Incidental Mutation 'R0656:Anxa11'
ID 226152
Institutional Source Beutler Lab
Gene Symbol Anxa11
Ensembl Gene ENSMUSG00000021866
Gene Name annexin A11
Synonyms A830099O17Rik, Anx11
MMRRC Submission 038841-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R0656 (G1)
Quality Score 48
Status Validated
Chromosome 14
Chromosomal Location 25842580-25887228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25874421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 203 (D203E)
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: D203E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022416
Gene: ENSMUSG00000021866
AA Change: D203E

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000112364
AA Change: D203E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107983
Gene: ENSMUSG00000021866
AA Change: D203E

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.7955 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.2%
Validation Efficiency 98% (92/94)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T A 10: 70,704,630 (GRCm39) noncoding transcript Het
Alox5 A G 6: 116,400,291 (GRCm39) probably benign Het
Atp12a A T 14: 56,611,938 (GRCm39) N371Y probably damaging Het
Bloc1s6 A G 2: 122,584,543 (GRCm39) I39M probably benign Het
Celsr3 A C 9: 108,711,854 (GRCm39) I1688L possibly damaging Het
Cgn T C 3: 94,682,204 (GRCm39) probably benign Het
Chd4 A T 6: 125,079,930 (GRCm39) I453F probably damaging Het
Dbnl A G 11: 5,747,321 (GRCm39) T247A probably benign Het
Dpysl3 T C 18: 43,571,136 (GRCm39) E46G possibly damaging Het
Dsg1a T C 18: 20,468,949 (GRCm39) probably benign Het
Fbp1 C T 13: 63,019,099 (GRCm39) E150K probably benign Het
Flnb T A 14: 7,927,352 (GRCm38) L1854Q probably damaging Het
Gcn1 C T 5: 115,727,362 (GRCm39) T714M probably benign Het
Gm12216 A T 11: 53,704,162 (GRCm39) probably benign Het
Gpr82 T C X: 13,531,829 (GRCm39) S126P probably benign Het
Hmbs T A 9: 44,248,657 (GRCm39) H256L probably benign Het
Ibsp A T 5: 104,457,886 (GRCm39) probably null Het
Ints13 A G 6: 146,453,959 (GRCm39) V240A probably benign Het
Iqca1l C T 5: 24,754,760 (GRCm39) V337M possibly damaging Het
Kalrn T C 16: 33,852,837 (GRCm39) D343G probably damaging Het
Kin T C 2: 10,090,531 (GRCm39) probably benign Het
Klhdc1 T C 12: 69,304,804 (GRCm39) V192A probably benign Het
Lpar3 T A 3: 145,946,426 (GRCm39) C35S possibly damaging Het
Lrrtm4 A G 6: 79,998,953 (GRCm39) I122V possibly damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mgat4c T C 10: 102,224,452 (GRCm39) M222T probably damaging Het
Muc4 C A 16: 32,570,488 (GRCm39) S516Y possibly damaging Het
Myo1e A T 9: 70,274,956 (GRCm39) Q703L probably damaging Het
Neb A G 2: 52,115,570 (GRCm39) probably benign Het
Necab3 T G 2: 154,388,223 (GRCm39) E239A probably null Het
Npr1 G T 3: 90,368,676 (GRCm39) N461K probably benign Het
Or4k44 T C 2: 111,367,972 (GRCm39) I221V probably damaging Het
Pcdhb2 A G 18: 37,428,543 (GRCm39) Y172C probably damaging Het
Pcdhb7 A G 18: 37,474,954 (GRCm39) D30G probably benign Het
Phf12 A C 11: 77,920,158 (GRCm39) Q898P probably benign Het
Plekhn1 T C 4: 156,309,821 (GRCm39) E132G possibly damaging Het
Ptpn3 A G 4: 57,270,075 (GRCm39) V29A probably benign Het
Rundc3b T A 5: 8,619,529 (GRCm39) I143F probably damaging Het
Ryr3 T G 2: 112,478,651 (GRCm39) probably benign Het
Sash1 A G 10: 8,626,901 (GRCm39) probably null Het
Slc4a2 A G 5: 24,636,257 (GRCm39) D201G probably benign Het
Tecpr1 T A 5: 144,150,871 (GRCm39) probably null Het
Timm21 T C 18: 84,967,326 (GRCm39) H150R probably damaging Het
Tmem79 T C 3: 88,240,241 (GRCm39) T236A probably damaging Het
Usp34 G T 11: 23,422,967 (GRCm39) V3095F probably damaging Het
Vmn1r8 A T 6: 57,013,573 (GRCm39) Q208L probably benign Het
Other mutations in Anxa11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02194:Anxa11 APN 14 25,870,553 (GRCm39) missense unknown
twirl UTSW 14 25,873,158 (GRCm39) missense unknown
R0597:Anxa11 UTSW 14 25,874,652 (GRCm39) missense probably damaging 1.00
R0717:Anxa11 UTSW 14 25,875,213 (GRCm39) splice site probably null
R1087:Anxa11 UTSW 14 25,870,603 (GRCm39) missense unknown
R2207:Anxa11 UTSW 14 25,874,721 (GRCm39) missense probably damaging 1.00
R5041:Anxa11 UTSW 14 25,875,188 (GRCm39) nonsense probably null
R6298:Anxa11 UTSW 14 25,873,158 (GRCm39) missense unknown
R6416:Anxa11 UTSW 14 25,874,694 (GRCm39) missense possibly damaging 0.74
R6944:Anxa11 UTSW 14 25,875,176 (GRCm39) missense probably damaging 0.99
R7389:Anxa11 UTSW 14 25,873,312 (GRCm39) missense probably damaging 0.99
R7760:Anxa11 UTSW 14 25,873,251 (GRCm39) nonsense probably null
R8881:Anxa11 UTSW 14 25,874,687 (GRCm39) missense probably damaging 1.00
X0005:Anxa11 UTSW 14 25,874,714 (GRCm39) missense probably benign 0.03
Z1177:Anxa11 UTSW 14 25,870,600 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CACCACATTGACCCGTGAACCTTG -3'
(R):5'- ATCTGCTGACGCTGCTTGTTGGAC -3'

Sequencing Primer
(F):5'- GTCCAGTGCTTTTGATTTCCTG -3'
(R):5'- AGTCGATGATGGCCTGCTC -3'
Posted On 2014-09-17