Incidental Mutation 'R9404:Ube3a'
ID 711404
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R9404 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 58878498-58961284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58936763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 701 (T701A)
Ref Sequence ENSEMBL: ENSMUSP00000143859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107537] [ENSMUST00000200758] [ENSMUST00000202945]
AlphaFold O08759
Predicted Effect probably damaging
Transcript: ENSMUST00000107537
AA Change: T680A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326
AA Change: T680A

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 damaging
Transcript: ENSMUST00000200758
AA Change: T701A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326
AA Change: T701A

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: ENSMUST00000202247
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000202945
AA Change: T680A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143962
Gene: ENSMUSG00000025326
AA Change: T680A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 T C 4: 106,615,509 (GRCm39) K314R possibly damaging Het
Armt1 AC A 10: 4,400,848 (GRCm39) probably null Het
Atad5 T C 11: 80,005,064 (GRCm39) V1167A probably damaging Het
Bbs12 T C 3: 37,373,557 (GRCm39) S2P probably damaging Het
Cdh11 A T 8: 103,406,254 (GRCm39) L73Q probably damaging Het
Cdk15 A G 1: 59,328,914 (GRCm39) E274G possibly damaging Het
Col27a1 T C 4: 63,194,178 (GRCm39) V845A possibly damaging Het
Cyp3a11 T C 5: 145,799,258 (GRCm39) T310A probably benign Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Ewsr1 A G 11: 5,022,940 (GRCm39) M388T unknown Het
Fat2 A G 11: 55,144,348 (GRCm39) probably null Het
Gm8225 T A 17: 26,762,034 (GRCm39) I75N probably damaging Het
Gsap A G 5: 21,474,919 (GRCm39) Y526C probably damaging Het
Hk1 T A 10: 62,131,859 (GRCm39) I203F possibly damaging Het
Insl5 T C 4: 102,875,535 (GRCm39) R72G probably benign Het
Iqcb1 T C 16: 36,671,632 (GRCm39) V321A probably damaging Het
Iqcd A C 5: 120,738,601 (GRCm39) T140P Het
Kcnt2 T A 1: 140,353,107 (GRCm39) I272K probably damaging Het
Klhl25 A C 7: 75,515,153 (GRCm39) I20L probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrba T C 3: 86,205,224 (GRCm39) V356A probably damaging Het
Mast4 A G 13: 102,887,933 (GRCm39) Y1159H probably damaging Het
Mavs T A 2: 131,083,818 (GRCm39) L105Q probably damaging Het
Megf6 T A 4: 154,348,225 (GRCm39) C902S Het
Mmp17 A G 5: 129,682,741 (GRCm39) D460G possibly damaging Het
Myh2 G T 11: 67,070,454 (GRCm39) A466S probably damaging Het
Neb T C 2: 52,147,788 (GRCm39) N2744D probably damaging Het
Oga CTCGGGTC CTC 19: 45,743,096 (GRCm39) probably null Het
Or13a26 T A 7: 140,284,722 (GRCm39) L186H probably damaging Het
Or2a12 T C 6: 42,904,750 (GRCm39) V195A probably benign Het
Or2aj4 C T 16: 19,384,731 (GRCm39) V301M probably benign Het
Or4a27 T A 2: 88,559,551 (GRCm39) M131L probably benign Het
Or6d13 T G 6: 116,517,708 (GRCm39) I98S probably damaging Het
Or8g55 A T 9: 39,784,708 (GRCm39) I46F possibly damaging Het
Parpbp A G 10: 87,950,411 (GRCm39) V323A possibly damaging Het
Pax5 G A 4: 44,645,565 (GRCm39) P255S possibly damaging Het
Pcdhga2 A G 18: 37,803,067 (GRCm39) T304A probably benign Het
Pcsk1 T G 13: 75,280,342 (GRCm39) S722R probably benign Het
Pcsk9 C A 4: 106,311,723 (GRCm39) R218L probably damaging Het
Pds5a T A 5: 65,776,307 (GRCm39) I96F probably damaging Het
Pkdrej C A 15: 85,703,270 (GRCm39) V889L probably benign Het
Plekhh2 A T 17: 84,878,468 (GRCm39) probably null Het
Pnn A G 12: 59,118,758 (GRCm39) E447G probably damaging Het
Ppp2r3d A G 9: 101,025,840 (GRCm39) L289P probably damaging Het
Ppp6r2 A G 15: 89,152,753 (GRCm39) H298R probably benign Het
Ptpn23 T C 9: 110,216,025 (GRCm39) N1277S Het
Pus10 T A 11: 23,661,202 (GRCm39) F263L possibly damaging Het
Rexo5 A G 7: 119,400,542 (GRCm39) Y109C probably damaging Het
Rnf185 A T 11: 3,382,615 (GRCm39) C23* probably null Het
Runx1 T C 16: 92,485,915 (GRCm39) N140D probably benign Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Scn9a G A 2: 66,357,040 (GRCm39) T1087I probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 TC TCAGCCACGGGGACCAGCCC 7: 126,066,771 (GRCm39) probably benign Het
Slc7a11 T C 3: 50,335,488 (GRCm39) H350R possibly damaging Het
Spaca6 T C 17: 18,057,800 (GRCm39) C155R probably damaging Het
Spire2 C T 8: 124,090,077 (GRCm39) R580* probably null Het
Srgap3 A T 6: 112,706,616 (GRCm39) M851K probably benign Het
Themis A G 10: 28,665,743 (GRCm39) D602G probably benign Het
Tlcd4 T C 3: 121,028,731 (GRCm39) N52S probably benign Het
Trak2 T C 1: 58,960,296 (GRCm39) T236A possibly damaging Het
Trrap T C 5: 144,752,225 (GRCm39) C1709R possibly damaging Het
Ttn A T 2: 76,584,500 (GRCm39) S22203T probably damaging Het
Tut7 A T 13: 59,947,701 (GRCm39) N873K probably benign Het
Ufl1 T C 4: 25,275,912 (GRCm39) I164V probably benign Het
Vcpip1 T C 1: 9,817,856 (GRCm39) T176A probably damaging Het
Virma T A 4: 11,513,626 (GRCm39) D493E probably benign Het
Vmn2r77 T A 7: 86,451,247 (GRCm39) W378R probably benign Het
Vps13b A T 15: 35,876,565 (GRCm39) T2799S probably damaging Het
Vps8 T C 16: 21,426,927 (GRCm39) S1337P probably benign Het
Zfp235 A T 7: 23,839,862 (GRCm39) I94F possibly damaging Het
Zfp3 A G 11: 70,663,366 (GRCm39) K442E probably damaging Het
Zfp418 A T 7: 7,185,104 (GRCm39) I356F possibly damaging Het
Zfp790 G A 7: 29,525,185 (GRCm39) G68S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GACCCATTGCCTGTGACAAC -3'
(R):5'- GGCCCTGTTTCTAGCGTTAC -3'

Sequencing Primer
(F):5'- AGTATTTATTTGGCAACCTCACTTC -3'
(R):5'- GCCCTGTTTCTAGCGTTACATTATAG -3'
Posted On 2022-05-16