Incidental Mutation 'R6416:Anxa11'
ID 517957
Institutional Source Beutler Lab
Gene Symbol Anxa11
Ensembl Gene ENSMUSG00000021866
Gene Name annexin A11
Synonyms A830099O17Rik, Anx11
MMRRC Submission 044558-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R6416 (G1)
Quality Score 130.008
Status Validated
Chromosome 14
Chromosomal Location 25842156-25886804 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25874270 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 235 (Q235R)
Ref Sequence ENSEMBL: ENSMUSP00000107983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022416] [ENSMUST00000112364]
AlphaFold P97384
Predicted Effect possibly damaging
Transcript: ENSMUST00000022416
AA Change: Q235R

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022416
Gene: ENSMUSG00000021866
AA Change: Q235R

low complexity region 3 31 N/A INTRINSIC
low complexity region 73 175 N/A INTRINSIC
ANX 215 267 7.18e-25 SMART
ANX 287 339 7.57e-24 SMART
ANX 371 423 1.35e-20 SMART
ANX 446 498 1.89e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112364
AA Change: Q235R

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107983
Gene: ENSMUSG00000021866
AA Change: Q235R

low complexity region 3 31 N/A INTRINSIC
low complexity region 73 175 N/A INTRINSIC
ANX 215 267 7.18e-25 SMART
ANX 287 339 7.57e-24 SMART
Pfam:Annexin 357 392 1.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184083
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.4%
  • 20x: 94.6%
Validation Efficiency 99% (67/68)
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, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik C A 16: 88,707,891 (GRCm38) R6L unknown Het
Ap2b1 T A 11: 83,308,239 (GRCm38) M1K probably null Het
Atl2 G A 17: 79,850,223 (GRCm38) T563I probably benign Het
Azin1 A T 15: 38,492,343 (GRCm38) S307R possibly damaging Het
Ccdc153 A G 9: 44,245,780 (GRCm38) T118A probably benign Het
Chac1 G A 2: 119,353,534 (GRCm38) V206I probably damaging Het
Chrm3 A G 13: 9,877,662 (GRCm38) V446A probably benign Het
Cped1 T C 6: 22,123,649 (GRCm38) F467S probably damaging Het
Csmd3 G A 15: 48,673,560 (GRCm38) P82L probably damaging Het
Ddx60 T A 8: 61,977,950 (GRCm38) S840T probably benign Het
Ddx60 C T 8: 61,998,681 (GRCm38) H1202Y probably benign Het
Dnah8 T A 17: 30,765,635 (GRCm38) N3102K probably benign Het
Dst A T 1: 34,116,128 (GRCm38) K85M probably damaging Het
Ehbp1l1 T C 19: 5,718,757 (GRCm38) I839M probably benign Het
Fam184b T A 5: 45,537,653 (GRCm38) M750L probably benign Het
Frem2 T C 3: 53,572,378 (GRCm38) T1965A probably benign Het
Ftl1 A T 7: 45,459,210 (GRCm38) D41E probably benign Het
Garem2 G A 5: 30,116,737 (GRCm38) W698* probably null Het
Glt8d2 T C 10: 82,652,906 (GRCm38) Y283C probably damaging Het
Hars T C 18: 36,773,590 (GRCm38) E109G possibly damaging Het
Hspb9 T C 11: 100,714,210 (GRCm38) S121P probably damaging Het
Hus1b A T 13: 30,947,205 (GRCm38) L157Q probably damaging Het
Hykk A G 9: 54,946,359 (GRCm38) M322V probably benign Het
Igkv4-61 C A 6: 69,417,154 (GRCm38) A31S possibly damaging Het
Il17f T A 1: 20,777,907 (GRCm38) M116L probably benign Het
Kif22 T C 7: 127,028,932 (GRCm38) K9E possibly damaging Het
Krt90 T C 15: 101,559,244 (GRCm38) E233G probably benign Het
Lipg T C 18: 74,957,236 (GRCm38) M81V probably benign Het
Mocos C T 18: 24,701,456 (GRCm38) S850L probably damaging Het
Mug2 T A 6: 122,082,754 (GRCm38) S1364T probably damaging Het
Neb A T 2: 52,185,328 (GRCm38) N208K probably benign Het
Oca2 G T 7: 56,328,767 (GRCm38) R561L probably benign Het
Olfm5 A G 7: 104,154,053 (GRCm38) L401P probably damaging Het
Olfr109 T A 17: 37,467,080 (GRCm38) Y291* probably null Het
Olfr1238 C A 2: 89,406,522 (GRCm38) A186S possibly damaging Het
Olfr331 T C 11: 58,502,340 (GRCm38) D72G probably damaging Het
Olfr828 G A 9: 18,815,892 (GRCm38) T134M probably benign Het
Olfr952 T A 9: 39,426,891 (GRCm38) Y60F probably damaging Het
Oxgr1 T C 14: 120,022,448 (GRCm38) N116D probably damaging Het
Pcdha11 G T 18: 37,012,169 (GRCm38) probably null Het
Pi4ka T C 16: 17,358,322 (GRCm38) I418V probably benign Het
Pih1d2 T C 9: 50,618,609 (GRCm38) V62A probably benign Het
Pkib T A 10: 57,728,138 (GRCm38) V46E probably damaging Het
Pum1 A G 4: 130,728,287 (GRCm38) probably null Het
Rbak G T 5: 143,176,552 (GRCm38) Q19K possibly damaging Het
Sema3c A G 5: 17,576,961 (GRCm38) T32A probably damaging Het
Shprh T C 10: 11,167,873 (GRCm38) W835R probably damaging Het
Sis T G 3: 72,911,854 (GRCm38) K1456N probably damaging Het
Slc4a4 A T 5: 89,179,729 (GRCm38) N675I probably benign Het
Slc8a3 C A 12: 81,315,627 (GRCm38) M139I probably damaging Het
Sorcs3 T C 19: 48,802,759 (GRCm38) F1182S probably damaging Het
St8sia2 A T 7: 73,971,921 (GRCm38) I96N probably damaging Het
Stx19 T C 16: 62,822,057 (GRCm38) S79P probably damaging Het
Tecta C T 9: 42,375,267 (GRCm38) V698M probably damaging Het
Timm22 T C 11: 76,411,139 (GRCm38) S150P probably damaging Het
Tjp1 C T 7: 65,313,205 (GRCm38) D995N possibly damaging Het
Tmem135 T A 7: 89,147,794 (GRCm38) T365S probably benign Het
Tmem174 T C 13: 98,636,981 (GRCm38) T114A probably benign Het
Tnc A G 4: 64,007,816 (GRCm38) I909T probably benign Het
Trcg1 A G 9: 57,241,330 (GRCm38) I62V possibly damaging Het
Tulp1 A T 17: 28,356,031 (GRCm38) *487K probably null Het
Unc79 T A 12: 103,131,646 (GRCm38) V1826E possibly damaging Het
Vmn2r13 A T 5: 109,174,116 (GRCm38) N238K probably damaging Het
Vmn2r22 T A 6: 123,637,738 (GRCm38) N298Y probably damaging Het
Vmn2r23 T A 6: 123,712,902 (GRCm38) F246I probably damaging Het
Vps9d1 A C 8: 123,248,639 (GRCm38) V194G probably damaging Het
Zfp260 A T 7: 30,104,810 (GRCm38) H45L possibly damaging Het
Zfp846 A T 9: 20,593,720 (GRCm38) H292L possibly damaging Het
Other mutations in Anxa11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02194:Anxa11 APN 14 25,870,129 (GRCm38) missense unknown
twirl UTSW 14 25,872,734 (GRCm38) missense unknown
R0597:Anxa11 UTSW 14 25,874,228 (GRCm38) missense probably damaging 1.00
R0656:Anxa11 UTSW 14 25,873,997 (GRCm38) missense probably damaging 1.00
R0717:Anxa11 UTSW 14 25,874,789 (GRCm38) splice site probably null
R1087:Anxa11 UTSW 14 25,870,179 (GRCm38) missense unknown
R2207:Anxa11 UTSW 14 25,874,297 (GRCm38) missense probably damaging 1.00
R5041:Anxa11 UTSW 14 25,874,764 (GRCm38) nonsense probably null
R6298:Anxa11 UTSW 14 25,872,734 (GRCm38) missense unknown
R6944:Anxa11 UTSW 14 25,874,752 (GRCm38) missense probably damaging 0.99
R7389:Anxa11 UTSW 14 25,872,888 (GRCm38) missense probably damaging 0.99
R7760:Anxa11 UTSW 14 25,872,827 (GRCm38) nonsense probably null
R8881:Anxa11 UTSW 14 25,874,263 (GRCm38) missense probably damaging 1.00
X0005:Anxa11 UTSW 14 25,874,290 (GRCm38) missense probably benign 0.03
Z1177:Anxa11 UTSW 14 25,870,176 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-24