Incidental Mutation 'IGL02136:S100a9'
ID 281339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol S100a9
Ensembl Gene ENSMUSG00000056071
Gene Name S100 calcium binding protein A9 (calgranulin B)
Synonyms BEE22, Cagb, MRP14, L1Ag, p14, GAGB, 60B8Ag
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02136
Quality Score
Chromosome 3
Chromosomal Location 90599939-90603028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90600075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 107 (H107R)
Ref Sequence ENSEMBL: ENSMUSP00000112843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069960] [ENSMUST00000117167]
AlphaFold P31725
Predicted Effect probably benign
Transcript: ENSMUST00000069960
AA Change: H107R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070842
Gene: ENSMUSG00000056071
AA Change: H107R

Pfam:S_100 9 51 6.7e-23 PFAM
low complexity region 102 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117167
AA Change: H107R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112843
Gene: ENSMUSG00000056071
AA Change: H107R

Pfam:S_100 9 52 5.2e-24 PFAM
low complexity region 102 113 N/A INTRINSIC
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 altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for one null allele exhibit abnormal immune physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,286,301 (GRCm39) T2511K probably damaging Het
Acta2 T A 19: 34,229,230 (GRCm39) D53V probably damaging Het
Banf1 G A 19: 5,415,098 (GRCm39) A71V probably benign Het
Cacng5 A T 11: 107,772,557 (GRCm39) I97N probably benign Het
Clec14a T A 12: 58,315,415 (GRCm39) E69V probably damaging Het
Cracr2a T C 6: 127,606,893 (GRCm39) probably benign Het
Dysf A G 6: 84,085,149 (GRCm39) R845G probably benign Het
Dzip3 T C 16: 48,747,945 (GRCm39) N949S possibly damaging Het
Eprs1 T G 1: 185,117,180 (GRCm39) W408G probably damaging Het
Fgf14 G A 14: 124,217,784 (GRCm39) P240S possibly damaging Het
Fpgt G T 3: 154,798,989 (GRCm39) A2E probably benign Het
Galntl5 T A 5: 25,425,060 (GRCm39) S392R probably benign Het
Gatd1 A G 7: 140,988,873 (GRCm39) *221Q probably null Het
Gcsam T A 16: 45,430,896 (GRCm39) M1K probably null Het
Ksr2 A G 5: 117,754,959 (GRCm39) N351S possibly damaging Het
Map1a T C 2: 121,130,693 (GRCm39) V503A probably damaging Het
Myl12a T A 17: 71,303,851 (GRCm39) K9* probably null Het
Ncapg2 A T 12: 116,424,203 (GRCm39) M1129L probably benign Het
Or11g2 T C 14: 50,855,708 (GRCm39) S10P possibly damaging Het
Or8k41 T C 2: 86,313,809 (GRCm39) I92M probably damaging Het
Otof T C 5: 30,531,336 (GRCm39) K1691E possibly damaging Het
Pdk4 A T 6: 5,486,715 (GRCm39) M353K probably damaging Het
Pkhd1 A T 1: 20,345,839 (GRCm39) W2730R probably damaging Het
Pkn2 T A 3: 142,559,351 (GRCm39) K58I probably damaging Het
Plk5 T C 10: 80,199,001 (GRCm39) probably null Het
Prkcq T C 2: 11,265,479 (GRCm39) F399L probably benign Het
Ptprz1 G A 6: 22,972,821 (GRCm39) V244M probably damaging Het
Rpusd2 T C 2: 118,868,659 (GRCm39) F361L probably damaging Het
Rttn T A 18: 89,064,252 (GRCm39) L1168I possibly damaging Het
Serpinb3a T A 1: 106,974,015 (GRCm39) M299L probably benign Het
Slfn8 G A 11: 82,894,291 (GRCm39) Q783* probably null Het
Smc3 T C 19: 53,624,147 (GRCm39) I721T probably benign Het
Top2b C A 14: 16,407,103 (GRCm38) probably benign Het
Uvssa T A 5: 33,549,192 (GRCm39) W351R probably damaging Het
Vmn2r107 G T 17: 20,595,168 (GRCm39) V574L probably benign Het
Wdr3 G A 3: 100,046,041 (GRCm39) R931* probably null Het
Other mutations in S100a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02343:S100a9 APN 3 90,602,531 (GRCm39) missense probably damaging 1.00
R0748:S100a9 UTSW 3 90,600,198 (GRCm39) missense possibly damaging 0.73
R4365:S100a9 UTSW 3 90,600,081 (GRCm39) missense unknown
R5919:S100a9 UTSW 3 90,602,495 (GRCm39) missense probably damaging 1.00
R5953:S100a9 UTSW 3 90,600,234 (GRCm39) missense probably damaging 1.00
R9658:S100a9 UTSW 3 90,600,081 (GRCm39) missense unknown
Posted On 2015-04-16