Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02533:Ube3a'

297379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube3a

Ensembl Gene

ENSMUSG00000025326

Gene Name

ubiquitin protein ligase E3A

Synonyms

Hpve6a, 5830462N02Rik, E6-AP ubiquitin protein ligase, A130086L21Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

IGL02533

Quality Score

Status

Chromosome

Chromosomal Location

59228750-59311536 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59304832 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 818 (F818L)

Ref Sequence

ENSEMBL: ENSMUSP00000103161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107537] [ENSMUST00000200758]

Predicted Effect

probably damaging
Transcript: ENSMUST00000107537
AA Change: F818L

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

SMART Domains

Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326
AA Change: F818L

Domain	Start	End	E-Value	Type
Pfam:AZUL	27	81	1.7e-21	PFAM
Blast:HECTc	108	169	2e-20	BLAST
low complexity region	170	207	N/A	INTRINSIC
Blast:HECTc	359	480	1e-12	BLAST
HECTc	540	870	5.05e-180	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190666

Predicted Effect

probably damaging
Transcript: ENSMUST00000200758
AA Change: F839L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326
AA Change: F839L

Domain	Start	End	E-Value	Type
Pfam:AZUL	27	81	1.7e-21	PFAM
Blast:HECTc	108	169	2e-20	BLAST
low complexity region	170	207	N/A	INTRINSIC
Blast:HECTc	359	480	1e-12	BLAST
HECTc	540	870	5.05e-180	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201162

Predicted Effect

unknown
Transcript: ENSMUST00000202247
AA Change: F160L

Predicted Effect

unknown
Transcript: ENSMUST00000202288
AA Change: F111L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202685

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with maternally inherited targeted null mutations exhibit reduced brain weight, impaired motor function, inducible seizures, learning deficits, abnormal hippocampal electroencephalographic recordings, and severely impaired long-term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1m2	T	C	9: 21,296,501	Y396C	probably damaging	Het
Bach2	T	C	4: 32,562,451	V306A	probably benign	Het
BC080695	A	G	4: 143,571,002		probably benign	Het
Cnga4	T	C	7: 105,407,961	Y424H	probably damaging	Het
Cops9	T	C	1: 92,639,716	E79G	possibly damaging	Het
Crebbp	T	C	16: 4,107,432	N769D	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dennd4b	A	T	3: 90,272,310	H636L	probably benign	Het
Dpysl3	T	C	18: 43,325,794	T632A	probably benign	Het
Gabbr1	C	T	17: 37,072,147	R857C	probably damaging	Het
Gbp10	A	T	5: 105,220,035	V424D	probably damaging	Het
Gnptg	T	C	17: 25,235,455	E146G	possibly damaging	Het
Has2	A	T	15: 56,681,695	H170Q	probably benign	Het
Il22ra1	G	A	4: 135,744,723	G190D	possibly damaging	Het
Lhcgr	T	C	17: 88,742,410	T563A	probably benign	Het
Mgat4b	T	A	11: 50,233,552	F413Y	probably damaging	Het
Mms22l	T	A	4: 24,581,099		probably benign	Het
Muc19	C	T	15: 91,898,047		noncoding transcript	Het
Ncoa7	A	C	10: 30,722,785	D47E	probably damaging	Het
Ncoa7	A	T	10: 30,690,899	S545R	possibly damaging	Het
Nme1	A	G	11: 93,959,431	Y142H	possibly damaging	Het
Olfr1104	T	A	2: 87,022,353	S64C	probably damaging	Het
Olfr1404	A	T	1: 173,216,061	M137L	probably damaging	Het
Olfr193	T	A	16: 59,109,684	T309S	probably benign	Het
Per2	A	G	1: 91,431,002	I587T	possibly damaging	Het
Pias3	A	G	3: 96,699,616	D65G	possibly damaging	Het
Prkacb	T	C	3: 146,732,696	I304M	possibly damaging	Het
Ripor2	G	T	13: 24,701,395	E538*	probably null	Het
Sart1	G	A	19: 5,383,721	R363*	probably null	Het
Serpinb3a	T	G	1: 107,047,162	I214L	probably benign	Het
Spon2	C	A	5: 33,214,598	C288F	probably damaging	Het
Tmprss11a	G	A	5: 86,414,527	R320C	probably damaging	Het
Trpm5	T	A	7: 143,089,545	I22F	probably benign	Het
Vmn1r120	T	G	7: 21,053,138	Q216P	probably damaging	Het
Vmn2r4	A	C	3: 64,398,419	Y527*	probably null	Het
Zfp618	A	T	4: 63,089,405	Y125F	probably damaging	Het

Other mutations in Ube3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Ube3a	APN	7	59272110	missense	probably damaging	1.00
IGL00886:Ube3a	APN	7	59284737	missense	probably damaging	1.00
IGL02037:Ube3a	APN	7	59275758	unclassified	probably benign
IGL02127:Ube3a	APN	7	59276041	missense	probably benign	0.03
IGL02228:Ube3a	APN	7	59288396	splice site	probably benign
IGL02706:Ube3a	APN	7	59272133	missense	possibly damaging	0.67
IGL03037:Ube3a	APN	7	59247223	splice site	probably benign
IGL03213:Ube3a	APN	7	59286122	nonsense	probably null
IGL03306:Ube3a	APN	7	59286147	missense	probably damaging	1.00
Kebab	UTSW	7	59288488	missense	probably damaging	1.00
Shawarma	UTSW	7	59276183	nonsense	probably null
PIT4362001:Ube3a	UTSW	7	59276122	missense	possibly damaging	0.86
R0847:Ube3a	UTSW	7	59276586	missense	possibly damaging	0.80
R1765:Ube3a	UTSW	7	59286114	missense	probably damaging	1.00
R1771:Ube3a	UTSW	7	59275966	missense	probably damaging	1.00
R1926:Ube3a	UTSW	7	59276379	missense	probably damaging	1.00
R1992:Ube3a	UTSW	7	59303787	missense	probably damaging	1.00
R2026:Ube3a	UTSW	7	59303726	missense	probably damaging	1.00
R2104:Ube3a	UTSW	7	59276477	missense	possibly damaging	0.95
R3176:Ube3a	UTSW	7	59276519	nonsense	probably null
R3276:Ube3a	UTSW	7	59276519	nonsense	probably null
R3623:Ube3a	UTSW	7	59272112	missense	probably damaging	1.00
R3624:Ube3a	UTSW	7	59272112	missense	probably damaging	1.00
R3690:Ube3a	UTSW	7	59276799	missense	probably damaging	1.00
R4423:Ube3a	UTSW	7	59276113	missense	probably benign	0.10
R4583:Ube3a	UTSW	7	59286063	missense	probably damaging	1.00
R4883:Ube3a	UTSW	7	59243450	start codon destroyed	probably benign	0.21
R4992:Ube3a	UTSW	7	59284820	missense	possibly damaging	0.47
R5175:Ube3a	UTSW	7	59288717	missense	probably damaging	1.00
R5397:Ube3a	UTSW	7	59286912	missense	probably benign	0.26
R5545:Ube3a	UTSW	7	59272024	missense	probably damaging	1.00
R5572:Ube3a	UTSW	7	59288777	missense	probably damaging	1.00
R5635:Ube3a	UTSW	7	59288488	missense	probably damaging	1.00
R5766:Ube3a	UTSW	7	59276059	missense	possibly damaging	0.89
R5890:Ube3a	UTSW	7	59272028	missense	probably damaging	1.00
R5956:Ube3a	UTSW	7	59277020	unclassified	probably benign
R6388:Ube3a	UTSW	7	59304921	unclassified	probably null
R6464:Ube3a	UTSW	7	59276183	nonsense	probably null
R6467:Ube3a	UTSW	7	59276902	missense	probably damaging	1.00
R6474:Ube3a	UTSW	7	59287024	missense	probably damaging	1.00
R6669:Ube3a	UTSW	7	59276857	missense	probably benign	0.02
R7003:Ube3a	UTSW	7	59276440	missense	probably damaging	1.00
R7044:Ube3a	UTSW	7	59288413	missense	probably damaging	1.00
R7187:Ube3a	UTSW	7	59275905	missense	probably benign	0.02
R7360:Ube3a	UTSW	7	59276635	missense	probably damaging	1.00
R7363:Ube3a	UTSW	7	59287003	missense	probably benign	0.00
R7508:Ube3a	UTSW	7	59303689	missense	possibly damaging	0.84
R7652:Ube3a	UTSW	7	59243354	start gained	probably benign
R7768:Ube3a	UTSW	7	59288777	missense	probably damaging	1.00

Posted On

2015-04-16