Incidental Mutation 'IGL00823:Anapc7'
ID8847
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: 0.956) question?
Stock #IGL00823
Quality Score
Status
Chromosome5
Chromosomal Location122421693-122444912 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 122433477 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 205 (W205*)
Ref Sequence ENSEMBL: ENSMUSP00000113928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031422] [ENSMUST00000119792] [ENSMUST00000122010]
Predicted Effect probably null
Transcript: ENSMUST00000031422
AA Change: W205*
SMART Domains Protein: ENSMUSP00000031422
Gene: ENSMUSG00000029466
AA Change: W205*

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 null
Transcript: ENSMUST00000119792
AA Change: W205*
SMART Domains Protein: ENSMUSP00000112658
Gene: ENSMUSG00000029466
AA Change: W205*

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 null
Transcript: ENSMUST00000122010
AA Change: W205*
SMART Domains Protein: ENSMUSP00000113928
Gene: ENSMUSG00000029466
AA Change: W205*

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,878,534 probably benign Het
Adam5 T C 8: 24,818,742 E39G probably benign Het
Arhgap5 C T 12: 52,518,742 T832I possibly damaging Het
Arhgef10 T A 8: 14,940,378 probably benign Het
Atg5 A G 10: 44,363,044 T274A probably benign Het
Baiap2l2 G T 15: 79,284,565 probably benign Het
Brap T A 5: 121,665,227 M146K probably damaging Het
Brpf1 T C 6: 113,321,886 S1074P probably benign Het
Camta1 A C 4: 151,084,601 I231R probably benign Het
Ccdc15 C T 9: 37,320,413 G205D probably benign Het
Cd6 G T 19: 10,796,394 probably benign Het
Cdh17 T G 4: 11,783,412 S219R possibly damaging Het
Cgn G A 3: 94,767,209 R873W probably damaging Het
Ctnna3 C T 10: 63,537,543 P41L possibly damaging Het
Dmbt1 T C 7: 131,058,158 W484R probably benign Het
Dmd A G X: 84,425,813 probably null Het
Dnah17 C T 11: 118,047,161 V3347I probably benign Het
Fam122b A T X: 53,245,331 C222S probably damaging Het
Fgd5 T A 6: 91,988,459 S400T possibly damaging Het
Kitl C A 10: 100,087,344 probably benign Het
Lamc3 A T 2: 31,918,521 D763V probably damaging Het
Lgmn T C 12: 102,398,176 probably benign Het
Lpcat2 T G 8: 92,864,970 W81G possibly damaging Het
Myh13 A G 11: 67,355,947 I1165V probably benign Het
Nf1 A G 11: 79,565,517 D599G probably damaging Het
Nin T C 12: 70,014,793 N2099S probably benign Het
Nlrc4 T C 17: 74,447,990 D77G probably benign Het
Otub1 A G 19: 7,204,051 probably benign Het
Pah A G 10: 87,570,331 Y174C probably null Het
Papd4 T C 13: 93,186,397 T15A probably benign Het
Rbbp5 G A 1: 132,489,706 V88I probably damaging Het
Scn1a C T 2: 66,324,935 R560H probably benign Het
Snx5 T C 2: 144,255,565 I217V probably benign Het
Syne2 T C 12: 75,989,242 S3769P probably damaging Het
Tmem255b T C 8: 13,457,054 M261T probably benign Het
Top3b T C 16: 16,887,622 I417T probably damaging Het
Tspan2 T C 3: 102,758,233 probably null Het
Ttn T C 2: 76,709,713 T34310A possibly damaging Het
Ush2a G A 1: 188,911,443 C4334Y possibly damaging Het
Wdpcp A G 11: 21,659,995 D21G probably damaging Het
Yy2 A C X: 157,568,211 D186E probably benign Het
Other mutations in Anapc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Anapc7 APN 5 122438216 missense probably benign 0.45
IGL01448:Anapc7 APN 5 122428213 missense probably damaging 1.00
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
R8375:Anapc7 UTSW 5 122428279 missense probably benign 0.05
Posted On2012-12-06