Incidental Mutation 'R2443:Anapc13'
ID 249877
Institutional Source Beutler Lab
Gene Symbol Anapc13
Ensembl Gene ENSMUSG00000035048
Gene Name anaphase promoting complex subunit 13
Synonyms 1810004D07Rik
MMRRC Submission 040401-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.666) question?
Stock # R2443 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 102503495-102511443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102511222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 37 (P37S)
Ref Sequence ENSEMBL: ENSMUSP00000140967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038673] [ENSMUST00000186693] [ENSMUST00000188398] [ENSMUST00000190279]
AlphaFold Q8R034
Predicted Effect probably damaging
Transcript: ENSMUST00000038673
AA Change: P37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039761
Gene: ENSMUSG00000035048
AA Change: P37S

DomainStartEndE-ValueType
Pfam:Apc13p 1 74 6.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186693
AA Change: P37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139762
Gene: ENSMUSG00000035048
AA Change: P37S

DomainStartEndE-ValueType
Pfam:Apc13p 1 74 6.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188398
AA Change: P37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140325
Gene: ENSMUSG00000035048
AA Change: P37S

DomainStartEndE-ValueType
Pfam:Apc13p 1 74 6.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190279
AA Change: P37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140967
Gene: ENSMUSG00000035048
AA Change: P37S

DomainStartEndE-ValueType
Pfam:Apc13p 1 74 6.9e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190354
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asxl3 T A 18: 22,544,596 (GRCm39) D39E probably benign Het
Cfap91 A G 16: 38,123,094 (GRCm39) Y645H probably damaging Het
Clec4d G A 6: 123,245,076 (GRCm39) V119M probably benign Het
Dennd11 T C 6: 40,383,710 (GRCm39) D444G probably damaging Het
Dlx2 A G 2: 71,376,349 (GRCm39) S130P probably benign Het
Dync2li1 C A 17: 84,955,093 (GRCm39) Q251K probably benign Het
Edem1 A T 6: 108,828,230 (GRCm39) K518N probably benign Het
Elapor1 A T 3: 108,388,665 (GRCm39) N239K probably damaging Het
Fbln2 T C 6: 91,236,693 (GRCm39) V736A probably damaging Het
Fga A G 3: 82,935,848 (GRCm39) K25R probably benign Het
Hmcn1 C A 1: 150,474,783 (GRCm39) R4701S probably benign Het
Ighv8-5 G A 12: 115,031,440 (GRCm39) P33L probably damaging Het
Kcnip3 T A 2: 127,301,983 (GRCm39) I194F probably damaging Het
Kif26b A C 1: 178,742,579 (GRCm39) I892L probably damaging Het
Krt78 C T 15: 101,855,033 (GRCm39) G926E probably damaging Het
Map1b T C 13: 99,566,919 (GRCm39) Y1934C unknown Het
Masp1 A T 16: 23,295,062 (GRCm39) Y400N probably damaging Het
Methig1 T C 15: 100,251,092 (GRCm39) M1T probably null Het
Mmp19 A G 10: 128,634,725 (GRCm39) E447G possibly damaging Het
Ms4a6d G A 19: 11,567,557 (GRCm39) H115Y possibly damaging Het
Myo1e C T 9: 70,234,454 (GRCm39) S269L probably benign Het
Myo7a G A 7: 97,744,976 (GRCm39) T288I probably benign Het
Npy5r T A 8: 67,133,942 (GRCm39) K284* probably null Het
Oas3 C A 5: 120,915,553 (GRCm39) R46L probably benign Het
Or5l14 A T 2: 87,793,209 (GRCm39) V9E possibly damaging Het
Pkd1l3 T A 8: 110,350,447 (GRCm39) S431T probably benign Het
Pnpla2 T C 7: 141,037,982 (GRCm39) V184A possibly damaging Het
Pomt2 C A 12: 87,180,154 (GRCm39) K282N probably damaging Het
Psmd12 T A 11: 107,386,563 (GRCm39) M378K probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Strn3 A T 12: 51,674,618 (GRCm39) Y389N probably damaging Het
Tdrd1 C T 19: 56,829,786 (GRCm39) A220V probably null Het
Tecpr2 T G 12: 110,862,759 (GRCm39) L57R probably damaging Het
Tkfc A G 19: 10,571,902 (GRCm39) L378P probably damaging Het
Tmprss2 T G 16: 97,369,703 (GRCm39) D357A possibly damaging Het
Tollip C T 7: 141,444,560 (GRCm39) W64* probably null Het
Vcan A G 13: 89,852,794 (GRCm39) F722S probably damaging Het
Vcp A T 4: 42,983,385 (GRCm39) N558K probably damaging Het
Vmn1r232 A G 17: 21,133,646 (GRCm39) I318T probably damaging Het
Vmn1r33 A T 6: 66,588,957 (GRCm39) I199K possibly damaging Het
Zfp61 A G 7: 23,991,194 (GRCm39) V319A probably benign Het
Zfyve28 A G 5: 34,374,238 (GRCm39) V592A possibly damaging Het
Other mutations in Anapc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4785:Anapc13 UTSW 9 102,507,020 (GRCm39) missense probably benign 0.05
R6534:Anapc13 UTSW 9 102,511,292 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTAACTGCAGGACCAGGTC -3'
(R):5'- GCATTTGGCGACAGGAAAC -3'

Sequencing Primer
(F):5'- CAGCTCCTGGGAGGCAAAG -3'
(R):5'- GGCGACAGGAAACATTTTTATCCC -3'
Posted On 2014-11-12