Incidental Mutation 'R1115:S100a8'
ID 97133
Institutional Source Beutler Lab
Gene Symbol S100a8
Ensembl Gene ENSMUSG00000056054
Gene Name S100 calcium binding protein A8 (calgranulin A)
Synonyms 60B8Ag, Caga, MRP8, CFAg, CP-10, B8Ag, p8
MMRRC Submission 039188-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R1115 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90576378-90577341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90577180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 59 (D59G)
Ref Sequence ENSEMBL: ENSMUSP00000064385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069927]
AlphaFold P27005
Predicted Effect probably damaging
Transcript: ENSMUST00000069927
AA Change: D59G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064385
Gene: ENSMUSG00000056054
AA Change: D59G

DomainStartEndE-ValueType
Pfam:S_100 5 47 1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198156
Meta Mutation Damage Score 0.8044 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 100% (34/34)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C A 11: 100,370,081 (GRCm39) V994F probably damaging Het
Arfgap3 T C 15: 83,214,741 (GRCm39) T182A probably benign Het
Bcl2l14 T C 6: 134,409,102 (GRCm39) probably benign Het
Cabin1 T C 10: 75,553,511 (GRCm39) M1183V possibly damaging Het
Ccr7 A T 11: 99,036,103 (GRCm39) I273K possibly damaging Het
Cd40 A G 2: 164,912,681 (GRCm39) M211V possibly damaging Het
Coro2b T G 9: 62,338,609 (GRCm39) E208A probably damaging Het
Dennd5a A C 7: 109,517,968 (GRCm39) M556R probably damaging Het
Efcab2 A T 1: 178,265,062 (GRCm39) probably benign Het
Fastkd2 T C 1: 63,787,114 (GRCm39) probably benign Het
Fbxw8 A C 5: 118,215,636 (GRCm39) probably benign Het
Fhip1a T C 3: 85,629,802 (GRCm39) E263G probably benign Het
Frem1 T C 4: 82,939,007 (GRCm39) D25G probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Ift52 A G 2: 162,871,702 (GRCm39) K178R probably benign Het
Kit T C 5: 75,810,192 (GRCm39) probably benign Het
Map1a T C 2: 121,137,859 (GRCm39) probably null Het
Mxra7 G T 11: 116,701,696 (GRCm39) probably benign Het
Myt1 C A 2: 181,453,024 (GRCm39) S7* probably null Het
Nphs1 C T 7: 30,180,803 (GRCm39) probably benign Het
Or10h28 C T 17: 33,487,940 (GRCm39) R81* probably null Het
Or1l8 C A 2: 36,817,514 (GRCm39) G204V possibly damaging Het
Osgin2 A T 4: 15,998,085 (GRCm39) D512E possibly damaging Het
Pde4b T A 4: 102,399,352 (GRCm39) probably benign Het
Rasef G T 4: 73,666,841 (GRCm39) T146K possibly damaging Het
Ren1 T A 1: 133,284,256 (GRCm39) V207D probably damaging Het
Sdcbp G A 4: 6,377,143 (GRCm39) probably null Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slamf7 A T 1: 171,466,751 (GRCm39) D151E probably benign Het
Slco1b2 A G 6: 141,628,980 (GRCm39) M561V probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stard9 T C 2: 120,523,331 (GRCm39) I662T probably benign Het
Vwf T A 6: 125,632,028 (GRCm39) V20D unknown Het
Znhit6 G T 3: 145,300,440 (GRCm39) probably null Het
Other mutations in S100a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:S100a8 APN 3 90,576,876 (GRCm39) missense probably damaging 0.98
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
Predicted Primers PCR Primer
(F):5'- CAATGCCGTCTGAACTGGAGAAGG -3'
(R):5'- ACAGCATCCGTTTGCCTAGAATCC -3'

Sequencing Primer
(F):5'- AATGGTCACTACTGAGTGTCC -3'
(R):5'- ACCACTGGTTCAAAGTTCAGG -3'
Posted On 2014-01-05