Mutagenetix > Incidental Mutation

Incidental Mutation 'R4583:Ube3a'

343828

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

041804-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R4583 (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 58935811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 565 (T565I)

Ref Sequence

ENSEMBL: ENSMUSP00000143962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107537] [ENSMUST00000200758] [ENSMUST00000202945]

AlphaFold

O08759

Predicted Effect

probably damaging
Transcript: ENSMUST00000107537
AA Change: T565I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326
AA Change: T565I

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

probably damaging
Transcript: ENSMUST00000200758
AA Change: T586I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326
AA Change: T586I

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: ENSMUST00000200949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202207

Predicted Effect

probably benign
Transcript: ENSMUST00000202247

Predicted Effect

probably benign
Transcript: ENSMUST00000202288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202776

Predicted Effect

probably damaging
Transcript: ENSMUST00000202945
AA Change: T565I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143962
Gene: ENSMUSG00000025326
AA Change: T565I

Domain	Start	End	E-Value	Type
Pfam:AZUL	6	60	4.4e-21	PFAM
Blast:HECTc	87	148	2e-20	BLAST
low complexity region	149	186	N/A	INTRINSIC
Blast:HECTc	338	459	1e-12	BLAST
HECTc	519	762	7.07e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207816

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,274,017 (GRCm39)	L86P	unknown	Het
Aimp1	C	T	3: 132,382,808 (GRCm39)	E23K	probably damaging	Het
Ap2b1	A	T	11: 83,288,605 (GRCm39)	N884I	probably benign	Het
Apoe	G	T	7: 19,431,423 (GRCm39)	Q65K	possibly damaging	Het
Arhgef1	T	A	7: 24,611,996 (GRCm39)	D93E	probably benign	Het
Arhgef12	G	T	9: 42,888,958 (GRCm39)	T1085K	probably damaging	Het
Arid5a	T	C	1: 36,356,745 (GRCm39)		probably null	Het
Atp9a	A	T	2: 168,531,280 (GRCm39)		probably null	Het
Baz1a	T	C	12: 54,969,325 (GRCm39)	I635V	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Cckar	T	A	5: 53,857,124 (GRCm39)	M429L	probably benign	Het
Ccl3	A	T	11: 83,539,164 (GRCm39)	L65Q	probably benign	Het
Ccr3	A	G	9: 123,829,477 (GRCm39)	T271A	probably benign	Het
Cd8b1	T	A	6: 71,303,081 (GRCm39)	I52N	probably damaging	Het
Cdh15	G	A	8: 123,591,767 (GRCm39)	E551K	probably damaging	Het
Cdh17	A	G	4: 11,810,466 (GRCm39)	K719R	probably benign	Het
Cfap43	T	C	19: 47,825,655 (GRCm39)	R38G	probably null	Het
Chd6	T	C	2: 160,856,114 (GRCm39)	E715G	probably damaging	Het
Cldn34b2	T	A	X: 153,908,625 (GRCm39)	R68*	probably null	Het
Col19a1	T	G	1: 24,600,410 (GRCm39)	D44A	unknown	Het
Colgalt2	C	T	1: 152,382,627 (GRCm39)	S493F	probably damaging	Het
Cr1l	T	C	1: 194,812,139 (GRCm39)	I99M	probably damaging	Het
Crybg1	T	C	10: 43,873,616 (GRCm39)	E1164G	probably damaging	Het
Cym	G	T	3: 107,118,718 (GRCm39)	D367E	probably damaging	Het
Dennd2a	G	T	6: 39,499,776 (GRCm39)	T263K	probably damaging	Het
Dhx9	T	A	1: 153,336,049 (GRCm39)	M869L	probably damaging	Het
Dnm2	A	G	9: 21,415,742 (GRCm39)	H692R	probably damaging	Het
Ern1	A	T	11: 106,298,031 (GRCm39)	S697T	probably damaging	Het
F12	G	A	13: 55,568,943 (GRCm39)	T273I	probably benign	Het
Fam151b	A	T	13: 92,604,617 (GRCm39)	L124Q	probably damaging	Het
Fancg	A	G	4: 43,002,991 (GRCm39)	V622A	probably benign	Het
Fbxo2	T	A	4: 148,249,356 (GRCm39)	N159K	possibly damaging	Het
Fgd2	C	A	17: 29,586,052 (GRCm39)	T212K	possibly damaging	Het
Fhl3	T	A	4: 124,601,342 (GRCm39)	D178E	probably benign	Het
Filip1	G	T	9: 79,723,091 (GRCm39)	A1176D	possibly damaging	Het
Fndc1	T	C	17: 7,958,081 (GRCm39)	Y1722C	probably damaging	Het
Frem3	T	C	8: 81,340,143 (GRCm39)	V812A	probably benign	Het
Fsip2	A	G	2: 82,809,017 (GRCm39)	I1779V	probably benign	Het
Gli2	C	T	1: 118,769,798 (GRCm39)	V585I	probably benign	Het
Gm15056	C	G	8: 21,390,697 (GRCm39)	S80T	probably benign	Het
Gm5145	A	G	17: 20,790,715 (GRCm39)	E31G	probably benign	Het
Gmfg	A	G	7: 28,145,369 (GRCm39)	Y71C	probably damaging	Het
Grk1	A	G	8: 13,459,322 (GRCm39)	E291G	probably damaging	Het
Gtpbp1	A	G	15: 79,600,152 (GRCm39)	E393G	possibly damaging	Het
Gtpbp2	A	G	17: 46,472,071 (GRCm39)	D2G	probably damaging	Het
Hc	A	T	2: 34,918,189 (GRCm39)	V698E	probably benign	Het
Helz	G	A	11: 107,536,895 (GRCm39)	R249H	probably damaging	Het
Hmcn2	A	G	2: 31,303,277 (GRCm39)	I2973V	possibly damaging	Het
Hnrnpa3	A	G	2: 75,493,950 (GRCm39)	R286G	probably benign	Het
Hus1b	A	T	13: 31,131,501 (GRCm39)	W53R	probably damaging	Het
Hydin	C	T	8: 111,321,857 (GRCm39)	T4503I	probably benign	Het
Ighmbp2	G	C	19: 3,315,324 (GRCm39)	P699A	probably benign	Het
Igkv1-122	A	T	6: 67,994,442 (GRCm39)	Y110F	probably benign	Het
Igkv8-28	T	C	6: 70,120,604 (GRCm39)	Y113C	probably damaging	Het
Iigp1c	T	C	18: 60,379,152 (GRCm39)	I229T	possibly damaging	Het
Il16	A	G	7: 83,332,107 (GRCm39)	S158P	probably damaging	Het
Kalrn	T	A	16: 34,055,637 (GRCm39)	H876L	probably damaging	Het
Kdm5d	T	A	Y: 914,134 (GRCm39)	L357H	probably damaging	Het
Krt78	T	C	15: 101,855,055 (GRCm39)	T919A	possibly damaging	Het
L3mbtl2	T	C	15: 81,569,107 (GRCm39)	C594R	probably damaging	Het
Lcorl	A	T	5: 45,890,931 (GRCm39)	L474*	probably null	Het
Lgals3	A	T	14: 47,619,144 (GRCm39)		probably null	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Lpcat3	T	G	6: 124,680,286 (GRCm39)	W429G	possibly damaging	Het
Lrp1	T	C	10: 127,377,241 (GRCm39)	T4149A	probably benign	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Mical2	A	G	7: 112,012,154 (GRCm39)	N668S	probably benign	Het
Ms4a10	A	T	19: 10,945,553 (GRCm39)	I76N	possibly damaging	Het
Mthfr	T	G	4: 148,136,329 (GRCm39)	L362V	possibly damaging	Het
Myh3	T	A	11: 66,987,279 (GRCm39)	Y1376*	probably null	Het
Mymk	C	A	2: 26,952,292 (GRCm39)	V192F	probably benign	Het
Myo1c	A	G	11: 75,562,688 (GRCm39)	D966G	possibly damaging	Het
Ncam2	A	G	16: 81,314,445 (GRCm39)	N474D	probably damaging	Het
Nmnat1	T	C	4: 149,553,608 (GRCm39)	N168S	possibly damaging	Het
Nmur1	C	T	1: 86,314,367 (GRCm39)	V323M	possibly damaging	Het
Npr2	C	A	4: 43,633,522 (GRCm39)		probably null	Het
Nsd3	T	A	8: 26,200,703 (GRCm39)	M1265K	probably benign	Het
Or13c7	A	G	4: 43,855,262 (GRCm39)	T318A	probably benign	Het
Or1e34	T	C	11: 73,778,629 (GRCm39)	T190A	probably damaging	Het
Or1j16	A	C	2: 36,530,626 (GRCm39)	T192P	probably damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or4c11	G	T	2: 88,695,838 (GRCm39)	M296I	probably benign	Het
Or5b108	T	A	19: 13,168,062 (GRCm39)	F10L	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Or6c216	T	C	10: 129,678,344 (GRCm39)	D189G	probably damaging	Het
Otub1	G	A	19: 7,181,801 (GRCm39)	A25V	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Patl2	A	G	2: 121,957,226 (GRCm39)	S103P	probably benign	Het
Pcdhb15	A	T	18: 37,608,628 (GRCm39)	H620L	possibly damaging	Het
Pdgfc	A	T	3: 81,048,835 (GRCm39)	D81V	possibly damaging	Het
Pdia2	T	C	17: 26,415,476 (GRCm39)	D447G	probably damaging	Het
Pold1	C	A	7: 44,188,337 (GRCm39)	A514S	probably damaging	Het
Pomgnt1	C	T	4: 116,015,691 (GRCm39)	T552I	probably benign	Het
Ppl	T	C	16: 4,922,400 (GRCm39)	E294G	probably benign	Het
Pramel12	A	G	4: 143,143,324 (GRCm39)	Y30C	probably damaging	Het
Prkcb	A	G	7: 122,056,447 (GRCm39)	S100G	probably benign	Het
Psg16	T	G	7: 16,829,097 (GRCm39)	I227S	probably benign	Het
Rbbp6	AAAGAAGAAGAAGAAGAAG	AAAGAAGAAGAAGAAG	7: 122,601,175 (GRCm39)		probably benign	Het
Reck	T	C	4: 43,931,062 (GRCm39)		probably null	Het
Rrbp1	C	T	2: 143,830,671 (GRCm39)	G499S	probably benign	Het
Sema6d	G	T	2: 124,506,082 (GRCm39)	R630L	probably damaging	Het
Slc29a1	A	G	17: 45,900,882 (GRCm39)	V94A	possibly damaging	Het
Slc35a1	T	A	4: 34,664,146 (GRCm39)	Q324L	probably benign	Het
Slc35c1	A	T	2: 92,289,266 (GRCm39)	L80Q	probably damaging	Het
Slc7a10	G	T	7: 34,897,377 (GRCm39)		probably null	Het
Srrm2	C	T	17: 24,038,593 (GRCm39)		probably benign	Het
Stk38	T	G	17: 29,201,130 (GRCm39)	D182A	probably damaging	Het
Tas2r104	C	T	6: 131,662,398 (GRCm39)	G104S	probably benign	Het
Tmem121b	T	C	6: 120,469,055 (GRCm39)	E554G	probably damaging	Het
Tor1aip2	A	G	1: 155,940,888 (GRCm39)	H398R	probably benign	Het
Tram2	C	T	1: 21,083,673 (GRCm39)	V83I	probably benign	Het
Ubr4	T	C	4: 139,108,164 (GRCm39)	V56A	possibly damaging	Het
Vmn1r128	T	C	7: 21,083,644 (GRCm39)	V116A	possibly damaging	Het
Vmn1r170	C	T	7: 23,306,087 (GRCm39)	T163I	probably benign	Het
Vmn2r75	T	A	7: 85,813,290 (GRCm39)	D504V	possibly damaging	Het
Vps36	G	A	8: 22,708,436 (GRCm39)	M363I	probably benign	Het
Wdsub1	A	G	2: 59,708,661 (GRCm39)	S71P	probably damaging	Het
Zdhhc12	A	G	2: 29,981,496 (GRCm39)	F189L	probably benign	Het
Zfp521	T	C	18: 13,977,387 (GRCm39)	M1009V	probably benign	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
R1992:Ube3a	UTSW	7	58,953,535 (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
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'- GATCATGTGAAGCTGAAAGATCAC -3'
(R):5'- AACTTACTGGGTGAGAGTCTCC -3'

Sequencing Primer
(F):5'- taGCTTAGATTTGATAT -3'
(R):5'- TGAGAGTCTCCCAAGTCACG -3'

Posted On

2015-09-24