Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Ube3a'

554623

Institutional Source

Beutler Lab

Gene Symbol

Ube3a

Ensembl Gene

ENSMUSG00000025326

Gene Name

ubiquitin protein ligase E3A

Synonyms

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

PIT4362001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59228750-59311536 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59276122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 237 (V237A)

Ref Sequence

ENSEMBL: ENSMUSP00000143859 (fasta)

Gene Model

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

AlphaFold

O08759

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107537
AA Change: V216A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326
AA Change: V216A

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

possibly damaging
Transcript: ENSMUST00000200758
AA Change: V237A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326
AA Change: V237A

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

possibly damaging
Transcript: ENSMUST00000201409
AA Change: V237A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144220
Gene: ENSMUSG00000025326
AA Change: V237A

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

probably benign
Transcript: ENSMUST00000202440

SMART Domains

Protein: ENSMUSP00000143896
Gene: ENSMUSG00000025326

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202945
AA Change: V216A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143962
Gene: ENSMUSG00000025326
AA Change: V216A

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: ENSMUST00000207686

Predicted Effect

probably benign
Transcript: ENSMUST00000208313

Coding Region Coverage

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,064,424	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,079,100	V165A	probably damaging	Het
Aox2	A	T	1: 58,282,680	T44S	probably damaging	Het
Arhgap29	T	A	3: 122,003,212	N482K	probably benign	Het
Arhgef38	T	A	3: 133,160,830	D182V		Het
Atad5	C	T	11: 80,111,567	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,885,256	S147P	possibly damaging	Het
Cblb	T	A	16: 52,139,542	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,621,025	N97S	probably benign	Het
Cdh23	A	G	10: 60,465,458	V479A	probably benign	Het
Chuk	A	G	19: 44,098,583		probably null	Het
Cmtr2	G	A	8: 110,222,336	G426D	probably damaging	Het
Cog4	G	A	8: 110,866,672	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472	L193*	probably null	Het
Cxcr6	A	T	9: 123,810,461	I183F	probably benign	Het
Dbf4	A	G	5: 8,403,664	F253L	probably benign	Het
Dcaf8	T	C	1: 172,172,797	V174A	probably damaging	Het
Ddhd2	T	C	8: 25,735,752	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,763,565	V33A	probably benign	Het
Egfl7	C	T	2: 26,591,040	P188L	probably benign	Het
Ephb3	A	G	16: 21,220,857	E707G	probably damaging	Het
Epn3	C	T	11: 94,496,523	R7H	probably damaging	Het
Fam198b	C	A	3: 79,886,939	S238Y	possibly damaging	Het
Fbp1	T	A	13: 62,867,380	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,918,688	R177*	probably null	Het
Gbp5	T	C	3: 142,500,710	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,773,981	S282T	probably benign	Het
Glg1	A	T	8: 111,258,799	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,377,175	L736F	probably benign	Het
Gm5565	A	T	5: 146,158,299	S212R	probably benign	Het
Grin2c	T	C	11: 115,249,633	T1220A	probably benign	Het
Grp	T	G	18: 65,886,226	S133A	probably benign	Het
Gstp2	C	A	19: 4,040,713	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,791,408	F84L	probably damaging	Het
Inppl1	T	C	7: 101,826,013	R944G	probably benign	Het
Lama2	A	T	10: 27,369,136	N216K	probably damaging	Het
Lrp2	T	A	2: 69,537,538	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,962,540	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 103,071,194	I1555T	probably benign	Het
Map2	G	A	1: 66,412,518	G189D	probably benign	Het
Mdc1	A	G	17: 35,844,469	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,797,768	D152G	possibly damaging	Het
Med23	A	G	10: 24,874,571	M99V	probably benign	Het
Mutyh	G	A	4: 116,817,070	V273M	probably damaging	Het
Neurod2	T	A	11: 98,327,882	Y152F	probably damaging	Het
Olfr1002	A	C	2: 85,647,724	L199R	probably damaging	Het
Olfr1177-ps	C	T	2: 88,344,013	A247T	probably benign	Het
Olfr898	G	T	9: 38,349,198	L32F	probably benign	Het
Pcdh20	G	C	14: 88,467,026	P946R	probably damaging	Het
Pde6b	T	C	5: 108,423,585		probably null	Het
Pdzrn4	A	T	15: 92,769,881	D638V	possibly damaging	Het
Polr1b	A	G	2: 129,109,292	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,360,317	D127V	probably damaging	Het
Rspo4	T	A	2: 151,867,883	C69*	probably null	Het
Scara3	T	C	14: 65,936,402	T63A	probably benign	Het
Scn2a	G	A	2: 65,683,838	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,377,549	T163A	probably benign	Het
Slc2a10	T	A	2: 165,516,293	F446Y	probably damaging	Het
Snapc1	C	T	12: 73,982,495	R351C	probably damaging	Het
Snx6	A	G	12: 54,768,030	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,861,435	C1996*	probably null	Het
Steap4	A	G	5: 7,980,337	T398A	probably benign	Het
Tep1	A	T	14: 50,866,053	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,464	V70D	possibly damaging	Het
Ttn	G	A	2: 76,739,018	A27177V	probably damaging	Het
Vil1	G	A	1: 74,421,383	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,393,929	T716A	probably benign	Het
Zbp1	A	G	2: 173,216,990	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524	V1845A	probably benign	Het
Zfp407	A	T	18: 84,561,268	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,925,815	T626A	probably benign	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
IGL02533:Ube3a	APN	7	59304832	missense	probably damaging	1.00
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
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	splice site	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
R8015:Ube3a	UTSW	7	59284756	missense	probably damaging	1.00
R8044:Ube3a	UTSW	7	59276572	missense	possibly damaging	0.51
R8476:Ube3a	UTSW	7	59304827	missense	probably damaging	1.00
R9394:Ube3a	UTSW	7	59272212	nonsense	probably null
R9404:Ube3a	UTSW	7	59287015	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTTCGGAAAGTCAAACAGC -3'
(R):5'- TCCAGATATTCAGGACTGTGGAG -3'

Sequencing Primer
(F):5'- CACAAAGGAGGAATTGAAATCTCTTC -3'
(R):5'- CAGGACTGTGGAGATTACTATTCTCC -3'

Posted On

2019-06-07