Incidental Mutation 'R2180:Anxa9'
ID 237104
Institutional Source Beutler Lab
Gene Symbol Anxa9
Ensembl Gene ENSMUSG00000015702
Gene Name annexin A9
Synonyms 2310069F17Rik
MMRRC Submission 040182-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2180 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95203407-95214487 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 95213735 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 null
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 null
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 null
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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T C 16: 85,684,812 (GRCm39) D377G probably damaging Het
Adgrl4 A T 3: 151,205,779 (GRCm39) I164F probably damaging Het
Aox4 A T 1: 58,252,226 (GRCm39) T34S probably benign Het
Asic1 G T 15: 99,569,846 (GRCm39) V56F probably benign Het
Atpaf1 T C 4: 115,645,557 (GRCm39) M1T probably null Het
Axin1 A G 17: 26,362,309 (GRCm39) T218A probably benign Het
Bdp1 ATTCTTCTTCTTCTTCTTC ATTCTTCTTCTTCTTCTTCTTC 13: 100,197,913 (GRCm39) probably benign Het
Birc6 T C 17: 74,919,146 (GRCm39) I1988T probably benign Het
Btbd7 A T 12: 102,752,156 (GRCm39) D869E probably damaging Het
Caln1 T C 5: 130,868,249 (GRCm39) *220Q probably null Het
Ccdc150 G A 1: 54,311,706 (GRCm39) probably null Het
Ccnt1 A T 15: 98,441,481 (GRCm39) S596T possibly damaging Het
Cd44 C T 2: 102,658,955 (GRCm39) G640E possibly damaging Het
Cep192 A G 18: 67,957,813 (GRCm39) E582G possibly damaging Het
Clcnkb G T 4: 141,136,819 (GRCm39) probably null Het
Dhx29 T C 13: 113,099,406 (GRCm39) probably null Het
Dnah8 T C 17: 31,059,621 (GRCm39) F4407S probably benign Het
Enah A T 1: 181,746,024 (GRCm39) M419K probably damaging Het
Fancd2 A T 6: 113,551,598 (GRCm39) T1055S probably benign Het
Gigyf2 G A 1: 87,344,642 (GRCm39) G525D probably damaging Het
Gm5800 T A 14: 51,953,451 (GRCm39) K55* probably null Het
Gpr149 A G 3: 62,511,489 (GRCm39) L170P probably damaging Het
Grik4 A T 9: 42,453,301 (GRCm39) Y695N probably benign Het
Gsg1 A T 6: 135,217,143 (GRCm39) V228D probably damaging Het
Helb G A 10: 119,941,353 (GRCm39) T445M probably benign Het
Helz2 A T 2: 180,875,525 (GRCm39) D1656E probably damaging Het
Hyou1 A T 9: 44,299,316 (GRCm39) K669M probably benign Het
Itga2 T C 13: 114,985,917 (GRCm39) N953D possibly damaging Het
Ldhd T C 8: 112,356,018 (GRCm39) I122V probably benign Het
Lrrtm1 A G 6: 77,221,329 (GRCm39) D262G probably damaging Het
Mapkapk5 T C 5: 121,673,927 (GRCm39) probably null Het
Msantd5l C A 11: 51,145,437 (GRCm39) W50L probably damaging Het
Niban1 A T 1: 151,593,829 (GRCm39) H838L probably benign Het
Numa1 T C 7: 101,649,197 (GRCm39) I976T probably benign Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or2a12 C T 6: 42,904,459 (GRCm39) T98I probably benign Het
Or4f14b A G 2: 111,775,348 (GRCm39) V151A probably benign Het
Or52e4 T C 7: 104,706,092 (GRCm39) I213T probably benign Het
Patj G A 4: 98,411,739 (GRCm39) probably null Het
Pfas T C 11: 68,883,013 (GRCm39) D757G possibly damaging Het
Pom121l2 A G 13: 22,166,145 (GRCm39) N139D probably benign Het
Ppp2r3d A T 9: 101,004,214 (GRCm39) Y994* probably null Het
Ppp6c T C 2: 39,087,525 (GRCm39) D227G probably benign Het
Ptpn13 T G 5: 103,717,424 (GRCm39) H1855Q probably damaging Het
Ptprh T A 7: 4,604,867 (GRCm39) Q59L probably benign Het
Rap1gap2 T C 11: 74,283,972 (GRCm39) K669E probably benign Het
Rbl2 T C 8: 91,816,683 (GRCm39) S348P possibly damaging Het
Rptor T A 11: 119,615,970 (GRCm39) N161K probably damaging Het
Satb1 C T 17: 52,110,524 (GRCm39) A192T probably damaging Het
Scn5a A G 9: 119,345,117 (GRCm39) V1083A probably benign Het
Sec14l2 C T 11: 4,058,964 (GRCm39) A194T probably damaging Het
Sema4b A G 7: 79,862,583 (GRCm39) N53S probably benign Het
Sin3b T A 8: 73,479,923 (GRCm39) Y876* probably null Het
Smchd1 C A 17: 71,770,794 (GRCm39) M129I probably benign Het
Spmip6 T A 4: 41,507,170 (GRCm39) M209L probably benign Het
Tmc1 T C 19: 20,801,448 (GRCm39) Y484C probably damaging Het
Utp20 A G 10: 88,656,801 (GRCm39) S135P probably damaging Het
Zfp266 A T 9: 20,410,975 (GRCm39) C401S probably damaging Het
Zfp738 G A 13: 67,819,313 (GRCm39) T226I probably damaging Het
Zfp871 G A 17: 32,994,275 (GRCm39) T300M probably damaging 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
R0356:Anxa9 UTSW 3 95,215,387 (GRCm39) unclassified probably benign
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
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'- CCAGCATCTTCTGGCCTTTAAG -3'
(R):5'- GCCAGAAGCTAAGTCCTTCCTC -3'

Sequencing Primer
(F):5'- GCACTAACCTGGCAAGTGTG -3'
(R):5'- GAAGCTAAGTCCTTCCTCTCGCC -3'
Posted On 2014-10-02