Incidental Mutation 'IGL03243:Anxa3'
ID 414325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa3
Ensembl Gene ENSMUSG00000029484
Gene Name annexin A3
Synonyms Anx3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03243
Quality Score
Status
Chromosome 5
Chromosomal Location 96941244-96993827 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 96976551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031447] [ENSMUST00000198631] [ENSMUST00000200379]
AlphaFold O35639
Predicted Effect probably benign
Transcript: ENSMUST00000031447
SMART Domains Protein: ENSMUSP00000031447
Gene: ENSMUSG00000029484

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: ENSMUST00000197196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197339
Predicted Effect probably benign
Transcript: ENSMUST00000198631
SMART Domains Protein: ENSMUSP00000143491
Gene: ENSMUSG00000029484

DomainStartEndE-ValueType
ANX 35 87 5.74e-24 SMART
ANX 107 159 1.67e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199390
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
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 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 44,021,733 (GRCm39) T586A probably benign Het
Agtr1b T C 3: 20,369,959 (GRCm39) T216A probably benign Het
Ankdd1a T C 9: 65,408,752 (GRCm39) R505G probably benign Het
Atp6v1c2 C T 12: 17,339,122 (GRCm39) V210I probably benign Het
BC034090 G A 1: 155,101,401 (GRCm39) P288S possibly damaging Het
Catsper2 T C 2: 121,237,300 (GRCm39) H200R probably benign Het
Ceacam23 A T 7: 17,652,574 (GRCm39) noncoding transcript Het
Cntnap5c G T 17: 58,409,171 (GRCm39) A470S probably benign Het
Fcho2 G A 13: 98,913,892 (GRCm39) probably benign Het
Frem1 A C 4: 82,932,206 (GRCm39) L165R probably damaging Het
Gpn1 G A 5: 31,668,175 (GRCm39) probably null Het
Gpr179 T C 11: 97,242,301 (GRCm39) N181S probably benign Het
Heatr5b A T 17: 79,070,509 (GRCm39) probably benign Het
Kat6a A G 8: 23,400,238 (GRCm39) N333S possibly damaging Het
Lrp5 T C 19: 3,680,159 (GRCm39) T442A probably benign Het
Myo15a G T 11: 60,387,344 (GRCm39) L722F probably damaging Het
Nlrp9c T G 7: 26,064,457 (GRCm39) D957A probably damaging Het
Nup58 T A 14: 60,459,065 (GRCm39) T521S probably benign Het
Or7e165 T G 9: 19,694,564 (GRCm39) I45S probably damaging Het
Plek C A 11: 16,945,319 (GRCm39) V4L possibly damaging Het
Sell T A 1: 163,892,911 (GRCm39) H42Q possibly damaging Het
Slfn8 A T 11: 82,894,533 (GRCm39) I702K probably damaging Het
Svep1 T C 4: 58,133,387 (GRCm39) I573V probably benign Het
Tgm1 T A 14: 55,943,364 (GRCm39) I526F probably damaging Het
Tmem30c A T 16: 57,096,513 (GRCm39) S203T probably benign Het
Tox T C 4: 6,697,597 (GRCm39) N402S possibly damaging Het
Trav7d-4 C A 14: 53,007,555 (GRCm39) probably benign Het
Unc13d A T 11: 115,958,670 (GRCm39) V784D probably benign Het
Vmn2r68 A G 7: 84,882,963 (GRCm39) V263A possibly damaging Het
Zfp385c A T 11: 100,525,573 (GRCm39) V56D probably damaging Het
Znrf2 A T 6: 54,861,754 (GRCm39) I222L possibly damaging Het
Other mutations in Anxa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01984:Anxa3 APN 5 96,982,630 (GRCm39) splice site 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
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
Posted On 2016-08-02