Incidental Mutation 'R5816:S100a14'
ID 449036
Institutional Source Beutler Lab
Gene Symbol S100a14
Ensembl Gene ENSMUSG00000042306
Gene Name S100 calcium binding protein A14
Synonyms 1110013O05Rik, S100a15
MMRRC Submission 043214-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5816 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90434163-90436144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90435157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 56 (H56R)
Ref Sequence ENSEMBL: ENSMUSP00000142428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048138] [ENSMUST00000164481] [ENSMUST00000167598] [ENSMUST00000199538]
AlphaFold Q9D2Q8
Predicted Effect probably benign
Transcript: ENSMUST00000048138
SMART Domains Protein: ENSMUSP00000047737
Gene: ENSMUSG00000042312

DomainStartEndE-ValueType
Pfam:S_100 71 113 4.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164481
SMART Domains Protein: ENSMUSP00000129862
Gene: ENSMUSG00000042306

DomainStartEndE-ValueType
PDB:2M0R|B 11 52 1e-22 PDB
SCOP:d1qlka_ 13 44 6e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167598
AA Change: H56R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126821
Gene: ENSMUSG00000042306
AA Change: H56R

DomainStartEndE-ValueType
Pfam:S_100 18 58 1.6e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199538
AA Change: H56R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142428
Gene: ENSMUSG00000042306
AA Change: H56R

DomainStartEndE-ValueType
Pfam:S_100 18 60 1.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200565
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,234,563 (GRCm39) D1501G probably damaging Het
Aldh8a1 A T 10: 21,271,329 (GRCm39) I352F probably damaging Het
Bend7 G A 2: 4,749,143 (GRCm39) E87K probably damaging Het
Bend7 A G 2: 4,757,710 (GRCm39) R251G probably benign Het
Cep72 A T 13: 74,197,150 (GRCm39) S402T probably benign Het
Cer1 A G 4: 82,801,120 (GRCm39) V181A probably damaging Het
Ces1b T C 8: 93,799,890 (GRCm39) N162S probably benign Het
Cyp1a2 T C 9: 57,588,336 (GRCm39) N296S probably benign Het
Cyria A G 12: 12,408,166 (GRCm39) D64G probably benign Het
Dst C T 1: 34,218,315 (GRCm39) A1585V probably benign Het
Dzip1 G A 14: 119,146,892 (GRCm39) P339L probably benign Het
Eif4enif1 T C 11: 3,192,401 (GRCm39) I568T probably benign Het
Eif5a C T 11: 69,808,499 (GRCm39) R109Q possibly damaging Het
Foxj2 G A 6: 122,810,695 (GRCm39) S225N probably benign Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Galnt14 T C 17: 73,881,877 (GRCm39) Y74C probably damaging Het
Glrb T A 3: 80,769,286 (GRCm39) N147I probably damaging Het
Grb14 A T 2: 64,747,628 (GRCm39) M377K probably damaging Het
Kcng1 C T 2: 168,110,643 (GRCm39) E174K possibly damaging Het
Kdm3b A C 18: 34,961,522 (GRCm39) E1433A probably damaging Het
Matn3 G A 12: 9,020,571 (GRCm39) R481H probably damaging Het
Mcm6 A G 1: 128,276,192 (GRCm39) V331A probably benign Het
Mdga2 T C 12: 66,701,956 (GRCm39) Y415C probably damaging Het
Med11 T C 11: 70,343,111 (GRCm39) S65P probably damaging Het
Metrnl T A 11: 121,598,938 (GRCm39) S166T probably benign Het
Mllt6 A G 11: 97,563,400 (GRCm39) K328E probably damaging Het
Nek5 T C 8: 22,586,752 (GRCm39) K353R probably benign Het
Or52ab4 A G 7: 102,988,202 (GRCm39) T314A probably benign Het
Or8g52 T A 9: 39,630,526 (GRCm39) M1K probably null Het
Pfkl A T 10: 77,837,856 (GRCm39) N46K possibly damaging Het
Phactr3 A G 2: 177,944,586 (GRCm39) E428G probably damaging Het
Pkhd1 T C 1: 20,128,902 (GRCm39) S3934G probably benign Het
Pkhd1l1 A G 15: 44,429,718 (GRCm39) D3312G probably benign Het
Prmt8 G A 6: 127,674,701 (GRCm39) T309I probably benign Het
Psd3 A T 8: 68,413,162 (GRCm39) V742E possibly damaging Het
Scaf8 T A 17: 3,227,988 (GRCm39) S406T unknown Het
Slc26a4 G T 12: 31,578,684 (GRCm39) H656Q probably damaging Het
Smarcc1 T C 9: 110,026,712 (GRCm39) V724A possibly damaging Het
Thbs2 C T 17: 14,904,333 (GRCm39) probably null Het
Zbtb6 A T 2: 37,319,227 (GRCm39) F234I probably benign Het
Zfp536 C T 7: 37,180,053 (GRCm39) D851N probably damaging Het
Other mutations in S100a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1323:S100a14 UTSW 3 90,435,043 (GRCm39) missense probably damaging 1.00
R1323:S100a14 UTSW 3 90,435,043 (GRCm39) missense probably damaging 1.00
R2243:S100a14 UTSW 3 90,435,114 (GRCm39) missense possibly damaging 0.70
R7017:S100a14 UTSW 3 90,434,602 (GRCm39) critical splice donor site probably null
R7171:S100a14 UTSW 3 90,435,069 (GRCm39) nonsense probably null
R7426:S100a14 UTSW 3 90,435,511 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GACTTTCCAGGCTCCTGAGAAG -3'
(R):5'- GCAGCACTTCCAGATCTTCC -3'

Sequencing Primer
(F):5'- CAGGCTCCTGAGAAGGGTTTTG -3'
(R):5'- AGATCTTCCTGCCCCACC -3'
Posted On 2016-12-20