Incidental Mutation 'IGL01417:Anxa13'
ID80423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa13
Ensembl Gene ENSMUSG00000055114
Gene Nameannexin A13
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL01417
Quality Score
Status
Chromosome15
Chromosomal Location58341874-58364148 bp(-) (GRCm38)
Type of Mutationexon
DNA Base Change (assembly) T to A at 58356194 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000068515]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068515
SMART Domains Protein: ENSMUSP00000065295
Gene: ENSMUSG00000055114

DomainStartEndE-ValueType
ANX 27 79 1.07e-23 SMART
ANX 99 151 8.37e-26 SMART
low complexity region 192 203 N/A INTRINSIC
ANX 250 302 1.65e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227274
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. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctdsp2 T C 10: 126,993,874 I125T probably benign Het
Dnah7a T C 1: 53,584,600 K1044E probably benign Het
Edem2 T C 2: 155,728,978 Y44C probably damaging Het
Elmo1 T C 13: 20,251,175 probably null Het
Flnb T C 14: 7,905,513 S1088P probably damaging Het
Fmnl1 A G 11: 103,196,694 probably benign Het
Fv1 T A 4: 147,869,329 C117* probably null Het
Hmcn1 T C 1: 150,859,239 D174G probably damaging Het
Htatip2 G A 7: 49,770,825 V140I possibly damaging Het
Mill1 G T 7: 18,264,783 R306L probably benign Het
Myoz2 G A 3: 123,006,432 T249I possibly damaging Het
Nrd1 T C 4: 109,000,830 probably benign Het
Olfr457 T A 6: 42,472,112 H22L probably benign Het
Pcbp1 T C 6: 86,525,854 H21R probably damaging Het
Pdcd2l A C 7: 34,192,745 L221R probably damaging Het
Ppp1r3b A G 8: 35,384,412 E135G probably damaging Het
Rbsn T C 6: 92,207,119 E71G possibly damaging Het
Shc3 T C 13: 51,431,164 R472G probably benign Het
Sox8 A C 17: 25,567,528 probably null Het
Tacr3 A T 3: 134,829,546 I92F possibly damaging Het
Tacr3 G T 3: 134,829,481 W70L possibly damaging Het
Ubr4 A G 4: 139,410,800 N1156S probably damaging Het
Upk3b T C 5: 136,039,066 I37T possibly damaging Het
Vmn1r35 T A 6: 66,679,207 I160F probably benign Het
Vps50 T C 6: 3,522,377 probably benign Het
Other mutations in Anxa13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Anxa13 APN 15 58348780 exon noncoding transcript
IGL02654:Anxa13 APN 15 58342001 splice site noncoding transcript
R1572:Anxa13 UTSW 15 58348807 splice site noncoding transcript
R1973:Anxa13 UTSW 15 58356181 exon noncoding transcript
R1988:Anxa13 UTSW 15 58341948 exon noncoding transcript
R1989:Anxa13 UTSW 15 58341948 exon noncoding transcript
R2916:Anxa13 UTSW 15 58345080 intron noncoding transcript
R4504:Anxa13 UTSW 15 58356203 exon noncoding transcript
R5832:Anxa13 UTSW 15 58341993 splice site noncoding transcript
R6526:Anxa13 UTSW 15 58344957 exon noncoding transcript
Posted On2013-11-05