Mutagenetix > Incidental Mutation

Incidental Mutation 'R5131:Ube3b'

475452

Institutional Source

Beutler Lab

Gene Symbol

Ube3b

Ensembl Gene

ENSMUSG00000029577

Gene Name

ubiquitin protein ligase E3B

Synonyms

MMRRC Submission

042719-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5131 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

114518668-114559230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114545607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 622 (D622G)

Ref Sequence

ENSEMBL: ENSMUSP00000073652 (fasta)

Gene Model

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

AlphaFold

Q9ES34

Predicted Effect

probably damaging
Transcript: ENSMUST00000074002
AA Change: D622G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: D622G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	T	4: 40,163,797 (GRCm39)	P17S	probably benign	Het
Arhgap35	A	G	7: 16,245,112 (GRCm39)		probably null	Het
Brd3	A	T	2: 27,343,427 (GRCm39)	N480K	probably benign	Het
Ccnk	T	C	12: 108,168,890 (GRCm39)		probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh1	T	C	8: 107,390,430 (GRCm39)	V590A	possibly damaging	Het
Cert1	A	G	13: 96,751,343 (GRCm39)	D331G	probably damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 24,991,095 (GRCm39)		probably benign	Het
Cmklr2	T	A	1: 63,222,840 (GRCm39)	S132C	probably damaging	Het
Cyp4a12a	T	A	4: 115,185,017 (GRCm39)	D399E	possibly damaging	Het
Dnah11	A	C	12: 117,918,486 (GRCm39)	Y3482D	probably damaging	Het
Gtf3c3	A	T	1: 54,458,657 (GRCm39)		probably null	Het
Gzmk	G	T	13: 113,310,482 (GRCm39)	A73E	probably benign	Het
Hnrnpul1	A	G	7: 25,426,219 (GRCm39)	V444A	probably benign	Het
Lgr4	T	C	2: 109,842,678 (GRCm39)	S864P	probably benign	Het
Lrp2	A	T	2: 69,260,686 (GRCm39)	V4515E	possibly damaging	Het
Map3k19	A	T	1: 127,751,427 (GRCm39)	N641K	possibly damaging	Het
Mesp2	A	G	7: 79,461,475 (GRCm39)	T267A	possibly damaging	Het
Mipep	T	C	14: 61,140,823 (GRCm39)	L682P	probably damaging	Het
Nalcn	G	T	14: 123,753,182 (GRCm39)	T268K	probably damaging	Het
Ncam2	T	C	16: 81,234,550 (GRCm39)	V135A	probably benign	Het
Ndufaf6	G	T	4: 11,060,931 (GRCm39)	T215K	probably damaging	Het
Nr1h4	T	C	10: 89,319,317 (GRCm39)	D183G	probably damaging	Het
Pate9	C	T	9: 36,446,242 (GRCm39)	A57T	possibly damaging	Het
Pax2	G	T	19: 44,749,394 (GRCm39)	V41L	probably damaging	Het
Pde4dip	T	A	3: 97,616,830 (GRCm39)	N1804I	probably damaging	Het
Phtf2	A	T	5: 20,979,050 (GRCm39)	V526E	probably damaging	Het
Ppp1ca	G	A	19: 4,244,895 (GRCm39)	C291Y	probably damaging	Het
Prag1	G	T	8: 36,607,123 (GRCm39)	G955C	probably damaging	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rnf181	G	A	6: 72,337,811 (GRCm39)		probably null	Het
Rsbn1l	G	A	5: 21,101,243 (GRCm39)	R766C	possibly damaging	Het
Rusc2	C	T	4: 43,414,948 (GRCm39)	P85S	probably benign	Het
Rxfp1	T	C	3: 79,559,471 (GRCm39)		probably null	Het
Serpinb6a	T	A	13: 34,102,855 (GRCm39)	M202L	probably benign	Het
Snd1	T	C	6: 28,885,049 (GRCm39)	F800S	probably damaging	Het
Tbc1d2b	G	A	9: 90,091,812 (GRCm39)	T830I	probably damaging	Het
Tmem209	A	T	6: 30,497,166 (GRCm39)	N183K	probably benign	Het
Tmtc3	T	C	10: 100,284,841 (GRCm39)	D598G	probably damaging	Het
Zbtb43	A	T	2: 33,344,778 (GRCm39)	M112K	probably damaging	Het

Other mutations in Ube3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ube3b	APN	5	114,553,348 (GRCm39)	missense	possibly damaging	0.93
IGL01154:Ube3b	APN	5	114,544,313 (GRCm39)	missense	probably null	0.86
IGL02632:Ube3b	APN	5	114,536,902 (GRCm39)	missense	probably benign
IGL02850:Ube3b	APN	5	114,544,310 (GRCm39)	missense	probably damaging	1.00
IGL02878:Ube3b	APN	5	114,542,778 (GRCm39)	splice site	probably null
IGL02881:Ube3b	APN	5	114,550,945 (GRCm39)	missense	possibly damaging	0.78
R0003:Ube3b	UTSW	5	114,536,912 (GRCm39)	missense	probably benign	0.17
R0071:Ube3b	UTSW	5	114,557,558 (GRCm39)	missense	probably damaging	1.00
R0071:Ube3b	UTSW	5	114,557,558 (GRCm39)	missense	probably damaging	1.00
R0076:Ube3b	UTSW	5	114,546,278 (GRCm39)	critical splice donor site	probably null
R0076:Ube3b	UTSW	5	114,546,278 (GRCm39)	critical splice donor site	probably null
R0111:Ube3b	UTSW	5	114,528,437 (GRCm39)	splice site	probably benign
R0309:Ube3b	UTSW	5	114,557,530 (GRCm39)	splice site	probably benign
R0718:Ube3b	UTSW	5	114,540,616 (GRCm39)	nonsense	probably null
R1344:Ube3b	UTSW	5	114,556,636 (GRCm39)	missense	probably damaging	1.00
R1350:Ube3b	UTSW	5	114,544,198 (GRCm39)	splice site	probably null
R1418:Ube3b	UTSW	5	114,556,636 (GRCm39)	missense	probably damaging	1.00
R1732:Ube3b	UTSW	5	114,525,506 (GRCm39)	missense	probably benign	0.01
R1764:Ube3b	UTSW	5	114,542,678 (GRCm39)	missense	possibly damaging	0.89
R1975:Ube3b	UTSW	5	114,537,926 (GRCm39)	missense	possibly damaging	0.80
R2014:Ube3b	UTSW	5	114,549,210 (GRCm39)	missense	probably damaging	1.00
R2015:Ube3b	UTSW	5	114,549,210 (GRCm39)	missense	probably damaging	1.00
R2041:Ube3b	UTSW	5	114,525,294 (GRCm39)	missense	probably damaging	0.99
R2074:Ube3b	UTSW	5	114,553,316 (GRCm39)	missense	probably benign	0.14
R2202:Ube3b	UTSW	5	114,527,135 (GRCm39)	missense	probably damaging	1.00
R2205:Ube3b	UTSW	5	114,527,135 (GRCm39)	missense	probably damaging	1.00
R3826:Ube3b	UTSW	5	114,538,012 (GRCm39)	missense	probably damaging	0.99
R3829:Ube3b	UTSW	5	114,538,012 (GRCm39)	missense	probably damaging	0.99
R3830:Ube3b	UTSW	5	114,538,012 (GRCm39)	missense	probably damaging	0.99
R3927:Ube3b	UTSW	5	114,553,741 (GRCm39)	missense	probably benign	0.03
R3974:Ube3b	UTSW	5	114,550,491 (GRCm39)	missense	probably benign	0.05
R4049:Ube3b	UTSW	5	114,550,931 (GRCm39)	missense	probably benign	0.09
R4096:Ube3b	UTSW	5	114,531,147 (GRCm39)	missense	possibly damaging	0.65
R4261:Ube3b	UTSW	5	114,536,489 (GRCm39)	missense	possibly damaging	0.80
R4415:Ube3b	UTSW	5	114,550,505 (GRCm39)	missense	probably damaging	1.00
R4688:Ube3b	UTSW	5	114,531,139 (GRCm39)	missense	probably benign	0.03
R4779:Ube3b	UTSW	5	114,542,778 (GRCm39)	splice site	probably null
R4824:Ube3b	UTSW	5	114,553,787 (GRCm39)	splice site	probably null
R4868:Ube3b	UTSW	5	114,536,488 (GRCm39)	missense	probably benign	0.00
R4953:Ube3b	UTSW	5	114,539,471 (GRCm39)	missense	probably benign	0.01
R5013:Ube3b	UTSW	5	114,545,702 (GRCm39)	missense	probably damaging	1.00
R5057:Ube3b	UTSW	5	114,544,318 (GRCm39)	missense	probably benign	0.01
R5117:Ube3b	UTSW	5	114,557,692 (GRCm39)	missense	probably damaging	0.96
R5498:Ube3b	UTSW	5	114,556,635 (GRCm39)	missense	probably damaging	1.00
R5564:Ube3b	UTSW	5	114,527,136 (GRCm39)	missense	probably damaging	1.00
R5572:Ube3b	UTSW	5	114,544,240 (GRCm39)	missense	probably damaging	0.99
R5580:Ube3b	UTSW	5	114,553,384 (GRCm39)	missense	probably benign
R5596:Ube3b	UTSW	5	114,544,221 (GRCm39)	splice site	probably null
R5843:Ube3b	UTSW	5	114,550,360 (GRCm39)	missense	probably damaging	1.00
R5910:Ube3b	UTSW	5	114,553,370 (GRCm39)	missense	possibly damaging	0.63
R6591:Ube3b	UTSW	5	114,546,185 (GRCm39)	missense	probably benign	0.00
R6691:Ube3b	UTSW	5	114,546,185 (GRCm39)	missense	probably benign	0.00
R7148:Ube3b	UTSW	5	114,544,313 (GRCm39)	missense	probably damaging	0.97
R7334:Ube3b	UTSW	5	114,553,742 (GRCm39)	missense	possibly damaging	0.64
R7438:Ube3b	UTSW	5	114,556,687 (GRCm39)	missense	probably damaging	1.00
R7438:Ube3b	UTSW	5	114,553,345 (GRCm39)	missense	possibly damaging	0.79
R7640:Ube3b	UTSW	5	114,553,384 (GRCm39)	missense	probably benign
R7825:Ube3b	UTSW	5	114,539,373 (GRCm39)	missense	probably damaging	1.00
R7958:Ube3b	UTSW	5	114,539,484 (GRCm39)	missense	probably benign	0.05
R8025:Ube3b	UTSW	5	114,546,270 (GRCm39)	missense	probably damaging	0.99
R8058:Ube3b	UTSW	5	114,544,846 (GRCm39)	missense	possibly damaging	0.58
R8087:Ube3b	UTSW	5	114,550,550 (GRCm39)	critical splice donor site	probably null
R8182:Ube3b	UTSW	5	114,530,199 (GRCm39)	missense	possibly damaging	0.77
R8322:Ube3b	UTSW	5	114,540,747 (GRCm39)	missense	probably benign	0.04
R8465:Ube3b	UTSW	5	114,528,451 (GRCm39)	missense	probably damaging	1.00
R8682:Ube3b	UTSW	5	114,550,351 (GRCm39)	missense	probably damaging	1.00
R8708:Ube3b	UTSW	5	114,531,151 (GRCm39)	missense	probably benign	0.34
R8758:Ube3b	UTSW	5	114,553,261 (GRCm39)	critical splice acceptor site	probably benign
R8784:Ube3b	UTSW	5	114,526,800 (GRCm39)	missense	probably damaging	1.00
R9058:Ube3b	UTSW	5	114,553,300 (GRCm39)	missense	probably benign	0.05
R9072:Ube3b	UTSW	5	114,542,607 (GRCm39)	missense	probably damaging	0.98
R9116:Ube3b	UTSW	5	114,542,837 (GRCm39)	intron	probably benign
R9537:Ube3b	UTSW	5	114,525,245 (GRCm39)	missense	probably damaging	1.00
R9596:Ube3b	UTSW	5	114,527,171 (GRCm39)	missense	probably damaging	1.00
R9632:Ube3b	UTSW	5	114,553,370 (GRCm39)	missense	probably benign	0.00
R9710:Ube3b	UTSW	5	114,553,370 (GRCm39)	missense	probably benign	0.00
X0017:Ube3b	UTSW	5	114,553,646 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- AGACTCAGCCTCTGTCTGTC -3'
(R):5'- TGTGGACTTACACAGCACAC -3'

Sequencing Primer
(F):5'- ACCACTCCCTCTGCTTGGTG -3'
(R):5'- CTGCCTGAGACAGAAGGACC -3'

Posted On

2017-04-24