Incidental Mutation 'IGL00551:Fam47c'
ID332589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam47c
Ensembl Gene ENSMUSG00000078315
Gene Namefamily with sequence similarity 47, member C
Synonyms4921509A18Rik, Fam47a-ps
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00551
Quality Score
Status
ChromosomeX
Chromosomal Location78737763-78739401 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78738454 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 214 (E214G)
Ref Sequence ENSEMBL: ENSMUSP00000137737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105110]
Predicted Effect probably damaging
Transcript: ENSMUST00000105110
AA Change: E214G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137737
Gene: ENSMUSG00000078315
AA Change: E214G

DomainStartEndE-ValueType
Pfam:FAM47 7 222 4.2e-34 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b C T 7: 101,580,569 C41Y probably damaging Het
Btk A G X: 134,573,934 Y42H probably damaging Het
Cacna1e T C 1: 154,403,683 D1720G probably damaging Het
Ccr5 T C 9: 124,124,588 I76T probably damaging Het
Chd3 A G 11: 69,346,629 V1913A probably damaging Het
Dmxl2 A G 9: 54,450,838 Y526H probably damaging Het
Dnah8 A T 17: 30,663,478 K675* probably null Het
Eif2b1 A G 5: 124,576,869 F115L probably damaging Het
Erlin1 T C 19: 44,059,146 D112G probably damaging Het
Fabp12 A G 3: 10,246,055 probably benign Het
Fkbp5 G T 17: 28,401,046 probably benign Het
Hist1h1c C A 13: 23,738,845 probably benign Het
Kidins220 G T 12: 25,038,560 probably benign Het
Limd2 T C 11: 106,159,205 E15G probably benign Het
Mga T A 2: 119,919,814 C696S possibly damaging Het
Naa16 A G 14: 79,355,729 F468L probably damaging Het
Ndufaf1 A G 2: 119,660,469 S37P probably damaging Het
Phrf1 A G 7: 141,258,877 probably benign Het
Prr14 A G 7: 127,474,647 T228A probably benign Het
Rfc1 A T 5: 65,296,009 F265L probably benign Het
Selenos A G 7: 66,087,194 E137G probably benign Het
Tars T C 15: 11,388,221 probably null Het
Tpcn1 A G 5: 120,560,325 I44T probably benign Het
Usp26 A G X: 51,757,305 V31A probably benign Het
Other mutations in Fam47c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Fam47c APN X 78738325 missense probably benign
IGL01313:Fam47c APN X 78737848 missense probably damaging 0.96
IGL02426:Fam47c APN X 78738337 missense probably benign
Posted On2015-08-05