Incidental Mutation 'R7462:S100a5'
ID578491
Institutional Source Beutler Lab
Gene Symbol S100a5
Ensembl Gene ENSMUSG00000001023
Gene NameS100 calcium binding protein A5
SynonymsS100D9
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7462 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location90608523-90611780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90609900 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 26 (K26R)
Ref Sequence ENSEMBL: ENSMUSP00000001049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001046] [ENSMUST00000001049] [ENSMUST00000001051] [ENSMUST00000107329] [ENSMUST00000142476] [ENSMUST00000198128] [ENSMUST00000200289]
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: ENSMUST00000001049
AA Change: K26R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001049
Gene: ENSMUSG00000001023
AA Change: K26R

DomainStartEndE-ValueType
Pfam:S_100 5 43 1.7e-18 PFAM
Blast:EFh 52 80 2e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000001051
SMART Domains Protein: ENSMUSP00000001051
Gene: ENSMUSG00000001025

DomainStartEndE-ValueType
Pfam:S_100 5 43 4.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107329
AA Change: K26R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102952
Gene: ENSMUSG00000001023
AA Change: K26R

DomainStartEndE-ValueType
Pfam:S_100 5 45 6.1e-20 PFAM
Blast:EFh 52 80 2e-10 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 benign
Transcript: ENSMUST00000198128
SMART Domains Protein: ENSMUSP00000143111
Gene: ENSMUSG00000001025

DomainStartEndE-ValueType
Pfam:S_100 5 44 8.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200289
SMART Domains Protein: ENSMUSP00000143720
Gene: ENSMUSG00000001025

DomainStartEndE-ValueType
Pfam:S_100 5 43 4.6e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (60/61)
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 a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This protein is expressed in very restricted regions of the adult brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are indistinguishable from wild-type littermates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 G C 3: 126,943,034 T3067S unknown Het
Ankrd28 T C 14: 31,778,929 N35S probably benign Het
Bicra A T 7: 15,979,135 S996T possibly damaging Het
Btbd7 T C 12: 102,837,722 E353G possibly damaging Het
Ccdc144b T A 3: 36,025,906 probably null Het
Cdhr2 A T 13: 54,726,739 I875F probably damaging Het
Ceacam5 A T 7: 17,760,839 Y924F probably damaging Het
Clca4b A G 3: 144,922,860 I362T probably benign Het
Dchs2 A G 3: 83,346,155 probably null Het
Dlc1 T A 8: 36,937,964 T224S unknown Het
Dmxl2 T C 9: 54,366,632 probably null Het
Dnajc1 A G 2: 18,308,899 F137S probably damaging Het
E130311K13Rik T C 3: 63,929,301 T24A probably benign Het
Eya1 T C 1: 14,231,414 E317G probably null Het
Fpr-rs6 A G 17: 20,182,223 L292P probably damaging Het
Gca G T 2: 62,672,409 D54Y possibly damaging Het
Gm45861 G A 8: 27,534,489 probably null Het
Gm9573 T C 17: 35,620,676 S873G unknown Het
Gtf2a1l A G 17: 88,694,138 T141A possibly damaging Het
Hgsnat T C 8: 25,957,213 N351S probably benign Het
Htr1f A T 16: 64,926,020 V303E probably damaging Het
Iars2 C A 1: 185,322,866 W302L probably damaging Het
Igkv4-74 T A 6: 69,185,116 Q23L possibly damaging Het
Il18 A T 9: 50,565,373 probably benign Het
Ints4 A G 7: 97,506,128 D329G probably benign Het
Itsn1 T C 16: 91,853,185 F249S possibly damaging Het
Ktn1 A G 14: 47,694,632 E672G probably null Het
Lhx6 A G 2: 36,084,071 I359T possibly damaging Het
Lrp1b T C 2: 41,113,029 E2030G Het
Macf1 T A 4: 123,492,763 K1114N probably damaging Het
Mbd5 A G 2: 49,257,880 M701V possibly damaging Het
Mcemp1 A T 8: 3,667,065 M69L probably benign Het
Mfsd4b2 T A 10: 39,921,881 K159N probably benign Het
Mroh2b T A 15: 4,908,627 D243E probably damaging Het
Mug1 A T 6: 121,875,440 Q829L probably benign Het
Nav3 A T 10: 109,823,578 V726E probably damaging Het
Nfib T C 4: 82,353,589 Q247R probably benign Het
Npbwr1 T C 1: 5,916,932 N121S probably damaging Het
Olfr187 A T 16: 59,036,016 C240* probably null Het
Olfr378 T C 11: 73,425,470 D171G probably benign Het
Olfr691 T A 7: 105,337,500 D72V probably damaging Het
Pkd1l3 A G 8: 109,628,777 S726G probably benign Het
Ppip5k1 A T 2: 121,336,751 V847D probably damaging Het
Ptpn18 G A 1: 34,473,364 D417N possibly damaging Het
Ripor2 G A 13: 24,696,307 V385M unknown Het
Rufy1 C T 11: 50,407,828 V379M possibly damaging Het
Sin3a T C 9: 57,095,525 S234P probably benign Het
Sirt7 G A 11: 120,620,792 T225I probably benign Het
Slc17a2 A T 13: 23,822,418 T476S probably damaging Het
Slc38a6 T A 12: 73,350,577 M331K probably benign Het
Spam1 T C 6: 24,796,908 I286T probably damaging Het
Syne1 T A 10: 5,052,793 I214F possibly damaging Het
Tmtc1 A G 6: 148,325,145 L427P probably damaging Het
Tpbg G A 9: 85,844,850 A291T possibly damaging Het
Zfp40 A G 17: 23,178,388 F45S possibly damaging Het
Zfp451 C T 1: 33,777,013 V619M probably damaging Het
Zim1 A G 7: 6,677,812 L284P probably damaging Het
Zkscan4 A G 13: 21,483,874 E165G probably benign Het
Zmynd11 T A 13: 9,698,684 N154Y probably benign Het
Zscan12 A T 13: 21,369,287 H427L possibly damaging Het
Other mutations in S100a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:S100a5 APN 3 90609814 unclassified probably benign
R0284:S100a5 UTSW 3 90611574 missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGTGGACTCCTGTCAGTG -3'
(R):5'- AGACTCGATAGCCAGGGATTC -3'

Sequencing Primer
(F):5'- ACTCCTGTCAGTGGTGGTTTG -3'
(R):5'- GTCTCTGGCCCTTCCGCAG -3'
Posted On2019-10-07