Incidental Mutation 'IGL01575:Anapc2'
ID91238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anapc2
Ensembl Gene ENSMUSG00000026965
Gene Nameanaphase promoting complex subunit 2
SynonymsEmi4, 9230107K09Rik, Imi4, expressed during mesenchymal induction 4, APC2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01575
Quality Score
Status
Chromosome2
Chromosomal Location25272478-25285915 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 25285176 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028337] [ENSMUST00000028340] [ENSMUST00000028341]
Predicted Effect probably benign
Transcript: ENSMUST00000028337
SMART Domains Protein: ENSMUSP00000028337
Gene: ENSMUSG00000026961

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LRRNT 42 75 1.86e0 SMART
LRR 72 93 7.57e0 SMART
LRR 95 117 6.96e0 SMART
LRR_TYP 118 141 1e-5 SMART
LRR 142 165 6.22e0 SMART
LRR 166 189 2.86e-1 SMART
LRRCT 201 254 3.01e-5 SMART
transmembrane domain 267 289 N/A INTRINSIC
low complexity region 293 308 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000028340
SMART Domains Protein: ENSMUSP00000028340
Gene: ENSMUSG00000026963

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:TMEM210 32 144 1.1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028341
SMART Domains Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 123 133 N/A INTRINSIC
low complexity region 153 164 N/A INTRINSIC
low complexity region 221 229 N/A INTRINSIC
low complexity region 456 467 N/A INTRINSIC
CULLIN 515 663 6.72e-9 SMART
APC2 772 832 3.67e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144102
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle by ubiquitinating its specific substrates, such as mitotic cyclins and anaphase inhibitor, for subsequent degradation by the proteasome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality before E6.5. Conditional ablation in the liver results in liver failure and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b G A 11: 43,172,721 R161H probably benign Het
Boll A G 1: 55,323,648 probably null Het
Cngb1 G A 8: 95,264,520 P226S possibly damaging Het
Commd3 G A 2: 18,674,717 probably null Het
Ddx46 C T 13: 55,654,183 probably benign Het
Dmrtb1 A G 4: 107,684,068 I32T probably benign Het
Dnah7a T C 1: 53,427,820 probably benign Het
Dppa5a A G 9: 78,367,780 I80T possibly damaging Het
Galntl6 T C 8: 58,427,676 probably benign Het
Gm9803 T C 10: 43,524,415 V55A probably benign Het
Hmgcr A G 13: 96,656,595 Y510H possibly damaging Het
Idua G T 5: 108,682,107 R505L possibly damaging Het
Ifna15 A G 4: 88,557,807 F147L probably damaging Het
Itga4 T C 2: 79,288,255 S433P probably damaging Het
Kcnc1 T C 7: 46,428,099 Y442H possibly damaging Het
Kmt2d A G 15: 98,846,855 probably benign Het
Mpp7 A G 18: 7,403,365 probably benign Het
Olfr292 T C 7: 86,695,293 V279A probably benign Het
Olfr488 A C 7: 108,255,535 V201G possibly damaging Het
Olfr790 A G 10: 129,501,567 I228V probably benign Het
Phf14 T C 6: 11,990,051 L693S probably damaging Het
Pkd1 A G 17: 24,573,128 N1263S probably damaging Het
Rhbdl1 G T 17: 25,836,138 A32E possibly damaging Het
Samd9l A G 6: 3,376,734 S176P possibly damaging Het
Scn1a G T 2: 66,273,236 F1893L probably damaging Het
Serpina3f C A 12: 104,218,440 P281Q probably damaging Het
Slc35a1 G T 4: 34,668,932 Q294K probably benign Het
Sspo G A 6: 48,459,042 S1154N probably benign Het
Tdrd6 A G 17: 43,627,980 S726P probably benign Het
Tiam2 A T 17: 3,454,316 E24V probably damaging Het
Tmf1 T C 6: 97,175,936 E392G probably damaging Het
Tns2 T C 15: 102,113,191 V1089A probably damaging Het
Tspyl1 C A 10: 34,283,090 N270K probably damaging Het
Usp32 A T 11: 85,022,802 V901D probably damaging Het
Vldlr A G 19: 27,246,631 I764V probably benign Het
Wnk2 A G 13: 49,146,676 V186A probably damaging Het
Zdhhc18 A G 4: 133,613,899 V221A probably damaging Het
Other mutations in Anapc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Anapc2 APN 2 25274782 missense possibly damaging 0.65
IGL01993:Anapc2 APN 2 25274713 missense probably benign 0.00
IGL02586:Anapc2 APN 2 25285096 missense probably benign 0.08
IGL02721:Anapc2 APN 2 25274668 nonsense probably null
FR4976:Anapc2 UTSW 2 25272532 unclassified probably benign
R0415:Anapc2 UTSW 2 25278325 missense probably damaging 1.00
R1539:Anapc2 UTSW 2 25273063 missense probably benign
R1675:Anapc2 UTSW 2 25272639 missense possibly damaging 0.88
R1720:Anapc2 UTSW 2 25274712 missense probably benign 0.13
R2150:Anapc2 UTSW 2 25272670 missense probably benign 0.27
R2173:Anapc2 UTSW 2 25273276 missense probably benign 0.01
R4028:Anapc2 UTSW 2 25277738 missense probably damaging 1.00
R4254:Anapc2 UTSW 2 25273345 missense probably benign 0.08
R4643:Anapc2 UTSW 2 25276394 missense probably benign
R4742:Anapc2 UTSW 2 25273543 splice site probably null
R4824:Anapc2 UTSW 2 25277752 missense probably damaging 1.00
R5039:Anapc2 UTSW 2 25274796 missense possibly damaging 0.70
R5530:Anapc2 UTSW 2 25284583 missense possibly damaging 0.81
R6456:Anapc2 UTSW 2 25280195 missense probably damaging 1.00
R6479:Anapc2 UTSW 2 25285395 missense probably benign 0.04
R6587:Anapc2 UTSW 2 25272538 unclassified probably benign
R7164:Anapc2 UTSW 2 25284999 missense probably damaging 1.00
R7494:Anapc2 UTSW 2 25276364 missense possibly damaging 0.95
R7829:Anapc2 UTSW 2 25277741 missense probably damaging 1.00
RF042:Anapc2 UTSW 2 25272561 unclassified probably benign
RF043:Anapc2 UTSW 2 25272561 unclassified probably benign
RF062:Anapc2 UTSW 2 25272537 frame shift probably null
X0025:Anapc2 UTSW 2 25279278 missense probably benign 0.01
Z1088:Anapc2 UTSW 2 25273368 nonsense probably null
Posted On2013-12-09