Incidental Mutation 'IGL01525:S100a8'
ID 89529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol S100a8
Ensembl Gene ENSMUSG00000056054
Gene Name S100 calcium binding protein A8 (calgranulin A)
Synonyms 60B8Ag, Caga, MRP8, CFAg, CP-10, B8Ag, p8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL01525
Quality Score
Status
Chromosome 3
Chromosomal Location 90576378-90577341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90576876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 10 (S10C)
Ref Sequence ENSEMBL: ENSMUSP00000064385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069927]
AlphaFold P27005
Predicted Effect probably damaging
Transcript: ENSMUST00000069927
AA Change: S10C

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064385
Gene: ENSMUSG00000056054
AA Change: S10C

DomainStartEndE-ValueType
Pfam:S_100 5 47 1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198156
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous disruption of this gene results in complete embryonic lethality. The exact timing of lethality varies between alleles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A G 15: 74,458,684 (GRCm39) E322G probably damaging Het
Aldh8a1 A T 10: 21,267,472 (GRCm39) I286F probably damaging Het
Arnt2 T A 7: 83,924,616 (GRCm39) T404S possibly damaging Het
Asb1 A G 1: 91,479,846 (GRCm39) T190A probably damaging Het
Atp8b1 G A 18: 64,672,323 (GRCm39) R1014* probably null Het
Dgcr8 T C 16: 18,101,808 (GRCm39) D158G probably damaging Het
Dock5 A G 14: 68,043,169 (GRCm39) probably benign Het
Fras1 C T 5: 96,887,195 (GRCm39) T2659I probably damaging Het
Galt A G 4: 41,756,068 (GRCm39) T45A probably benign Het
Gtpbp3 A G 8: 71,943,078 (GRCm39) D164G probably damaging Het
Ift70b A T 2: 75,767,226 (GRCm39) M509K probably damaging Het
Kmt2c T A 5: 25,534,439 (GRCm39) probably benign Het
Lrrc59 A T 11: 94,525,522 (GRCm39) Q106L probably damaging Het
Mgat4c A G 10: 102,214,057 (GRCm39) I13M probably damaging Het
Muc19 T A 15: 91,770,877 (GRCm39) noncoding transcript Het
Myo5b C T 18: 74,873,620 (GRCm39) A1508V probably damaging Het
Or2o1 A G 11: 49,051,501 (GRCm39) Y220C probably damaging Het
Or52ad1 T A 7: 102,995,386 (GRCm39) I250F probably benign Het
Or5d39 T C 2: 87,980,221 (GRCm39) I47M probably benign Het
Plxna2 A G 1: 194,394,619 (GRCm39) E500G probably benign Het
Psme4 T A 11: 30,759,936 (GRCm39) probably benign Het
Sdk1 T C 5: 141,985,675 (GRCm39) V769A probably damaging Het
Sorbs1 G T 19: 40,338,422 (GRCm39) T326K probably damaging Het
Spata31d1b T C 13: 59,860,280 (GRCm39) I51T probably benign Het
Thumpd3 T C 6: 113,024,597 (GRCm39) S64P probably damaging Het
Ticrr T C 7: 79,332,197 (GRCm39) L843P probably damaging Het
Ttn A T 2: 76,641,108 (GRCm39) I13587N probably damaging Het
Txndc2 A G 17: 65,945,908 (GRCm39) S90P possibly damaging Het
Other mutations in S100a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1115:S100a8 UTSW 3 90,577,180 (GRCm39) missense probably damaging 1.00
R4681:S100a8 UTSW 3 90,576,890 (GRCm39) missense probably benign 0.00
R8796:S100a8 UTSW 3 90,576,865 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03