Mutagenetix > Incidental Mutation

Incidental Mutation 'R1771:Ube3a'

196588

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

039802-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R1771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58878498-58961284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58925714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 164 (E164G)

Ref Sequence

ENSEMBL: ENSMUSP00000143962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107537] [ENSMUST00000200709] [ENSMUST00000200758] [ENSMUST00000201409] [ENSMUST00000202945] [ENSMUST00000208313] [ENSMUST00000207686] [ENSMUST00000202440]

AlphaFold

O08759

Predicted Effect

probably damaging
Transcript: ENSMUST00000107537
AA Change: E164G

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

SMART Domains

Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326
AA Change: E164G

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 benign
Transcript: ENSMUST00000200709

Predicted Effect

probably benign
Transcript: ENSMUST00000200758
AA Change: E185G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326
AA Change: E185G

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: ENSMUST00000200781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200949

Predicted Effect

probably damaging
Transcript: ENSMUST00000201409
AA Change: E185G

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

SMART Domains

Protein: ENSMUSP00000144220
Gene: ENSMUSG00000025326
AA Change: E185G

Domain	Start	End	E-Value	Type
Pfam:AZUL	27	81	3.4e-18	PFAM
Blast:HECTc	108	169	5e-22	BLAST
low complexity region	170	207	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202207

Predicted Effect

probably damaging
Transcript: ENSMUST00000202945
AA Change: E164G

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

SMART Domains

Protein: ENSMUSP00000143962
Gene: ENSMUSG00000025326
AA Change: E164G

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

probably benign
Transcript: ENSMUST00000208313

Predicted Effect

probably benign
Transcript: ENSMUST00000207686

Predicted Effect

probably benign
Transcript: ENSMUST00000202440

SMART Domains

Protein: ENSMUSP00000143896
Gene: ENSMUSG00000025326

Domain	Start	End	E-Value	Type
Pfam:AZUL	6	50	1.4e-17	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,773,061 (GRCm39)	S642P	probably damaging	Het
Adam30	T	C	3: 98,068,835 (GRCm39)	S95P	possibly damaging	Het
Ahnak	G	A	19: 8,991,117 (GRCm39)	V4134I	probably benign	Het
Ankrd13a	T	C	5: 114,941,649 (GRCm39)	V512A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm39)	S149R	probably damaging	Het
Atp2b4	C	A	1: 133,660,131 (GRCm39)	V384L	probably damaging	Het
Atp8a1	A	G	5: 67,805,074 (GRCm39)	W1014R	probably damaging	Het
Cand1	A	C	10: 119,044,211 (GRCm39)	N1054K	probably benign	Het
Car15	A	T	16: 17,654,730 (GRCm39)	V96E	probably damaging	Het
Cd1d1	T	C	3: 86,905,972 (GRCm39)	E101G	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam1	T	A	7: 25,171,469 (GRCm39)	T332S	probably benign	Het
Clca3a2	A	T	3: 144,787,171 (GRCm39)	V500E	probably benign	Het
Cul9	A	T	17: 46,848,738 (GRCm39)	M666K	probably benign	Het
Dennd3	A	G	15: 73,426,950 (GRCm39)	T776A	possibly damaging	Het
Dennd5a	T	C	7: 109,517,893 (GRCm39)	D581G	probably damaging	Het
Dgkh	A	G	14: 78,846,967 (GRCm39)	V371A	probably damaging	Het
Dhcr24	A	G	4: 106,435,450 (GRCm39)	T314A	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Disp2	C	T	2: 118,621,778 (GRCm39)	Q837*	probably null	Het
Dusp3	A	T	11: 101,875,561 (GRCm39)	M1K	probably null	Het
Ecpas	A	G	4: 58,879,100 (GRCm39)	I63T	probably damaging	Het
Eddm13	G	T	7: 6,280,541 (GRCm39)		probably null	Het
Erich3	A	C	3: 154,454,109 (GRCm39)	D625A	possibly damaging	Het
Fat2	G	A	11: 55,201,691 (GRCm39)	S461L	probably benign	Het
Fmn2	A	G	1: 174,436,342 (GRCm39)		probably benign	Het
Foxi1	A	G	11: 34,157,594 (GRCm39)	Y144H	probably damaging	Het
Ftcd	G	A	10: 76,423,202 (GRCm39)	V458M	probably damaging	Het
Gm3604	C	A	13: 62,517,888 (GRCm39)	G157*	probably null	Het
Gnpda1	C	T	18: 38,466,380 (GRCm39)	R79Q	probably benign	Het
Gpr65	T	A	12: 98,242,259 (GRCm39)	I304K	probably damaging	Het
Grem1	T	C	2: 113,580,021 (GRCm39)	E160G	probably benign	Het
Gria2	T	A	3: 80,599,608 (GRCm39)	K759*	probably null	Het
Gsg1l	A	G	7: 125,557,745 (GRCm39)	S128P	probably damaging	Het
Hdac1	A	T	4: 129,415,221 (GRCm39)	I240N	probably damaging	Het
Hic2	C	T	16: 17,076,578 (GRCm39)	T469M	probably benign	Het
Hoxc10	A	C	15: 102,875,522 (GRCm39)	D77A	probably damaging	Het
Itprid1	T	C	6: 55,875,132 (GRCm39)	S361P	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Klk1b24	A	G	7: 43,837,653 (GRCm39)		probably null	Het
Letm1	T	A	5: 33,926,811 (GRCm39)	H162L	probably damaging	Het
Loxl3	A	T	6: 83,026,890 (GRCm39)	Y573F	probably damaging	Het
Macf1	A	T	4: 123,405,901 (GRCm39)	I330N	probably damaging	Het
Mchr1	T	A	15: 81,121,436 (GRCm39)	I62N	probably damaging	Het
Mcm8	C	T	2: 132,685,476 (GRCm39)	Q803*	probably null	Het
Msh3	T	G	13: 92,349,004 (GRCm39)	D1075A	probably benign	Het
Msh6	T	A	17: 88,291,950 (GRCm39)	V235D	probably benign	Het
Mthfd2l	A	T	5: 91,122,254 (GRCm39)	D253V	probably damaging	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Muc20	A	T	16: 32,614,222 (GRCm39)	I385N	probably damaging	Het
Myo6	G	T	9: 80,193,082 (GRCm39)	C829F	probably damaging	Het
Nbea	T	C	3: 55,841,940 (GRCm39)	I1914V	probably benign	Het
Ncor1	T	C	11: 62,217,938 (GRCm39)	E1462G	probably damaging	Het
Necab1	A	G	4: 15,111,267 (GRCm39)	Y54H	probably damaging	Het
Nlrp4b	A	G	7: 10,452,520 (GRCm39)	K15R	probably damaging	Het
Ntrk1	A	G	3: 87,696,937 (GRCm39)	S139P	probably benign	Het
Oas1d	T	C	5: 121,053,900 (GRCm39)	F120S	probably damaging	Het
Ofd1	A	G	X: 165,189,002 (GRCm39)	Y755H	probably benign	Het
Or10al2	A	G	17: 37,983,554 (GRCm39)	I213M	probably damaging	Het
Or13a25	A	G	7: 140,248,048 (GRCm39)	T276A	probably benign	Het
Or4f47	T	G	2: 111,973,065 (GRCm39)	Y258*	probably null	Het
Or5c1	T	A	2: 37,222,430 (GRCm39)	F224I	probably benign	Het
Or5p58	A	C	7: 107,694,816 (GRCm39)		probably null	Het
Or9s27	A	G	1: 92,516,837 (GRCm39)	I262V	probably benign	Het
Plekha6	T	C	1: 133,201,651 (GRCm39)	S355P	probably benign	Het
Prdm14	T	C	1: 13,189,082 (GRCm39)	K421E	probably damaging	Het
Prss36	A	G	7: 127,532,625 (GRCm39)	L731P	probably damaging	Het
Rad51d	A	G	11: 82,774,764 (GRCm39)	L97P	probably damaging	Het
Rbl1	C	A	2: 157,005,454 (GRCm39)		probably null	Het
Rnh1	G	T	7: 140,744,519 (GRCm39)	A52D	possibly damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Ryr2	A	C	13: 11,760,062 (GRCm39)		probably null	Het
Samd4	A	T	14: 47,326,532 (GRCm39)	N454I	probably damaging	Het
Sap130	T	C	18: 31,769,135 (GRCm39)	I32T	probably benign	Het
Sap30l	A	T	11: 57,696,925 (GRCm39)	N85I	probably damaging	Het
Sbf2	G	A	7: 110,060,353 (GRCm39)	Q204*	probably null	Het
Slc45a3	T	C	1: 131,904,694 (GRCm39)	W6R	possibly damaging	Het
Snx16	A	G	3: 10,484,221 (GRCm39)	V334A	probably damaging	Het
Soat1	C	T	1: 156,269,991 (GRCm39)	V143I	probably benign	Het
Sp8	T	A	12: 118,813,302 (GRCm39)	F386I	probably damaging	Het
Spag6	C	T	2: 18,738,928 (GRCm39)	S286L	probably benign	Het
Srpra	A	T	9: 35,124,147 (GRCm39)	N31I	possibly damaging	Het
Ssbp4	A	G	8: 71,051,502 (GRCm39)		probably null	Het
Stxbp2	G	T	8: 3,684,064 (GRCm39)	A124S	probably benign	Het
Tacc2	A	G	7: 130,343,970 (GRCm39)	K700R	probably damaging	Het
Tatdn2	A	T	6: 113,679,060 (GRCm39)		probably null	Het
Tecrl	G	A	5: 83,439,134 (GRCm39)	T226I	probably damaging	Het
Timeless	T	G	10: 128,083,477 (GRCm39)	V702G	probably benign	Het
Tjp1	A	T	7: 64,962,753 (GRCm39)	S1061R	probably benign	Het
Tmem39b	A	T	4: 129,587,011 (GRCm39)	C67S	probably damaging	Het
Tstd3	T	C	4: 21,759,475 (GRCm39)	Y99C	probably damaging	Het
Ttc39c	T	A	18: 12,817,881 (GRCm39)		probably null	Het
Ttll7	C	T	3: 146,600,160 (GRCm39)	P23S	probably benign	Het
Uba5	A	G	9: 103,927,107 (GRCm39)	F290S	probably damaging	Het
Ubap2l	T	C	3: 89,926,538 (GRCm39)	Y623C	probably damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm39)	N38S	probably benign	Het
Ugp2	G	A	11: 21,279,915 (GRCm39)	T283I	probably damaging	Het
Vmn1r55	A	T	7: 5,149,919 (GRCm39)	I168N	probably benign	Het
Wdr27	A	C	17: 15,112,703 (GRCm39)	S668A	probably damaging	Het
Wnt2	T	A	6: 18,008,696 (GRCm39)	N247I	probably damaging	Het
Zfp850	A	T	7: 27,684,700 (GRCm39)	C15*	probably null	Het
Zfp959	A	G	17: 56,204,677 (GRCm39)		probably null	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
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
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'- TTTGTTCAATGAATGCCAAGAAAGGGTG -3'
(R):5'- AAGGGGTAGCTTACACATAGCTTTGC -3'

Sequencing Primer
(F):5'- TGTGATTTACCTAACTGAAGAGAAAG -3'
(R):5'- TCACATTCCACGTTAGGTGACAG -3'

Posted On

2014-05-23