Incidental Mutation 'R9435:S100a3'
ID 713218
Institutional Source Beutler Lab
Gene Symbol S100a3
Ensembl Gene ENSMUSG00000001021
Gene Name S100 calcium binding protein A3
Synonyms S100E
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R9435 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90491966-90510009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90509502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 49 (E49G)
Ref Sequence ENSEMBL: ENSMUSP00000001047 (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: E49G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001047
Gene: ENSMUSG00000001021
AA Change: E49G

DomainStartEndE-ValueType
Pfam:S_100 5 46 4e-19 PFAM
Blast:EFh 54 82 2e-6 BLAST
Predicted Effect
SMART Domains Protein: ENSMUSP00000102953
Gene: ENSMUSG00000105518
AA Change: E9G

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 probably benign
Transcript: ENSMUST00000200290
AA Change: E49G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142334
Gene: ENSMUSG00000001021
AA Change: E49G

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: E49G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142747
Gene: ENSMUSG00000001021
AA Change: E49G

DomainStartEndE-ValueType
Pfam:S_100 5 48 1.9e-20 PFAM
Blast:EFh 54 82 2e-6 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,562 (GRCm39) D1134E probably benign Het
Abca5 C T 11: 110,182,911 (GRCm39) probably null Het
Acp2 A G 2: 91,036,409 (GRCm39) T169A probably damaging Het
Agtpbp1 A T 13: 59,622,429 (GRCm39) N932K probably benign Het
Aldh5a1 G A 13: 25,121,293 (GRCm39) R87C probably damaging Het
Bpifa1 G T 2: 153,985,843 (GRCm39) A53S unknown Het
Cacna2d2 T C 9: 107,396,384 (GRCm39) I667T probably benign Het
Catsperg1 T A 7: 28,889,751 (GRCm39) T784S probably benign Het
Ccdc93 C T 1: 121,369,584 (GRCm39) Q109* probably null Het
Cd46 C G 1: 194,767,720 (GRCm39) D114H probably damaging Het
Cd82 A T 2: 93,267,740 (GRCm39) L19Q probably damaging Het
Celsr1 T C 15: 85,806,535 (GRCm39) probably benign Het
Cnksr1 A G 4: 133,961,885 (GRCm39) I180T possibly damaging Het
Drg2 T C 11: 60,358,966 (GRCm39) V362A probably benign Het
Eef2 T A 10: 81,014,994 (GRCm39) M231K probably benign Het
Egr2 T C 10: 67,375,628 (GRCm39) Y75H probably damaging Het
Exoc6 A C 19: 37,585,545 (GRCm39) Q473H probably benign Het
Focad T A 4: 88,267,076 (GRCm39) M1029K unknown Het
Fpr-rs4 T A 17: 18,242,391 (GRCm39) S133T probably benign Het
Gbf1 T C 19: 46,268,432 (GRCm39) V1322A probably benign Het
Gm572 T C 4: 148,752,966 (GRCm39) S282P possibly damaging Het
Gm7579 GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG 7: 141,765,782 (GRCm39) probably benign Het
Golph3l T C 3: 95,496,369 (GRCm39) V31A probably benign Het
Iars2 A T 1: 185,034,913 (GRCm39) V610D probably damaging Het
Igsf6 T A 7: 120,666,472 (GRCm39) I203F probably damaging Het
Ildr2 A G 1: 166,136,691 (GRCm39) Y510C probably damaging Het
Iqcf4 C A 9: 106,445,652 (GRCm39) R165L possibly damaging Het
Itgb1bp1 T G 12: 21,320,943 (GRCm39) I183L possibly damaging Het
Itgb4 A C 11: 115,895,855 (GRCm39) S1414R probably benign Het
Kbtbd7 G T 14: 79,664,944 (GRCm39) A259S probably benign Het
Kif14 T A 1: 136,401,174 (GRCm39) D508E possibly damaging Het
Klc2 A T 19: 5,159,662 (GRCm39) D484E possibly damaging Het
Lamc2 T C 1: 153,013,072 (GRCm39) S630G probably benign Het
Myl6b G A 10: 128,331,066 (GRCm39) T125M possibly damaging Het
Nbea T A 3: 55,943,309 (GRCm39) K655N possibly damaging Het
Nkx3-2 T C 5: 41,919,493 (GRCm39) D165G probably benign Het
Npy A T 6: 49,804,481 (GRCm39) R67S probably damaging Het
Nrg3 A T 14: 39,194,556 (GRCm39) C68S possibly damaging Het
Nup160 C T 2: 90,560,138 (GRCm39) P1288S probably damaging Het
Or52e15 T C 7: 104,645,946 (GRCm39) H55R probably benign Het
Or8g33 A G 9: 39,337,506 (GRCm39) L287P probably benign Het
Pam T A 1: 97,822,144 (GRCm39) I287L probably benign Het
Phf10 T C 17: 15,165,387 (GRCm39) R490G probably benign Het
Prim2 T C 1: 33,523,876 (GRCm39) Y345C probably damaging Het
Ptchd3 C T 11: 121,721,646 (GRCm39) A173V probably benign Het
Rab8b G A 9: 66,755,912 (GRCm39) R167W probably damaging Het
Slc41a1 T A 1: 131,766,896 (GRCm39) V138E probably damaging Het
Slit1 C A 19: 41,591,764 (GRCm39) probably null Het
Sntg1 T A 1: 8,433,814 (GRCm39) H479L probably damaging Het
Stam T A 2: 14,120,801 (GRCm39) C72S probably damaging Het
Sval2 G T 6: 41,840,795 (GRCm39) A93S probably benign Het
Tas2r103 T A 6: 133,013,686 (GRCm39) K127* probably null Het
Trank1 C T 9: 111,193,890 (GRCm39) T638M probably benign Het
Utrn T A 10: 12,519,173 (GRCm39) I2260F probably damaging Het
Zfp268 G C 4: 145,349,045 (GRCm39) E161Q Het
Zfp280d T C 9: 72,226,599 (GRCm39) probably null Het
Other mutations in S100a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02299:S100a3 APN 3 90,509,562 (GRCm39) missense possibly damaging 0.51
R1587:S100a3 UTSW 3 90,509,618 (GRCm39) missense probably benign 0.30
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
Predicted Primers PCR Primer
(F):5'- GCAGCATAGGGTAGCACATG -3'
(R):5'- CTGGGATAGCGTACACCTTTG -3'

Sequencing Primer
(F):5'- TAGCACATGAGCTGAGACAC -3'
(R):5'- AGCGTACACCTTTGGATCAG -3'
Posted On 2022-05-16