Incidental Mutation 'R2162:S100a10'
ID 235191
Institutional Source Beutler Lab
Gene Symbol S100a10
Ensembl Gene ENSMUSG00000041959
Gene Name S100 calcium binding protein A10 (calpactin)
Synonyms CLP11, CAL12, p10, 42C, Cal1l
MMRRC Submission 040165-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R2162 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 93462424-93471952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93471680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000130712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045756] [ENSMUST00000170612]
AlphaFold P08207
Predicted Effect probably damaging
Transcript: ENSMUST00000045756
AA Change: V88A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036949
Gene: ENSMUSG00000041959
AA Change: V88A

DomainStartEndE-ValueType
Pfam:S_100 5 45 5.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148400
Predicted Effect probably damaging
Transcript: ENSMUST00000170612
AA Change: V88A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130712
Gene: ENSMUSG00000041959
AA Change: V88A

DomainStartEndE-ValueType
Pfam:S_100 5 44 5.2e-18 PFAM
Meta Mutation Damage Score 0.1332 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (55/55)
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 exocytosis and endocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display a depression-like phenotype, decreased responsiveness to 5-HT1B receptor agonists, and reduced behavioral reactions to an antidepressant. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Ankrd28 T C 14: 31,430,719 (GRCm39) D850G probably damaging Het
Arhgap45 T C 10: 79,852,813 (GRCm39) M1T probably null Het
Atp6v0a4 T G 6: 38,065,581 (GRCm39) K128N possibly damaging Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Clca4b T C 3: 144,634,348 (GRCm39) I82V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Dnaaf5 T C 5: 139,167,320 (GRCm39) V447A possibly damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Eng C T 2: 32,569,059 (GRCm39) R528C probably damaging Het
Gcn1 A T 5: 115,730,191 (GRCm39) Q835L probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Hlx T A 1: 184,462,889 (GRCm39) probably null Het
Htt T A 5: 34,979,062 (GRCm39) V815D probably benign Het
Il36rn G T 2: 24,169,692 (GRCm39) L17F probably damaging Het
Itga1 C T 13: 115,167,446 (GRCm39) V157I probably benign Het
Krtap19-3 T G 16: 88,674,607 (GRCm39) *88C probably null Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Mep1b C T 18: 21,219,296 (GRCm39) T150I possibly damaging Het
Mroh7 G C 4: 106,557,378 (GRCm39) S777R probably damaging Het
Nrxn1 G A 17: 90,469,859 (GRCm39) R35C probably damaging Het
Or12e10 T A 2: 87,640,704 (GRCm39) I180K probably damaging Het
Or51v8 T G 7: 103,320,079 (GRCm39) Q53P possibly damaging Het
Or5p69 C A 7: 107,966,769 (GRCm39) P24Q probably benign Het
Pacs2 A G 12: 113,014,567 (GRCm39) T243A probably benign Het
Pan2 A G 10: 128,140,091 (GRCm39) E4G possibly damaging Het
Pdp1 A G 4: 11,961,123 (GRCm39) V396A probably damaging Het
Pdzd7 A G 19: 45,024,494 (GRCm39) probably null Het
Peg10 T A 6: 4,755,914 (GRCm39) probably benign Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Ppp1r9b T C 11: 94,888,877 (GRCm39) L97P probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Scn9a T A 2: 66,364,573 (GRCm39) Y789F probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Spata31g1 A G 4: 42,972,238 (GRCm39) T524A possibly damaging Het
Sptan1 T C 2: 29,908,588 (GRCm39) probably benign Het
Srrd G T 5: 112,490,810 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,718,221 (GRCm39) T201A probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Ttll4 A G 1: 74,725,550 (GRCm39) K653E probably damaging Het
Usp43 A G 11: 67,770,795 (GRCm39) L613P probably damaging Het
Vmn1r167 T C 7: 23,204,224 (GRCm39) D264G possibly damaging Het
Whamm A G 7: 81,221,089 (GRCm39) D7G probably damaging Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp280d T A 9: 72,206,104 (GRCm39) I62K probably damaging Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zfp516 A G 18: 83,005,063 (GRCm39) R656G possibly damaging Het
Other mutations in S100a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1870:S100a10 UTSW 3 93,468,377 (GRCm39) missense probably benign 0.08
R3831:S100a10 UTSW 3 93,471,680 (GRCm39) missense probably damaging 0.98
R3833:S100a10 UTSW 3 93,471,680 (GRCm39) missense probably damaging 0.98
R3940:S100a10 UTSW 3 93,468,383 (GRCm39) missense probably benign 0.04
R5116:S100a10 UTSW 3 93,468,247 (GRCm39) splice site probably null
R7553:S100a10 UTSW 3 93,471,602 (GRCm39) missense probably benign 0.00
R9649:S100a10 UTSW 3 93,471,590 (GRCm39) missense possibly damaging 0.92
RF011:S100a10 UTSW 3 93,471,541 (GRCm39) critical splice acceptor site probably benign
Z1177:S100a10 UTSW 3 93,462,475 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CACGTGGCTGTCAGAAGTTTG -3'
(R):5'- CTCTCTCAGATTGTTGAATTGGAG -3'

Sequencing Primer
(F):5'- GGCTGTCAGAAGTTTGAATCAG -3'
(R):5'- AATTGGAGTTGGATCTCATTTGCAC -3'
Posted On 2014-10-01