Incidental Mutation 'R1323:S100a14'
ID 172449
Institutional Source Beutler Lab
Gene Symbol S100a14
Ensembl Gene ENSMUSG00000042306
Gene Name S100 calcium binding protein A14
Synonyms 1110013O05Rik, S100a15
MMRRC Submission 039389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R1323 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90434163-90436144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90435043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 18 (V18A)
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: V18A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126821
Gene: ENSMUSG00000042306
AA Change: V18A

DomainStartEndE-ValueType
Pfam:S_100 18 58 1.6e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199538
AA Change: V18A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142428
Gene: ENSMUSG00000042306
AA Change: V18A

DomainStartEndE-ValueType
Pfam:S_100 18 60 1.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200565
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.7%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,240,937 (GRCm39) F933L possibly damaging Het
Abcc8 T G 7: 45,766,786 (GRCm39) Q998P probably benign Het
Akr1e1 C T 13: 4,657,547 (GRCm39) G17E probably damaging Het
Ankrd44 A G 1: 54,805,609 (GRCm39) probably benign Het
D630045J12Rik T C 6: 38,125,443 (GRCm39) I1524V probably damaging Het
Elovl1 T C 4: 118,288,851 (GRCm39) L103P possibly damaging Het
Emsy T C 7: 98,259,864 (GRCm39) probably benign Het
Fam171a2 T G 11: 102,334,951 (GRCm39) D62A probably damaging Het
Firrm C A 1: 163,783,030 (GRCm39) probably benign Het
Frzb G A 2: 80,243,720 (GRCm39) P320S probably benign Het
Fsip2 G T 2: 82,816,096 (GRCm39) G3943V probably damaging Het
Ftdc1 G A 16: 58,437,278 (GRCm39) P10L possibly damaging Het
Grm8 A G 6: 28,125,973 (GRCm39) L51P probably damaging Het
H2af-ps2 T G 13: 51,357,100 (GRCm39) noncoding transcript Het
Hnf4g T C 3: 3,699,281 (GRCm39) S4P possibly damaging Het
Megf8 T A 7: 25,059,527 (GRCm39) probably null Het
Mtnr1b A G 9: 15,774,432 (GRCm39) F209S probably damaging Het
Nckipsd G A 9: 108,689,778 (GRCm39) R313Q probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Paqr5 C T 9: 61,868,810 (GRCm39) probably null Het
Sycp2 A T 2: 177,989,414 (GRCm39) S1441R possibly damaging Het
Vmn2r101 G A 17: 19,832,313 (GRCm39) D770N probably damaging Het
Zfp600 A G 4: 146,133,261 (GRCm39) Y643C probably damaging Het
Other mutations in S100a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5816:S100a14 UTSW 3 90,435,157 (GRCm39) missense probably damaging 0.98
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'- TGCCTACACAGGGTGATGCAAATG -3'
(R):5'- AAAGATACAGGGTTCCCAATGCCAG -3'

Sequencing Primer
(F):5'- TCTGGGCACATGCTAGAGC -3'
(R):5'- GTCCTGGAGCACTAGCTTG -3'
Posted On 2014-04-24