	2: 90,898,660 (GRCm38)	A161S	probably benign	Het
Neo1	T	C	9: 58,990,271 (GRCm38)	D134G	probably damaging	Het
Nexmif	A	T	X: 104,087,350 (GRCm38)	N320K	probably damaging	Het
Nipal3	T	A	4: 135,466,856 (GRCm38)	I289F	probably damaging	Het
Nrg4	A	G	9: 55,282,596 (GRCm38)		probably benign	Het
Nrxn3	A	T	12: 89,255,034 (GRCm38)	I528F	probably damaging	Het
Olfr139	T	A	11: 74,045,055 (GRCm38)	D73V	probably damaging	Het
Olfr748	A	C	14: 50,711,212 (GRCm38)	N294T	probably damaging	Het
Pate2	T	C	9: 35,686,111 (GRCm38)		probably benign	Het
Pcnx2	T	C	8: 125,855,191 (GRCm38)	I935M	possibly damaging	Het
Pik3c2a	G	T	7: 116,376,283 (GRCm38)	T683K	possibly damaging	Het
Pip5k1c	G	A	10: 81,310,889 (GRCm38)		probably null	Het
Pkd1l2	G	A	8: 117,055,008 (GRCm38)	T766I	probably benign	Het
Polr3c	C	A	3: 96,712,057 (GRCm38)	L508F	probably damaging	Het
Por	A	G	5: 135,730,902 (GRCm38)	D189G	probably damaging	Het
Prim2	A	T	1: 33,630,360 (GRCm38)	L178*	probably null	Het
Prima1	C	A	12: 103,202,605 (GRCm38)		probably null	Het
Ptpn21	G	A	12: 98,679,407 (GRCm38)	R1091C	probably damaging	Het
Ptpn23	G	A	9: 110,388,556 (GRCm38)	T744I	probably benign	Het
Rad21	A	T	15: 51,966,706 (GRCm38)	I503K	probably benign	Het
Rbm12	A	T	2: 156,096,886 (GRCm38)	C489S	probably benign	Het
Rpl10a	A	T	17: 28,330,633 (GRCm38)	H140L	probably benign	Het
Rtbdn	T	C	8: 84,955,009 (GRCm38)	F143S	probably damaging	Het
Scamp3	T	A	3: 89,182,293 (GRCm38)		probably benign	Het
Setd5	A	G	6: 113,137,961 (GRCm38)	S848G	probably damaging	Het
Sez6	T	C	11: 77,973,153 (GRCm38)	V487A	probably damaging	Het
Shc2	G	A	10: 79,623,872 (GRCm38)	P413S	probably benign	Het
Sipa1l3	T	C	7: 29,371,193 (GRCm38)	N966S	probably damaging	Het
Slc39a8	A	G	3: 135,849,029 (GRCm38)	E78G	probably benign	Het
Slc8a3	A	G	12: 81,199,558 (GRCm38)	V900A	probably damaging	Het
Slitrk3	T	C	3: 73,050,648 (GRCm38)	T264A	probably benign	Het
Spire2	G	A	8: 123,358,201 (GRCm38)	R260H	probably damaging	Het
Stk39	T	A	2: 68,220,948 (GRCm38)	I518F	probably damaging	Het
Tardbp	T	A	4: 148,619,356 (GRCm38)		probably null	Het
Tep1	A	G	14: 50,828,999 (GRCm38)	Y2335H	probably benign	Het
Tll2	A	G	19: 41,117,266 (GRCm38)	V358A	probably benign	Het
Tmem268	C	G	4: 63,568,540 (GRCm38)	S100C	probably damaging	Het
Tnfsf9	A	G	17: 57,105,444 (GRCm38)	T5A	probably benign	Het
Trappc10	G	T	10: 78,217,160 (GRCm38)	F260L	possibly damaging	Het
Trim5	A	G	7: 104,265,423 (GRCm38)	Y480H	probably damaging	Het
Trmt112	T	C	19: 6,910,753 (GRCm38)	V91A	probably benign	Het
Ttn	C	A	2: 76,918,644 (GRCm38)	L4020F	probably benign	Het
Ttn	T	A	2: 76,747,035 (GRCm38)	K22759*	probably null	Het
Ubash3b	A	G	9: 41,037,459 (GRCm38)	C187R	possibly damaging	Het
Ubr5	A	G	15: 38,004,109 (GRCm38)	V1332A	probably damaging	Het
Ubtd2	C	A	11: 32,516,320 (GRCm38)	R180S	probably damaging	Het
Ubtf	A	G	11: 102,307,087 (GRCm38)	S673P	probably damaging	Het
Ubtfl1	A	T	9: 18,409,191 (GRCm38)	D5V	possibly damaging	Het
Usp17la	G	A	7: 104,861,123 (GRCm38)	V312I	possibly damaging	Het
Usp17ld	G	T	7: 103,250,448 (GRCm38)	H426N	probably benign	Het
Usp34	A	G	11: 23,458,086 (GRCm38)		probably benign	Het
Vmn1r199	A	T	13: 22,383,405 (GRCm38)	T290S	possibly damaging	Het
Vmn1r33	T	C	6: 66,612,105 (GRCm38)	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,486,464 (GRCm38)	I459L	probably benign	Het
Vmn2r6	T	A	3: 64,537,786 (GRCm38)	K839N	probably damaging	Het
Vmn2r65	A	G	7: 84,940,611 (GRCm38)	I699T	probably damaging	Het
Vps16	A	G	2: 130,439,452 (GRCm38)	S235G	probably benign	Het
Vwde	T	C	6: 13,192,642 (GRCm38)	I421V	possibly damaging	Het
Wdr60	A	T	12: 116,213,413 (GRCm38)	N856K	probably benign	Het
Xiap	T	C	X: 42,094,465 (GRCm38)	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380 (GRCm38)	T385A	probably benign	Het
Znfx1	T	C	2: 167,039,826 (GRCm38)	Y217C	probably damaging	Het

Other mutations in Ube3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ube3b	APN	5	114,415,287 (GRCm38)	missense	possibly damaging	0.93
IGL01154:Ube3b	APN	5	114,406,252 (GRCm38)	missense	probably null	0.86
IGL02632:Ube3b	APN	5	114,398,841 (GRCm38)	missense	probably benign
IGL02850:Ube3b	APN	5	114,406,249 (GRCm38)	missense	probably damaging	1.00
IGL02878:Ube3b	APN	5	114,404,717 (GRCm38)	splice site	probably null
IGL02881:Ube3b	APN	5	114,412,884 (GRCm38)	missense	possibly damaging	0.78
R0003:Ube3b	UTSW	5	114,398,851 (GRCm38)	missense	probably benign	0.17
R0071:Ube3b	UTSW	5	114,419,497 (GRCm38)	missense	probably damaging	1.00
R0071:Ube3b	UTSW	5	114,419,497 (GRCm38)	missense	probably damaging	1.00
R0076:Ube3b	UTSW	5	114,408,217 (GRCm38)	critical splice donor site	probably null
R0076:Ube3b	UTSW	5	114,408,217 (GRCm38)	critical splice donor site	probably null
R0111:Ube3b	UTSW	5	114,390,376 (GRCm38)	splice site	probably benign
R0309:Ube3b	UTSW	5	114,419,469 (GRCm38)	splice site	probably benign
R0718:Ube3b	UTSW	5	114,402,555 (GRCm38)	nonsense	probably null
R1344:Ube3b	UTSW	5	114,418,575 (GRCm38)	missense	probably damaging	1.00
R1350:Ube3b	UTSW	5	114,406,137 (GRCm38)	splice site	probably null
R1418:Ube3b	UTSW	5	114,418,575 (GRCm38)	missense	probably damaging	1.00
R1732:Ube3b	UTSW	5	114,387,445 (GRCm38)	missense	probably benign	0.01
R1764:Ube3b	UTSW	5	114,404,617 (GRCm38)	missense	possibly damaging	0.89
R1975:Ube3b	UTSW	5	114,399,865 (GRCm38)	missense	possibly damaging	0.80
R2014:Ube3b	UTSW	5	114,411,149 (GRCm38)	missense	probably damaging	1.00
R2015:Ube3b	UTSW	5	114,411,149 (GRCm38)	missense	probably damaging	1.00
R2041:Ube3b	UTSW	5	114,387,233 (GRCm38)	missense	probably damaging	0.99
R2074:Ube3b	UTSW	5	114,415,255 (GRCm38)	missense	probably benign	0.14
R2202:Ube3b	UTSW	5	114,389,074 (GRCm38)	missense	probably damaging	1.00
R2205:Ube3b	UTSW	5	114,389,074 (GRCm38)	missense	probably damaging	1.00
R3826:Ube3b	UTSW	5	114,399,951 (GRCm38)	missense	probably damaging	0.99
R3829:Ube3b	UTSW	5	114,399,951 (GRCm38)	missense	probably damaging	0.99
R3830:Ube3b	UTSW	5	114,399,951 (GRCm38)	missense	probably damaging	0.99
R3927:Ube3b	UTSW	5	114,415,680 (GRCm38)	missense	probably benign	0.03
R3974:Ube3b	UTSW	5	114,412,430 (GRCm38)	missense	probably benign	0.05
R4049:Ube3b	UTSW	5	114,412,870 (GRCm38)	missense	probably benign	0.09
R4096:Ube3b	UTSW	5	114,393,086 (GRCm38)	missense	possibly damaging	0.65
R4261:Ube3b	UTSW	5	114,398,428 (GRCm38)	missense	possibly damaging	0.80
R4415:Ube3b	UTSW	5	114,412,444 (GRCm38)	missense	probably damaging	1.00
R4688:Ube3b	UTSW	5	114,393,078 (GRCm38)	missense	probably benign	0.03
R4779:Ube3b	UTSW	5	114,404,717 (GRCm38)	splice site	probably null
R4824:Ube3b	UTSW	5	114,415,726 (GRCm38)	splice site	probably null
R4868:Ube3b	UTSW	5	114,398,427 (GRCm38)	missense	probably benign	0.00
R4953:Ube3b	UTSW	5	114,401,410 (GRCm38)	missense	probably benign	0.01
R5013:Ube3b	UTSW	5	114,407,641 (GRCm38)	missense	probably damaging	1.00
R5117:Ube3b	UTSW	5	114,419,631 (GRCm38)	missense	probably damaging	0.96
R5131:Ube3b	UTSW	5	114,407,546 (GRCm38)	missense	probably damaging	1.00
R5498:Ube3b	UTSW	5	114,418,574 (GRCm38)	missense	probably damaging	1.00
R5564:Ube3b	UTSW	5	114,389,075 (GRCm38)	missense	probably damaging	1.00
R5572:Ube3b	UTSW	5	114,406,179 (GRCm38)	missense	probably damaging	0.99
R5580:Ube3b	UTSW	5	114,415,323 (GRCm38)	missense	probably benign
R5596:Ube3b	UTSW	5	114,406,160 (GRCm38)	splice site	probably null
R5843:Ube3b	UTSW	5	114,412,299 (GRCm38)	missense	probably damaging	1.00
R5910:Ube3b	UTSW	5	114,415,309 (GRCm38)	missense	possibly damaging	0.63
R6591:Ube3b	UTSW	5	114,408,124 (GRCm38)	missense	probably benign	0.00
R6691:Ube3b	UTSW	5	114,408,124 (GRCm38)	missense	probably benign	0.00
R7148:Ube3b	UTSW	5	114,406,252 (GRCm38)	missense	probably damaging	0.97
R7334:Ube3b	UTSW	5	114,415,681 (GRCm38)	missense	possibly damaging	0.64
R7438:Ube3b	UTSW	5	114,418,626 (GRCm38)	missense	probably damaging	1.00
R7438:Ube3b	UTSW	5	114,415,284 (GRCm38)	missense	possibly damaging	0.79
R7640:Ube3b	UTSW	5	114,415,323 (GRCm38)	missense	probably benign
R7825:Ube3b	UTSW	5	114,401,312 (GRCm38)	missense	probably damaging	1.00
R7958:Ube3b	UTSW	5	114,401,423 (GRCm38)	missense	probably benign	0.05
R8025:Ube3b	UTSW	5	114,408,209 (GRCm38)	missense	probably damaging	0.99
R8058:Ube3b	UTSW	5	114,406,785 (GRCm38)	missense	possibly damaging	0.58
R8087:Ube3b	UTSW	5	114,412,489 (GRCm38)	critical splice donor site	probably null
R8182:Ube3b	UTSW	5	114,392,138 (GRCm38)	missense	possibly damaging	0.77
R8322:Ube3b	UTSW	5	114,402,686 (GRCm38)	missense	probably benign	0.04
R8465:Ube3b	UTSW	5	114,390,390 (GRCm38)	missense	probably damaging	1.00
R8682:Ube3b	UTSW	5	114,412,290 (GRCm38)	missense	probably damaging	1.00
R8708:Ube3b	UTSW	5	114,393,090 (GRCm38)	missense	probably benign	0.34
R8758:Ube3b	UTSW	5	114,415,200 (GRCm38)	critical splice acceptor site	probably benign
R8784:Ube3b	UTSW	5	114,388,739 (GRCm38)	missense	probably damaging	1.00
R9058:Ube3b	UTSW	5	114,415,239 (GRCm38)	missense	probably benign	0.05
R9072:Ube3b	UTSW	5	114,404,546 (GRCm38)	missense	probably damaging	0.98
R9116:Ube3b	UTSW	5	114,404,776 (GRCm38)	intron	probably benign
R9537:Ube3b	UTSW	5	114,387,184 (GRCm38)	missense	probably damaging	1.00
R9596:Ube3b	UTSW	5	114,389,110 (GRCm38)	missense	probably damaging	1.00
R9632:Ube3b	UTSW	5	114,415,309 (GRCm38)	missense	probably benign	0.00
R9710:Ube3b	UTSW	5	114,415,309 (GRCm38)	missense	probably benign	0.00
X0017:Ube3b	UTSW	5	114,415,585 (GRCm38)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- AAGCTAGCATGCTATTCTCCC -3'
(R):5'- ACTAGTCACAGTCCCATGCG -3'

Sequencing Primer
(F):5'- CTCCCATTTGTCTAGAAGTCAGTGAG -3'
(R):5'- CTGCCTGAGAGAGCTTTGCAG -3'

Posted On

2016-06-06