Incidental Mutation 'IGL02037:Ube3a'
ID 184580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube3a
Ensembl Gene ENSMUSG00000025326
Gene Name ubiquitin protein ligase E3A
Synonyms A130086L21Rik, E6-AP ubiquitin protein ligase, 5830462N02Rik, Hpve6a
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # IGL02037
Quality Score
Status
Chromosome 7
Chromosomal Location 58878498-58961284 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 58925506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107537] [ENSMUST00000200709] [ENSMUST00000200758] [ENSMUST00000201409] [ENSMUST00000202945] [ENSMUST00000207686] [ENSMUST00000208313] [ENSMUST00000202440]
AlphaFold O08759
Predicted Effect probably benign
Transcript: ENSMUST00000107537
SMART Domains Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000201409
SMART Domains Protein: ENSMUSP00000144220
Gene: ENSMUSG00000025326

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000202945
SMART Domains Protein: ENSMUSP00000143962
Gene: ENSMUSG00000025326

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000202440
SMART Domains Protein: ENSMUSP00000143896
Gene: ENSMUSG00000025326

DomainStartEndE-ValueType
Pfam:AZUL 6 50 1.4e-17 PFAM
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T A 6: 92,804,997 (GRCm39) probably benign Het
Ace2 T A X: 162,946,996 (GRCm39) V293D probably damaging Het
Adgrg6 T C 10: 14,317,185 (GRCm39) Y545C probably damaging Het
Arhgap40 A G 2: 158,376,742 (GRCm39) T293A probably damaging Het
Arhgef19 A G 4: 140,973,707 (GRCm39) T65A probably damaging Het
Brf1 A G 12: 112,956,682 (GRCm39) probably null Het
Cbfb T C 8: 105,905,252 (GRCm39) S65P possibly damaging Het
Chsy1 T C 7: 65,821,576 (GRCm39) S604P possibly damaging Het
Ckmt1 T C 2: 121,191,643 (GRCm39) V271A probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,371,263 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,038,559 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,007 (GRCm39) T492A probably benign Het
Fam3a G A X: 73,430,241 (GRCm39) T156I probably damaging Het
Fbn2 A T 18: 58,229,087 (GRCm39) C708S probably damaging Het
Fgf5 G A 5: 98,409,831 (GRCm39) G127R probably damaging Het
Fhip1a T G 3: 85,637,939 (GRCm39) K120T probably damaging Het
Fn3k A T 11: 121,325,909 (GRCm39) Y32F probably benign Het
Frem3 T C 8: 81,338,118 (GRCm39) I137T probably benign Het
Hc T C 2: 34,903,531 (GRCm39) D1041G probably benign Het
Heatr6 T A 11: 83,655,708 (GRCm39) probably benign Het
Hivep1 G A 13: 42,309,553 (GRCm39) A598T probably benign Het
Ifngr1 T C 10: 19,483,007 (GRCm39) S254P probably benign Het
Kel T C 6: 41,674,408 (GRCm39) S341G probably benign Het
Klra6 A C 6: 129,990,439 (GRCm39) M224R probably benign Het
Mis18bp1 A G 12: 65,183,522 (GRCm39) probably null Het
Mpeg1 C T 19: 12,440,660 (GRCm39) T706I probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Or5al7 G T 2: 85,993,181 (GRCm39) F37L probably benign Het
Palld T C 8: 61,978,148 (GRCm39) R881G probably damaging Het
Pdha2 A T 3: 140,916,662 (GRCm39) V282E probably damaging Het
Pga5 C T 19: 10,654,065 (GRCm39) R46Q probably benign Het
Plekhg2 T C 7: 28,068,122 (GRCm39) Y189C probably damaging Het
Rnf43 A G 11: 87,622,479 (GRCm39) T527A probably benign Het
Rplp0 G A 5: 115,699,174 (GRCm39) R73Q probably benign Het
Smco3 A G 6: 136,808,197 (GRCm39) *226R probably null Het
Sugp2 T C 8: 70,712,324 (GRCm39) probably benign Het
Tsga10 T C 1: 37,846,098 (GRCm39) I343V probably benign Het
Ube2q2 A G 9: 55,075,502 (GRCm39) K104E probably damaging Het
Usp11 T C X: 20,585,381 (GRCm39) I785T probably damaging Het
Vmn2r22 A T 6: 123,626,026 (GRCm39) C137S probably damaging Het
Zfp281 T C 1: 136,555,185 (GRCm39) V721A possibly damaging Het
Zfp946 T C 17: 22,672,469 (GRCm39) S23P probably damaging Het
Zfyve1 A G 12: 83,594,694 (GRCm39) V766A probably damaging Het
Other mutations in Ube3a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-05-07