Incidental Mutation 'IGL01862:Anapc7'
ID 178397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anapc7
Ensembl Gene ENSMUSG00000029466
Gene Name anaphase promoting complex subunit 7
Synonyms prediabetic NOD sera-reactive autoantigen, APC7
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL01862
Quality Score
Status
Chromosome 5
Chromosomal Location 122559756-122582975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122578182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 389 (I389N)
Ref Sequence ENSEMBL: ENSMUSP00000113928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031422] [ENSMUST00000119792] [ENSMUST00000122010]
AlphaFold Q9WVM3
Predicted Effect probably benign
Transcript: ENSMUST00000031422
AA Change: I389N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031422
Gene: ENSMUSG00000029466
AA Change: I389N

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
TPR 135 168 7.11e1 SMART
TPR 237 270 1.29e1 SMART
TPR 339 372 2.22e-2 SMART
TPR 475 508 4.09e-1 SMART
low complexity region 530 551 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116022
Predicted Effect probably benign
Transcript: ENSMUST00000119792
AA Change: I389N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112658
Gene: ENSMUSG00000029466
AA Change: I389N

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
TPR 135 168 7.11e1 SMART
TPR 237 270 1.29e1 SMART
TPR 339 372 2.22e-2 SMART
TPR 442 475 5.76e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122010
AA Change: I389N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113928
Gene: ENSMUSG00000029466
AA Change: I389N

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
TPR 135 168 7.11e1 SMART
TPR 237 270 1.29e1 SMART
TPR 339 372 2.22e-2 SMART
TPR 475 508 4.09e-1 SMART
low complexity region 530 551 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148266
Predicted Effect probably benign
Transcript: ENSMUST00000154074
SMART Domains Protein: ENSMUSP00000123365
Gene: ENSMUSG00000029466

DomainStartEndE-ValueType
Blast:TPR 2 28 2e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197993
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,837,997 (GRCm39) S1085* probably null Het
Akap9 T G 5: 4,001,705 (GRCm39) S94A probably damaging Het
Akap9 T A 5: 4,115,856 (GRCm39) N3425K probably damaging Het
Aqp7 G A 4: 41,045,321 (GRCm39) R20* probably null Het
Cacna1h C T 17: 25,602,457 (GRCm39) G1524R probably damaging Het
Cacng4 T C 11: 107,685,196 (GRCm39) Y32C probably damaging Het
Cep120 A C 18: 53,847,839 (GRCm39) S673R probably benign Het
Cep162 T C 9: 87,135,986 (GRCm39) E19G possibly damaging Het
Cpxm2 C T 7: 131,661,540 (GRCm39) V416I probably benign Het
Dapk1 A G 13: 60,874,424 (GRCm39) T427A probably benign Het
Ecm1 A T 3: 95,641,586 (GRCm39) D549E probably benign Het
Efemp1 T A 11: 28,871,428 (GRCm39) N342K probably damaging Het
Erc2 T C 14: 27,993,526 (GRCm39) probably benign Het
Fhip2b C T 14: 70,825,130 (GRCm39) R402H probably benign Het
Galnt13 T C 2: 54,747,926 (GRCm39) V269A probably damaging Het
Gm6465 T G 5: 11,899,020 (GRCm39) L171R probably damaging Het
Gpatch1 A G 7: 34,994,703 (GRCm39) V521A probably benign Het
Heatr5b A T 17: 79,103,914 (GRCm39) V1087E possibly damaging Het
Ikzf2 A T 1: 69,578,057 (GRCm39) V484D probably damaging Het
Ints4 T A 7: 97,190,360 (GRCm39) V953E probably damaging Het
Iqce T C 5: 140,685,480 (GRCm39) D15G possibly damaging Het
Kif3a T A 11: 53,461,368 (GRCm39) N4K possibly damaging Het
Lrch4 A T 5: 137,635,271 (GRCm39) I254F probably damaging Het
Ly75 A T 2: 60,129,516 (GRCm39) V1623D probably damaging Het
Mapt T A 11: 104,180,828 (GRCm39) probably benign Het
Mast1 A T 8: 85,639,875 (GRCm39) probably null Het
Mcc G T 18: 44,892,363 (GRCm39) Q84K probably benign Het
Mgat4f G A 1: 134,318,349 (GRCm39) V374I probably benign Het
Mtfr2 G A 10: 20,224,149 (GRCm39) V28M probably benign Het
Myh8 T A 11: 67,180,520 (GRCm39) Y585* probably null Het
Napsa T C 7: 44,231,917 (GRCm39) V202A probably damaging Het
Nsd2 A G 5: 34,001,080 (GRCm39) K199R probably null Het
Ntpcr C T 8: 126,462,837 (GRCm39) A18V probably benign Het
Or2aj4 A T 16: 19,385,426 (GRCm39) M69K probably damaging Het
Or2g25 G T 17: 37,970,368 (GRCm39) N285K probably damaging Het
Or56b35 T A 7: 104,963,439 (GRCm39) I76N probably damaging Het
Or5g9 G T 2: 85,552,472 (GRCm39) C241F probably damaging Het
Or8b9 A G 9: 37,766,477 (GRCm39) D121G probably damaging Het
Os9 A G 10: 126,935,573 (GRCm39) V299A probably benign Het
Pcdhb7 T C 18: 37,476,915 (GRCm39) S684P possibly damaging Het
Phf19 A C 2: 34,787,067 (GRCm39) probably null Het
Pkd1l3 G A 8: 110,357,908 (GRCm39) probably null Het
Pkhd1 A G 1: 20,429,134 (GRCm39) I2422T probably damaging Het
Plxna2 T A 1: 194,326,258 (GRCm39) V64E possibly damaging Het
Psme4 T A 11: 30,762,038 (GRCm39) C459* probably null Het
Ptk6 T C 2: 180,841,433 (GRCm39) S159G probably benign Het
Rhd T C 4: 134,617,650 (GRCm39) I329T possibly damaging Het
Scfd1 A G 12: 51,492,494 (GRCm39) Y601C probably damaging Het
Shroom3 T C 5: 93,110,148 (GRCm39) S1753P probably damaging Het
Slc8a1 A C 17: 81,749,630 (GRCm39) probably null Het
Spg7 T A 8: 123,803,669 (GRCm39) L233Q probably damaging Het
Strip1 C A 3: 107,529,198 (GRCm39) R353L probably damaging Het
Ubr1 T C 2: 120,764,823 (GRCm39) N544D possibly damaging Het
Ubr4 A G 4: 139,204,469 (GRCm39) T4794A possibly damaging Het
Usp24 A G 4: 106,266,095 (GRCm39) probably benign Het
Vmn1r193 A T 13: 22,403,984 (GRCm39) C3S probably benign Het
Yju2b G T 8: 84,987,163 (GRCm39) probably benign Het
Zdhhc5 C T 2: 84,520,836 (GRCm39) R447H probably benign Het
Zfp202 A G 9: 40,123,124 (GRCm39) I629V probably benign Het
Zfp462 T A 4: 55,023,441 (GRCm39) C990S probably damaging Het
Other mutations in Anapc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Anapc7 APN 5 122,571,540 (GRCm39) nonsense probably null
IGL01434:Anapc7 APN 5 122,576,279 (GRCm39) missense probably benign 0.45
IGL01448:Anapc7 APN 5 122,566,276 (GRCm39) missense probably damaging 1.00
IGL03040:Anapc7 APN 5 122,571,450 (GRCm39) nonsense probably null
IGL03268:Anapc7 APN 5 122,567,669 (GRCm39) critical splice donor site probably null
R0603:Anapc7 UTSW 5 122,578,233 (GRCm39) missense probably benign 0.40
R1497:Anapc7 UTSW 5 122,573,578 (GRCm39) splice site probably benign
R1889:Anapc7 UTSW 5 122,571,539 (GRCm39) missense probably damaging 1.00
R1990:Anapc7 UTSW 5 122,577,567 (GRCm39) missense probably benign 0.38
R2149:Anapc7 UTSW 5 122,581,889 (GRCm39) missense probably benign 0.41
R2877:Anapc7 UTSW 5 122,566,219 (GRCm39) missense probably benign 0.35
R3835:Anapc7 UTSW 5 122,581,940 (GRCm39) missense possibly damaging 0.83
R4963:Anapc7 UTSW 5 122,560,669 (GRCm39) missense probably damaging 0.97
R5373:Anapc7 UTSW 5 122,576,280 (GRCm39) missense probably benign 0.01
R5374:Anapc7 UTSW 5 122,576,280 (GRCm39) missense probably benign 0.01
R5973:Anapc7 UTSW 5 122,566,366 (GRCm39) missense probably benign
R6911:Anapc7 UTSW 5 122,578,343 (GRCm39) nonsense probably null
R7287:Anapc7 UTSW 5 122,571,499 (GRCm39) missense probably benign 0.08
R8375:Anapc7 UTSW 5 122,566,342 (GRCm39) missense probably benign 0.05
R8700:Anapc7 UTSW 5 122,560,669 (GRCm39) missense probably damaging 0.97
R8744:Anapc7 UTSW 5 122,566,211 (GRCm39) missense probably benign 0.03
R9634:Anapc7 UTSW 5 122,560,689 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07