Incidental Mutation 'IGL03268:Anxa5'
ID415145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa5
Ensembl Gene ENSMUSG00000027712
Gene Nameannexin A5
SynonymsAnx5, annexin V
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03268
Quality Score
Status
Chromosome3
Chromosomal Location36448923-36475894 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36450679 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 245 (I245V)
Ref Sequence ENSEMBL: ENSMUSP00000029266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029266] [ENSMUST00000199478]
Predicted Effect probably benign
Transcript: ENSMUST00000029266
AA Change: I245V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029266
Gene: ENSMUSG00000027712
AA Change: I245V

DomainStartEndE-ValueType
ANX 30 82 1.65e-24 SMART
ANX 102 154 4.52e-22 SMART
ANX 186 238 3.54e-15 SMART
ANX 261 313 4.52e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196097
Predicted Effect probably benign
Transcript: ENSMUST00000199478
SMART Domains Protein: ENSMUSP00000143650
Gene: ENSMUSG00000027712

DomainStartEndE-ValueType
ANX 30 90 4.8e-5 SMART
ANX 91 137 4.9e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable, fertile, and develop normally. Bone development and maintenance are normal, as are clinical-chemical parameters. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Anxa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Anxa5 APN 3 36457497 missense possibly damaging 0.85
IGL02125:Anxa5 APN 3 36452264 missense probably damaging 1.00
IGL02686:Anxa5 APN 3 36449355 missense probably benign 0.19
R0131:Anxa5 UTSW 3 36450672 missense probably damaging 0.96
R0131:Anxa5 UTSW 3 36450672 missense probably damaging 0.96
R0132:Anxa5 UTSW 3 36450672 missense probably damaging 0.96
R0365:Anxa5 UTSW 3 36457469 missense probably damaging 0.98
R0376:Anxa5 UTSW 3 36460488 missense probably damaging 1.00
R1393:Anxa5 UTSW 3 36453509 missense probably damaging 1.00
R1424:Anxa5 UTSW 3 36452292 splice site probably null
R1626:Anxa5 UTSW 3 36461981 missense probably damaging 1.00
R1778:Anxa5 UTSW 3 36465331 missense probably damaging 0.97
R1873:Anxa5 UTSW 3 36449402 missense probably damaging 1.00
R3861:Anxa5 UTSW 3 36450658 missense probably benign 0.36
R4076:Anxa5 UTSW 3 36450380 missense probably benign
R5871:Anxa5 UTSW 3 36452249 missense possibly damaging 0.94
R6018:Anxa5 UTSW 3 36450658 missense probably benign 0.36
R6056:Anxa5 UTSW 3 36450691 missense probably damaging 0.98
R6081:Anxa5 UTSW 3 36465287 missense probably damaging 1.00
R6522:Anxa5 UTSW 3 36465302 missense probably damaging 1.00
R7748:Anxa5 UTSW 3 36465331 missense probably damaging 0.97
Posted On2016-08-02