Incidental Mutation 'R4365:S100a9'
ID 325701
Institutional Source Beutler Lab
Gene Symbol S100a9
Ensembl Gene ENSMUSG00000056071
Gene Name S100 calcium binding protein A9 (calgranulin B)
Synonyms BEE22, Cagb, MRP14, L1Ag, p14, GAGB, 60B8Ag
MMRRC Submission 041113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R4365 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90599939-90603028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90600081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 105 (H105R)
Ref Sequence ENSEMBL: ENSMUSP00000112843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069960] [ENSMUST00000117167]
AlphaFold P31725
Predicted Effect unknown
Transcript: ENSMUST00000069960
AA Change: H105R
SMART Domains Protein: ENSMUSP00000070842
Gene: ENSMUSG00000056071
AA Change: H105R

DomainStartEndE-ValueType
Pfam:S_100 9 51 6.7e-23 PFAM
low complexity region 102 113 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000117167
AA Change: H105R
SMART Domains Protein: ENSMUSP00000112843
Gene: ENSMUSG00000056071
AA Change: H105R

DomainStartEndE-ValueType
Pfam:S_100 9 52 5.2e-24 PFAM
low complexity region 102 113 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob A T 12: 8,066,083 (GRCm39) I4318F possibly damaging Het
Btrc G A 19: 45,501,919 (GRCm39) D213N probably damaging Het
C4b T A 17: 34,953,717 (GRCm39) I964F possibly damaging Het
Cacna1f G T X: 7,476,213 (GRCm39) A123S probably damaging Het
Ccdc153 G A 9: 44,154,889 (GRCm39) A71T probably damaging Het
Celsr3 C A 9: 108,707,046 (GRCm39) D1176E possibly damaging Het
Cfap46 A C 7: 139,230,868 (GRCm39) V920G probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Dnajb12 T C 10: 59,715,588 (GRCm39) F30S probably damaging Het
Emilin3 T C 2: 160,750,406 (GRCm39) R401G probably benign Het
F5 A G 1: 164,012,519 (GRCm39) T478A probably damaging Het
Hspa4l C A 3: 40,721,241 (GRCm39) probably null Het
Il1rl2 G T 1: 40,390,951 (GRCm39) R298L probably benign Het
Lipo2 A T 19: 33,699,108 (GRCm39) S307R probably damaging Het
Lrit2 T A 14: 36,794,076 (GRCm39) L380Q probably damaging Het
Ncan A G 8: 70,567,861 (GRCm39) S84P probably damaging Het
Ncoa2 T C 1: 13,250,771 (GRCm39) I304V probably damaging Het
Nfe2l2 T C 2: 75,509,772 (GRCm39) D16G probably damaging Het
Nt5dc1 T C 10: 34,186,377 (GRCm39) D397G probably benign Het
Obsl1 A C 1: 75,464,693 (GRCm39) L1576R possibly damaging Het
Or5p1 A T 7: 107,916,313 (GRCm39) I71F probably benign Het
Or5v1 T C 17: 37,810,270 (GRCm39) S243P probably damaging Het
Or6c212 A G 10: 129,559,281 (GRCm39) I44T probably damaging Het
Pcdh17 A G 14: 84,685,726 (GRCm39) E731G probably damaging Het
Rag1 T A 2: 101,473,288 (GRCm39) K618M probably damaging Het
Ripor2 C T 13: 24,905,694 (GRCm39) P947S probably benign Het
Rnf150 A G 8: 83,590,744 (GRCm39) K36E probably benign Het
Spindoc T C 19: 7,351,219 (GRCm39) D246G possibly damaging Het
St8sia4 A T 1: 95,519,517 (GRCm39) Y324N possibly damaging Het
Tlr11 T A 14: 50,598,926 (GRCm39) I304N probably damaging Het
Trpm3 A G 19: 22,955,694 (GRCm39) T1090A probably benign Het
Ube4a T C 9: 44,871,379 (GRCm39) N7D probably damaging Het
Other mutations in S100a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:S100a9 APN 3 90,600,075 (GRCm39) missense probably benign 0.23
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
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
Predicted Primers PCR Primer
(F):5'- ACGGAAGGCGTACACTTCAG -3'
(R):5'- TCCTCTATTTCACCCACAGAAAGAG -3'

Sequencing Primer
(F):5'- TTTATCACTCAGAGCCTGGGAAG -3'
(R):5'- TATTTCACCCACAGAAAGAGAAGAG -3'
Posted On 2015-07-06