Incidental Mutation 'IGL02343:S100a9'
ID289193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol S100a9
Ensembl Gene ENSMUSG00000056071
Gene NameS100 calcium binding protein A9 (calgranulin B)
Synonyms60B8Ag, GAGB, Cagb, p14, MRP14, BEE22, L1Ag
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL02343
Quality Score
Status
Chromosome3
Chromosomal Location90692632-90695721 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90695224 bp
ZygosityHeterozygous
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]
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
5830473C10Rik C A 5: 90,579,614 H364N probably damaging Het
Acbd5 T A 2: 23,087,495 N168K possibly damaging Het
Aig1 T C 10: 13,868,674 M29V probably damaging Het
Apba2 A G 7: 64,695,146 E28G probably damaging Het
Bglap3 T C 3: 88,369,116 N45S possibly damaging Het
Cables2 A G 2: 180,260,279 probably null Het
Cd109 A G 9: 78,688,955 probably benign Het
Cdk1 T C 10: 69,340,501 N259D probably benign Het
Ces1h A G 8: 93,352,026 *563R probably null Het
Cfap46 C T 7: 139,682,509 A115T probably damaging Het
Cry2 A T 2: 92,426,921 V101E possibly damaging Het
Cyp4a31 A G 4: 115,563,829 Y38C probably damaging Het
Dip2a T C 10: 76,319,478 Y130C probably benign Het
Eps8l1 A G 7: 4,472,124 T366A probably benign Het
Esr2 C T 12: 76,145,345 R303H probably benign Het
Fbxo41 T G 6: 85,478,171 L617F possibly damaging Het
Fbxw15 A T 9: 109,552,655 probably benign Het
Lrriq1 T A 10: 103,234,163 probably benign Het
Me1 A T 9: 86,654,641 probably null Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Muc19 T G 15: 91,894,234 noncoding transcript Het
Myo15b A G 11: 115,873,400 probably benign Het
Nav1 A T 1: 135,454,752 L1264* probably null Het
Nhlrc4 T C 17: 25,943,361 *137W probably null Het
Nrxn3 A G 12: 88,795,353 T57A probably damaging Het
Olfr1512 T A 14: 52,372,477 D192V probably damaging Het
Orc2 A T 1: 58,469,666 probably null Het
Rpap2 G A 5: 107,618,181 probably null Het
Spz1 T A 13: 92,575,546 M141L probably benign Het
Stk40 A G 4: 126,136,902 Y305C probably damaging Het
Stra6l A G 4: 45,869,588 Q218R probably damaging Het
T C A 17: 8,439,900 probably benign Het
Tep1 T C 14: 50,829,247 D2298G probably damaging Het
Trim40 A T 17: 36,889,138 L16Q probably benign Het
Tubb4a T C 17: 57,081,538 I163V probably benign Het
Vwc2 T A 11: 11,116,532 C207S probably damaging Het
Zfp407 A G 18: 84,209,724 I1920T possibly damaging Het
Zfp429 T C 13: 67,390,725 E200G probably damaging Het
Zfp451 C T 1: 33,776,493 C792Y probably damaging Het
Other mutations in S100a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:S100a9 APN 3 90692768 missense probably benign 0.23
R0748:S100a9 UTSW 3 90692891 missense possibly damaging 0.73
R4365:S100a9 UTSW 3 90692774 missense unknown
R5919:S100a9 UTSW 3 90695188 missense probably damaging 1.00
R5953:S100a9 UTSW 3 90692927 missense probably damaging 1.00
Posted On2015-04-16