Mutagenetix > Incidental Mutation

Incidental Mutation 'R4415:Ube3b'

326788

Institutional Source

Beutler Lab

Gene Symbol

Ube3b

Ensembl Gene

ENSMUSG00000029577

Gene Name

ubiquitin protein ligase E3B

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114518668-114559230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114550505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 844 (D844V)

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: D844V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: D844V

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

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: 97.3%
20x: 95.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	A	T	11: 105,895,947 (GRCm39)	D631V	probably benign	Het
Adam17	T	C	12: 21,395,702 (GRCm39)	I274V	possibly damaging	Het
Aebp1	A	G	11: 5,815,451 (GRCm39)	D303G	probably damaging	Het
B020004C17Rik	T	C	14: 57,254,874 (GRCm39)	*233R	probably null	Het
Bcl9l	C	T	9: 44,413,176 (GRCm39)	P127S	possibly damaging	Het
Bdp1	T	C	13: 100,167,369 (GRCm39)	D2215G	probably damaging	Het
Caly	T	C	7: 139,652,593 (GRCm39)	T52A	probably damaging	Het
Ccdc125	T	C	13: 100,832,817 (GRCm39)	S465P	possibly damaging	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Colq	T	C	14: 31,257,645 (GRCm39)	K231E	probably damaging	Het
Fam32a	T	A	8: 72,975,785 (GRCm39)	I77N	probably damaging	Het
Impdh1	C	T	6: 29,209,221 (GRCm39)	V49M	probably damaging	Het
Kcnh7	A	G	2: 62,536,417 (GRCm39)	I1055T	probably damaging	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lama2	G	T	10: 26,865,340 (GRCm39)	Y947*	probably null	Het
Myo5b	T	A	18: 74,713,479 (GRCm39)	I108N	probably damaging	Het
Nvl	T	C	1: 180,932,679 (GRCm39)	T713A	probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Or6c70	T	C	10: 129,709,826 (GRCm39)	T267A	probably benign	Het
Pappa	A	G	4: 65,223,532 (GRCm39)	T1236A	probably benign	Het
Pip4p2	C	T	4: 14,912,463 (GRCm39)	R191C	probably damaging	Het
Rcl1	G	A	19: 29,095,762 (GRCm39)	V116I	probably benign	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Rfx2	T	A	17: 57,094,733 (GRCm39)	T204S	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Ripor1	T	C	8: 106,344,608 (GRCm39)	S581P	probably benign	Het
Rnf213	T	A	11: 119,374,790 (GRCm39)	V5084E	probably damaging	Het
Scn9a	A	T	2: 66,357,037 (GRCm39)	V1077E	probably damaging	Het
Slc15a5	A	G	6: 138,056,754 (GRCm39)	V54A	probably benign	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Snx19	T	A	9: 30,348,779 (GRCm39)	L804Q	probably damaging	Het
Spata31e5	T	A	1: 28,816,214 (GRCm39)	Q606L	probably benign	Het
Specc1l	C	A	10: 75,082,162 (GRCm39)	N519K	possibly damaging	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Stambp	A	T	6: 83,534,464 (GRCm39)	N274K	probably damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Tacc3	T	G	5: 33,824,028 (GRCm39)		probably null	Het
Tubb1	G	A	2: 174,299,466 (GRCm39)	E383K	probably benign	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
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
R5131:Ube3b	UTSW	5	114,545,607 (GRCm39)	missense	probably damaging	1.00
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'- TCTTCTACAGCTCCGTGGATG -3'
(R):5'- ATTTGCACTGAGGCTGCTGG -3'

Sequencing Primer
(F):5'- TCCGTGGATGAGCTTCCC -3'
(R):5'- CTGGGTGCCACAGAGGTAG -3'

Posted On

2015-07-07