Incidental Mutation 'R7024:S100a3'
ID568369
Institutional Source Beutler Lab
Gene Symbol S100a3
Ensembl Gene ENSMUSG00000001021
Gene NameS100 calcium binding protein A3
SynonymsS100E
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #R7024 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location90560578-90602702 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 90602440 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001046] [ENSMUST00000001047] [ENSMUST00000142476] [ENSMUST00000200290] [ENSMUST00000200508]
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
SMART Domains Protein: ENSMUSP00000001047
Gene: ENSMUSG00000001021

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

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 null
Transcript: ENSMUST00000200290
SMART Domains Protein: ENSMUSP00000142334
Gene: ENSMUSG00000001021

DomainStartEndE-ValueType
Pfam:S_100 5 48 1.9e-20 PFAM
Blast:EFh 54 82 2e-6 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000200508
SMART Domains Protein: ENSMUSP00000142747
Gene: ENSMUSG00000001021

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (61/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A G 16: 88,627,220 S128P probably damaging Het
Abcc1 G C 16: 14,413,383 probably null Het
Armc4 A C 18: 7,211,593 D760E probably benign Het
Atg2a G A 19: 6,250,219 G686S possibly damaging Het
Atrnl1 A T 19: 57,638,450 probably null Het
Brd4 T C 17: 32,221,910 probably benign Het
C77080 T A 4: 129,225,408 E173V probably null Het
Camsap3 A G 8: 3,608,242 E688G probably damaging Het
Cc2d2a T A 5: 43,733,929 S1402R probably benign Het
Ccnb1 A G 13: 100,786,380 probably null Het
Cdc42bpb G A 12: 111,326,085 H339Y probably damaging Het
Ciart T A 3: 95,879,080 T94S probably benign Het
Col6a5 T A 9: 105,912,475 K1540* probably null Het
Csmd3 A T 15: 47,710,991 V1969E probably damaging Het
Dgka T G 10: 128,720,487 N710T probably damaging Het
Dock6 A G 9: 21,820,370 V1212A probably benign Het
En1 C T 1: 120,603,322 P97L unknown Het
Esd T A 14: 74,744,662 F172L probably damaging Het
Gfer C A 17: 24,695,968 D34Y probably damaging Het
Gm2832 G A 14: 41,279,739 M68I Het
Hmgcr A G 13: 96,658,910 S384P probably benign Het
Hsp90aa1 T C 12: 110,694,112 T299A possibly damaging Het
Igsf10 A G 3: 59,331,701 M353T probably benign Het
Ino80b T C 6: 83,122,325 T211A probably benign Het
Lamb2 C A 9: 108,489,488 T1607K probably benign Het
Lhfpl5 A G 17: 28,582,983 E218G probably benign Het
Lpo C A 11: 87,816,443 C248F probably damaging Het
Lrrc3 C T 10: 77,900,991 D204N probably damaging Het
Mavs C A 2: 131,243,131 L160I probably benign Het
Morn4 C T 19: 42,078,044 D35N possibly damaging Het
Mroh8 G A 2: 157,221,263 H813Y probably benign Het
Myf6 T C 10: 107,494,529 E59G probably damaging Het
Nlrp10 T A 7: 108,925,198 E358D possibly damaging Het
Olfr1009 T A 2: 85,721,608 F68I probably damaging Het
Olfr107 T C 17: 37,406,204 F219L probably benign Het
Olfr1120 A G 2: 87,357,722 T93A probably benign Het
Olfr396-ps1 T A 11: 73,928,506 L94* probably null Het
Olfr525 T C 7: 140,322,846 I49T possibly damaging Het
Olfr846 T C 9: 19,361,283 E24G possibly damaging Het
Optn T C 2: 5,052,837 probably null Het
Plxna4 T A 6: 32,192,269 H1331L probably damaging Het
Poli A T 18: 70,516,849 M357K possibly damaging Het
Psd4 T G 2: 24,394,543 C140G possibly damaging Het
Rab3gap1 T A 1: 127,891,098 probably null Het
Rasa3 T C 8: 13,631,826 N41S probably benign Het
Rps6kc1 A G 1: 190,800,210 S532P probably benign Het
Sfrp5 T C 19: 42,201,765 K83E possibly damaging Het
Slco1a4 T C 6: 141,834,708 I119V probably benign Het
Snx15 T A 19: 6,120,596 Q271L probably damaging Het
Sorcs2 C A 5: 36,021,261 S1128I probably damaging Het
Tbc1d7 A T 13: 43,154,735 F85I probably damaging Het
Thoc7 A G 14: 13,953,528 Y46H probably damaging Het
Top1mt T A 15: 75,667,448 Y366F probably damaging Het
Trpv2 C A 11: 62,584,461 S233R probably benign Het
Vav1 C A 17: 57,279,268 T24N probably damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Wdfy4 G T 14: 32,964,626 probably null Het
Wdr3 A G 3: 100,154,997 S201P probably benign Het
Wdr34 A G 2: 30,038,266 V116A possibly damaging Het
Wfs1 C T 5: 36,966,950 D866N probably damaging Het
Wnk1 A T 6: 119,965,726 probably benign Het
Xpot G T 10: 121,602,399 Q762K probably benign Het
Zfp287 A T 11: 62,714,938 L370H possibly damaging Het
Other mutations in S100a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02299:S100a3 APN 3 90602255 missense possibly damaging 0.51
R1587:S100a3 UTSW 3 90602311 missense probably benign 0.30
R5480:S100a3 UTSW 3 90602284 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CGAAGTGGACTTTGGGGAGTAC -3'
(R):5'- TCCCAGTTGTGTGCACATGG -3'

Sequencing Primer
(F):5'- AGTACGTGCGCTCACTTG -3'
(R):5'- GAGATGTTCTTCCCTTCCAAGAAGAG -3'
Posted On2019-07-10