Incidental Mutation 'IGL02675:Anxa8'
ID303071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa8
Ensembl Gene ENSMUSG00000021950
Gene Nameannexin A8
SynonymsAnx8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02675
Quality Score
Status
Chromosome14
Chromosomal Location34085981-34100571 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34093414 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 150 (D150G)
Ref Sequence ENSEMBL: ENSMUSP00000113662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022519] [ENSMUST00000120077] [ENSMUST00000178958]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022519
AA Change: D150G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022519
Gene: ENSMUSG00000021950
AA Change: D150G

DomainStartEndE-ValueType
ANX 38 90 6.69e-25 SMART
ANX 110 162 5.57e-22 SMART
ANX 195 247 1.12e-17 SMART
ANX 270 322 9.26e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120077
AA Change: D150G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113662
Gene: ENSMUSG00000021950
AA Change: D150G

DomainStartEndE-ValueType
ANX 38 90 6.69e-25 SMART
ANX 110 162 5.57e-22 SMART
ANX 165 221 4.14e-1 SMART
ANX 244 296 9.26e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215823
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a floxed allele activated in all cells exhibit impaired leukocyte rolling flux and adhesion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,483,540 I204T probably damaging Het
Arel1 T C 12: 84,930,228 T438A probably damaging Het
Asphd1 T C 7: 126,946,834 probably benign Het
Bcl2l12 A T 7: 44,991,400 probably benign Het
Cand1 A G 10: 119,219,697 I87T probably damaging Het
Ccdc80 A C 16: 45,116,332 T707P probably damaging Het
Cdh9 T A 15: 16,849,076 probably null Het
Chrd T C 16: 20,739,949 probably benign Het
Cpn1 T C 19: 43,980,930 Q98R probably benign Het
D630045J12Rik A G 6: 38,195,485 S583P possibly damaging Het
Dnah7a A G 1: 53,504,024 I2329T possibly damaging Het
Egln3 A G 12: 54,203,210 S118P probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Hapln3 C T 7: 79,117,848 probably null Het
Heatr3 T C 8: 88,144,557 F180L possibly damaging Het
Herc2 T A 7: 56,164,101 S2661T probably damaging Het
Hook3 A T 8: 26,061,434 L126Q possibly damaging Het
Hoxd8 T G 2: 74,706,586 L214R probably damaging Het
Ifna1 T G 4: 88,850,433 L116R probably damaging Het
Il31ra T A 13: 112,524,352 T487S probably benign Het
Kifc2 C T 15: 76,662,979 R252W probably damaging Het
Meox2 A G 12: 37,178,334 D290G probably damaging Het
Micu2 A G 14: 57,945,377 probably benign Het
Myh9 T C 15: 77,788,930 T406A possibly damaging Het
Naip1 T A 13: 100,409,118 M1301L probably benign Het
Pbrm1 T C 14: 31,106,287 L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,283,959 A194E probably benign Het
Pdcd10 G A 3: 75,527,594 T130I probably damaging Het
Pprc1 G A 19: 46,063,507 G491D probably damaging Het
Prss57 A G 10: 79,787,475 V46A probably benign Het
Ptcd3 A G 6: 71,883,442 probably null Het
Riok1 C T 13: 38,050,243 P262S probably damaging Het
Rnf13 A G 3: 57,779,396 N70S probably benign Het
Skint7 T A 4: 111,981,981 D157E probably benign Het
Sri T C 5: 8,067,534 F191S probably damaging Het
Stat5b T C 11: 100,787,374 R638G probably benign Het
Suds3 C T 5: 117,094,905 probably null Het
Tmem19 A G 10: 115,342,573 L281P probably damaging Het
Tmf1 A G 6: 97,164,042 probably benign Het
Trio A G 15: 27,768,039 probably benign Het
Usp28 T C 9: 49,039,091 I940T possibly damaging Het
Wisp3 A G 10: 39,151,240 V332A possibly damaging Het
Zfp280d T A 9: 72,312,222 I227K probably benign Het
Zfp335 A G 2: 164,910,689 V45A probably benign Het
Other mutations in Anxa8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Anxa8 APN 14 34099743 missense probably benign 0.33
IGL01335:Anxa8 APN 14 34089590 missense probably damaging 1.00
IGL02131:Anxa8 APN 14 34090631 missense possibly damaging 0.90
IGL02887:Anxa8 APN 14 34096524 splice site probably null
R0095:Anxa8 UTSW 14 34086071 missense probably benign 0.19
R0095:Anxa8 UTSW 14 34086071 missense probably benign 0.19
R0138:Anxa8 UTSW 14 34097939 missense probably benign 0.01
R0138:Anxa8 UTSW 14 34097940 missense possibly damaging 0.54
R0452:Anxa8 UTSW 14 34094770 missense probably damaging 1.00
R1586:Anxa8 UTSW 14 34093937 missense probably damaging 1.00
R1727:Anxa8 UTSW 14 34089590 missense probably damaging 1.00
R1982:Anxa8 UTSW 14 34096570 missense probably damaging 1.00
R2141:Anxa8 UTSW 14 34091916 critical splice donor site probably null
R3921:Anxa8 UTSW 14 34094446 missense probably damaging 1.00
R4803:Anxa8 UTSW 14 34092622 critical splice donor site probably null
R5372:Anxa8 UTSW 14 34093911 missense probably damaging 1.00
R6349:Anxa8 UTSW 14 34097893 missense probably damaging 0.98
R6823:Anxa8 UTSW 14 34094765 missense possibly damaging 0.88
R6837:Anxa8 UTSW 14 34092554 missense probably damaging 1.00
Posted On2015-04-16