Incidental Mutation 'R1587:S100a3'
ID 177550
Institutional Source Beutler Lab
Gene Symbol S100a3
Ensembl Gene ENSMUSG00000001021
Gene Name S100 calcium binding protein A3
Synonyms S100E
MMRRC Submission 039624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1587 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90491966-90510009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90509618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 88 (E88K)
Ref Sequence ENSEMBL: ENSMUSP00000142747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001046] [ENSMUST00000001047] [ENSMUST00000142476] [ENSMUST00000200290] [ENSMUST00000200508]
AlphaFold P62818
Predicted Effect probably benign
Transcript: ENSMUST00000001046
SMART Domains Protein: ENSMUSP00000001046
Gene: ENSMUSG00000001020

DomainStartEndE-ValueType
Pfam:S_100 5 48 2.1e-23 PFAM
Blast:EFh 54 82 6e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000001047
AA Change: E88K

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000001047
Gene: ENSMUSG00000001021
AA Change: E88K

DomainStartEndE-ValueType
Pfam:S_100 5 46 4e-19 PFAM
Blast:EFh 54 82 2e-6 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000107330
AA Change: E48K
SMART Domains Protein: ENSMUSP00000102953
Gene: ENSMUSG00000105518
AA Change: E48K

DomainStartEndE-ValueType
Pfam:S_100 5 47 4.3e-23 PFAM
Blast:EFh 54 82 6e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000142476
SMART Domains Protein: ENSMUSP00000143522
Gene: ENSMUSG00000001020

DomainStartEndE-ValueType
Pfam:S_100 5 47 1.9e-20 PFAM
Blast:EFh 54 78 2e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196635
Predicted Effect probably benign
Transcript: ENSMUST00000200290
AA Change: E88K

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142334
Gene: ENSMUSG00000001021
AA Change: E88K

DomainStartEndE-ValueType
Pfam:S_100 5 48 1.9e-20 PFAM
Blast:EFh 54 82 2e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000200508
AA Change: E88K

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142747
Gene: ENSMUSG00000001021
AA Change: E88K

DomainStartEndE-ValueType
Pfam:S_100 5 48 1.9e-20 PFAM
Blast:EFh 54 82 2e-6 BLAST
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
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 has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,585 (GRCm39) S111T probably benign Het
Abhd2 A T 7: 79,003,758 (GRCm39) H279L probably benign Het
Ablim1 C T 19: 57,071,979 (GRCm39) M1I probably null Het
Agrn T C 4: 156,263,897 (GRCm39) Q122R probably damaging Het
Arfgef1 A T 1: 10,230,184 (GRCm39) F1218I probably damaging Het
Bud13 C T 9: 46,201,513 (GRCm39) P395S probably damaging Het
Ccdc110 G A 8: 46,394,783 (GRCm39) V225M probably benign Het
Ccdc30 A T 4: 119,210,373 (GRCm39) S248T probably damaging Het
Cdh20 C A 1: 110,027,757 (GRCm39) Q501K probably damaging Het
Cwc27 T C 13: 104,929,145 (GRCm39) D266G probably benign Het
Cyp2d40 T A 15: 82,645,334 (GRCm39) probably null Het
Cyp4a32 T G 4: 115,467,731 (GRCm39) N238K probably benign Het
Ddx11 T C 17: 66,456,251 (GRCm39) L770P probably damaging Het
Dgcr8 C T 16: 18,098,155 (GRCm39) G412E probably damaging Het
Disp2 C A 2: 118,622,064 (GRCm39) A932D probably damaging Het
Dlg4 T A 11: 69,922,572 (GRCm39) N291K possibly damaging Het
Dnajc7 A G 11: 100,492,556 (GRCm39) I39T probably damaging Het
Elp1 G A 4: 56,786,666 (GRCm39) Q426* probably null Het
Eno3 T C 11: 70,552,296 (GRCm39) V316A probably damaging Het
Ep400 G A 5: 110,874,768 (GRCm39) T944I probably benign Het
Ezh2 T G 6: 47,529,424 (GRCm39) probably null Het
F7 A T 8: 13,084,783 (GRCm39) I270F possibly damaging Het
Fancc A G 13: 63,488,246 (GRCm39) F245L probably benign Het
Fzd7 G A 1: 59,522,165 (GRCm39) C16Y possibly damaging Het
Gm29394 A G 15: 57,892,008 (GRCm39) *200Q probably null Het
Ints8 A G 4: 11,245,722 (GRCm39) probably null Het
Krt36 A T 11: 99,993,128 (GRCm39) I449N probably damaging Het
Ldlr A T 9: 21,649,209 (GRCm39) H328L probably damaging Het
Limk2 T C 11: 3,303,455 (GRCm39) N101S possibly damaging Het
Lrp4 A G 2: 91,306,650 (GRCm39) N321S probably benign Het
Mafk T C 5: 139,785,900 (GRCm39) S33P probably damaging Het
Mbtps1 T C 8: 120,244,958 (GRCm39) Y831C probably damaging Het
Mfge8 T A 7: 78,784,513 (GRCm39) I344F probably damaging Het
Myo5b T C 18: 74,867,061 (GRCm39) V1430A probably benign Het
Nbas G A 12: 13,608,686 (GRCm39) R2154H probably benign Het
Nlrp6 G A 7: 140,502,959 (GRCm39) R355H probably damaging Het
Noc4l T C 5: 110,800,889 (GRCm39) T76A probably benign Het
Nrp1 T A 8: 129,202,763 (GRCm39) C583S probably damaging Het
Or2w4 C T 13: 21,796,083 (GRCm39) D19N probably benign Het
Or5d35 T A 2: 87,855,477 (GRCm39) M137K probably damaging Het
Pgm5 T A 19: 24,793,113 (GRCm39) I318F probably damaging Het
Phf1 T A 17: 27,156,466 (GRCm39) V536D probably damaging Het
Prpf4b C A 13: 35,076,133 (GRCm39) A641D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm47 A G 5: 66,182,334 (GRCm39) I433T probably benign Het
Resf1 G T 6: 149,228,018 (GRCm39) V355F probably damaging Het
Sesn1 A G 10: 41,687,108 (GRCm39) I31V probably benign Het
Son T A 16: 91,456,606 (GRCm39) S1784R probably damaging Het
Srbd1 G T 17: 86,292,865 (GRCm39) D901E probably damaging Het
St8sia6 C T 2: 13,677,416 (GRCm39) D134N possibly damaging Het
Synpo2 T A 3: 122,908,047 (GRCm39) D423V probably damaging Het
Vmn2r108 A G 17: 20,692,383 (GRCm39) S158P probably damaging Het
Vmn2r109 A T 17: 20,761,002 (GRCm39) V785E probably damaging Het
Zfp143 A G 7: 109,673,275 (GRCm39) D124G probably benign Het
Zfp251 A G 15: 76,754,484 (GRCm39) L54P probably damaging Het
Zfp324 G T 7: 12,704,570 (GRCm39) S253I possibly damaging Het
Zfp59 A G 7: 27,553,559 (GRCm39) E337G possibly damaging Het
Zfp663 G T 2: 165,195,437 (GRCm39) Q261K probably benign Het
Zhx3 T C 2: 160,623,613 (GRCm39) probably null Het
Other mutations in S100a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02299:S100a3 APN 3 90,509,562 (GRCm39) missense possibly damaging 0.51
R5480:S100a3 UTSW 3 90,509,591 (GRCm39) missense probably damaging 0.97
R7024:S100a3 UTSW 3 90,509,747 (GRCm39) splice site probably null
R9435:S100a3 UTSW 3 90,509,502 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGGAATGGGGCAGCCTAACCATC -3'
(R):5'- CTTCCCTTCCAAGAAGAGAAGCGG -3'

Sequencing Primer
(F):5'- GGGAAGCTACTTTGGCTCC -3'
(R):5'- GTTAGCACATCAAGAACTTGGC -3'
Posted On 2014-04-24