Incidental Mutation 'IGL00795:5031410I06Rik'
ID277966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5031410I06Rik
Ensembl Gene ENSMUSG00000051940
Gene NameRIKEN cDNA 5031410I06 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00795
Quality Score
Status
Chromosome5
Chromosomal Location26098668-26105362 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 26104155 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 50 (R50G)
Ref Sequence ENSEMBL: ENSMUSP00000069697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063524]
Predicted Effect probably damaging
Transcript: ENSMUST00000063524
AA Change: R50G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069697
Gene: ENSMUSG00000051940
AA Change: R50G

DomainStartEndE-ValueType
Pfam:Takusan 49 135 2.1e-18 PFAM
coiled coil region 196 223 N/A INTRINSIC
low complexity region 247 261 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1m1 A G 8: 72,253,509 N308S probably damaging Het
Bub1 A G 2: 127,821,815 V222A probably benign Het
Ccdc91 G T 6: 147,507,807 D4Y probably damaging Het
Defb21 A G 2: 152,574,745 D47G probably benign Het
Dnah17 C A 11: 118,093,634 C1607F probably benign Het
Fam126b C T 1: 58,552,179 E102K probably damaging Het
Insc T C 7: 114,842,154 L401P probably damaging Het
Kif18a A T 2: 109,293,020 N213I probably damaging Het
Mapre1 A G 2: 153,746,314 D19G probably damaging Het
Mettl8 A T 2: 70,982,090 I32N probably damaging Het
Mroh9 T A 1: 163,060,622 T295S probably damaging Het
Pum3 T A 19: 27,422,358 Y225F probably damaging Het
Tas2r131 G A 6: 132,957,591 T85I possibly damaging Het
Tbcd T G 11: 121,616,932 I1193S probably benign Het
Tgoln1 C T 6: 72,616,252 A82T probably benign Het
Other mutations in 5031410I06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00640:5031410I06Rik APN 5 26104155 missense probably damaging 0.99
IGL00783:5031410I06Rik APN 5 26104155 missense probably damaging 0.99
IGL00793:5031410I06Rik APN 5 26104155 missense probably damaging 0.99
R6194:5031410I06Rik UTSW 5 26104035 missense probably benign 0.08
Posted On2015-04-16