Incidental Mutation 'IGL01448:Anapc7'
ID84491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anapc7
Ensembl Gene ENSMUSG00000029466
Gene Nameanaphase promoting complex subunit 7
SynonymsAPC7, prediabetic NOD sera-reactive autoantigen
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL01448
Quality Score
Status
Chromosome5
Chromosomal Location122421693-122444912 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 122428213 bp
ZygosityHeterozygous
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]
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: 130,405,847 E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,633 probably benign Het
2610303G11Rik T A 9: 98,186,709 noncoding transcript Het
4931414P19Rik T C 14: 54,585,960 D320G possibly damaging Het
Adamts6 G A 13: 104,297,164 E34K probably damaging Het
Alms1 T A 6: 85,677,899 N3142K possibly damaging Het
Atp8b3 G A 10: 80,520,422 P1152L probably benign Het
Cc2d2a C T 5: 43,684,185 T181I possibly damaging Het
Celsr2 A G 3: 108,393,239 L2835P probably damaging Het
Ctns A T 11: 73,188,722 V99D possibly damaging Het
Dchs1 T C 7: 105,771,927 R429G probably damaging Het
Ddx11 T C 17: 66,134,137 V218A probably damaging Het
Eftud2 G A 11: 102,865,563 probably benign Het
Erich1 G T 8: 14,078,853 T29N possibly damaging Het
Exosc8 T C 3: 54,729,265 E215G probably damaging Het
Fam184a G T 10: 53,698,949 A188E probably benign Het
Fign A G 2: 63,979,688 S413P probably damaging Het
Fkbp6 A G 5: 135,349,696 S33P probably damaging Het
Glb1 A G 9: 114,450,677 probably benign Het
H2-Q1 T C 17: 35,323,461 probably benign Het
Helz2 T C 2: 181,233,977 T1575A probably damaging Het
Il18r1 A G 1: 40,474,730 E32G probably damaging Het
Ints5 C T 19: 8,895,487 P270L possibly damaging Het
Itga7 G T 10: 128,949,468 E847* probably null Het
Kcns3 A C 12: 11,091,643 S352A possibly damaging Het
Kiz A G 2: 146,863,801 K94E probably benign Het
Lin7b C T 7: 45,369,200 V12M probably damaging Het
Myo18b A T 5: 112,811,704 I1409N probably damaging Het
Myo5b A G 18: 74,644,090 H407R probably damaging Het
Nelfa T C 5: 33,898,802 T506A probably damaging Het
Olfr497 T A 7: 108,423,028 Y152* probably null Het
Olfr763 A G 10: 129,011,860 T192A probably damaging Het
Olfr816 A G 10: 129,912,245 I11T possibly damaging Het
Olfr984 A T 9: 40,101,082 M136K probably damaging Het
Pclo A C 5: 14,676,394 probably benign Het
Pes1 G A 11: 3,977,979 E544K possibly damaging Het
Rabgap1l A G 1: 160,740,745 probably benign Het
Rapgef2 C T 3: 79,103,962 probably null Het
Rapgef2 T C 3: 79,068,937 M1521V probably benign Het
Reln A G 5: 22,040,405 V735A probably benign Het
Slc2a4 A G 11: 69,945,076 S316P possibly damaging Het
Smarce1 C T 11: 99,210,187 G373E possibly damaging Het
Spata31d1a T A 13: 59,701,559 R918S probably benign Het
St3gal4 T C 9: 35,052,331 K227R probably benign Het
Stra6l T A 4: 45,864,864 probably null Het
Stxbp5l T C 16: 37,215,979 I425V probably damaging Het
Tcaf2 T C 6: 42,630,328 T231A probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tnks A G 8: 34,839,982 Y1138H probably damaging Het
Vezt T A 10: 93,996,857 I231F probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zbed3 A G 13: 95,336,634 K189E possibly damaging Het
Zfp512b T C 2: 181,587,785 T625A possibly damaging Het
Zfp827 A T 8: 79,060,733 Q176L possibly damaging Het
Other mutations in Anapc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Anapc7 APN 5 122433477 nonsense probably null
IGL01434:Anapc7 APN 5 122438216 missense probably benign 0.45
IGL01862:Anapc7 APN 5 122440119 missense probably benign
IGL03040:Anapc7 APN 5 122433387 nonsense probably null
IGL03268:Anapc7 APN 5 122429606 critical splice donor site probably null
R0603:Anapc7 UTSW 5 122440170 missense probably benign 0.40
R1497:Anapc7 UTSW 5 122435515 splice site probably benign
R1889:Anapc7 UTSW 5 122433476 missense probably damaging 1.00
R1990:Anapc7 UTSW 5 122439504 missense probably benign 0.38
R2149:Anapc7 UTSW 5 122443826 missense probably benign 0.41
R2877:Anapc7 UTSW 5 122428156 missense probably benign 0.35
R3835:Anapc7 UTSW 5 122443877 missense possibly damaging 0.83
R4963:Anapc7 UTSW 5 122422606 missense probably damaging 0.97
R5373:Anapc7 UTSW 5 122438217 missense probably benign 0.01
R5374:Anapc7 UTSW 5 122438217 missense probably benign 0.01
R5973:Anapc7 UTSW 5 122428303 missense probably benign
R6911:Anapc7 UTSW 5 122440280 nonsense probably null
R7287:Anapc7 UTSW 5 122433436 missense probably benign 0.08
Posted On2013-11-11