Incidental Mutation 'R8018:Anxa3'
ID 617210
Institutional Source Beutler Lab
Gene Symbol Anxa3
Ensembl Gene ENSMUSG00000029484
Gene Name annexin A3
Synonyms Anx3
MMRRC Submission 067458-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8018 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 96941244-96993827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96968288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 114 (I114F)
Ref Sequence ENSEMBL: ENSMUSP00000143491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031447] [ENSMUST00000198631] [ENSMUST00000199330] [ENSMUST00000200379]
AlphaFold O35639
Predicted Effect probably damaging
Transcript: ENSMUST00000031447
AA Change: I114F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031447
Gene: ENSMUSG00000029484
AA Change: I114F

DomainStartEndE-ValueType
ANX 35 87 5.74e-24 SMART
ANX 107 159 1.67e-25 SMART
ANX 191 243 3.67e-22 SMART
ANX 266 318 2.87e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197339
Predicted Effect probably damaging
Transcript: ENSMUST00000198631
AA Change: I114F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143491
Gene: ENSMUSG00000029484
AA Change: I114F

DomainStartEndE-ValueType
ANX 35 87 5.74e-24 SMART
ANX 107 159 1.67e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199330
SMART Domains Protein: ENSMUSP00000143615
Gene: ENSMUSG00000029484

DomainStartEndE-ValueType
ANX 35 84 1.5e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199656
Predicted Effect probably damaging
Transcript: ENSMUST00000200379
AA Change: I31F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142527
Gene: ENSMUSG00000029484
AA Change: I31F

DomainStartEndE-ValueType
ANX 24 76 7.2e-28 SMART
Meta Mutation Damage Score 0.6157 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,880,991 (GRCm39) T146I unknown Het
Abca16 A G 7: 120,132,866 (GRCm39) E1265G probably benign Het
Adar T C 3: 89,654,882 (GRCm39) S924P probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
AI429214 A T 8: 37,460,820 (GRCm39) probably benign Het
Ankmy1 A T 1: 92,814,003 (GRCm39) L392Q probably benign Het
Ccdc158 T C 5: 92,771,260 (GRCm39) D985G possibly damaging Het
Cndp2 C T 18: 84,686,727 (GRCm39) V432I probably benign Het
Ctbp2 T C 7: 132,616,095 (GRCm39) K280R probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dnaaf4 T A 9: 72,879,598 (GRCm39) probably benign Het
Dynap T C 18: 70,375,093 (GRCm39) T41A possibly damaging Het
Elfn2 A G 15: 78,557,968 (GRCm39) L193P probably damaging Het
Fcrl2 A T 3: 87,166,933 (GRCm39) L20* probably null Het
Flcn T C 11: 59,684,948 (GRCm39) D501G probably damaging Het
Gmip A G 8: 70,268,143 (GRCm39) E399G probably benign Het
Grm7 A G 6: 111,184,737 (GRCm39) E356G probably benign Het
Hs3st2 A G 7: 121,099,639 (GRCm39) probably null Het
Kcnh2 G A 5: 24,525,014 (GRCm39) S1158L probably damaging Het
Lancl2 A G 6: 57,690,078 (GRCm39) T104A probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Mthfd2l T A 5: 91,107,672 (GRCm39) I178N probably damaging Het
Nbeal2 G T 9: 110,458,225 (GRCm39) probably benign Het
Niban1 A T 1: 151,593,006 (GRCm39) K564* probably null Het
Nipal3 C T 4: 135,174,659 (GRCm39) R364H possibly damaging Het
Or2b4 A G 17: 38,116,038 (GRCm39) M1V probably null Het
Oxa1l A G 14: 54,600,757 (GRCm39) I77V not run Het
Phf10 T A 17: 15,174,378 (GRCm39) Q233H possibly damaging Het
Pias2 T A 18: 77,216,654 (GRCm39) N288K probably benign Het
Pramel43 T C 5: 94,761,839 (GRCm39) N244S probably benign Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Ptprd T C 4: 76,003,757 (GRCm39) T1010A probably damaging Het
Ralgapa2 T C 2: 146,182,311 (GRCm39) D1676G probably damaging Het
Rapgefl1 T G 11: 98,731,166 (GRCm39) probably null Het
Rrp7a C T 15: 83,001,125 (GRCm39) E269K possibly damaging Het
Ryr3 A C 2: 112,508,777 (GRCm39) M3399R probably damaging Het
Secisbp2l C A 2: 125,587,829 (GRCm39) R762L probably damaging Het
Smad7 T G 18: 75,502,355 (GRCm39) L110R possibly damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tcea3 T G 4: 135,985,229 (GRCm39) probably benign Het
Tdrd9 T C 12: 111,999,180 (GRCm39) V765A probably benign Het
Tdrd9 C T 12: 112,010,822 (GRCm39) R1130W probably damaging Het
Tia1 C T 6: 86,402,034 (GRCm39) P189S probably benign Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Ubxn8 A G 8: 34,113,243 (GRCm39) C204R probably damaging Het
Vmn1r76 A G 7: 11,664,810 (GRCm39) S135P probably damaging Het
Vps18 T A 2: 119,124,492 (GRCm39) L473H probably damaging Het
Zfp444 A G 7: 6,191,142 (GRCm39) T108A probably benign Het
Other mutations in Anxa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01984:Anxa3 APN 5 96,982,630 (GRCm39) splice site probably benign
IGL03243:Anxa3 APN 5 96,976,551 (GRCm39) unclassified probably benign
F6893:Anxa3 UTSW 5 96,972,853 (GRCm39) unclassified probably benign
R0026:Anxa3 UTSW 5 96,986,260 (GRCm39) missense probably benign 0.01
R0468:Anxa3 UTSW 5 96,958,958 (GRCm39) missense probably benign 0.00
R0562:Anxa3 UTSW 5 96,960,743 (GRCm39) missense possibly damaging 0.90
R0724:Anxa3 UTSW 5 96,976,607 (GRCm39) missense possibly damaging 0.70
R1442:Anxa3 UTSW 5 96,976,549 (GRCm39) splice site probably null
R2276:Anxa3 UTSW 5 96,978,349 (GRCm39) critical splice donor site probably null
R4922:Anxa3 UTSW 5 96,968,288 (GRCm39) missense probably damaging 1.00
R5108:Anxa3 UTSW 5 96,978,273 (GRCm39) missense possibly damaging 0.83
R5230:Anxa3 UTSW 5 96,986,171 (GRCm39) missense possibly damaging 0.47
R5529:Anxa3 UTSW 5 96,976,238 (GRCm39) missense probably benign 0.00
R5733:Anxa3 UTSW 5 96,968,331 (GRCm39) missense probably damaging 1.00
R5857:Anxa3 UTSW 5 96,976,651 (GRCm39) critical splice donor site probably null
R5902:Anxa3 UTSW 5 96,960,712 (GRCm39) nonsense probably null
R6558:Anxa3 UTSW 5 96,960,798 (GRCm39) splice site probably null
R6772:Anxa3 UTSW 5 96,958,972 (GRCm39) missense probably damaging 0.98
R7425:Anxa3 UTSW 5 96,982,680 (GRCm39) missense probably benign 0.30
R7515:Anxa3 UTSW 5 96,986,179 (GRCm39) missense probably damaging 1.00
R7619:Anxa3 UTSW 5 96,978,263 (GRCm39) missense probably damaging 1.00
R8197:Anxa3 UTSW 5 96,982,651 (GRCm39) missense probably benign 0.05
R8405:Anxa3 UTSW 5 96,978,295 (GRCm39) missense probably benign 0.00
R8723:Anxa3 UTSW 5 96,986,206 (GRCm39) missense probably benign 0.05
R9046:Anxa3 UTSW 5 96,976,626 (GRCm39) missense probably damaging 0.99
R9119:Anxa3 UTSW 5 96,976,557 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GAAAATCAGAAACCTAGTGTCGAGC -3'
(R):5'- CTAACTTGCCCTGAACATGC -3'

Sequencing Primer
(F):5'- TCGAGCAATATGAGGTCCTACACTG -3'
(R):5'- CCCTGAACATGCACAGTTCATTGTAG -3'
Posted On 2020-01-23