Incidental Mutation 'IGL03121:1700012B09Rik'
ID409988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700012B09Rik
Ensembl Gene ENSMUSG00000031927
Gene NameRIKEN cDNA 1700012B09 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03121
Quality Score
Status
Chromosome9
Chromosomal Location14756587-14771030 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14761650 bp
ZygosityHeterozygous
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]
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: 121,641,306 N186S probably benign Het
Ago1 T C 4: 126,460,003 K261R probably benign Het
Alas1 G A 9: 106,246,914 P15L probably damaging Het
Aox2 G A 1: 58,358,954 V1285M probably damaging Het
Brd8 A T 18: 34,606,687 F678I probably damaging Het
Col27a1 T A 4: 63,225,209 M378K probably benign Het
Dpy19l4 C A 4: 11,303,334 V196F probably damaging Het
Dst G T 1: 34,217,803 probably benign Het
Gm3106 T C 5: 94,221,053 V469A possibly damaging Het
Hsd17b1 T A 11: 101,080,044 Y275* probably null Het
Kdm3b A G 18: 34,795,709 E171G probably damaging Het
Klc1 T C 12: 111,781,642 probably benign Het
Mlkl G A 8: 111,314,980 R443W probably damaging Het
Mov10 A T 3: 104,801,002 V477E probably benign Het
Nacad A G 11: 6,600,933 S753P probably damaging Het
Ncapd2 A C 6: 125,173,612 M842R probably benign Het
Nkd2 C A 13: 73,821,379 A311S probably benign Het
Nrg1 A G 8: 31,824,580 probably benign Het
Olfr1310 A G 2: 112,008,608 Y193H probably benign Het
Olfr780 A G 10: 129,322,168 I182V probably benign Het
Pde6h A G 6: 136,959,282 S8G probably null Het
Pik3c2b A G 1: 133,079,745 K616E probably benign Het
Pnpt1 A T 11: 29,132,845 R54S probably benign Het
Rttn A G 18: 88,975,751 D184G probably damaging Het
Skint5 T A 4: 113,717,087 I756F unknown Het
Slc24a2 T C 4: 87,226,906 T304A probably benign Het
Spata5 T C 3: 37,464,651 I778T probably damaging Het
Stk3 A T 15: 35,099,426 probably benign Het
Trim69 A G 2: 122,167,647 I33M probably benign Het
Ube2q2 A T 9: 55,195,039 probably benign Het
Vmn1r67 T A 7: 10,447,467 N158K probably benign Het
Wipi2 G A 5: 142,663,102 E252K probably benign Het
Other mutations in 1700012B09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R8030:1700012B09Rik UTSW 9 14761674 missense probably benign
Posted On2016-08-02