Incidental Mutation 'IGL00679:1700013F07Rik'
ID12409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700013F07Rik
Ensembl Gene ENSMUSG00000027886
Gene NameRIKEN cDNA 1700013F07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL00679
Quality Score
Status
Chromosome3
Chromosomal Location108534150-108544723 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108537635 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 6 (E6G)
Ref Sequence ENSEMBL: ENSMUSP00000029485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029485] [ENSMUST00000048012] [ENSMUST00000106625] [ENSMUST00000106626] [ENSMUST00000185128]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029485
AA Change: E6G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029485
Gene: ENSMUSG00000027886
AA Change: E6G

DomainStartEndE-ValueType
Pfam:DUF3695 29 128 1.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048012
SMART Domains Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412

DomainStartEndE-ValueType
internal_repeat_1 3 212 1.11e-6 PROSPERO
internal_repeat_1 289 522 1.11e-6 PROSPERO
transmembrane domain 806 828 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106625
SMART Domains Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
internal_repeat_1 48 310 8.31e-11 PROSPERO
internal_repeat_1 325 620 8.31e-11 PROSPERO
transmembrane domain 904 926 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106626
SMART Domains Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
internal_repeat_1 48 178 2.5e-7 PROSPERO
internal_repeat_1 275 421 2.5e-7 PROSPERO
transmembrane domain 854 876 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148237
Predicted Effect probably benign
Transcript: ENSMUST00000185128
SMART Domains Protein: ENSMUSP00000138870
Gene: ENSMUSG00000040412

DomainStartEndE-ValueType
low complexity region 25 31 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195529
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 C A 12: 52,517,281 A345D probably damaging Het
Ccdc73 C T 2: 104,994,591 P990S probably damaging Het
Cep112 A G 11: 108,591,053 K692R probably damaging Het
Cep57l1 A T 10: 41,719,800 C319* probably null Het
Cntnap5c A G 17: 58,055,678 D342G probably damaging Het
Exoc1 A T 5: 76,567,023 H742L possibly damaging Het
Faah A T 4: 116,008,283 L69Q possibly damaging Het
Fbxw21 G A 9: 109,161,964 P9L probably damaging Het
Irak4 T A 15: 94,556,628 M218K probably benign Het
Kdm2a A T 19: 4,326,841 C235S probably damaging Het
Rab4a A G 8: 123,827,414 D29G probably damaging Het
Slc22a8 A G 19: 8,604,855 I133M possibly damaging Het
Wipi2 A G 5: 142,659,149 D170G probably damaging Het
Other mutations in 1700013F07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1450:1700013F07Rik UTSW 3 108542483 splice site probably null
R2275:1700013F07Rik UTSW 3 108542503 missense possibly damaging 0.94
R7388:1700013F07Rik UTSW 3 108543499 missense possibly damaging 0.87
R7397:1700013F07Rik UTSW 3 108543548 missense probably benign 0.33
R7614:1700013F07Rik UTSW 3 108542532 missense probably benign 0.01
Posted On2012-12-06