Incidental Mutation 'IGL00592:Anxa1'
ID8976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa1
Ensembl Gene ENSMUSG00000024659
Gene Nameannexin A1
SynonymsC430014K04Rik, Anx-A1, Lpc1, Anx-1, Lpc-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.276) question?
Stock #IGL00592
Quality Score
Status
Chromosome19
Chromosomal Location20373428-20390944 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20377669 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 247 (D247G)
Ref Sequence ENSEMBL: ENSMUSP00000025561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025561]
Predicted Effect probably benign
Transcript: ENSMUST00000025561
AA Change: D247G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000025561
Gene: ENSMUSG00000024659
AA Change: D247G

DomainStartEndE-ValueType
ANX 59 111 4.45e-21 SMART
ANX 131 183 3.9e-26 SMART
ANX 215 267 4.86e-13 SMART
ANX 290 342 2.26e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171423
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 membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mutations in this gene result in increased inflammatory response and decreased macrophage activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,420,636 I91V probably damaging Het
Ak6 T C 13: 100,664,091 V74A probably benign Het
Antxr1 C A 6: 87,288,802 V110F probably damaging Het
Dgkg T C 16: 22,479,362 probably benign Het
Eva1b T C 4: 126,149,650 M161T probably benign Het
Fbxw22 C A 9: 109,384,040 V280F possibly damaging Het
Klhl9 A G 4: 88,721,141 S288P probably damaging Het
Masp2 C T 4: 148,602,729 P23S probably benign Het
Ncam1 T A 9: 49,523,565 D600V probably damaging Het
Pcnx4 A G 12: 72,579,365 N1115S probably damaging Het
Pdia2 A G 17: 26,198,116 V109A probably damaging Het
Pla1a G T 16: 38,414,850 H161N probably damaging Het
Prokr2 A T 2: 132,381,504 D39E probably benign Het
Sall4 T C 2: 168,755,963 D319G probably damaging Het
Sgms2 A G 3: 131,341,833 S131P possibly damaging Het
Slc22a2 A T 17: 12,608,418 Q319L possibly damaging Het
Slc27a5 A G 7: 12,988,639 I636T probably benign Het
Tas2r131 T G 6: 132,957,196 T217P probably damaging Het
Trh T C 6: 92,242,742 M198V possibly damaging Het
Ube2b A C 11: 51,986,719 V141G probably damaging Het
Ube2l6 T A 2: 84,809,029 V112E probably damaging Het
Vmn1r79 T C 7: 12,177,007 I272T probably benign Het
Xylb C T 9: 119,390,483 Q513* probably null Het
Zbtb4 T A 11: 69,776,731 C287* probably null Het
Other mutations in Anxa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03234:Anxa1 APN 19 20377601 splice site probably benign
R0058:Anxa1 UTSW 19 20383777 missense probably damaging 1.00
R0058:Anxa1 UTSW 19 20383777 missense probably damaging 1.00
R1446:Anxa1 UTSW 19 20373739 missense probably damaging 1.00
R1864:Anxa1 UTSW 19 20379689 missense probably benign 0.00
R2213:Anxa1 UTSW 19 20382875 missense probably damaging 1.00
R4787:Anxa1 UTSW 19 20373754 missense probably damaging 0.98
R5013:Anxa1 UTSW 19 20382923 missense probably benign 0.02
R5453:Anxa1 UTSW 19 20380339 critical splice donor site probably null
R5468:Anxa1 UTSW 19 20378483 missense probably damaging 1.00
R5918:Anxa1 UTSW 19 20378493 splice site probably benign
R6059:Anxa1 UTSW 19 20377700 missense possibly damaging 0.91
R6379:Anxa1 UTSW 19 20373715 makesense probably null
R6394:Anxa1 UTSW 19 20383849 missense probably damaging 1.00
R7049:Anxa1 UTSW 19 20375271 missense probably benign
Posted On2012-12-06