Incidental Mutation 'R6379:Anxa1'
ID 515240
Institutional Source Beutler Lab
Gene Symbol Anxa1
Ensembl Gene ENSMUSG00000024659
Gene Name annexin A1
Synonyms Anx-1, Anx-A1, Lpc-1, Lpc1, C430014K04Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R6379 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 20350798-20368035 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 20351079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 347 (*347W)
Ref Sequence ENSEMBL: ENSMUSP00000025561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025561]
AlphaFold P10107
Predicted Effect probably null
Transcript: ENSMUST00000025561
AA Change: *347W
SMART Domains Protein: ENSMUSP00000025561
Gene: ENSMUSG00000024659
AA Change: *347W

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: ENSMUST00000165518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171423
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,269,912 (GRCm39) R21S probably benign Het
Aadacl4fm1 G T 4: 144,248,912 (GRCm39) R93L probably benign Het
Adcy5 A T 16: 35,114,369 (GRCm39) T991S probably benign Het
Aldh18a1 A T 19: 40,566,214 (GRCm39) probably null Het
Aopep T A 13: 63,216,057 (GRCm39) I443K probably damaging Het
Arid1a G T 4: 133,408,238 (GRCm39) L2090I unknown Het
Armh3 A T 19: 45,910,136 (GRCm39) V472D possibly damaging Het
Bambi T A 18: 3,512,198 (GRCm39) L194Q probably damaging Het
Card9 A G 2: 26,246,789 (GRCm39) V353A probably damaging Het
Ccdc198 T A 14: 49,481,191 (GRCm39) I99F probably benign Het
Ccdc60 C A 5: 116,269,082 (GRCm39) probably null Het
Ccdc71 A G 9: 108,340,811 (GRCm39) K208R possibly damaging Het
Cdh12 T C 15: 21,492,743 (GRCm39) V254A probably benign Het
Cep295nl T A 11: 118,224,556 (GRCm39) N96I probably benign Het
Ces1f C A 8: 94,006,279 (GRCm39) C17F probably benign Het
Clic6 C A 16: 92,336,423 (GRCm39) T577K probably damaging Het
Col28a1 T C 6: 8,012,996 (GRCm39) M1019V probably benign Het
Ctnnd2 C A 15: 30,634,844 (GRCm39) S73Y probably damaging Het
Daam1 C T 12: 71,998,712 (GRCm39) L556F unknown Het
Dchs2 A C 3: 83,262,453 (GRCm39) N2907T probably damaging Het
Dlgap3 A C 4: 127,128,767 (GRCm39) E829A probably damaging Het
Dpysl5 A T 5: 30,935,317 (GRCm39) probably null Het
Draxin C A 4: 148,192,400 (GRCm39) C304F probably damaging Het
Eif3j1 A G 2: 121,878,005 (GRCm39) D131G possibly damaging Het
Fads1 T C 19: 10,160,551 (GRCm39) Y46H probably damaging Het
Fcgbpl1 A C 7: 27,857,017 (GRCm39) T2122P probably damaging Het
Figla T A 6: 85,995,562 (GRCm39) I72K probably damaging Het
Fnbp4 T A 2: 90,581,468 (GRCm39) S174T probably benign Het
Foxn3 C A 12: 99,162,537 (GRCm39) A455S probably benign Het
Fyn C T 10: 39,331,070 (GRCm39) probably benign Het
Gtse1 G A 15: 85,748,425 (GRCm39) G277S probably benign Het
H2bc15 T A 13: 21,938,588 (GRCm39) V99E probably benign Het
Icam4 C A 9: 20,941,078 (GRCm39) A110E probably damaging Het
Itih3 G A 14: 30,631,681 (GRCm39) S802L probably damaging Het
Kcng4 T A 8: 120,360,359 (GRCm39) R6* probably null Het
Kmt2c A T 5: 25,564,339 (GRCm39) C977S probably damaging Het
Lrrc8d A T 5: 105,960,675 (GRCm39) M362L probably benign Het
Mtus2 T C 5: 148,014,008 (GRCm39) I267T probably benign Het
Nab1 A G 1: 52,520,156 (GRCm39) V275A probably damaging Het
Nfasc G A 1: 132,498,280 (GRCm39) Q1308* probably null Het
Nop9 T C 14: 55,983,249 (GRCm39) S7P possibly damaging Het
Npbwr1 G T 1: 5,987,438 (GRCm39) N25K probably benign Het
Nptx2 T C 5: 144,490,252 (GRCm39) L227P probably damaging Het
Nrg1 T C 8: 33,373,749 (GRCm39) probably benign Het
Nup160 T A 2: 90,532,753 (GRCm39) C571* probably null Het
Nynrin T C 14: 56,107,848 (GRCm39) L985P probably damaging Het
Obsl1 A C 1: 75,479,787 (GRCm39) L341R probably damaging Het
Or1r1 T G 11: 73,875,099 (GRCm39) S112R probably damaging Het
Pate7 T A 9: 35,689,381 (GRCm39) probably benign Het
Phip G T 9: 82,795,910 (GRCm39) N570K probably damaging Het
Pigx A T 16: 31,903,341 (GRCm39) I240N probably damaging Het
Platr25 T C 13: 62,854,051 (GRCm39) D37G probably damaging Het
Ppl A T 16: 4,915,555 (GRCm39) M639K probably benign Het
Scnn1b T G 7: 121,514,551 (GRCm39) M441R probably benign Het
Sh3gl1 A T 17: 56,326,143 (GRCm39) M121K probably damaging Het
Slc30a4 A T 2: 122,531,469 (GRCm39) V132D probably damaging Het
Slc38a7 A G 8: 96,575,155 (GRCm39) S42P probably benign Het
Slc66a1 G A 4: 139,027,296 (GRCm39) L349F probably benign Het
Srp68 A G 11: 116,156,227 (GRCm39) C172R probably damaging Het
Suz12 A T 11: 79,906,014 (GRCm39) D292V possibly damaging Het
Sv2b A T 7: 74,786,048 (GRCm39) D457E possibly damaging Het
Tas2r120 T C 6: 132,634,773 (GRCm39) V285A probably benign Het
Tdo2 T A 3: 81,866,102 (GRCm39) probably benign Het
Them7 G T 2: 105,115,031 (GRCm39) probably null Het
Tnip2 T C 5: 34,660,979 (GRCm39) T158A probably damaging Het
Tonsl C T 15: 76,513,942 (GRCm39) R1209H probably benign Het
Trpc2 T A 7: 101,745,298 (GRCm39) L838* probably null Het
Trpm1 A G 7: 63,848,942 (GRCm39) I63V probably benign Het
Vps13d A T 4: 144,814,828 (GRCm39) N90K probably benign Het
Ylpm1 C T 12: 85,077,574 (GRCm39) S1433F probably damaging Het
Zbtb18 A G 1: 177,275,141 (GRCm39) D158G probably damaging Het
Zfhx2 T A 14: 55,311,795 (GRCm39) T300S probably benign Het
Zscan2 T A 7: 80,513,085 (GRCm39) D23E probably benign Het
Other mutations in Anxa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Anxa1 APN 19 20,355,033 (GRCm39) missense probably benign 0.01
IGL03234:Anxa1 APN 19 20,354,965 (GRCm39) splice site probably benign
R0058:Anxa1 UTSW 19 20,361,141 (GRCm39) missense probably damaging 1.00
R0058:Anxa1 UTSW 19 20,361,141 (GRCm39) missense probably damaging 1.00
R1446:Anxa1 UTSW 19 20,351,103 (GRCm39) missense probably damaging 1.00
R1864:Anxa1 UTSW 19 20,357,053 (GRCm39) missense probably benign 0.00
R2213:Anxa1 UTSW 19 20,360,239 (GRCm39) missense probably damaging 1.00
R4787:Anxa1 UTSW 19 20,351,118 (GRCm39) missense probably damaging 0.98
R5013:Anxa1 UTSW 19 20,360,287 (GRCm39) missense probably benign 0.02
R5453:Anxa1 UTSW 19 20,357,703 (GRCm39) critical splice donor site probably null
R5468:Anxa1 UTSW 19 20,355,847 (GRCm39) missense probably damaging 1.00
R5918:Anxa1 UTSW 19 20,355,857 (GRCm39) splice site probably benign
R6059:Anxa1 UTSW 19 20,355,064 (GRCm39) missense possibly damaging 0.91
R6394:Anxa1 UTSW 19 20,361,213 (GRCm39) missense probably damaging 1.00
R7049:Anxa1 UTSW 19 20,352,635 (GRCm39) missense probably benign
R8280:Anxa1 UTSW 19 20,352,650 (GRCm39) missense possibly damaging 0.79
R8950:Anxa1 UTSW 19 20,352,662 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATGGGGCTTTATAATTTGGGATAAACA -3'
(R):5'- TCTACAAACACCATGCTACTTCT -3'

Sequencing Primer
(F):5'- GACTTATCTGCCAAAGCAAC -3'
(R):5'- CTCACAGTCAGCTATTGGATGGATC -3'
Posted On 2018-05-04