Incidental Mutation 'IGL02343:S100a9'
ID 289193
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 # IGL02343
Quality Score
Status
Chromosome 3
Chromosomal Location 90599939-90603028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90602531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 21 (H21R)
Ref Sequence ENSEMBL: ENSMUSP00000112843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069960] [ENSMUST00000117167]
AlphaFold P31725
Predicted Effect probably damaging
Transcript: ENSMUST00000069960
AA Change: H21R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070842
Gene: ENSMUSG00000056071
AA Change: H21R

DomainStartEndE-ValueType
Pfam:S_100 9 51 6.7e-23 PFAM
low complexity region 102 113 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117167
AA Change: H21R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112843
Gene: ENSMUSG00000056071
AA Change: H21R

DomainStartEndE-ValueType
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 T A 2: 22,977,507 (GRCm39) N168K possibly damaging Het
Aig1 T C 10: 13,744,418 (GRCm39) M29V probably damaging Het
Albfm1 C A 5: 90,727,473 (GRCm39) H364N probably damaging Het
Apba2 A G 7: 64,344,894 (GRCm39) E28G probably damaging Het
Bglap3 T C 3: 88,276,423 (GRCm39) N45S possibly damaging Het
Cables2 A G 2: 179,902,072 (GRCm39) probably null Het
Cd109 A G 9: 78,596,237 (GRCm39) probably benign Het
Cdk1 T C 10: 69,176,331 (GRCm39) N259D probably benign Het
Ces1h A G 8: 94,078,654 (GRCm39) *563R probably null Het
Cfap46 C T 7: 139,262,425 (GRCm39) A115T probably damaging Het
Cry2 A T 2: 92,257,266 (GRCm39) V101E possibly damaging Het
Cyp4a31 A G 4: 115,421,026 (GRCm39) Y38C probably damaging Het
Dip2a T C 10: 76,155,312 (GRCm39) Y130C probably benign Het
Eps8l1 A G 7: 4,475,123 (GRCm39) T366A probably benign Het
Esr2 C T 12: 76,192,119 (GRCm39) R303H probably benign Het
Fbxo41 T G 6: 85,455,153 (GRCm39) L617F possibly damaging Het
Fbxw15 A T 9: 109,381,723 (GRCm39) probably benign Het
Lrriq1 T A 10: 103,070,024 (GRCm39) probably benign Het
Me1 A T 9: 86,536,694 (GRCm39) probably null Het
Moxd1 G A 10: 24,155,762 (GRCm39) V289I probably damaging Het
Muc19 T G 15: 91,778,428 (GRCm39) noncoding transcript Het
Myo15b A G 11: 115,764,226 (GRCm39) probably benign Het
Nav1 A T 1: 135,382,490 (GRCm39) L1264* probably null Het
Nhlrc4 T C 17: 26,162,335 (GRCm39) *137W probably null Het
Nrxn3 A G 12: 88,762,123 (GRCm39) T57A probably damaging Het
Or10g3 T A 14: 52,609,934 (GRCm39) D192V probably damaging Het
Orc2 A T 1: 58,508,825 (GRCm39) probably null Het
Rpap2 G A 5: 107,766,047 (GRCm39) probably null Het
Spz1 T A 13: 92,712,054 (GRCm39) M141L probably benign Het
Stk40 A G 4: 126,030,695 (GRCm39) Y305C probably damaging Het
Stra6l A G 4: 45,869,588 (GRCm39) Q218R probably damaging Het
T C A 17: 8,658,732 (GRCm39) probably benign Het
Tep1 T C 14: 51,066,704 (GRCm39) D2298G probably damaging Het
Trim40 A T 17: 37,200,030 (GRCm39) L16Q probably benign Het
Tubb4a T C 17: 57,388,538 (GRCm39) I163V probably benign Het
Vwc2 T A 11: 11,066,532 (GRCm39) C207S probably damaging Het
Zfp407 A G 18: 84,227,849 (GRCm39) I1920T possibly damaging Het
Zfp429 T C 13: 67,538,844 (GRCm39) E200G probably damaging Het
Zfp451 C T 1: 33,815,574 (GRCm39) C792Y probably damaging Het
Other mutations in S100a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:S100a9 APN 3 90,600,075 (GRCm39) missense probably benign 0.23
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