Incidental Mutation 'R0562:Anxa3'
ID 45934
Institutional Source Beutler Lab
Gene Symbol Anxa3
Ensembl Gene ENSMUSG00000029484
Gene Name annexin A3
Synonyms Anx3
MMRRC Submission 038753-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0562 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 96941244-96993827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 96960743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 49 (S49L)
Ref Sequence ENSEMBL: ENSMUSP00000143491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031447] [ENSMUST00000198631] [ENSMUST00000199330] [ENSMUST00000200379]
AlphaFold O35639
Predicted Effect probably benign
Transcript: ENSMUST00000031447
AA Change: S49L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031447
Gene: ENSMUSG00000029484
AA Change: S49L

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 possibly damaging
Transcript: ENSMUST00000198631
AA Change: S49L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143491
Gene: ENSMUSG00000029484
AA Change: S49L

DomainStartEndE-ValueType
ANX 35 87 5.74e-24 SMART
ANX 107 159 1.67e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199330
AA Change: S49L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143615
Gene: ENSMUSG00000029484
AA Change: S49L

DomainStartEndE-ValueType
ANX 35 84 1.5e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199656
Predicted Effect probably benign
Transcript: ENSMUST00000200379
SMART Domains Protein: ENSMUSP00000142527
Gene: ENSMUSG00000029484

DomainStartEndE-ValueType
ANX 24 76 7.2e-28 SMART
Meta Mutation Damage Score 0.5988 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb C T 7: 131,027,518 (GRCm39) Q63* probably null Het
Adam26b A T 8: 43,973,408 (GRCm39) N531K probably benign Het
Agt A G 8: 125,286,014 (GRCm39) I356T probably benign Het
Ankmy1 A T 1: 92,827,413 (GRCm39) probably benign Het
Arap3 C A 18: 38,108,593 (GRCm39) R1279L probably damaging Het
Azin1 A G 15: 38,493,825 (GRCm39) I266T probably benign Het
Btnl7-ps T C 17: 34,752,498 (GRCm39) noncoding transcript Het
Car5a T A 8: 122,671,469 (GRCm39) T22S probably benign Het
Card6 A G 15: 5,134,648 (GRCm39) I185T probably damaging Het
Ccdc81 T C 7: 89,552,437 (GRCm39) D11G probably benign Het
Cep170b T C 12: 112,705,623 (GRCm39) V1127A probably benign Het
Ces1h T C 8: 94,083,771 (GRCm39) I390M unknown Het
Col9a1 T A 1: 24,218,360 (GRCm39) probably null Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Cyb561a3 T C 19: 10,564,074 (GRCm39) V138A probably benign Het
Dcaf1 T C 9: 106,721,321 (GRCm39) probably benign Het
Dnah17 A G 11: 117,963,726 (GRCm39) Y2516H probably damaging Het
Dsc2 T A 18: 20,174,594 (GRCm39) N521Y probably damaging Het
Dst G A 1: 34,267,062 (GRCm39) E4835K probably damaging Het
Duox2 T C 2: 122,120,080 (GRCm39) E810G probably damaging Het
Dusp15 T C 2: 152,793,268 (GRCm39) N3S possibly damaging Het
Eif1ad9 A G 12: 88,296,436 (GRCm39) D138G unknown Het
Epha4 T C 1: 77,365,124 (GRCm39) K625R probably benign Het
Fcgbpl1 G A 7: 27,862,115 (GRCm39) V2394I probably benign Het
Gata5 C T 2: 179,969,552 (GRCm39) probably null Het
Grm5 A G 7: 87,252,227 (GRCm39) N159S probably damaging Het
Hivep3 T A 4: 119,953,751 (GRCm39) M689K probably benign Het
Ift56 T A 6: 38,378,064 (GRCm39) V292E probably damaging Het
Ilvbl G T 10: 78,419,321 (GRCm39) G499C probably damaging Het
Inpp4b T C 8: 82,494,780 (GRCm39) I65T possibly damaging Het
Jarid2 T C 13: 45,055,835 (GRCm39) V208A probably damaging Het
Kcnh4 T C 11: 100,641,070 (GRCm39) M460V possibly damaging Het
Klhl22 A G 16: 17,610,488 (GRCm39) N580D probably benign Het
Klk15 T A 7: 43,588,269 (GRCm39) C192* probably null Het
Klk1b9 A G 7: 43,445,090 (GRCm39) E194G probably damaging Het
Lama1 G T 17: 68,122,954 (GRCm39) G2779V probably damaging Het
Lmln C T 16: 32,937,455 (GRCm39) R607* probably null Het
Maea T C 5: 33,529,645 (GRCm39) V377A probably benign Het
Matk A T 10: 81,095,525 (GRCm39) Y115F probably benign Het
Mettl18 A G 1: 163,824,062 (GRCm39) K128E probably benign Het
Mrps22 T C 9: 98,474,746 (GRCm39) H246R probably benign Het
Msln A T 17: 25,971,980 (GRCm39) M79K probably benign Het
Myf6 G A 10: 107,330,420 (GRCm39) P49L probably benign Het
Nat1 C T 8: 67,943,963 (GRCm39) T113I possibly damaging Het
Ncor2 C T 5: 125,162,093 (GRCm39) V394M unknown Het
Oas1c T C 5: 120,943,669 (GRCm39) probably benign Het
Or8k21 T A 2: 86,144,869 (GRCm39) T254S probably benign Het
Otp A T 13: 95,013,917 (GRCm39) T112S probably damaging Het
Pcdh7 A G 5: 57,877,405 (GRCm39) N320S probably damaging Het
Pdzd2 G T 15: 12,592,364 (GRCm39) F93L probably damaging Het
Phf20l1 A G 15: 66,481,453 (GRCm39) E283G probably damaging Het
Polr1e T C 4: 45,029,421 (GRCm39) F342S probably damaging Het
Pp2d1 T A 17: 53,846,196 (GRCm39) probably benign Het
Ptpn13 T A 5: 103,664,291 (GRCm39) probably null Het
Reg3g A T 6: 78,444,471 (GRCm39) H107Q possibly damaging Het
Rgl1 T C 1: 152,415,696 (GRCm39) K408E probably damaging Het
Samd4 T C 14: 47,314,966 (GRCm39) C309R probably damaging Het
Sestd1 C A 2: 77,061,066 (GRCm39) W104L probably benign Het
Sfmbt1 T A 14: 30,533,330 (GRCm39) probably null Het
Slc22a21 T A 11: 53,870,446 (GRCm39) K80* probably null Het
Snx20 T A 8: 89,356,630 (GRCm39) Q62L probably benign Het
Spef1l T C 7: 139,557,026 (GRCm39) M120V probably benign Het
Stk40 C A 4: 126,032,594 (GRCm39) probably benign Het
Taf2 A T 15: 54,885,584 (GRCm39) probably benign Het
Tcf23 C T 5: 31,127,654 (GRCm39) P152L probably damaging Het
Tex29 T C 8: 11,894,138 (GRCm39) probably benign Het
Tjp3 A G 10: 81,116,389 (GRCm39) V235A probably damaging Het
Tns3 A T 11: 8,443,262 (GRCm39) I367N possibly damaging Het
Ttn T A 2: 76,543,255 (GRCm39) M33244L probably benign Het
Ush2a A T 1: 188,089,044 (GRCm39) N333I probably damaging Het
Usp34 T C 11: 23,382,406 (GRCm39) probably benign Het
Vmn1r204 A C 13: 22,740,848 (GRCm39) S160R probably benign Het
Vmn2r75 C T 7: 85,797,449 (GRCm39) W788* probably null Het
Vwa5b1 T C 4: 138,363,022 (GRCm39) probably benign Het
Zbtb7a A G 10: 80,984,163 (GRCm39) E535G probably benign Het
Zfp1004 T A 2: 150,034,494 (GRCm39) C303S probably damaging Het
Zranb3 T C 1: 127,964,295 (GRCm39) D144G 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
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
R8018:Anxa3 UTSW 5 96,968,288 (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'- TGGGAGGAGCACTTAGAGATATCCAC -3'
(R):5'- AGCAGATGCACAGGGCAACTCTAC -3'

Sequencing Primer
(F):5'- aaacaaacaaacaaacaaacaaacc -3'
(R):5'- CTCTACCACACTCAGGGTAAAG -3'
Posted On 2013-06-11