Incidental Mutation 'IGL03234:Anxa1'
ID414014
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: 0.335) question?
Stock #IGL03234
Quality Score
Status
Chromosome19
Chromosomal Location20373428-20390944 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 20377601 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025561]
Predicted Effect probably benign
Transcript: ENSMUST00000025561
SMART Domains Protein: ENSMUSP00000025561
Gene: ENSMUSG00000024659

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,768,516 E574G probably damaging Het
Aox3 A G 1: 58,152,686 I466V probably benign Het
Arid4a A G 12: 71,045,060 K207E probably benign Het
Cftr T C 6: 18,225,988 F312L probably damaging Het
Cwf19l1 A G 19: 44,127,370 Y207H probably damaging Het
Dnttip2 A G 3: 122,282,438 D673G probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm13023 A G 4: 143,794,936 E374G probably benign Het
Herc2 T C 7: 56,103,862 S670P probably damaging Het
Mdn1 C T 4: 32,732,842 P3081S probably benign Het
N4bp2l2 G A 5: 150,650,726 Q75* probably null Het
Naip5 A T 13: 100,212,627 S1398T probably damaging Het
Nav2 T C 7: 49,462,008 V754A possibly damaging Het
Nox4 T C 7: 87,317,313 probably null Het
Prox1 T C 1: 190,161,636 Y204C probably damaging Het
Skiv2l2 T C 13: 112,880,975 probably benign Het
Slitrk5 A G 14: 111,679,285 S114G probably benign Het
Sprtn G A 8: 124,903,149 V394M possibly damaging Het
Tarsl2 T A 7: 65,652,278 H183Q probably benign Het
Thsd7a A G 6: 12,343,178 C1147R probably damaging Het
Uba7 G A 9: 107,976,400 R143Q probably damaging Het
Zp1 A G 19: 10,914,823 probably benign Het
Other mutations in Anxa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Anxa1 APN 19 20377669 missense probably benign 0.01
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 On2016-08-02