Incidental Mutation 'R6045:S100a6'
ID 483754
Institutional Source Beutler Lab
Gene Symbol S100a6
Ensembl Gene ENSMUSG00000001025
Gene Name S100 calcium binding protein A6 (calcyclin)
Synonyms Cacy, 5B10, 2A9, PRA, CALCYCLIN
MMRRC Submission 044213-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R6045 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 90520189-90531488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90521186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 38 (I38N)
Ref Sequence ENSEMBL: ENSMUSP00000143720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001049] [ENSMUST00000001051] [ENSMUST00000107329] [ENSMUST00000198128] [ENSMUST00000200289]
AlphaFold P14069
Predicted Effect probably benign
Transcript: ENSMUST00000001049
SMART Domains Protein: ENSMUSP00000001049
Gene: ENSMUSG00000001023

DomainStartEndE-ValueType
Pfam:S_100 5 43 1.7e-18 PFAM
Blast:EFh 52 80 2e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000001051
AA Change: I38N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001051
Gene: ENSMUSG00000001025
AA Change: I38N

DomainStartEndE-ValueType
Pfam:S_100 5 43 4.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107329
SMART Domains Protein: ENSMUSP00000102952
Gene: ENSMUSG00000001023

DomainStartEndE-ValueType
Pfam:S_100 5 45 6.1e-20 PFAM
Blast:EFh 52 80 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197189
Predicted Effect probably damaging
Transcript: ENSMUST00000198128
AA Change: I38N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143111
Gene: ENSMUSG00000001025
AA Change: I38N

DomainStartEndE-ValueType
Pfam:S_100 5 44 8.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200289
AA Change: I38N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143720
Gene: ENSMUSG00000001025
AA Change: I38N

DomainStartEndE-ValueType
Pfam:S_100 5 43 4.6e-20 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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 may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,955,996 (GRCm39) Y87C probably benign Het
5530401A14Rik A G 11: 81,784,694 (GRCm39) probably benign Het
Adamts5 T C 16: 85,696,188 (GRCm39) D323G probably damaging Het
Albfm1 A T 5: 90,732,848 (GRCm39) Q553L possibly damaging Het
Bicc1 G A 10: 70,792,911 (GRCm39) R248* probably null Het
Bivm T G 1: 44,158,233 (GRCm39) probably benign Het
Btnl12 G T 16: 37,676,384 (GRCm39) Q128K probably benign Het
Ccdc8 A C 7: 16,729,956 (GRCm39) T482P unknown Het
Ccnb2 T C 9: 70,326,375 (GRCm39) I21V probably benign Het
Cfap73 A T 5: 120,769,777 (GRCm39) I82N probably damaging Het
Chd3 A C 11: 69,242,944 (GRCm39) F1426V possibly damaging Het
Clcn2 A T 16: 20,530,438 (GRCm39) probably null Het
Col6a5 T C 9: 105,803,117 (GRCm39) N1283D unknown Het
Cyp39a1 G T 17: 44,042,882 (GRCm39) G411W probably damaging Het
D130052B06Rik A T 11: 33,574,008 (GRCm39) I202L unknown Het
Defa38 A T 8: 21,585,248 (GRCm39) C65S possibly damaging Het
Dlgap1 T C 17: 71,125,093 (GRCm39) L948P probably damaging Het
Dnah3 C T 7: 119,566,745 (GRCm39) V2494M probably damaging Het
Dysf T A 6: 84,091,054 (GRCm39) V1076D probably damaging Het
Eif2ak4 C A 2: 118,219,296 (GRCm39) S36* probably null Het
Elmod3 C T 6: 72,545,851 (GRCm39) R297H probably benign Het
Epas1 C A 17: 87,116,827 (GRCm39) R166S probably damaging Het
Erv3 A G 2: 131,697,942 (GRCm39) L139P probably damaging Het
Fryl A G 5: 73,275,894 (GRCm39) V90A probably damaging Het
Fxr2 A G 11: 69,541,877 (GRCm39) R439G possibly damaging Het
Gabrd A T 4: 155,470,931 (GRCm39) V259D possibly damaging Het
Galnt10 A G 11: 57,674,619 (GRCm39) Y536C probably damaging Het
Gbp10 A T 5: 105,366,269 (GRCm39) L545Q probably damaging Het
Gfpt1 A T 6: 87,062,239 (GRCm39) I517F probably damaging Het
Glb1 T C 9: 114,267,010 (GRCm39) Y225H probably damaging Het
Gm1110 C T 9: 26,794,505 (GRCm39) probably null Het
Gmps C T 3: 63,887,558 (GRCm39) P10L probably benign Het
Greb1l T A 18: 10,547,068 (GRCm39) V1465D probably damaging Het
Helz2 A G 2: 180,882,106 (GRCm39) V229A probably benign Het
Hipk1 A T 3: 103,654,218 (GRCm39) L924Q probably benign Het
Ifngr1 T G 10: 19,484,909 (GRCm39) L303V possibly damaging Het
Kif22 T C 7: 126,630,250 (GRCm39) N429D probably benign Het
Ktn1 T C 14: 47,914,253 (GRCm39) Y401H probably damaging Het
Lars2 T G 9: 123,201,053 (GRCm39) I39S probably damaging Het
Lipf C T 19: 33,944,244 (GRCm39) A151V probably damaging Het
Lrp1 A T 10: 127,402,469 (GRCm39) M2234K probably damaging Het
Lrp1b A G 2: 40,591,825 (GRCm39) V56A unknown Het
Lyar T A 5: 38,391,352 (GRCm39) H350Q probably benign Het
Mill2 A T 7: 18,590,489 (GRCm39) M190L probably benign Het
Morc3 A G 16: 93,671,733 (GRCm39) D921G probably damaging Het
Mpp2 G T 11: 101,950,180 (GRCm39) T558K probably benign Het
Myh4 A G 11: 67,135,550 (GRCm39) D379G probably benign Het
Neb A C 2: 52,084,437 (GRCm39) probably null Het
Nedd1 G A 10: 92,530,962 (GRCm39) R376* probably null Het
Nlrc4 T G 17: 74,753,954 (GRCm39) D143A probably damaging Het
Nol10 G T 12: 17,398,479 (GRCm39) probably benign Het
Opn1sw A G 6: 29,379,869 (GRCm39) S122P probably damaging Het
Or10j3b C T 1: 173,044,067 (GRCm39) T283I possibly damaging Het
Or4f14d T G 2: 111,960,881 (GRCm39) I92L possibly damaging Het
Or52h7 C T 7: 104,213,974 (GRCm39) T182I probably benign Het
Or5an9 C A 19: 12,187,659 (GRCm39) A243D probably damaging Het
Or5h27 T A 16: 59,006,454 (GRCm39) T131S probably benign Het
Orm1 T A 4: 63,262,929 (GRCm39) I32N possibly damaging Het
Pcdhb5 T A 18: 37,454,628 (GRCm39) V336E probably damaging Het
Poli C T 18: 70,650,540 (GRCm39) R363K possibly damaging Het
Rabgap1l T C 1: 160,472,893 (GRCm39) E515G probably benign Het
Rem2 C A 14: 54,715,225 (GRCm39) T134N probably damaging Het
Rfc1 A G 5: 65,436,892 (GRCm39) I596T probably damaging Het
Ruvbl2 A T 7: 45,074,433 (GRCm39) I202N probably damaging Het
Scel T C 14: 103,829,649 (GRCm39) C435R probably benign Het
Slc6a13 T A 6: 121,298,587 (GRCm39) W146R probably damaging Het
Sorcs1 T A 19: 50,178,555 (GRCm39) K856* probably null Het
Speer4e1 T G 5: 14,987,195 (GRCm39) K70T possibly damaging Het
Sucla2 T A 14: 73,806,404 (GRCm39) C158* probably null Het
Tie1 G A 4: 118,341,888 (GRCm39) S187L probably benign Het
Tmem200a T C 10: 25,868,905 (GRCm39) T455A probably damaging Het
Tra2a A G 6: 49,229,398 (GRCm39) probably benign Het
Tsnaxip1 A C 8: 106,570,819 (GRCm39) E615A probably benign Het
Tuba3b T A 6: 145,566,900 (GRCm39) N380K probably damaging Het
Umod C T 7: 119,076,046 (GRCm39) S240N probably benign Het
Vmn2r92 G A 17: 18,388,305 (GRCm39) probably null Het
Vps13b A G 15: 35,671,462 (GRCm39) E1655G probably damaging Het
Vwde A T 6: 13,219,935 (GRCm39) I72N probably damaging Het
Wbp11 G A 6: 136,798,533 (GRCm39) A172V probably damaging Het
Zbtb41 T A 1: 139,351,770 (GRCm39) N294K probably benign Het
Zfhx4 T A 3: 5,462,019 (GRCm39) H1206Q probably damaging Het
Other mutations in S100a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4012:S100a6 UTSW 3 90,521,508 (GRCm39) missense probably damaging 0.99
R7209:S100a6 UTSW 3 90,521,095 (GRCm39) missense possibly damaging 0.95
R8004:S100a6 UTSW 3 90,521,119 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GTTGGCTTGAGACTGACTGC -3'
(R):5'- AAGATGGGCCTTCAGCTTGG -3'
Posted On 2017-07-14