Incidental Mutation 'IGL03121:1700012B09Rik'
ID 409988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700012B09Rik
Ensembl Gene ENSMUSG00000031927
Gene Name RIKEN cDNA 1700012B09 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL03121
Quality Score
Status
Chromosome 9
Chromosomal Location 14667883-14682326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14672946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 4 (S4P)
Ref Sequence ENSEMBL: ENSMUSP00000140386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060330] [ENSMUST00000188350] [ENSMUST00000191047] [ENSMUST00000191167]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000060330
AA Change: S106P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049826
Gene: ENSMUSG00000031927
AA Change: S106P

DomainStartEndE-ValueType
Blast:ANK 44 68 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000186706
Predicted Effect possibly damaging
Transcript: ENSMUST00000188350
AA Change: S106P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139796
Gene: ENSMUSG00000031927
AA Change: S106P

DomainStartEndE-ValueType
Blast:ANK 44 68 2e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000191047
AA Change: S106P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140908
Gene: ENSMUSG00000031927
AA Change: S106P

DomainStartEndE-ValueType
Blast:ANK 44 68 8e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000191167
AA Change: S4P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,618,265 (GRCm39) N186S probably benign Het
Afg2a T C 3: 37,518,800 (GRCm39) I778T probably damaging Het
Ago1 T C 4: 126,353,796 (GRCm39) K261R probably benign Het
Alas1 G A 9: 106,124,113 (GRCm39) P15L probably damaging Het
Aox1 G A 1: 58,398,113 (GRCm39) V1285M probably damaging Het
Brd8 A T 18: 34,739,740 (GRCm39) F678I probably damaging Het
Col27a1 T A 4: 63,143,446 (GRCm39) M378K probably benign Het
Dpy19l4 C A 4: 11,303,334 (GRCm39) V196F probably damaging Het
Dst G T 1: 34,256,884 (GRCm39) probably benign Het
Hsd17b1 T A 11: 100,970,870 (GRCm39) Y275* probably null Het
Kdm3b A G 18: 34,928,762 (GRCm39) E171G probably damaging Het
Klc1 T C 12: 111,748,076 (GRCm39) probably benign Het
Mlkl G A 8: 112,041,612 (GRCm39) R443W probably damaging Het
Mov10 A T 3: 104,708,318 (GRCm39) V477E probably benign Het
Nacad A G 11: 6,550,933 (GRCm39) S753P probably damaging Het
Ncapd2 A C 6: 125,150,575 (GRCm39) M842R probably benign Het
Nkd2 C A 13: 73,969,498 (GRCm39) A311S probably benign Het
Nrg1 A G 8: 32,314,608 (GRCm39) probably benign Het
Or4f6 A G 2: 111,838,953 (GRCm39) Y193H probably benign Het
Or6c68 A G 10: 129,158,037 (GRCm39) I182V probably benign Het
Pde6h A G 6: 136,936,280 (GRCm39) S8G probably null Het
Pik3c2b A G 1: 133,007,483 (GRCm39) K616E probably benign Het
Pnpt1 A T 11: 29,082,845 (GRCm39) R54S probably benign Het
Pramel38 T C 5: 94,368,912 (GRCm39) V469A possibly damaging Het
Rttn A G 18: 88,993,875 (GRCm39) D184G probably damaging Het
Skint5 T A 4: 113,574,284 (GRCm39) I756F unknown Het
Slc24a2 T C 4: 87,145,143 (GRCm39) T304A probably benign Het
Stk3 A T 15: 35,099,572 (GRCm39) probably benign Het
Trim69 A G 2: 121,998,128 (GRCm39) I33M probably benign Het
Ube2q2 A T 9: 55,102,323 (GRCm39) probably benign Het
Vmn1r67 T A 7: 10,181,394 (GRCm39) N158K probably benign Het
Wipi2 G A 5: 142,648,857 (GRCm39) E252K probably benign Het
Other mutations in 1700012B09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R8030:1700012B09Rik UTSW 9 14,672,970 (GRCm39) missense probably benign
Posted On 2016-08-02