Mutagenetix > Incidental Mutation

Incidental Mutation 'R6591:Ube3b'

524561

Institutional Source

Beutler Lab

Gene Symbol

Ube3b

Ensembl Gene

ENSMUSG00000029577

Gene Name

ubiquitin protein ligase E3B

Synonyms

MMRRC Submission

044715-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6591 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114380607-114421169 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114408124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 664 (I664V)

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: I664V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: I664V

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

100% (34/34)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300009A05Rik	A	G	9: 63,398,954 (GRCm38)	Y90H	probably damaging	Het
Agk	A	G	6: 40,392,690 (GRCm38)	D337G	probably benign	Het
Amn	A	G	12: 111,275,397 (GRCm38)	H299R	possibly damaging	Het
Angptl4	A	G	17: 33,780,781 (GRCm38)		probably null	Het
AU040320	G	A	4: 126,836,670 (GRCm38)	M563I	possibly damaging	Het
Cachd1	T	C	4: 100,989,486 (GRCm38)	M1042T	probably benign	Het
Cd209c	T	A	8: 3,945,680 (GRCm38)	I41L	probably benign	Het
Ceacam12	T	A	7: 18,069,224 (GRCm38)	V185D	possibly damaging	Het
Chpt1	A	T	10: 88,485,900 (GRCm38)		probably benign	Het
Clca1	G	C	3: 145,013,883 (GRCm38)	A442G	probably damaging	Het
Cldn8	T	C	16: 88,562,535 (GRCm38)	I167M	possibly damaging	Het
Cln3	A	G	7: 126,579,434 (GRCm38)	V143A	possibly damaging	Het
Dusp11	T	C	6: 85,961,525 (GRCm38)	H4R	possibly damaging	Het
Ephb3	T	A	16: 21,214,473 (GRCm38)	F69Y	probably damaging	Het
Gm11099	A	T	2: 58,859,473 (GRCm38)		probably benign	Het
Grik2	A	T	10: 49,272,925 (GRCm38)	Y521*	probably null	Het
Igf2r	A	G	17: 12,689,008 (GRCm38)	L2143P	probably damaging	Het
Kcnk1	T	C	8: 126,025,231 (GRCm38)	V192A	probably benign	Het
Olfr1055	A	C	2: 86,347,419 (GRCm38)	S116A	probably damaging	Het
Olfr1254	A	T	2: 89,788,988 (GRCm38)	Y121*	probably null	Het
Parp3	A	G	9: 106,473,692 (GRCm38)	S329P	probably benign	Het
Pld3	A	T	7: 27,532,316 (GRCm38)	N483K	probably benign	Het
Rbm33	A	T	5: 28,352,546 (GRCm38)	E252D	probably damaging	Het
Ryr2	T	C	13: 11,594,723 (GRCm38)	T4406A	probably benign	Het
Sgsm3	A	G	15: 81,008,862 (GRCm38)	D380G	possibly damaging	Het
Sorl1	G	T	9: 42,002,567 (GRCm38)	D1355E	probably damaging	Het
Sptbn1	A	G	11: 30,113,984 (GRCm38)	S1945P	probably damaging	Het
Ube2m	A	T	7: 13,036,469 (GRCm38)	F70I	probably damaging	Het
Ugt1a7c	A	G	1: 88,095,656 (GRCm38)	E179G	possibly damaging	Het
Vps50	T	C	6: 3,504,939 (GRCm38)		probably null	Het
Xpo1	T	C	11: 23,286,875 (GRCm38)	L718P	probably damaging	Het
Zfp354c	A	G	11: 50,814,775 (GRCm38)	I491T	probably benign	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
R5057:Ube3b	UTSW	5	114,406,257 (GRCm38)	missense	probably benign	0.01
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
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'- TCACTGTTCTCCCAGGACAC -3'
(R):5'- TTAGCATAGCACAGAGTGACAG -3'

Sequencing Primer
(F):5'- GTTCTCCCAGGACACCTCTGAG -3'
(R):5'- CATAGCACAGAGTGACAGGAGAGTC -3'

Posted On

2018-06-22