Incidental Mutation 'R2314:Anxa6'
ID 245426
Institutional Source Beutler Lab
Gene Symbol Anxa6
Ensembl Gene ENSMUSG00000018340
Gene Name annexin A6
Synonyms Anx6, Camb, Cabm, Annexin VI, AnxVI
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R2314 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 54869934-54924271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54902561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 58 (I58F)
Ref Sequence ENSEMBL: ENSMUSP00000099788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102727] [ENSMUST00000108883]
AlphaFold P14824
Predicted Effect probably damaging
Transcript: ENSMUST00000102727
AA Change: I58F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099788
Gene: ENSMUSG00000018340
AA Change: I58F

DomainStartEndE-ValueType
ANX 37 89 4.03e-19 SMART
ANX 109 161 2.09e-26 SMART
ANX 193 245 1.55e-20 SMART
ANX 268 320 2.23e-21 SMART
ANX 380 432 9.47e-25 SMART
ANX 452 504 1.12e-26 SMART
ANX 535 587 7.77e-12 SMART
ANX 610 662 4.73e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108883
AA Change: I58F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104511
Gene: ENSMUSG00000018340
AA Change: I58F

DomainStartEndE-ValueType
ANX 37 89 4.03e-19 SMART
ANX 109 161 2.09e-26 SMART
ANX 193 245 1.55e-20 SMART
ANX 268 320 2.23e-21 SMART
ANX 380 432 9.47e-25 SMART
ANX 452 504 1.12e-26 SMART
low complexity region 517 528 N/A INTRINSIC
ANX 541 593 7.77e-12 SMART
ANX 616 668 4.73e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148298
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele have normal immunological development but exhibit altered cardiomyocyte mechanics and intracellular calcium signaling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,309,322 (GRCm39) S39P probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Ccdc30 T A 4: 119,181,763 (GRCm39) K582* probably null Het
Cebpz A G 17: 79,227,976 (GRCm39) probably null Het
Clstn3 T A 6: 124,427,676 (GRCm39) D473V probably benign Het
Cry1 A T 10: 84,969,175 (GRCm39) C550S probably benign Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dolk G T 2: 30,175,497 (GRCm39) L183M probably damaging Het
Dpys T C 15: 39,691,486 (GRCm39) T279A possibly damaging Het
Drd4 T C 7: 140,873,854 (GRCm39) Y140H probably damaging Het
Duox1 C A 2: 122,164,211 (GRCm39) C890* probably null Het
Epha2 T A 4: 141,046,325 (GRCm39) V508E probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fahd1 A T 17: 25,068,570 (GRCm39) I169N probably damaging Het
Fgfr1 C T 8: 26,060,909 (GRCm39) S527F probably damaging Het
Flywch1 A G 17: 23,982,000 (GRCm39) V68A probably benign Het
Gm21834 A T 17: 58,049,210 (GRCm39) V2E possibly damaging Het
Gm7853 A T 14: 35,811,621 (GRCm39) noncoding transcript Het
Igf2r T A 17: 12,934,830 (GRCm39) H713L probably benign Het
Iqgap3 T C 3: 88,023,338 (GRCm39) V543A probably benign Het
Kcnq5 T A 1: 21,549,595 (GRCm39) probably null Het
Lsm1 C T 8: 26,275,712 (GRCm39) P5S possibly damaging Het
Marchf1 T C 8: 66,574,442 (GRCm39) M1T probably null Het
Myocd T C 11: 65,091,633 (GRCm39) H103R probably damaging Het
Myom2 C T 8: 15,113,927 (GRCm39) T25I probably damaging Het
Nck1 T C 9: 100,380,003 (GRCm39) K83E probably damaging Het
Nid2 A G 14: 19,839,829 (GRCm39) D806G probably benign Het
Onecut2 G T 18: 64,474,268 (GRCm39) R254L probably damaging Het
Or51k1 T A 7: 103,661,436 (GRCm39) M158L probably benign Het
Plxna1 A C 6: 89,301,298 (GRCm39) L1534R probably damaging Het
Polb C A 8: 23,130,018 (GRCm39) A185S possibly damaging Het
Pou3f3 T C 1: 42,737,651 (GRCm39) V449A probably damaging Het
Pskh1 C T 8: 106,640,145 (GRCm39) T275I probably damaging Het
Rab18 C A 18: 6,788,516 (GRCm39) A161D probably damaging Het
Rrp8 T C 7: 105,384,011 (GRCm39) R164G probably benign Het
Sacs T A 14: 61,445,208 (GRCm39) I2418K probably benign Het
Scrn1 T C 6: 54,502,631 (GRCm39) E136G probably benign Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Slitrk6 C T 14: 110,989,387 (GRCm39) A107T probably damaging Het
Spata31e2 T C 1: 26,723,783 (GRCm39) S466G probably benign Het
Tktl2 T A 8: 66,965,795 (GRCm39) F451Y probably damaging Het
Tnks1bp1 G A 2: 84,889,259 (GRCm39) V529M probably benign Het
Trps1 T C 15: 50,524,742 (GRCm39) K874E probably damaging Het
Ttll9 T A 2: 152,825,047 (GRCm39) D75E probably benign Het
Ttn A G 2: 76,596,368 (GRCm39) Y20182H probably damaging Het
Ufc1 A T 1: 171,116,821 (GRCm39) C116S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zfp809 A G 9: 22,149,976 (GRCm39) K158E possibly damaging Het
Zfp81 A G 17: 33,553,597 (GRCm39) Y406H probably damaging Het
Other mutations in Anxa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Anxa6 APN 11 54,883,189 (GRCm39) missense probably damaging 1.00
IGL02450:Anxa6 APN 11 54,885,767 (GRCm39) missense probably damaging 1.00
R0220:Anxa6 UTSW 11 54,872,588 (GRCm39) splice site probably null
R0374:Anxa6 UTSW 11 54,896,654 (GRCm39) missense probably benign 0.02
R0599:Anxa6 UTSW 11 54,870,292 (GRCm39) missense possibly damaging 0.92
R0659:Anxa6 UTSW 11 54,874,173 (GRCm39) missense probably damaging 0.99
R0924:Anxa6 UTSW 11 54,885,214 (GRCm39) splice site probably null
R0930:Anxa6 UTSW 11 54,885,214 (GRCm39) splice site probably null
R1005:Anxa6 UTSW 11 54,892,044 (GRCm39) missense possibly damaging 0.89
R1435:Anxa6 UTSW 11 54,882,236 (GRCm39) missense probably benign
R2850:Anxa6 UTSW 11 54,901,852 (GRCm39) missense possibly damaging 0.94
R4596:Anxa6 UTSW 11 54,885,409 (GRCm39) splice site probably null
R5057:Anxa6 UTSW 11 54,892,062 (GRCm39) missense possibly damaging 0.82
R5685:Anxa6 UTSW 11 54,887,196 (GRCm39) missense probably benign
R5968:Anxa6 UTSW 11 54,885,167 (GRCm39) missense probably damaging 1.00
R6145:Anxa6 UTSW 11 54,885,730 (GRCm39) missense probably damaging 0.98
R6268:Anxa6 UTSW 11 54,877,903 (GRCm39) splice site probably null
R6818:Anxa6 UTSW 11 54,870,326 (GRCm39) missense probably benign
R6864:Anxa6 UTSW 11 54,877,011 (GRCm39) missense probably benign
R7224:Anxa6 UTSW 11 54,876,993 (GRCm39) missense probably damaging 1.00
R7595:Anxa6 UTSW 11 54,875,911 (GRCm39) missense probably benign 0.00
R7740:Anxa6 UTSW 11 54,898,725 (GRCm39) missense probably damaging 1.00
R8084:Anxa6 UTSW 11 54,894,834 (GRCm39) missense probably damaging 1.00
R8507:Anxa6 UTSW 11 54,904,696 (GRCm39) missense probably benign 0.14
R8676:Anxa6 UTSW 11 54,892,108 (GRCm39) nonsense probably null
R8818:Anxa6 UTSW 11 54,902,578 (GRCm39) missense possibly damaging 0.93
R9226:Anxa6 UTSW 11 54,885,791 (GRCm39) missense probably benign 0.34
R9227:Anxa6 UTSW 11 54,898,694 (GRCm39) missense probably benign 0.03
R9757:Anxa6 UTSW 11 54,885,182 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGATGTGCTTTCTCAGTGCG -3'
(R):5'- ATTTCTGGAGGCAGACTGGG -3'

Sequencing Primer
(F):5'- AGTGCGTTTCTAACACCCAC -3'
(R):5'- GAATGCAGTCAGCTTGCATC -3'
Posted On 2014-10-30