Incidental Mutation 'IGL02194:Anxa11'
ID 284004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa11
Ensembl Gene ENSMUSG00000021866
Gene Name annexin A11
Synonyms A830099O17Rik, Anx11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # IGL02194
Quality Score
Status
Chromosome 14
Chromosomal Location 25842580-25887228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25870553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 39 (D39G)
Ref Sequence ENSEMBL: ENSMUSP00000107983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022416] [ENSMUST00000112364]
AlphaFold P97384
Predicted Effect unknown
Transcript: ENSMUST00000022416
AA Change: D39G
SMART Domains Protein: ENSMUSP00000022416
Gene: ENSMUSG00000021866
AA Change: D39G

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 unknown
Transcript: ENSMUST00000112364
AA Change: D39G
SMART Domains Protein: ENSMUSP00000107983
Gene: ENSMUSG00000021866
AA Change: D39G

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,828,812 (GRCm39) Q230* probably null Het
Akap5 C T 12: 76,374,807 (GRCm39) P80S probably damaging Het
Akap6 T A 12: 52,933,606 (GRCm39) M366K probably benign Het
Ankef1 T A 2: 136,392,429 (GRCm39) D539E probably benign Het
Atp13a4 G T 16: 29,275,447 (GRCm39) H346N probably damaging Het
Btnl1 A C 17: 34,598,509 (GRCm39) T42P possibly damaging Het
Cul3 T A 1: 80,300,754 (GRCm39) Y29F probably benign Het
Dcun1d4 A G 5: 73,638,544 (GRCm39) probably benign Het
Det1 A T 7: 78,489,912 (GRCm39) V371E probably benign Het
Duoxa2 C A 2: 122,132,330 (GRCm39) A248D possibly damaging Het
Ehbp1l1 A T 19: 5,768,885 (GRCm39) I806K probably benign Het
Fam76b G T 9: 13,744,274 (GRCm39) G124W probably damaging Het
Fhl5 T C 4: 25,211,341 (GRCm39) E117G probably benign Het
Ighv15-2 T C 12: 114,528,341 (GRCm39) I70V probably damaging Het
Iqca1 T C 1: 89,973,385 (GRCm39) T768A probably benign Het
Itih1 A C 14: 30,652,322 (GRCm39) D786E probably benign Het
Krt15 A G 11: 100,022,839 (GRCm39) probably benign Het
Lgals9 T A 11: 78,857,746 (GRCm39) probably null Het
Map3k4 G T 17: 12,467,882 (GRCm39) Q1051K probably benign Het
Map3k4 G T 17: 12,482,815 (GRCm39) P634H probably damaging Het
Mettl21e T C 1: 44,250,343 (GRCm39) D21G probably benign Het
Mre11a T C 9: 14,726,505 (GRCm39) S423P possibly damaging Het
Mzf1 T A 7: 12,777,647 (GRCm39) T665S possibly damaging Het
Or4c111 T C 2: 88,844,231 (GRCm39) Y59C probably damaging Het
Or7c19 T A 8: 85,957,262 (GRCm39) I46N possibly damaging Het
Otx2 A T 14: 48,898,850 (GRCm39) V52D possibly damaging Het
Rnf157 C T 11: 116,237,858 (GRCm39) probably null Het
Ssxa1 T A X: 20,987,394 (GRCm39) I115N unknown Het
Ube2q2l T C 6: 136,378,056 (GRCm39) Q258R probably benign Het
Other mutations in Anxa11
AlleleSourceChrCoordTypePredicted EffectPPH Score
twirl UTSW 14 25,873,158 (GRCm39) missense unknown
R0597:Anxa11 UTSW 14 25,874,652 (GRCm39) missense probably damaging 1.00
R0656:Anxa11 UTSW 14 25,874,421 (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
Posted On 2015-04-16