Mutagenetix > Incidental Mutation

Incidental Mutation 'R9537:Ube3b'

719738

Institutional Source

Beutler Lab

Gene Symbol

Ube3b

Ensembl Gene

ENSMUSG00000029577

Gene Name

ubiquitin protein ligase E3B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114518668-114559230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114525245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 23 (R23G)

Ref Sequence

ENSEMBL: ENSMUSP00000073652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074002] [ENSMUST00000130169] [ENSMUST00000151809]

AlphaFold

Q9ES34

Predicted Effect

probably damaging
Transcript: ENSMUST00000074002
AA Change: R23G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: R23G

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 damaging
Transcript: ENSMUST00000130169
AA Change: R23G

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

SMART Domains

Protein: ENSMUSP00000138723
Gene: ENSMUSG00000029577
AA Change: R23G

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

Predicted Effect

unknown
Transcript: ENSMUST00000151809
AA Change: R23G

SMART Domains

Protein: ENSMUSP00000142943
Gene: ENSMUSG00000029577
AA Change: R23G

Domain	Start	End	E-Value	Type
IQ	28	50	5.6e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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
Adgra3	A	G	5: 50,118,207 (GRCm39)	Y1114H	possibly damaging	Het
Atp5pf	A	G	16: 84,625,358 (GRCm39)	Y82H	probably damaging	Het
Bcl2a1d	T	G	9: 88,613,526 (GRCm39)	I83L	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bglap3	T	C	3: 88,276,139 (GRCm39)	D71G	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Chmp2b	T	C	16: 65,347,932 (GRCm39)	K15E	probably benign	Het
Chrm3	A	T	13: 9,927,462 (GRCm39)	W525R	probably damaging	Het
Col7a1	A	T	9: 108,784,420 (GRCm39)	K143*	probably null	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dnai1	A	G	4: 41,629,790 (GRCm39)		probably null	Het
Dnhd1	G	A	7: 105,344,740 (GRCm39)	G2028D	probably damaging	Het
Esyt3	C	T	9: 99,199,292 (GRCm39)	R773Q	probably damaging	Het
Ffar1	T	C	7: 30,560,025 (GRCm39)	T291A	probably benign	Het
Golga2	G	T	2: 32,178,313 (GRCm39)		probably benign	Het
Hapln2	T	A	3: 87,931,780 (GRCm39)		probably null	Het
Ing1	T	C	8: 11,611,889 (GRCm39)	L203P	probably benign	Het
Litafd	G	T	16: 8,501,177 (GRCm39)	C11F		Het
Mab21l4	T	C	1: 93,080,884 (GRCm39)	K341E	possibly damaging	Het
Med1	T	C	11: 98,062,586 (GRCm39)	T171A	possibly damaging	Het
Mib2	A	T	4: 155,741,952 (GRCm39)	L387H	probably damaging	Het
Mier1	A	G	4: 103,019,758 (GRCm39)	N494S	probably benign	Het
Myof	A	G	19: 37,896,054 (GRCm39)	L1847P	probably damaging	Het
Ndst3	A	T	3: 123,465,162 (GRCm39)	V270D		Het
Nup160	T	C	2: 90,560,088 (GRCm39)	L1271S	possibly damaging	Het
Osgep	A	T	14: 51,162,119 (GRCm39)		probably null	Het
Ptgfr	G	T	3: 151,541,445 (GRCm39)	T21N	possibly damaging	Het
Ptgs1	T	C	2: 36,120,739 (GRCm39)	S23P	unknown	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Smu1	A	G	4: 40,755,671 (GRCm39)	S65P	probably benign	Het
Spef2	T	C	15: 9,601,885 (GRCm39)	Y1459C	unknown	Het
Spen	A	G	4: 141,199,015 (GRCm39)	V3204A	probably benign	Het
Spen	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	4: 141,244,156 (GRCm39)		probably benign	Het
Timm44	G	A	8: 4,310,576 (GRCm39)	T392I	possibly damaging	Het
Tnc	A	T	4: 63,884,821 (GRCm39)	I1818N	probably damaging	Het
Trpm1	G	T	7: 63,803,616 (GRCm39)		probably benign	Het
Ttc14	A	G	3: 33,857,347 (GRCm39)	Y231C	probably damaging	Het
Usp40	T	C	1: 87,935,117 (GRCm39)	Y10C	probably benign	Het
Vmn2r107	C	A	17: 20,595,149 (GRCm39)	S567R	probably benign	Het
Zfp112	T	C	7: 23,826,512 (GRCm39)	Y831H	probably damaging	Het
Zfy2	T	A	Y: 2,108,596 (GRCm39)	T355S		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
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
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'- TGTTCCACACTGTGACCCAC -3'
(R):5'- TACTGGACCCAGACTCATCAGC -3'

Sequencing Primer
(F):5'- ACACCAGACCCTGCCGTG -3'
(R):5'- TCTTTCCTAGATAGACAAAAAGAGGG -3'

Posted On

2022-07-18