Incidental Mutation 'IGL01638:S100a7a'
ID93141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol S100a7a
Ensembl Gene ENSMUSG00000063767
Gene NameS100 calcium binding protein A7A
SynonymsS100a15, S100a17l1, LOC381493, S100A7f
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01638
Quality Score
Status
Chromosome3
Chromosomal Location90654017-90658669 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90655530 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 8 (D8G)
Ref Sequence ENSEMBL: ENSMUSP00000078268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079286]
Predicted Effect probably benign
Transcript: ENSMUST00000079286
AA Change: D8G

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078268
Gene: ENSMUSG00000063767
AA Change: D8G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212471
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,974,311 N2377D probably damaging Het
Adamts9 T C 6: 92,872,428 T436A probably benign Het
Adgrb3 T A 1: 25,559,751 probably benign Het
Ajap1 A G 4: 153,432,236 V216A possibly damaging Het
Akap7 T A 10: 25,267,425 I124F probably damaging Het
Arfgef2 G A 2: 166,873,945 V1385M probably damaging Het
Arhgap30 A G 1: 171,397,570 K65E probably damaging Het
Cacna1a T C 8: 84,571,827 F1260S probably damaging Het
Cad T A 5: 31,067,614 C954S probably damaging Het
Fcmr A T 1: 130,875,122 E157D probably benign Het
Gm4204 A T 1: 135,233,135 noncoding transcript Het
Gzmn A T 14: 56,169,019 D16E probably benign Het
Krt86 A C 15: 101,475,472 probably benign Het
Macc1 T C 12: 119,446,511 L338P probably benign Het
Ms4a6d A T 19: 11,587,168 L113Q probably damaging Het
Myh15 T C 16: 49,069,480 S145P probably damaging Het
Nav3 T C 10: 109,852,863 K518E probably damaging Het
Olfr974 T C 9: 39,942,520 S87P probably benign Het
Parp11 T A 6: 127,491,529 F181I probably benign Het
Ppil1 C A 17: 29,261,792 K52N probably benign Het
Prl5a1 T A 13: 28,145,439 C34S possibly damaging Het
Prss55 A G 14: 64,077,187 V178A probably benign Het
Sh3glb2 A G 2: 30,345,850 V310A possibly damaging Het
Slc22a7 T C 17: 46,437,994 probably null Het
Slc27a6 A G 18: 58,607,813 D482G probably damaging Het
Smarcc2 T A 10: 128,488,074 probably benign Het
Specc1l T A 10: 75,246,205 Y478* probably null Het
Spryd3 A G 15: 102,130,276 probably null Het
Tcerg1l G A 7: 138,280,076 R295C probably damaging Het
Trpv1 T C 11: 73,253,329 I637T probably damaging Het
Ttc7 A C 17: 87,359,112 probably null Het
Vmn1r6 C T 6: 57,003,192 Q280* probably null Het
Other mutations in S100a7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:S100a7a APN 3 90657800 missense probably benign 0.00
R1440:S100a7a UTSW 3 90655635 missense probably benign
R7125:S100a7a UTSW 3 90655515 missense probably benign 0.00
Posted On2013-12-09