Incidental Mutation 'IGL01448:Anapc7'
ID 84491
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 # IGL01448
Quality Score
Status
Chromosome 5
Chromosomal Location 122559756-122582975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122566276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 62 (A62T)
Ref Sequence ENSEMBL: ENSMUSP00000112658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031422] [ENSMUST00000119792] [ENSMUST00000122010]
AlphaFold Q9WVM3
Predicted Effect probably damaging
Transcript: ENSMUST00000031422
AA Change: A62T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031422
Gene: ENSMUSG00000029466
AA Change: A62T

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 probably damaging
Transcript: ENSMUST00000119792
AA Change: A62T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112658
Gene: ENSMUSG00000029466
AA Change: A62T

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 damaging
Transcript: ENSMUST00000122010
AA Change: A62T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113928
Gene: ENSMUSG00000029466
AA Change: A62T

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly 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
IGL01862:Anapc7 APN 5 122,578,182 (GRCm39) missense probably benign
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 2013-11-11