Mutagenetix > Incidental Mutation

Incidental Mutation 'R3927:Ube3b'

308325

Institutional Source

Beutler Lab

Gene Symbol

Ube3b

Ensembl Gene

ENSMUSG00000029577

Gene Name

ubiquitin protein ligase E3B

Synonyms

MMRRC Submission

040822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114518668-114559230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114553741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 974 (F974L)

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: F974L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: F974L

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

Meta Mutation Damage Score

0.6212

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

95% (40/42)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,538,563 (GRCm39)		probably null	Het
Alpk1	T	C	3: 127,471,365 (GRCm39)	H1039R	probably damaging	Het
Avpr1a	A	G	10: 122,285,616 (GRCm39)	S303G	probably benign	Het
Axdnd1	A	G	1: 156,246,840 (GRCm39)	L79S	probably damaging	Het
Baz1a	A	G	12: 54,967,928 (GRCm39)	I667T	possibly damaging	Het
Bend5	A	G	4: 111,305,802 (GRCm39)	Y282C	possibly damaging	Het
Clstn3	T	C	6: 124,428,327 (GRCm39)	D438G	probably damaging	Het
Cog3	A	G	14: 75,980,998 (GRCm39)		probably benign	Het
Cyp2j6	T	C	4: 96,441,525 (GRCm39)	N55S	probably benign	Het
Eif4b	G	A	15: 101,992,745 (GRCm39)	G101R	probably damaging	Het
Epha2	T	C	4: 141,033,861 (GRCm39)	L40P	probably damaging	Het
Fig4	A	G	10: 41,139,135 (GRCm39)	V356A	probably benign	Het
Hal	T	C	10: 93,349,888 (GRCm39)		probably benign	Het
Helz	A	G	11: 107,576,118 (GRCm39)	Y1770C	unknown	Het
Meis3	A	G	7: 15,911,419 (GRCm39)	T39A	probably benign	Het
Nod1	G	T	6: 54,921,902 (GRCm39)	R139S	probably benign	Het
Or6n2	A	T	1: 173,896,878 (GRCm39)	N5Y	probably damaging	Het
Pacsin3	C	T	2: 91,093,286 (GRCm39)		probably null	Het
Plekhh1	T	A	12: 79,100,422 (GRCm39)	I130N	probably damaging	Het
Plxna2	G	A	1: 194,428,465 (GRCm39)	E512K	probably benign	Het
Ppp1r9a	A	G	6: 5,057,531 (GRCm39)	I215M	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sap130	A	T	18: 31,807,435 (GRCm39)	H414L	possibly damaging	Het
Slc33a1	A	G	3: 63,871,145 (GRCm39)	I156T	probably benign	Het
Slc37a2	G	A	9: 37,146,803 (GRCm39)	T338M	probably damaging	Het
Spinkl	T	A	18: 44,302,230 (GRCm39)		probably null	Het
Tmc5	T	A	7: 118,251,878 (GRCm39)	L657*	probably null	Het
Tmem217	A	G	17: 29,745,677 (GRCm39)	S18P	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Tubb4a	A	G	17: 57,387,967 (GRCm39)	V353A	probably benign	Het
Ubqln5	A	G	7: 103,777,678 (GRCm39)	L382P	probably damaging	Het
Ufsp2	T	A	8: 46,436,723 (GRCm39)		probably null	Het
Unkl	C	T	17: 25,448,303 (GRCm39)	T66I	probably damaging	Het
Xrn2	T	A	2: 146,880,109 (GRCm39)	N477K	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zzef1	T	C	11: 72,749,208 (GRCm39)	S899P	probably damaging	Het
Zzz3	T	C	3: 152,161,499 (GRCm39)	Y298H	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
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
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'- TAGTTTCCGGGAGATGAGGC -3'
(R):5'- CTAAGCACAGTGATGCACAGG -3'

Sequencing Primer
(F):5'- CCATGGTATGGGTGCACCTC -3'
(R):5'- CTCCACAGCAAGGAGCCG -3'

Posted On

2015-04-17