Incidental Mutation 'R1933:Ube3c'
ID 215548
Institutional Source Beutler Lab
Gene Symbol Ube3c
Ensembl Gene ENSMUSG00000039000
Gene Name ubiquitin protein ligase E3C
Synonyms
MMRRC Submission 039951-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1933 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 29774240-29881075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29824657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 561 (Y561H)
Ref Sequence ENSEMBL: ENSMUSP00000142474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049453] [ENSMUST00000199032]
AlphaFold Q80U95
Predicted Effect possibly damaging
Transcript: ENSMUST00000049453
AA Change: Y561H

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: Y561H

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 probably damaging
Transcript: ENSMUST00000199032
AA Change: Y561H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142474
Gene: ENSMUSG00000039000
AA Change: Y561H

DomainStartEndE-ValueType
IQ 44 66 8e-6 SMART
low complexity region 363 376 N/A INTRINSIC
low complexity region 496 514 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adra2a T A 19: 54,034,837 (GRCm39) F64L probably damaging Het
Ankrd45 A T 1: 160,978,870 (GRCm39) N103I probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Bsn A G 9: 107,993,643 (GRCm39) V703A possibly damaging Het
Btaf1 T A 19: 36,950,357 (GRCm39) I529K probably damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Ccdc78 T A 17: 26,006,044 (GRCm39) S71T probably damaging Het
Cct5 G T 15: 31,591,154 (GRCm39) Q516K probably benign Het
Cd300c2 A T 11: 114,891,685 (GRCm39) V63E probably benign Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Clec16a T C 16: 10,506,403 (GRCm39) F710L probably damaging Het
Clpb T G 7: 101,428,418 (GRCm39) F393V probably damaging Het
Commd9 G A 2: 101,731,376 (GRCm39) R187H probably damaging Het
Crx T A 7: 15,602,301 (GRCm39) K126* probably null Het
Dcaf13 T A 15: 39,001,483 (GRCm39) Y264N probably damaging Het
Dnah12 T A 14: 26,455,650 (GRCm39) I791N probably damaging Het
Dpy19l1 A T 9: 24,345,683 (GRCm39) D456E probably damaging Het
Dscam A G 16: 96,394,414 (GRCm39) S1963P probably benign Het
Efl1 C T 7: 82,412,325 (GRCm39) Q905* probably null Het
Farsa T C 8: 85,587,780 (GRCm39) F104L probably benign Het
Fbxl19 C A 7: 127,350,101 (GRCm39) A231E probably benign Het
Fbxw19 A T 9: 109,310,718 (GRCm39) N401K probably benign Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Frem3 A G 8: 81,339,519 (GRCm39) N604S probably benign Het
Gad1 T G 2: 70,417,736 (GRCm39) C312G possibly damaging Het
Garem2 G T 5: 30,319,860 (GRCm39) E441* probably null Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm8206 A T 14: 6,022,475 (GRCm38) M8K probably benign Het
Gpr162 G A 6: 124,838,410 (GRCm39) S80F probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Il21 C T 3: 37,286,635 (GRCm39) R27H probably benign Het
Il21r C T 7: 125,228,153 (GRCm39) T208I possibly damaging Het
Kcnab2 T C 4: 152,520,323 (GRCm39) T6A possibly damaging Het
Klra4 T A 6: 130,042,207 (GRCm39) Q20L possibly damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Lrrtm3 A G 10: 63,924,292 (GRCm39) F292L possibly damaging Het
Mpeg1 A T 19: 12,440,011 (GRCm39) K490* probably null Het
Myh14 C T 7: 44,264,772 (GRCm39) M1671I probably benign Het
Nebl A T 2: 17,380,103 (GRCm39) M757K probably damaging Het
Or51m1 G T 7: 103,578,337 (GRCm39) M102I probably damaging Het
Or56b1b A C 7: 108,164,730 (GRCm39) F91V possibly damaging Het
Or5aq1 T A 2: 86,966,188 (GRCm39) H159L probably damaging Het
Pkhd1l1 A T 15: 44,404,280 (GRCm39) H2303L possibly damaging Het
Podxl2 C T 6: 88,826,587 (GRCm39) V240M probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prss53 T C 7: 127,485,434 (GRCm39) *553W probably null Het
Psma3 T A 12: 71,031,468 (GRCm39) M43K probably benign Het
Rad50 G T 11: 53,570,888 (GRCm39) T790K probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Scn10a T A 9: 119,439,064 (GRCm39) M1601L probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Serpinb5 A G 1: 106,803,851 (GRCm39) E8G probably damaging Het
Sgcg C T 14: 61,469,861 (GRCm39) V167I possibly damaging Het
Slc25a13 C T 6: 6,109,262 (GRCm39) V367M probably damaging Het
Spata31 T C 13: 65,068,424 (GRCm39) S191P probably benign Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Srgap1 G T 10: 121,761,808 (GRCm39) D113E possibly damaging Het
Srl A G 16: 4,310,214 (GRCm39) I505T probably damaging Het
St14 G A 9: 31,017,508 (GRCm39) T226I probably benign Het
Stard9 T A 2: 120,529,137 (GRCm39) I1798N possibly damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Susd1 A T 4: 59,351,695 (GRCm39) N455K possibly damaging Het
Sytl3 T A 17: 7,000,445 (GRCm39) V205E probably damaging Het
Tenm4 A G 7: 96,544,533 (GRCm39) Y2183C probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tlcd3b T A 7: 126,426,844 (GRCm39) probably null Het
Tlr1 T G 5: 65,082,781 (GRCm39) T599P possibly damaging Het
Trpc6 G A 9: 8,656,546 (GRCm39) D658N probably damaging Het
Ttc39b A G 4: 83,150,957 (GRCm39) V546A possibly damaging Het
Vmn1r29 T A 6: 58,284,405 (GRCm39) S42T probably benign Het
Vps4a T C 8: 107,771,190 (GRCm39) V392A probably benign Het
Wdfy4 T C 14: 32,855,301 (GRCm39) E771G probably benign Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null Het
Wnt5a C T 14: 28,233,802 (GRCm39) P10L probably benign Het
Zfhx2 T C 14: 55,312,695 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,903 (GRCm39) K132R probably 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
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
R4794:Ube3c UTSW 5 29,802,083 (GRCm39) missense probably benign 0.06
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'- GGCCTATCAGCTTTTAAGGGTAATTG -3'
(R):5'- AACCAAGTCTGCGCTGGATAC -3'

Sequencing Primer
(F):5'- TAATTGAAAGGCTCTCGAGGACCC -3'
(R):5'- TGGATACATTCTGACATGCCAC -3'
Posted On 2014-07-14