Incidental Mutation 'R4794:Ube3c'
ID 368841
Institutional Source Beutler Lab
Gene Symbol Ube3c
Ensembl Gene ENSMUSG00000039000
Gene Name ubiquitin protein ligase E3C
Synonyms
MMRRC Submission 042420-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4794 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 29774240-29881075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29802083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 120 (N120S)
Ref Sequence ENSEMBL: ENSMUSP00000045998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049453] [ENSMUST00000199032]
AlphaFold Q80U95
Predicted Effect probably benign
Transcript: ENSMUST00000049453
AA Change: N120S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: N120S

DomainStartEndE-ValueType
IQ 44 66 1.68e-3 SMART
low complexity region 363 376 N/A INTRINSIC
low complexity region 496 514 N/A INTRINSIC
Blast:HECTc 645 701 5e-25 BLAST
HECTc 742 1083 8.54e-178 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197953
Predicted Effect probably benign
Transcript: ENSMUST00000199032
AA Change: N120S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142474
Gene: ENSMUSG00000039000
AA Change: N120S

DomainStartEndE-ValueType
IQ 44 66 8e-6 SMART
low complexity region 363 376 N/A INTRINSIC
low complexity region 496 514 N/A INTRINSIC
Meta Mutation Damage Score 0.0613 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 97% (75/77)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,468,198 (GRCm39) I141K probably damaging Het
Adgrb1 A G 15: 74,459,978 (GRCm39) E537G probably damaging Het
Asic3 C T 5: 24,620,895 (GRCm39) A259V probably damaging Het
Bcar1 G A 8: 112,447,552 (GRCm39) Q142* probably null Het
Bcas3 T C 11: 85,400,294 (GRCm39) V200A probably damaging Het
Cd302 A T 2: 60,102,493 (GRCm39) I42N probably benign Het
Colec12 C A 18: 9,848,984 (GRCm39) N387K probably damaging Het
Copa T A 1: 171,946,888 (GRCm39) I1032N probably damaging Het
D630003M21Rik G C 2: 158,038,059 (GRCm39) T1129S probably benign Het
D630045J12Rik G A 6: 38,171,420 (GRCm39) T916I possibly damaging Het
Dnajb13 C T 7: 100,153,199 (GRCm39) A241T probably damaging Het
Dyrk4 G T 6: 126,862,300 (GRCm39) N397K possibly damaging Het
Eftud2 T A 11: 102,761,003 (GRCm39) Y114F probably benign Het
Elp1 ACTTCTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTCTTC 4: 56,781,176 (GRCm39) probably benign Het
Epm2a A G 10: 11,266,597 (GRCm39) D114G probably benign Het
Exoc5 T C 14: 49,286,357 (GRCm39) probably null Het
Fam135a G A 1: 24,068,241 (GRCm39) T706I probably benign Het
Fasn A G 11: 120,702,121 (GRCm39) V1845A probably benign Het
Fscn3 A G 6: 28,430,595 (GRCm39) E255G probably damaging Het
Galnt7 A T 8: 57,998,397 (GRCm39) Y311N probably damaging Het
Grid1 T C 14: 34,544,579 (GRCm39) L50P probably damaging Het
Hepacam2 A G 6: 3,475,933 (GRCm39) F331L probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif1a T C 1: 92,953,449 (GRCm39) Y1245C probably damaging Het
Ltbp3 T C 19: 5,806,707 (GRCm39) F1022L probably damaging Het
Med16 G T 10: 79,735,951 (GRCm39) T399N probably damaging Het
Mfsd14a A T 3: 116,439,155 (GRCm39) probably benign Het
Myh7b G A 2: 155,465,186 (GRCm39) V681I probably benign Het
Ndc1 A G 4: 107,247,419 (GRCm39) E409G probably benign Het
Necap2 A G 4: 140,798,912 (GRCm39) probably benign Het
Or2a57 T A 6: 43,212,629 (GRCm39) L29H probably damaging Het
Or4p21 A T 2: 88,276,691 (GRCm39) M197K probably benign Het
Or7g29 C T 9: 19,286,841 (GRCm39) S112N probably benign Het
Parp12 G A 6: 39,094,744 (GRCm39) T117I probably benign Het
Pars2 C A 4: 106,511,407 (GRCm39) C396* probably null Het
Prg4 A T 1: 150,330,297 (GRCm39) probably benign Het
Prkg2 G A 5: 99,114,492 (GRCm39) T523I probably damaging Het
Prph T A 15: 98,955,308 (GRCm39) L425Q probably damaging Het
Ranbp9 A G 13: 43,567,552 (GRCm39) Y549H probably damaging Het
Rbm12 A T 2: 155,937,489 (GRCm39) probably benign Het
Reln T C 5: 22,549,183 (GRCm39) Y75C probably damaging Het
Rock2 G A 12: 16,990,408 (GRCm39) R110H probably damaging Het
Samd1 G A 8: 84,726,346 (GRCm39) E468K probably damaging Het
Samd11 T A 4: 156,333,922 (GRCm39) Q173L probably damaging Het
Scgb2b20 C A 7: 33,065,151 (GRCm39) G37V probably damaging Het
Sf1 C A 19: 6,425,694 (GRCm39) probably benign Het
Slc17a5 T A 9: 78,481,997 (GRCm39) H183L probably damaging Het
Slco1a7 A G 6: 141,713,288 (GRCm39) V31A probably benign Het
Smgc T A 15: 91,725,657 (GRCm39) S13T probably benign Het
Snapin A G 3: 90,398,092 (GRCm39) probably benign Het
Spata31e4 C G 13: 50,857,275 (GRCm39) P971R probably benign Het
Ssc5d C T 7: 4,946,744 (GRCm39) P1033S probably benign Het
Strn3 T C 12: 51,696,954 (GRCm39) E259G probably benign Het
Tbc1d32 A G 10: 56,072,932 (GRCm39) F238L possibly damaging Het
Tbck G A 3: 132,392,729 (GRCm39) V57M possibly damaging Het
Tgm3 A G 2: 129,883,875 (GRCm39) D511G probably benign Het
Tlr5 T C 1: 182,801,461 (GRCm39) V241A probably benign Het
Tmem181c-ps A G 17: 6,887,754 (GRCm39) noncoding transcript Het
Tnfrsf1a G A 6: 125,335,047 (GRCm39) C168Y probably damaging Het
Tph2 G T 10: 115,018,675 (GRCm39) L79I possibly damaging Het
Tsc1 G A 2: 28,551,702 (GRCm39) probably null Het
Ttc14 A T 3: 33,857,298 (GRCm39) M215L probably benign Het
Ubr2 A T 17: 47,241,371 (GRCm39) W1728R probably damaging Het
Vnn1 A G 10: 23,776,602 (GRCm39) T318A probably benign Het
Washc2 T C 6: 116,235,610 (GRCm39) V941A probably benign Het
Wdfy3 A G 5: 102,091,809 (GRCm39) V510A probably damaging Het
Wdsub1 A T 2: 59,693,188 (GRCm39) V272E possibly damaging Het
Xylt1 A C 7: 117,236,862 (GRCm39) D537A probably benign Het
Zfp57 A G 17: 37,321,022 (GRCm39) N292S possibly damaging Het
Other mutations in Ube3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Ube3c APN 5 29,824,227 (GRCm39) missense probably damaging 1.00
IGL01526:Ube3c APN 5 29,872,960 (GRCm39) missense probably damaging 0.99
IGL01901:Ube3c APN 5 29,873,005 (GRCm39) missense probably damaging 1.00
IGL02029:Ube3c APN 5 29,824,326 (GRCm39) missense probably damaging 1.00
IGL02893:Ube3c APN 5 29,837,761 (GRCm39) missense probably damaging 1.00
IGL03400:Ube3c APN 5 29,806,345 (GRCm39) missense probably benign 0.00
conclusory UTSW 5 29,840,709 (GRCm39) missense probably damaging 1.00
Lord_business UTSW 5 29,842,584 (GRCm39) splice site probably benign
opine UTSW 5 29,803,846 (GRCm39) splice site probably benign
two_cents UTSW 5 29,842,769 (GRCm39) critical splice donor site probably null
BB002:Ube3c UTSW 5 29,851,429 (GRCm39) missense probably damaging 0.96
BB012:Ube3c UTSW 5 29,851,429 (GRCm39) missense probably damaging 0.96
R0067:Ube3c UTSW 5 29,803,936 (GRCm39) missense possibly damaging 0.94
R0067:Ube3c UTSW 5 29,803,936 (GRCm39) missense possibly damaging 0.94
R0099:Ube3c UTSW 5 29,812,062 (GRCm39) missense probably damaging 1.00
R0606:Ube3c UTSW 5 29,795,926 (GRCm39) missense probably damaging 1.00
R0755:Ube3c UTSW 5 29,842,740 (GRCm39) missense probably damaging 1.00
R0900:Ube3c UTSW 5 29,806,344 (GRCm39) missense probably benign 0.00
R1624:Ube3c UTSW 5 29,851,617 (GRCm39) missense probably benign 0.00
R1701:Ube3c UTSW 5 29,806,200 (GRCm39) missense probably benign
R1918:Ube3c UTSW 5 29,792,315 (GRCm39) missense probably damaging 1.00
R1933:Ube3c UTSW 5 29,824,657 (GRCm39) missense probably damaging 0.97
R2072:Ube3c UTSW 5 29,840,638 (GRCm39) missense probably benign 0.02
R2095:Ube3c UTSW 5 29,873,038 (GRCm39) missense probably damaging 1.00
R2122:Ube3c UTSW 5 29,824,604 (GRCm39) missense probably benign 0.14
R2962:Ube3c UTSW 5 29,863,416 (GRCm39) missense possibly damaging 0.81
R3605:Ube3c UTSW 5 29,803,936 (GRCm39) missense possibly damaging 0.94
R3606:Ube3c UTSW 5 29,803,936 (GRCm39) missense possibly damaging 0.94
R3764:Ube3c UTSW 5 29,842,584 (GRCm39) splice site probably benign
R3940:Ube3c UTSW 5 29,824,358 (GRCm39) missense probably benign 0.31
R4776:Ube3c UTSW 5 29,837,836 (GRCm39) critical splice donor site probably null
R4924:Ube3c UTSW 5 29,836,269 (GRCm39) missense possibly damaging 0.56
R5059:Ube3c UTSW 5 29,836,293 (GRCm39) missense probably null 0.11
R5068:Ube3c UTSW 5 29,806,352 (GRCm39) critical splice donor site probably null
R5140:Ube3c UTSW 5 29,840,709 (GRCm39) missense probably damaging 1.00
R5849:Ube3c UTSW 5 29,863,407 (GRCm39) missense probably damaging 1.00
R5890:Ube3c UTSW 5 29,863,290 (GRCm39) missense possibly damaging 0.77
R5956:Ube3c UTSW 5 29,804,054 (GRCm39) intron probably benign
R6035:Ube3c UTSW 5 29,806,161 (GRCm39) missense probably benign 0.00
R6035:Ube3c UTSW 5 29,806,161 (GRCm39) missense probably benign 0.00
R6264:Ube3c UTSW 5 29,795,829 (GRCm39) missense probably damaging 1.00
R6354:Ube3c UTSW 5 29,868,581 (GRCm39) missense probably damaging 0.99
R6658:Ube3c UTSW 5 29,807,215 (GRCm39) missense probably damaging 1.00
R6877:Ube3c UTSW 5 29,792,316 (GRCm39) missense probably benign 0.22
R7660:Ube3c UTSW 5 29,824,629 (GRCm39) missense probably damaging 0.98
R7925:Ube3c UTSW 5 29,851,429 (GRCm39) missense probably damaging 0.96
R8153:Ube3c UTSW 5 29,811,929 (GRCm39) missense possibly damaging 0.88
R8334:Ube3c UTSW 5 29,795,882 (GRCm39) missense probably benign 0.00
R8774:Ube3c UTSW 5 29,812,029 (GRCm39) missense probably benign 0.09
R8774-TAIL:Ube3c UTSW 5 29,812,029 (GRCm39) missense probably benign 0.09
R8941:Ube3c UTSW 5 29,842,769 (GRCm39) critical splice donor site probably null
R9293:Ube3c UTSW 5 29,803,846 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- CTGGTAGATTACTTCCTTTTGCATG -3'
(R):5'- ACCATAGGCTAGAGGACAGC -3'

Sequencing Primer
(F):5'- GTCTTGCTAAGAATATCTTGAC -3'
(R):5'- CTGGGGTTCAGTTCCAAGTATACAC -3'
Posted On 2016-02-04