Incidental Mutation 'R5480:S100a3'
ID 434250
Institutional Source Beutler Lab
Gene Symbol S100a3
Ensembl Gene ENSMUSG00000001021
Gene Name S100 calcium binding protein A3
Synonyms S100E
MMRRC Submission 043041-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R5480 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90491966-90510009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90509591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 79 (L79F)
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 damaging
Transcript: ENSMUST00000001047
AA Change: L79F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001047
Gene: ENSMUSG00000001021
AA Change: L79F

DomainStartEndE-ValueType
Pfam:S_100 5 46 4e-19 PFAM
Blast:EFh 54 82 2e-6 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000107330
AA Change: L39F
SMART Domains Protein: ENSMUSP00000102953
Gene: ENSMUSG00000105518
AA Change: L39F

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 damaging
Transcript: ENSMUST00000200290
AA Change: L79F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142334
Gene: ENSMUSG00000001021
AA Change: L79F

DomainStartEndE-ValueType
Pfam:S_100 5 48 1.9e-20 PFAM
Blast:EFh 54 82 2e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000200508
AA Change: L79F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142747
Gene: ENSMUSG00000001021
AA Change: L79F

DomainStartEndE-ValueType
Pfam:S_100 5 48 1.9e-20 PFAM
Blast:EFh 54 82 2e-6 BLAST
Meta Mutation Damage Score 0.1551 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.7%
Validation Efficiency 97% (56/58)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh7 A G 17: 57,306,131 (GRCm39) probably benign Het
Alpk2 A G 18: 65,482,979 (GRCm39) L343S probably damaging Het
Btbd10 T A 7: 112,915,914 (GRCm39) R392W probably damaging Het
Camkv A G 9: 107,824,074 (GRCm39) D216G probably damaging Het
Col22a1 T C 15: 71,836,460 (GRCm39) D525G probably damaging Het
Dqx1 A T 6: 83,041,784 (GRCm39) D542V probably damaging Het
Epha8 T C 4: 136,662,441 (GRCm39) T539A probably benign Het
Faap100 T C 11: 120,267,939 (GRCm39) E278G probably damaging Het
Fat2 A G 11: 55,200,912 (GRCm39) S721P probably damaging Het
Fcgbpl1 T A 7: 27,857,424 (GRCm39) C2257* probably null Het
Frem2 A T 3: 53,563,928 (GRCm39) L193* probably null Het
Gfy C A 7: 44,826,657 (GRCm39) V394F probably benign Het
Gipr A G 7: 18,894,579 (GRCm39) L241P probably damaging Het
Gm5478 A G 15: 101,552,100 (GRCm39) S445P probably damaging Het
Ift140 G T 17: 25,239,550 (GRCm39) W69L probably damaging Het
Kat6a T A 8: 23,428,323 (GRCm39) M1226K possibly damaging Het
Klk12 T G 7: 43,420,482 (GRCm39) H140Q probably benign Het
Map3k14 A G 11: 103,130,330 (GRCm39) F196L probably benign Het
Mblac2 T A 13: 81,898,395 (GRCm39) V257E possibly damaging Het
Pcdha11 A G 18: 37,138,935 (GRCm39) E188G probably benign Het
Pdzd7 T C 19: 45,027,724 (GRCm39) N250S possibly damaging Het
Phkb A G 8: 86,648,811 (GRCm39) D209G probably damaging Het
Pigs T G 11: 78,219,901 (GRCm39) I92S possibly damaging Het
Pigz G T 16: 31,763,439 (GRCm39) G166C probably damaging Het
Pkd1l2 C A 8: 117,757,388 (GRCm39) R1550L probably damaging Het
Pkd2l1 A G 19: 44,180,595 (GRCm39) V40A probably benign Het
Plxna1 A T 6: 89,301,616 (GRCm39) M1470K probably damaging Het
Polq T A 16: 36,833,652 (GRCm39) probably benign Het
Prune2 A G 19: 17,098,311 (GRCm39) T1272A possibly damaging Het
Rfwd3 A T 8: 112,000,464 (GRCm39) D720E probably damaging Het
Rgs12 C G 5: 35,123,455 (GRCm39) Q413E probably benign Het
Rhobtb1 T A 10: 69,106,563 (GRCm39) V376D possibly damaging Het
Rrp8 C T 7: 105,383,336 (GRCm39) S310N probably damaging Het
Setbp1 C A 18: 78,901,278 (GRCm39) M796I probably damaging Het
Sipa1 A G 19: 5,709,658 (GRCm39) L254P possibly damaging Het
Slc4a7 C G 14: 14,782,138 (GRCm38) H964Q probably damaging Het
Strc G T 2: 121,195,300 (GRCm39) P1661Q probably benign Het
Taf5l A T 8: 124,736,559 (GRCm39) V4E possibly damaging Het
Tbc1d15 T C 10: 115,069,123 (GRCm39) E82G probably damaging Het
Thada A G 17: 84,739,682 (GRCm39) S858P probably benign Het
Ticrr T C 7: 79,310,557 (GRCm39) V157A probably damaging Het
Trim21 T C 7: 102,208,463 (GRCm39) T419A probably benign Het
Vmn2r60 G T 7: 41,785,154 (GRCm39) W122L probably damaging Het
Vwa3b C A 1: 37,139,787 (GRCm39) Y369* probably null Het
Ythdf3 T C 3: 16,237,664 (GRCm39) S2P possibly damaging 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
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'- AATGGGGCAGCCTAACCATC -3'
(R):5'- ACTTGGCAAGTCTAGATTGAAAGGG -3'

Sequencing Primer
(F):5'- AGCCTAACCATCGGAGGG -3'
(R):5'- CACAGAGAGAGTGGGAAGGGTG -3'
Posted On 2016-10-06