Incidental Mutation 'R0356:Anxa9'
ID 29817
Institutional Source Beutler Lab
Gene Symbol Anxa9
Ensembl Gene ENSMUSG00000015702
Gene Name annexin A9
Synonyms 2310069F17Rik
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0356 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95203407-95214487 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 95215387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015846] [ENSMUST00000107183] [ENSMUST00000123365] [ENSMUST00000164406]
AlphaFold Q9JHQ0
Predicted Effect probably benign
Transcript: ENSMUST00000015846
SMART Domains Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702

DomainStartEndE-ValueType
ANX 58 110 1.48e-17 SMART
ANX 130 182 6.56e-10 SMART
ANX 212 264 1.52e-1 SMART
ANX 287 339 1.03e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098867
Predicted Effect probably benign
Transcript: ENSMUST00000107183
SMART Domains Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702

DomainStartEndE-ValueType
ANX 58 110 1.48e-17 SMART
ANX 130 182 6.56e-10 SMART
ANX 212 264 1.52e-1 SMART
ANX 287 339 1.03e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123365
Predicted Effect probably benign
Transcript: ENSMUST00000164406
SMART Domains Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702

DomainStartEndE-ValueType
ANX 58 110 1.48e-17 SMART
ANX 130 182 6.56e-10 SMART
ANX 212 264 1.52e-1 SMART
ANX 287 339 1.03e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198947
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Anxa9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Anxa9 APN 3 95,209,743 (GRCm39) splice site probably benign
IGL01618:Anxa9 APN 3 95,207,847 (GRCm39) splice site probably null
IGL02272:Anxa9 APN 3 95,213,205 (GRCm39) missense probably benign 0.11
R0012:Anxa9 UTSW 3 95,215,406 (GRCm39) unclassified probably benign
R0128:Anxa9 UTSW 3 95,209,733 (GRCm39) missense probably benign 0.02
R0130:Anxa9 UTSW 3 95,209,733 (GRCm39) missense probably benign 0.02
R1656:Anxa9 UTSW 3 95,207,884 (GRCm39) missense probably benign 0.02
R1967:Anxa9 UTSW 3 95,207,919 (GRCm39) missense probably benign 0.00
R2180:Anxa9 UTSW 3 95,213,735 (GRCm39) critical splice acceptor site probably null
R2359:Anxa9 UTSW 3 95,210,062 (GRCm39) missense probably damaging 1.00
R3155:Anxa9 UTSW 3 95,209,716 (GRCm39) missense probably benign 0.04
R3156:Anxa9 UTSW 3 95,209,716 (GRCm39) missense probably benign 0.04
R3767:Anxa9 UTSW 3 95,208,425 (GRCm39) missense probably benign 0.00
R4693:Anxa9 UTSW 3 95,204,667 (GRCm39) missense probably benign 0.00
R4974:Anxa9 UTSW 3 95,215,324 (GRCm39) unclassified probably benign
R5435:Anxa9 UTSW 3 95,204,561 (GRCm39) missense probably damaging 1.00
R6342:Anxa9 UTSW 3 95,204,101 (GRCm39) makesense probably null
R7272:Anxa9 UTSW 3 95,213,184 (GRCm39) missense probably damaging 1.00
R8210:Anxa9 UTSW 3 95,213,207 (GRCm39) missense probably damaging 1.00
R8673:Anxa9 UTSW 3 95,207,657 (GRCm39) missense probably benign 0.03
R8728:Anxa9 UTSW 3 95,209,979 (GRCm39) missense probably damaging 0.99
R9342:Anxa9 UTSW 3 95,210,359 (GRCm39) missense probably damaging 1.00
R9542:Anxa9 UTSW 3 95,210,379 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGGGAGGCAAGAGGACTGTTTATATC -3'
(R):5'- TCAGAATATGGTTGCCACAATGGAGG -3'

Sequencing Primer
(F):5'- GGTTACAGCTCGAAACCCTG -3'
(R):5'- GGCCTTTATTCCCAGTGTCC -3'
Posted On 2013-04-24