Incidental Mutation 'IGL00783:5031410I06Rik'
ID 277934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5031410I06Rik
Ensembl Gene ENSMUSG00000051940
Gene Name RIKEN cDNA 5031410I06 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL00783
Quality Score
Status
Chromosome 5
Chromosomal Location 26303666-26310312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26309153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 50 (R50G)
Ref Sequence ENSEMBL: ENSMUSP00000069697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063524]
AlphaFold E9Q4E0
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef33 A T 17: 80,675,659 (GRCm39) I403L probably benign Het
Cd4 A G 6: 124,849,952 (GRCm39) V121A possibly damaging Het
Dock10 A G 1: 80,550,166 (GRCm39) probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Hid1 A T 11: 115,239,336 (GRCm39) Y776N probably damaging Het
Hnrnpl T C 7: 28,520,067 (GRCm39) F482L probably benign Het
Ift122 T A 6: 115,882,863 (GRCm39) H659Q probably benign Het
Igsf3 A G 3: 101,338,555 (GRCm39) R290G probably damaging Het
Jhy T C 9: 40,834,048 (GRCm39) T291A probably benign Het
Kmt2e A G 5: 23,697,356 (GRCm39) I605V probably damaging Het
Nmt2 T A 2: 3,315,846 (GRCm39) F279I probably damaging Het
Nup93 G A 8: 95,035,651 (GRCm39) probably null Het
Oas2 A G 5: 120,876,428 (GRCm39) F15S probably damaging Het
Pecam1 T C 11: 106,590,624 (GRCm39) D22G probably damaging Het
Pold2 T C 11: 5,822,412 (GRCm39) E419G probably benign Het
Rassf3 T C 10: 121,251,985 (GRCm39) H142R probably benign Het
Rp2 T A X: 20,243,408 (GRCm39) C128S probably damaging Het
Scn7a T G 2: 66,522,908 (GRCm39) E932A probably damaging Het
Sis T C 3: 72,853,965 (GRCm39) H504R probably benign Het
Syce1l A G 8: 114,379,494 (GRCm39) D120G probably benign Het
Tns4 A G 11: 98,961,221 (GRCm39) probably benign Het
Unc80 G A 1: 66,647,596 (GRCm39) G1512E probably benign Het
Other mutations in 5031410I06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00640:5031410I06Rik APN 5 26,309,153 (GRCm39) missense probably damaging 0.99
IGL00793:5031410I06Rik APN 5 26,309,153 (GRCm39) missense probably damaging 0.99
IGL00795:5031410I06Rik APN 5 26,309,153 (GRCm39) missense probably damaging 0.99
R6194:5031410I06Rik UTSW 5 26,309,033 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16