Incidental Mutation 'R3921:Anxa8'
ID 315750
Institutional Source Beutler Lab
Gene Symbol Anxa8
Ensembl Gene ENSMUSG00000021950
Gene Name annexin A8
Synonyms Anx8
MMRRC Submission 040818-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3921 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 33807938-33822528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33816403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 201 (F201L)
Ref Sequence ENSEMBL: ENSMUSP00000022519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022519] [ENSMUST00000120077] [ENSMUST00000178958]
AlphaFold O35640
Predicted Effect probably damaging
Transcript: ENSMUST00000022519
AA Change: F201L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022519
Gene: ENSMUSG00000021950
AA Change: F201L

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
SMART Domains Protein: ENSMUSP00000113662
Gene: ENSMUSG00000021950

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,498 (GRCm39) L317Q probably damaging Het
Aebp2 C T 6: 140,579,461 (GRCm39) R11C probably damaging Het
Armh4 A G 14: 50,011,659 (GRCm39) F16S probably benign Het
Bcl7a A G 5: 123,509,136 (GRCm39) N206S probably benign Het
Birc6 A G 17: 74,934,014 (GRCm39) N2542D probably damaging Het
Cubn A G 2: 13,331,488 (GRCm39) Y2562H probably damaging Het
Dnah12 C G 14: 26,493,008 (GRCm39) D1256E probably damaging Het
Dnajb14 A T 3: 137,610,613 (GRCm39) R280S probably damaging Het
Dop1a A T 9: 86,402,324 (GRCm39) I1173F probably benign Het
Fam228a T C 12: 4,781,506 (GRCm39) T118A probably benign Het
Gata2 TGCCATGGGCTAGGCAAGCC TGCC 6: 88,182,464 (GRCm39) probably null Het
Hif3a T C 7: 16,771,097 (GRCm39) D618G possibly damaging Het
Ighv1-43 C A 12: 114,909,772 (GRCm39) G50V probably benign Het
Lrrc37a G T 11: 103,392,296 (GRCm39) T1043N probably benign Het
Masp2 T A 4: 148,690,188 (GRCm39) D232E possibly damaging Het
Ms4a4a A C 19: 11,356,172 (GRCm39) Q19P probably benign Het
Nckipsd A G 9: 108,691,275 (GRCm39) E399G possibly damaging Het
Nnt T A 13: 119,503,030 (GRCm39) T572S probably damaging Het
Olig3 A G 10: 19,232,423 (GRCm39) D16G probably damaging Het
Or4a74 C T 2: 89,439,853 (GRCm39) V198I probably benign Het
Or5p57 T A 7: 107,665,108 (GRCm39) D299V possibly damaging Het
Polr2b T C 5: 77,474,500 (GRCm39) Y446H probably damaging Het
Prtg T C 9: 72,755,629 (GRCm39) V277A probably damaging Het
Rnf31 T C 14: 55,838,599 (GRCm39) Y857H probably damaging Het
Serac1 T C 17: 6,117,067 (GRCm39) D163G probably damaging Het
Slc22a22 C A 15: 57,119,940 (GRCm39) V197F probably benign Het
Slc2a10 C T 2: 165,357,521 (GRCm39) P394S probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
St7 A G 6: 17,846,244 (GRCm39) N120D probably benign Het
Sult2a6 C T 7: 13,988,668 (GRCm39) V31M possibly damaging Het
Taf3 T C 2: 10,053,109 (GRCm39) T35A probably benign Het
Tmem131l A G 3: 83,847,908 (GRCm39) I319T possibly damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l T TTGGATG 15: 10,537,649 (GRCm39) probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Vmn2r9 T G 5: 108,996,921 (GRCm39) Y116S probably benign Het
Vstm2l A G 2: 157,777,283 (GRCm39) T54A probably benign Het
Xrn1 T A 9: 95,851,337 (GRCm39) M153K probably benign Het
Zfp106 G A 2: 120,364,097 (GRCm39) P770L probably damaging Het
Other mutations in Anxa8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Anxa8 APN 14 33,821,700 (GRCm39) missense probably benign 0.33
IGL01335:Anxa8 APN 14 33,811,547 (GRCm39) missense probably damaging 1.00
IGL02131:Anxa8 APN 14 33,812,588 (GRCm39) missense possibly damaging 0.90
IGL02675:Anxa8 APN 14 33,815,371 (GRCm39) missense probably damaging 0.98
IGL02887:Anxa8 APN 14 33,818,481 (GRCm39) splice site probably null
R0095:Anxa8 UTSW 14 33,808,028 (GRCm39) missense probably benign 0.19
R0095:Anxa8 UTSW 14 33,808,028 (GRCm39) missense probably benign 0.19
R0138:Anxa8 UTSW 14 33,819,897 (GRCm39) missense possibly damaging 0.54
R0138:Anxa8 UTSW 14 33,819,896 (GRCm39) missense probably benign 0.01
R0452:Anxa8 UTSW 14 33,816,727 (GRCm39) missense probably damaging 1.00
R1586:Anxa8 UTSW 14 33,815,894 (GRCm39) missense probably damaging 1.00
R1727:Anxa8 UTSW 14 33,811,547 (GRCm39) missense probably damaging 1.00
R1982:Anxa8 UTSW 14 33,818,527 (GRCm39) missense probably damaging 1.00
R2141:Anxa8 UTSW 14 33,813,873 (GRCm39) critical splice donor site probably null
R4803:Anxa8 UTSW 14 33,814,579 (GRCm39) critical splice donor site probably null
R5372:Anxa8 UTSW 14 33,815,868 (GRCm39) missense probably damaging 1.00
R6349:Anxa8 UTSW 14 33,819,850 (GRCm39) missense probably damaging 0.98
R6823:Anxa8 UTSW 14 33,816,722 (GRCm39) missense possibly damaging 0.88
R6837:Anxa8 UTSW 14 33,814,511 (GRCm39) missense probably damaging 1.00
R8079:Anxa8 UTSW 14 33,816,769 (GRCm39) missense probably benign 0.00
R8405:Anxa8 UTSW 14 33,819,881 (GRCm39) missense probably damaging 0.96
R9301:Anxa8 UTSW 14 33,819,932 (GRCm39) missense probably damaging 1.00
R9570:Anxa8 UTSW 14 33,814,509 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TACTCAGTGCTCCCAGAGAC -3'
(R):5'- AAGGTCTCCATGGCTCTCTC -3'

Sequencing Primer
(F):5'- TTCTAAAGAAGCTGATGGCCC -3'
(R):5'- TCCCCAAGTCTAAGCTGCTTAAG -3'
Posted On 2015-05-15