Incidental Mutation 'R0095:Anxa8'
ID17956
Institutional Source Beutler Lab
Gene Symbol Anxa8
Ensembl Gene ENSMUSG00000021950
Gene Nameannexin A8
SynonymsAnx8
MMRRC Submission 038381-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0095 (G1)
Quality Score
Status Validated
Chromosome14
Chromosomal Location34085981-34100571 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 34086071 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 6 (A6T)
Ref Sequence ENSEMBL: ENSMUSP00000113662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022519] [ENSMUST00000120077] [ENSMUST00000178958]
Predicted Effect probably benign
Transcript: ENSMUST00000022519
AA Change: A6T

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022519
Gene: ENSMUSG00000021950
AA Change: A6T

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 benign
Transcript: ENSMUST00000120077
AA Change: A6T

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113662
Gene: ENSMUSG00000021950
AA Change: A6T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227780
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 88.6%
  • 3x: 85.1%
  • 10x: 74.3%
  • 20x: 56.3%
Validation Efficiency 88% (50/57)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 T C 1: 9,560,177 I317T possibly damaging Het
Aldh3a2 C T 11: 61,250,948 G21D probably damaging Het
Alms1 C A 6: 85,620,253 T1156N possibly damaging Het
Arhgef4 C T 1: 34,732,370 Q86* probably null Het
Atp4a T A 7: 30,720,735 I769N probably damaging Het
Cacnb2 G T 2: 14,958,775 V61F probably damaging Het
Clcf1 T G 19: 4,215,788 probably benign Het
Cmah G T 13: 24,436,685 A301S probably benign Het
Col6a4 A G 9: 106,075,356 W448R probably benign Het
Csmd1 A T 8: 16,233,051 D630E probably damaging Het
Dock10 A T 1: 80,524,071 Y1434N probably benign Het
Etl4 A G 2: 20,743,868 D137G probably damaging Het
Fer A T 17: 63,941,326 E361V possibly damaging Het
Foxp2 C A 6: 15,196,977 A6E probably damaging Het
Gpr3 T A 4: 133,211,286 D25V probably benign Het
Gstm7 A T 3: 107,930,563 probably benign Het
Gys1 T C 7: 45,444,649 V332A possibly damaging Het
Igsf10 A T 3: 59,331,196 Y521* probably null Het
Itk T C 11: 46,342,452 D266G probably damaging Het
Kdm1a C T 4: 136,550,894 R839H probably benign Het
Lypla1 T C 1: 4,830,327 probably benign Het
Mmp1a G A 9: 7,465,620 G186D possibly damaging Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Necab1 T A 4: 14,960,027 N307Y possibly damaging Het
Olfr510 A C 7: 108,668,045 I210L probably benign Het
Plekha5 T C 6: 140,528,597 F84L probably damaging Het
Plxnb2 A G 15: 89,165,331 S562P probably benign Het
Rfx8 C T 1: 39,685,536 V222M possibly damaging Het
Rpap3 A G 15: 97,680,536 probably benign Het
Rpl6 T G 5: 121,205,839 V115G possibly damaging Het
Sec16a A T 2: 26,425,760 probably null Het
Sema3d T C 5: 12,563,347 Y464H probably damaging Het
Sgo2a T A 1: 58,015,555 N299K probably benign Het
Tecrl T C 5: 83,294,570 probably benign Het
Thsd7a T C 6: 12,320,970 T1569A probably damaging Het
U2surp T C 9: 95,500,684 probably null Het
Unc45a T C 7: 80,329,543 D567G probably damaging Het
Zfp532 A G 18: 65,624,784 Y596C probably damaging 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
IGL02675:Anxa8 APN 14 34093414 missense probably damaging 0.98
IGL02887:Anxa8 APN 14 34096524 splice site probably null
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
R8079:Anxa8 UTSW 14 34094812 missense probably benign 0.00
Posted On2013-03-25