Mutagenetix > Incidental Mutation

Incidental Mutation 'R1992:Ube3a'

223643

Institutional Source

Beutler Lab

Gene Symbol

Ube3a

Ensembl Gene

ENSMUSG00000025326

Gene Name

ubiquitin protein ligase E3A

Synonyms

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

MMRRC Submission

040003-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R1992 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58878498-58961284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58953535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 823 (A823V)

Ref Sequence

ENSEMBL: ENSMUSP00000143859 (fasta)

Gene Model

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

AlphaFold

O08759

Predicted Effect

probably damaging
Transcript: ENSMUST00000107537
AA Change: A802V

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

SMART Domains

Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326
AA Change: A802V

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: A823V

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

SMART Domains

Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326
AA Change: A823V

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: A144V

Predicted Effect

unknown
Transcript: ENSMUST00000202288
AA Change: A95V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202685

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.5%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	C	1: 138,781,380 (GRCm39)	T90A	probably damaging	Het
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abcc2	A	T	19: 43,795,581 (GRCm39)	I446F	probably damaging	Het
Adam34l	T	C	8: 44,080,176 (GRCm39)	K16R	probably benign	Het
Adamts14	A	G	10: 61,034,439 (GRCm39)	Y1150H	probably benign	Het
Adgrl2	A	G	3: 148,522,880 (GRCm39)	I217T	possibly damaging	Het
Afap1l1	A	T	18: 61,874,842 (GRCm39)	Y446*	probably null	Het
Aimp2	G	A	5: 143,843,548 (GRCm39)	A14V	probably damaging	Het
Akap8	G	A	17: 32,535,586 (GRCm39)	H143Y	probably damaging	Het
Aldh2	A	T	5: 121,714,026 (GRCm39)	V207E	possibly damaging	Het
Aoc1l2	T	A	6: 48,907,703 (GRCm39)	H234Q	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Arpp21	T	C	9: 111,986,861 (GRCm39)	E230G	probably damaging	Het
Arrdc3	G	A	13: 81,031,808 (GRCm39)	D14N	probably damaging	Het
Atn1	A	G	6: 124,722,291 (GRCm39)		probably benign	Het
Atxn7l1	G	A	12: 33,408,743 (GRCm39)	D302N	probably damaging	Het
Bbs1	T	A	19: 4,941,736 (GRCm39)	H518L	probably benign	Het
Bltp1	A	T	3: 37,054,181 (GRCm39)	H3100L	probably benign	Het
Bmpr1a	C	A	14: 34,147,050 (GRCm39)	G241C	probably damaging	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Calcrl	T	C	2: 84,200,855 (GRCm39)	Y63C	probably damaging	Het
Cand2	A	G	6: 115,762,093 (GRCm39)	H173R	possibly damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Card14	A	T	11: 119,212,647 (GRCm39)		probably null	Het
Cd3d	T	A	9: 44,896,299 (GRCm39)	Y29*	probably null	Het
Cd4	A	G	6: 124,844,651 (GRCm39)	V378A	possibly damaging	Het
Cluh	A	T	11: 74,550,828 (GRCm39)	H318L	probably damaging	Het
Clvs1	T	A	4: 9,281,899 (GRCm39)	D114E	probably benign	Het
Cnot4	T	A	6: 35,000,344 (GRCm39)	T548S	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Crebbp	A	T	16: 3,946,561 (GRCm39)		probably null	Het
Dnah7a	T	G	1: 53,621,835 (GRCm39)	K1097Q	possibly damaging	Het
Doc2a	T	A	7: 126,450,979 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,832,833 (GRCm39)	V48E	probably null	Het
Dsg2	A	G	18: 20,734,530 (GRCm39)	K836R	probably damaging	Het
Egr2	T	C	10: 67,375,857 (GRCm39)	V164A	probably damaging	Het
Erbin	A	T	13: 103,970,221 (GRCm39)	S1132T	probably benign	Het
Espn	T	A	4: 152,213,012 (GRCm39)		probably null	Het
Fam83b	A	G	9: 76,399,304 (GRCm39)	S600P	probably benign	Het
Fanca	A	T	8: 124,024,551 (GRCm39)	N425K	possibly damaging	Het
Flot2	C	T	11: 77,949,445 (GRCm39)	L294F	probably damaging	Het
Frs2	A	G	10: 116,910,459 (GRCm39)	V301A	probably benign	Het
Fv1	T	A	4: 147,953,618 (GRCm39)	N61K	possibly damaging	Het
Fxr2	A	G	11: 69,540,659 (GRCm39)	E339G	possibly damaging	Het
Gck	T	C	11: 5,856,515 (GRCm39)	Y214C	probably damaging	Het
Golga3	C	G	5: 110,340,839 (GRCm39)	T551R	probably damaging	Het
Gorab	A	G	1: 163,224,625 (GRCm39)	S59P	probably damaging	Het
Gsdme	C	T	6: 50,185,102 (GRCm39)	V451M	probably damaging	Het
H2-T13	A	C	17: 36,391,938 (GRCm39)	I216S	probably damaging	Het
Herc4	T	A	10: 63,081,743 (GRCm39)	V22E	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa2	A	T	6: 52,141,576 (GRCm39)	S17T	probably damaging	Het
Hs3st5	A	G	10: 36,708,882 (GRCm39)	Y139C	probably damaging	Het
Ism1	G	A	2: 139,587,937 (GRCm39)	V221I	probably benign	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Kdm4c	A	G	4: 74,261,631 (GRCm39)	D602G	possibly damaging	Het
Ktn1	A	G	14: 47,932,978 (GRCm39)	K711E	probably damaging	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Macf1	A	G	4: 123,350,488 (GRCm39)	S3792P	probably damaging	Het
Maml3	C	T	3: 51,598,178 (GRCm39)	M189I	probably benign	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mep1a	T	G	17: 43,813,573 (GRCm39)	I13L	probably benign	Het
Mkrn2	G	T	6: 115,586,562 (GRCm39)	C16F	probably damaging	Het
Mlh1	C	T	9: 111,057,631 (GRCm39)	A727T	probably damaging	Het
Muc21	A	T	17: 35,929,600 (GRCm39)	S1529T	probably benign	Het
Naa16	T	C	14: 79,593,931 (GRCm39)	Y344C	probably damaging	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nlrc4	T	A	17: 74,752,628 (GRCm39)	Y585F	probably benign	Het
Nrcam	A	G	12: 44,587,753 (GRCm39)	K149R	probably damaging	Het
Nufip1	T	A	14: 76,372,287 (GRCm39)	I467N	probably damaging	Het
Nup133	A	G	8: 124,632,960 (GRCm39)	I1057T	possibly damaging	Het
Obscn	A	T	11: 58,886,653 (GRCm39)		probably benign	Het
Or10ag52	T	A	2: 87,043,588 (GRCm39)	C117*	probably null	Het
Or5k1	A	G	16: 58,617,309 (GRCm39)	V300A	probably benign	Het
Or5k14	A	C	16: 58,692,874 (GRCm39)	I213R	probably benign	Het
Pi4k2a	A	T	19: 42,104,377 (GRCm39)	I380F	probably damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pik3cg	A	T	12: 32,254,024 (GRCm39)	D654E	possibly damaging	Het
Poli	G	T	18: 70,642,058 (GRCm39)	P714Q	probably damaging	Het
Polr3f	A	G	2: 144,378,230 (GRCm39)	N201D	probably benign	Het
Prorp	A	G	12: 55,384,991 (GRCm39)	D89G	probably damaging	Het
Ptprz1	A	T	6: 22,959,747 (GRCm39)	K81N	probably benign	Het
Rbm19	T	C	5: 120,271,948 (GRCm39)		probably null	Het
Sec24a	C	T	11: 51,627,190 (GRCm39)	V241I	probably benign	Het
Sgk3	A	G	1: 9,950,567 (GRCm39)	T160A	possibly damaging	Het
Slc1a4	A	G	11: 20,254,375 (GRCm39)	I497T	probably benign	Het
Slc26a9	A	T	1: 131,690,532 (GRCm39)	D512V	probably damaging	Het
Slc43a3	C	T	2: 84,788,084 (GRCm39)	R489C	probably damaging	Het
Slc5a12	T	A	2: 110,452,089 (GRCm39)	F327L	probably benign	Het
Slitrk3	A	G	3: 72,957,104 (GRCm39)	V556A	possibly damaging	Het
Spata6l	A	G	19: 28,926,024 (GRCm39)	F130L	probably damaging	Het
Spib	T	C	7: 44,178,281 (GRCm39)	E180G	probably benign	Het
Spint2	T	A	7: 28,958,833 (GRCm39)	N128Y	probably damaging	Het
Spx	G	A	6: 142,364,245 (GRCm39)	G102E	probably benign	Het
Spz1	T	A	13: 92,712,166 (GRCm39)	E103D	possibly damaging	Het
Sstr2	T	C	11: 113,515,495 (GRCm39)	I138T	probably benign	Het
Sytl3	T	A	17: 7,000,448 (GRCm39)	I206N	possibly damaging	Het
Tcaf2	T	C	6: 42,606,791 (GRCm39)	T388A	probably benign	Het
Tdpoz8	G	T	3: 92,981,344 (GRCm39)	A121S	probably benign	Het
Thap12	T	C	7: 98,365,572 (GRCm39)	V580A	possibly damaging	Het
Tlr5	T	A	1: 182,801,912 (GRCm39)	D405E	probably damaging	Het
Tnxb	T	C	17: 34,890,878 (GRCm39)	V407A	probably damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim43a	T	G	9: 88,466,312 (GRCm39)	L211R	probably damaging	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,424,188 (GRCm39)	S1485L	probably benign	Het
Ttll8	T	C	15: 88,798,654 (GRCm39)	T694A	probably benign	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Ubqln5	C	A	7: 103,778,741 (GRCm39)	V28F	probably damaging	Het
Ulk1	T	A	5: 110,935,017 (GRCm39)	Q972L	probably damaging	Het
Unc93b1	T	C	19: 3,994,062 (GRCm39)	Y398H	probably benign	Het
Usp1	A	G	4: 98,822,531 (GRCm39)	D615G	probably benign	Het
Utp15	A	G	13: 98,387,420 (GRCm39)	C385R	probably benign	Het
Vmn2r91	T	A	17: 18,356,142 (GRCm39)	V603D	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Yjefn3	A	T	8: 70,341,645 (GRCm39)		probably null	Het
Ywhab	A	T	2: 163,853,807 (GRCm39)	I95F	probably damaging	Het
Zfp143	C	T	7: 109,660,489 (GRCm39)		probably benign	Het
Zfp607b	C	G	7: 27,401,949 (GRCm39)	T135R	possibly damaging	Het
Zfp970	A	G	2: 177,166,663 (GRCm39)	Q79R	possibly damaging	Het

Other mutations in Ube3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Ube3a	APN	7	58,921,858 (GRCm39)	missense	probably damaging	1.00
IGL00886:Ube3a	APN	7	58,934,485 (GRCm39)	missense	probably damaging	1.00
IGL02037:Ube3a	APN	7	58,925,506 (GRCm39)	unclassified	probably benign
IGL02127:Ube3a	APN	7	58,925,789 (GRCm39)	missense	probably benign	0.03
IGL02228:Ube3a	APN	7	58,938,144 (GRCm39)	splice site	probably benign
IGL02533:Ube3a	APN	7	58,954,580 (GRCm39)	missense	probably damaging	1.00
IGL02706:Ube3a	APN	7	58,921,881 (GRCm39)	missense	possibly damaging	0.67
IGL03037:Ube3a	APN	7	58,896,971 (GRCm39)	splice site	probably benign
IGL03213:Ube3a	APN	7	58,935,870 (GRCm39)	nonsense	probably null
IGL03306:Ube3a	APN	7	58,935,895 (GRCm39)	missense	probably damaging	1.00
Kebab	UTSW	7	58,938,236 (GRCm39)	missense	probably damaging	1.00
Shawarma	UTSW	7	58,925,931 (GRCm39)	nonsense	probably null
PIT4362001:Ube3a	UTSW	7	58,925,870 (GRCm39)	missense	possibly damaging	0.86
R0847:Ube3a	UTSW	7	58,926,334 (GRCm39)	missense	possibly damaging	0.80
R1765:Ube3a	UTSW	7	58,935,862 (GRCm39)	missense	probably damaging	1.00
R1771:Ube3a	UTSW	7	58,925,714 (GRCm39)	missense	probably damaging	1.00
R1926:Ube3a	UTSW	7	58,926,127 (GRCm39)	missense	probably damaging	1.00
R2026:Ube3a	UTSW	7	58,953,474 (GRCm39)	missense	probably damaging	1.00
R2104:Ube3a	UTSW	7	58,926,225 (GRCm39)	missense	possibly damaging	0.95
R3176:Ube3a	UTSW	7	58,926,267 (GRCm39)	nonsense	probably null
R3276:Ube3a	UTSW	7	58,926,267 (GRCm39)	nonsense	probably null
R3623:Ube3a	UTSW	7	58,921,860 (GRCm39)	missense	probably damaging	1.00
R3624:Ube3a	UTSW	7	58,921,860 (GRCm39)	missense	probably damaging	1.00
R3690:Ube3a	UTSW	7	58,926,547 (GRCm39)	missense	probably damaging	1.00
R4423:Ube3a	UTSW	7	58,925,861 (GRCm39)	missense	probably benign	0.10
R4583:Ube3a	UTSW	7	58,935,811 (GRCm39)	missense	probably damaging	1.00
R4883:Ube3a	UTSW	7	58,893,198 (GRCm39)	start codon destroyed	probably benign	0.21
R4992:Ube3a	UTSW	7	58,934,568 (GRCm39)	missense	possibly damaging	0.47
R5175:Ube3a	UTSW	7	58,938,465 (GRCm39)	missense	probably damaging	1.00
R5397:Ube3a	UTSW	7	58,936,660 (GRCm39)	missense	probably benign	0.26
R5545:Ube3a	UTSW	7	58,921,772 (GRCm39)	missense	probably damaging	1.00
R5572:Ube3a	UTSW	7	58,938,525 (GRCm39)	missense	probably damaging	1.00
R5635:Ube3a	UTSW	7	58,938,236 (GRCm39)	missense	probably damaging	1.00
R5766:Ube3a	UTSW	7	58,925,807 (GRCm39)	missense	possibly damaging	0.89
R5890:Ube3a	UTSW	7	58,921,776 (GRCm39)	missense	probably damaging	1.00
R5956:Ube3a	UTSW	7	58,926,768 (GRCm39)	unclassified	probably benign
R6388:Ube3a	UTSW	7	58,954,669 (GRCm39)	splice site	probably null
R6464:Ube3a	UTSW	7	58,925,931 (GRCm39)	nonsense	probably null
R6467:Ube3a	UTSW	7	58,926,650 (GRCm39)	missense	probably damaging	1.00
R6474:Ube3a	UTSW	7	58,936,772 (GRCm39)	missense	probably damaging	1.00
R6669:Ube3a	UTSW	7	58,926,605 (GRCm39)	missense	probably benign	0.02
R7003:Ube3a	UTSW	7	58,926,188 (GRCm39)	missense	probably damaging	1.00
R7044:Ube3a	UTSW	7	58,938,161 (GRCm39)	missense	probably damaging	1.00
R7187:Ube3a	UTSW	7	58,925,653 (GRCm39)	missense	probably benign	0.02
R7360:Ube3a	UTSW	7	58,926,383 (GRCm39)	missense	probably damaging	1.00
R7363:Ube3a	UTSW	7	58,936,751 (GRCm39)	missense	probably benign	0.00
R7508:Ube3a	UTSW	7	58,953,437 (GRCm39)	missense	possibly damaging	0.84
R7652:Ube3a	UTSW	7	58,893,102 (GRCm39)	start gained	probably benign
R7768:Ube3a	UTSW	7	58,938,525 (GRCm39)	missense	probably damaging	1.00
R8015:Ube3a	UTSW	7	58,934,504 (GRCm39)	missense	probably damaging	1.00
R8044:Ube3a	UTSW	7	58,926,320 (GRCm39)	missense	possibly damaging	0.51
R8476:Ube3a	UTSW	7	58,954,575 (GRCm39)	missense	probably damaging	1.00
R9394:Ube3a	UTSW	7	58,921,960 (GRCm39)	nonsense	probably null
R9404:Ube3a	UTSW	7	58,936,763 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATTCACTGTGACATTGGCCTTAATG -3'
(R):5'- AACGTCTGTACTTCTGTAAGCTCC -3'

Sequencing Primer
(F):5'- GGCCTTAATGTTGTAGTACTATGATC -3'
(R):5'- CCTCAAATCATGAAGGGAAAATATCC -3'

Posted On

2014-08-25