Incidental Mutation 'R7815:S100a7a'
ID 601449
Institutional Source Beutler Lab
Gene Symbol S100a7a
Ensembl Gene ENSMUSG00000063767
Gene Name S100 calcium binding protein A7A
Synonyms S100a15, S100a17l1, S100A7f, LOC381493
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7815 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 90561609-90565437 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90565119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 105 (H105N)
Ref Sequence ENSEMBL: ENSMUSP00000078268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079286]
AlphaFold Q6S5I3
Predicted Effect probably benign
Transcript: ENSMUST00000079286
AA Change: H105N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000078268
Gene: ENSMUSG00000063767
AA Change: H105N

DomainStartEndE-ValueType
Pfam:S_100 6 48 1.9e-14 PFAM
Pfam:EF-hand_1 57 85 4.3e-8 PFAM
Pfam:EF-hand_5 58 85 6.6e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,818,866 (GRCm39) D1285G probably benign Het
Abcc9 A G 6: 142,598,331 (GRCm39) V669A probably damaging Het
Ajap1 C A 4: 153,517,288 (GRCm39) G18C probably damaging Het
Alms1 G T 6: 85,592,340 (GRCm39) M397I probably benign Het
Ampd2 A T 3: 107,982,247 (GRCm39) M794K probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Casz1 A T 4: 149,013,762 (GRCm39) I109F possibly damaging Het
Ces5a G A 8: 94,247,623 (GRCm39) S297F possibly damaging Het
Col7a1 A G 9: 108,798,633 (GRCm39) D1762G probably damaging Het
Dsp A T 13: 38,375,446 (GRCm39) Y1077F probably benign Het
Eef2k A G 7: 120,457,793 (GRCm39) N51D probably benign Het
Erbb4 A G 1: 68,081,885 (GRCm39) Y1050H probably damaging Het
Fpgt A T 3: 154,792,289 (GRCm39) S579R probably benign Het
Gabra4 T A 5: 71,815,152 (GRCm39) M1L possibly damaging Het
Galk2 G A 2: 125,817,321 (GRCm39) S370N probably damaging Het
Gpr155 T A 2: 73,192,904 (GRCm39) T516S probably benign Het
Homez T C 14: 55,095,675 (GRCm39) N11S probably benign Het
Hspg2 G A 4: 137,239,775 (GRCm39) G494D probably damaging Het
Htr3b C T 9: 48,856,833 (GRCm39) R215Q probably benign Het
Igfbp4 A G 11: 98,932,654 (GRCm39) E111G probably benign Het
Igkv8-19 T C 6: 70,318,420 (GRCm39) T5A probably benign Het
Insrr A G 3: 87,716,002 (GRCm39) K566E probably damaging Het
Iqsec3 A G 6: 121,450,317 (GRCm39) V69A probably benign Het
Kdm5d T C Y: 940,702 (GRCm39) V1071A probably damaging Het
Kif28 A G 1: 179,563,548 (GRCm39) C143R probably damaging Het
Kpna6 T C 4: 129,551,590 (GRCm39) M65V probably benign Het
L3mbtl3 T C 10: 26,156,276 (GRCm39) S669G unknown Het
Man1a2 A T 3: 100,563,495 (GRCm39) I50N probably damaging Het
Map3k11 A T 19: 5,745,667 (GRCm39) M356L possibly damaging Het
Meioc A T 11: 102,566,414 (GRCm39) N677Y probably damaging Het
Myom3 A T 4: 135,528,674 (GRCm39) K1108M possibly damaging Het
Nav1 C T 1: 135,512,377 (GRCm39) E228K possibly damaging Het
Ncapd3 G A 9: 26,974,736 (GRCm39) W736* probably null Het
Nfkb1 T C 3: 135,309,552 (GRCm39) D514G probably damaging Het
Nnt T A 13: 119,494,111 (GRCm39) T657S possibly damaging Het
Or4k5 A G 14: 50,386,253 (GRCm39) F26S probably benign Het
Or51b4 A G 7: 103,530,992 (GRCm39) S153P probably benign Het
Oser1 A T 2: 163,253,336 (GRCm39) S58T possibly damaging Het
Pcdha5 T A 18: 37,094,556 (GRCm39) I355N possibly damaging Het
Pllp C G 8: 95,402,804 (GRCm39) G99A probably damaging Het
Pram1 A G 17: 33,861,106 (GRCm39) N509S probably benign Het
Prkd1 A C 12: 50,472,300 (GRCm39) N204K probably damaging Het
Prss23 G A 7: 89,159,253 (GRCm39) P272L probably damaging Het
Pxdn T C 12: 30,055,824 (GRCm39) F1057L probably damaging Het
Rapgef5 T A 12: 117,719,702 (GRCm39) S777R probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rfx3 A T 19: 27,803,448 (GRCm39) M265K probably benign Het
Serpinb3b T C 1: 107,084,625 (GRCm39) D132G probably damaging Het
Sp7 T A 15: 102,274,822 (GRCm39) probably benign Het
Tacstd2 A G 6: 67,512,140 (GRCm39) F184S possibly damaging Het
Trdc C A 14: 54,381,259 (GRCm39) probably benign Het
Trpa1 T A 1: 14,974,486 (GRCm39) H232L probably benign Het
Trpc3 G T 3: 36,709,294 (GRCm39) T394K probably benign Het
Tuba3b G A 6: 145,566,847 (GRCm39) V363I possibly damaging Het
Tubb2a C A 13: 34,258,962 (GRCm39) R276L probably benign Het
Ubap2l A T 3: 89,951,071 (GRCm39) L72* probably null Het
Vps13a A T 19: 16,702,936 (GRCm39) D672E probably damaging Het
Wdr26 A G 1: 181,036,638 (GRCm39) V166A probably benign Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Xirp2 G A 2: 67,339,756 (GRCm39) G666R probably damaging Het
Zfp131 T C 13: 120,237,516 (GRCm39) K247E probably damaging Het
Other mutations in S100a7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:S100a7a APN 3 90,565,107 (GRCm39) missense probably benign 0.00
IGL01638:S100a7a APN 3 90,562,837 (GRCm39) missense probably benign 0.18
R1440:S100a7a UTSW 3 90,562,942 (GRCm39) missense probably benign
R7125:S100a7a UTSW 3 90,562,822 (GRCm39) missense probably benign 0.00
R8424:S100a7a UTSW 3 90,562,868 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACCACACTGCTGTAATCC -3'
(R):5'- CCATGACCTGAGTACTTCCCAG -3'

Sequencing Primer
(F):5'- TTCAACCCCAGCAGGAGGAG -3'
(R):5'- CCTGAGTACTTCCCAGAAATATTTG -3'
Posted On 2019-12-03