Incidental Mutation 'R4423:Ube3a'
ID 327203
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 041143-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R4423 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 58878498-58961284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58925861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 234 (I234T)
Ref Sequence ENSEMBL: ENSMUSP00000144220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107537] [ENSMUST00000200709] [ENSMUST00000200758] [ENSMUST00000201409] [ENSMUST00000202945] [ENSMUST00000208313] [ENSMUST00000207686] [ENSMUST00000202440]
AlphaFold O08759
Predicted Effect probably benign
Transcript: ENSMUST00000107537
AA Change: I213T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326
AA Change: I213T

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
AA Change: I234T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326
AA Change: I234T

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
AA Change: I234T

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144220
Gene: ENSMUSG00000025326
AA Change: I234T

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 probably benign
Transcript: ENSMUST00000202945
AA Change: I213T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143962
Gene: ENSMUSG00000025326
AA Change: I213T

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: ENSMUST00000208313
Predicted Effect probably benign
Transcript: ENSMUST00000207686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202207
Predicted Effect probably benign
Transcript: ENSMUST00000202440
SMART Domains Protein: ENSMUSP00000143896
Gene: ENSMUSG00000025326

DomainStartEndE-ValueType
Pfam:AZUL 6 50 1.4e-17 PFAM
Meta Mutation Damage Score 0.3702 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C A 10: 100,441,495 (GRCm39) P100Q probably damaging Het
A630010A05Rik A G 16: 14,436,577 (GRCm39) Y210C probably benign Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
Asgr2 G A 11: 69,996,211 (GRCm39) V218I probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfap144 A T 11: 58,687,357 (GRCm39) probably null Het
Cnot10 T A 9: 114,446,988 (GRCm39) I363F probably damaging Het
Coch T A 12: 51,644,932 (GRCm39) probably null Het
Dnah1 C T 14: 31,006,718 (GRCm39) G2199D probably benign Het
Dock9 A G 14: 121,799,465 (GRCm39) probably null Het
Dst T C 1: 34,227,474 (GRCm39) I1689T possibly damaging Het
Eif2ak4 T C 2: 118,269,547 (GRCm39) F762S probably benign Het
Eif2b5 A G 16: 20,320,469 (GRCm39) D195G probably benign Het
Elmo1 C G 13: 20,784,382 (GRCm39) Y646* probably null Het
Far1 T A 7: 113,139,805 (GRCm39) S84R probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Galnt15 A T 14: 31,780,226 (GRCm39) I508F possibly damaging Het
Grik1 T C 16: 87,720,088 (GRCm39) T745A probably benign Het
Hira A G 16: 18,774,952 (GRCm39) D959G possibly damaging Het
Hsf5 T C 11: 87,522,460 (GRCm39) L351P probably damaging Het
Icosl C T 10: 77,907,707 (GRCm39) T89I possibly damaging Het
Iws1 T A 18: 32,216,503 (GRCm39) N414K probably damaging Het
Kif1b A G 4: 149,298,562 (GRCm39) S1035P probably damaging Het
Lcp2 G T 11: 34,028,226 (GRCm39) probably benign Het
Map4 C T 9: 109,896,662 (GRCm39) T631I probably damaging Het
Nepn T A 10: 52,267,911 (GRCm39) I59N probably damaging Het
Nin T A 12: 70,089,752 (GRCm39) K1221M probably damaging Het
Nup155 A G 15: 8,150,948 (GRCm39) T333A probably damaging Het
Or10d4c A G 9: 39,558,412 (GRCm39) Y130C probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Or8b43 A G 9: 38,360,662 (GRCm39) T165A probably benign Het
Plod2 T C 9: 92,484,042 (GRCm39) L502S probably benign Het
Pnpt1 A G 11: 29,103,375 (GRCm39) probably null Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Prkcq T C 2: 11,260,980 (GRCm39) I344T possibly damaging Het
Rbl1 A G 2: 157,010,875 (GRCm39) probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sec62 T C 3: 30,868,431 (GRCm39) M220T unknown Het
Shprh T G 10: 11,062,262 (GRCm39) V1219G possibly damaging Het
Slc25a46 T C 18: 31,742,651 (GRCm39) T72A probably benign Het
Slc4a2 G A 5: 24,644,846 (GRCm39) W1040* probably null Het
Slc5a1 T C 5: 33,312,018 (GRCm39) V470A possibly damaging Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tex47 G T 5: 7,355,364 (GRCm39) A182S probably benign Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Trpm2 T C 10: 77,770,902 (GRCm39) D678G probably benign Het
Tut7 T C 13: 59,969,863 (GRCm39) K11E probably damaging Het
Vmn2r57 T C 7: 41,076,064 (GRCm39) K483E probably damaging Het
Wnk1 T A 6: 119,903,387 (GRCm39) S2111C 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
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'- AGCTTTCGGAAAGTCAAACAGC -3'
(R):5'- GGACTGTGGAGATTACTATTCTCC -3'

Sequencing Primer
(F):5'- CACAAAGGAGGAATTGAAATCTCTTC -3'
(R):5'- CATTCCACGTTAGGTGAC -3'
Posted On 2015-07-07