Incidental Mutation 'R4992:Ube3a'
ID 386255
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 042586-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R4992 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 58878498-58961284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58934568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 560 (D560E)
Ref Sequence ENSEMBL: ENSMUSP00000143962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107537] [ENSMUST00000200758] [ENSMUST00000202945]
AlphaFold O08759
Predicted Effect possibly damaging
Transcript: ENSMUST00000107537
AA Change: D560E

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326
AA Change: D560E

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: ENSMUST00000200758
AA Change: D581E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326
AA Change: D581E

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: 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 possibly damaging
Transcript: ENSMUST00000202945
AA Change: D560E

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143962
Gene: ENSMUSG00000025326
AA Change: D560E

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 noncoding transcript
Transcript: ENSMUST00000207816
Meta Mutation Damage Score 0.1233 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (84/86)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G A 15: 81,948,203 (GRCm39) R700Q possibly damaging Het
4930444P10Rik T A 1: 16,151,101 (GRCm39) E27V probably damaging Het
Acsm4 T A 7: 119,310,640 (GRCm39) I509N probably benign Het
Asb18 T C 1: 89,880,585 (GRCm39) M143V probably benign Het
Birc6 A G 17: 74,996,251 (GRCm39) D4475G probably benign Het
Bsn A T 9: 107,992,747 (GRCm39) S1002T probably damaging Het
Bub3 T C 7: 131,162,535 (GRCm39) S33P probably damaging Het
Ccna1 T A 3: 54,957,311 (GRCm39) R35S probably damaging Het
Cdc23 T A 18: 34,779,972 (GRCm39) M119L probably benign Het
Ces1a A G 8: 93,771,650 (GRCm39) V49A probably benign Het
Chi3l1 A T 1: 134,116,364 (GRCm39) E282D probably benign Het
Crocc G A 4: 140,773,977 (GRCm39) A220V probably damaging Het
Cstf1 A G 2: 172,219,720 (GRCm39) Y277C probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dennd5a A G 7: 109,493,919 (GRCm39) S1262P probably damaging Het
Dnajb5 G A 4: 42,953,386 (GRCm39) probably null Het
E330034G19Rik A G 14: 24,357,064 (GRCm39) K200R unknown Het
Ect2l A G 10: 18,048,477 (GRCm39) F156S probably benign Het
Egf T C 3: 129,505,179 (GRCm39) probably null Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Elmo3 T A 8: 106,036,133 (GRCm39) Y607* probably null Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Ephb2 A G 4: 136,388,150 (GRCm39) V651A probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Gcn1 T C 5: 115,737,225 (GRCm39) V1321A probably benign Het
Gimd1 A T 3: 132,340,718 (GRCm39) Y78F probably benign Het
Glmn T G 5: 107,705,167 (GRCm39) D483A probably damaging Het
Gsr C T 8: 34,183,941 (GRCm39) T401I probably damaging Het
Htr3b G A 9: 48,870,518 (GRCm39) H62Y possibly damaging Het
Ifna6 T C 4: 88,745,777 (GRCm39) V42A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Inpp4b A T 8: 82,759,837 (GRCm39) R627S probably damaging Het
Kif13a C T 13: 46,930,639 (GRCm39) V142M probably damaging Het
Lims1 A C 10: 58,246,063 (GRCm39) probably benign Het
Ltn1 T C 16: 87,202,475 (GRCm39) T1059A possibly damaging Het
Lyst T C 13: 13,835,748 (GRCm39) L1810P probably damaging Het
Mboat1 T G 13: 30,386,343 (GRCm39) I119R possibly damaging Het
Mgat3 T A 15: 80,096,743 (GRCm39) D523E probably benign Het
Mphosph9 T C 5: 124,442,253 (GRCm39) E395G probably damaging Het
Mtcl1 G T 17: 66,649,834 (GRCm39) P1877Q probably damaging Het
Myo6 T C 9: 80,190,792 (GRCm39) V781A possibly damaging Het
Ncoa3 T A 2: 165,911,859 (GRCm39) M1395K probably benign Het
Nhlrc2 T A 19: 56,558,966 (GRCm39) D150E probably benign Het
Nlrp9a T C 7: 26,256,811 (GRCm39) V54A probably benign Het
Or1e32 G A 11: 73,705,146 (GRCm39) T254I probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Parp14 A T 16: 35,661,512 (GRCm39) C1479S probably benign Het
Pdcd1lg2 T C 19: 29,423,484 (GRCm39) V176A probably damaging Het
Pibf1 T A 14: 99,388,103 (GRCm39) N416K probably damaging Het
Pip4p1 A G 14: 51,166,690 (GRCm39) V179A probably damaging Het
Polb A T 8: 23,135,087 (GRCm39) V115E probably damaging Het
Polq T A 16: 36,881,524 (GRCm39) N1229K possibly damaging Het
Ppp1r21 A T 17: 88,876,508 (GRCm39) D440V probably benign Het
Ppp2ca T A 11: 52,004,033 (GRCm39) H63Q possibly damaging Het
Prl7a1 C T 13: 27,819,669 (GRCm39) probably null Het
Rgs1 C A 1: 144,122,060 (GRCm39) K77N probably damaging Het
Rnf112 T A 11: 61,343,537 (GRCm39) I100F possibly damaging Het
Rnf139 G T 15: 58,770,325 (GRCm39) E117* probably null Het
Robo1 G A 16: 72,776,756 (GRCm39) V743I probably damaging Het
Scarf1 T C 11: 75,413,056 (GRCm39) L434P probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Sgsm1 A T 5: 113,430,486 (GRCm39) S300T possibly damaging Het
Slc26a7 T G 4: 14,565,508 (GRCm39) T192P probably damaging Het
Smarcc2 A G 10: 128,310,579 (GRCm39) K403E probably damaging Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Sptlc3 G A 2: 139,437,923 (GRCm39) V406I probably benign Het
Tgds A C 14: 118,355,175 (GRCm39) Y197D probably damaging Het
Tll1 G T 8: 64,546,978 (GRCm39) R323S probably damaging Het
Trim14 A G 4: 46,507,110 (GRCm39) Y369H probably damaging Het
Ube2nl C T 7: 61,199,112 (GRCm39) noncoding transcript Het
Vmn2r10 A G 5: 109,145,592 (GRCm39) V505A possibly damaging Het
Vmn2r114 T G 17: 23,510,765 (GRCm39) I572L probably benign Het
Vmn2r26 A T 6: 124,003,070 (GRCm39) Q160L probably benign Het
Vmn2r75 A C 7: 85,815,375 (GRCm39) probably null Het
Vps8 A G 16: 21,280,158 (GRCm39) K336E possibly damaging Het
Zfp324 T C 7: 12,703,300 (GRCm39) S32P probably benign Het
Zfp366 T C 13: 99,366,003 (GRCm39) I388T possibly damaging Het
Zfp68 A T 5: 138,605,599 (GRCm39) N203K possibly damaging Het
Zhx2 A T 15: 57,686,983 (GRCm39) N784I 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
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
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
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'- CACAGTACATACTCTTGTGTGTTG -3'
(R):5'- AACCTATGATTCTCATGACTTCAGG -3'

Sequencing Primer
(F):5'- CTTGTGTGTTGAAATAAATCTTGCC -3'
(R):5'- GACTTCAGGTTTTCAAATCTACCAC -3'
Posted On 2016-05-10