Incidental Mutation 'R3605:Ube3c'
ID 269044
Institutional Source Beutler Lab
Gene Symbol Ube3c
Ensembl Gene ENSMUSG00000039000
Gene Name ubiquitin protein ligase E3C
Synonyms
MMRRC Submission 040670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3605 (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 29803936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 180 (T180A)
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: T180A

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: T180A

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 possibly damaging
Transcript: ENSMUST00000199032
AA Change: T180A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142474
Gene: ENSMUSG00000039000
AA Change: T180A

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 0.0836 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 C T 3: 96,589,497 (GRCm39) Q239* probably null Het
Arid4b T C 13: 14,294,826 (GRCm39) V36A probably damaging Het
Art2b T A 7: 101,229,152 (GRCm39) N249I probably benign Het
Bpifb1 T A 2: 154,053,485 (GRCm39) N242K possibly damaging Het
Cd200r1 A G 16: 44,609,939 (GRCm39) T53A possibly damaging Het
Cracr2b C T 7: 141,046,059 (GRCm39) P370S possibly damaging Het
Crb1 T A 1: 139,165,077 (GRCm39) T1016S probably damaging Het
Esrrg A G 1: 187,943,299 (GRCm39) H424R possibly damaging Het
Fgfrl1 C A 5: 108,853,289 (GRCm39) T213K probably damaging Het
Flrt3 T A 2: 140,503,287 (GRCm39) N114Y probably damaging Het
Fsip2 T C 2: 82,815,253 (GRCm39) V3662A probably benign Het
Gabra6 T A 11: 42,205,777 (GRCm39) I359F probably benign Het
Gal A G 19: 3,464,026 (GRCm39) probably null Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm5814 G T 17: 47,721,430 (GRCm39) R48L probably damaging Het
Hcn1 G A 13: 118,111,788 (GRCm39) G584D unknown Het
Iqgap1 T C 7: 80,373,537 (GRCm39) D1484G probably benign Het
Kmt2a G A 9: 44,760,493 (GRCm39) T485M probably damaging Het
Kprp C A 3: 92,731,588 (GRCm39) Q487H unknown Het
Lctl T C 9: 64,040,475 (GRCm39) Y473H probably damaging Het
Lrrc8d G A 5: 105,974,873 (GRCm39) C93Y unknown Het
Mnt T A 11: 74,727,746 (GRCm39) S211T possibly damaging Het
Mtdh T A 15: 34,114,258 (GRCm39) probably benign Het
Nxt1 T C 2: 148,517,399 (GRCm39) W47R probably damaging Het
Or4f59 T A 2: 111,873,168 (GRCm39) I70F probably benign Het
Or5k3 T C 16: 58,969,846 (GRCm39) I211T probably damaging Het
Plekha7 T C 7: 115,763,477 (GRCm39) D313G possibly damaging Het
Ranbp10 A G 8: 106,502,667 (GRCm39) S300P probably benign Het
Rbl1 A T 2: 157,019,153 (GRCm39) F531I probably damaging Het
Rpap2 A G 5: 107,768,395 (GRCm39) D411G probably damaging Het
Sapcd1 A G 17: 35,246,781 (GRCm39) F36L probably damaging Het
Svep1 A T 4: 58,066,542 (GRCm39) S3181T probably benign Het
Tgfbr2 G A 9: 115,938,960 (GRCm39) T314I probably benign Het
Thbs4 G T 13: 92,894,467 (GRCm39) C685* probably null Het
Tk2 A G 8: 104,957,803 (GRCm39) V181A possibly damaging Het
Traf2 T C 2: 25,420,427 (GRCm39) T141A probably benign Het
Ttn C T 2: 76,661,788 (GRCm39) probably null Het
Yif1b C T 7: 28,937,835 (GRCm39) A7V possibly damaging Het
Zfp738 A T 13: 67,819,508 (GRCm39) L151* probably null 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
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'- AGCCCTGCCTATTTTCAGAGAC -3'
(R):5'- AGGCACACAGCTTCTATTCTG -3'

Sequencing Primer
(F):5'- ATTTTCAGAGACCCTGGCAG -3'
(R):5'- GCACACAGCTTCTATTCTGATGATTG -3'
Posted On 2015-02-19