Incidental Mutation 'IGL00468:1700109H08Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700109H08Rik
Ensembl Gene ENSMUSG00000008307
Gene NameRIKEN cDNA 1700109H08 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL00468
Quality Score
Chromosomal Location3571566-3584356 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3580453 bp
Amino Acid Change Glutamic Acid to Glycine at position 123 (E123G)
Ref Sequence ENSEMBL: ENSMUSP00000008451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008451] [ENSMUST00000042753] [ENSMUST00000125740] [ENSMUST00000147801]
Predicted Effect probably damaging
Transcript: ENSMUST00000008451
AA Change: E123G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307
AA Change: E123G

EFh 68 96 1.56e-3 SMART
EFh 104 132 6.45e1 SMART
EFh 149 177 1.45e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042753
SMART Domains Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302

Pfam:RRM_5 104 164 6.5e-11 PFAM
low complexity region 229 239 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125740
SMART Domains Protein: ENSMUSP00000117825
Gene: ENSMUSG00000008307

Pfam:EF-hand_1 27 55 1e-8 PFAM
Pfam:EF-hand_6 27 62 8.3e-8 PFAM
Predicted Effect silent
Transcript: ENSMUST00000147801
SMART Domains Protein: ENSMUSP00000118797
Gene: ENSMUSG00000008307

Pfam:EF-hand_1 68 96 1.2e-7 PFAM
Pfam:EF-hand_6 68 99 1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156973
Predicted Effect probably benign
Transcript: ENSMUST00000176000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198718
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A T 18: 65,305,823 L1300Q probably benign Het
Armc9 T C 1: 86,198,339 Y51H probably damaging Het
Bcl11b A G 12: 107,965,815 V166A possibly damaging Het
Cfap70 T A 14: 20,412,462 D565V possibly damaging Het
Cops5 C A 1: 10,034,070 G132W probably damaging Het
Dync1i1 G A 6: 5,972,135 V468M probably damaging Het
Fam126b T G 1: 58,530,232 E396A probably benign Het
Fasn A C 11: 120,820,539 D216E probably damaging Het
Fktn T A 4: 53,734,866 I168K probably benign Het
Gal3st2c A G 1: 94,009,049 R239G probably benign Het
Glt6d1 A C 2: 25,811,029 L36R probably damaging Het
Herc3 A G 6: 58,918,766 I1000V probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lhcgr C T 17: 88,742,446 V551I probably benign Het
Lmna G T 3: 88,484,684 S437R probably benign Het
Lrrc49 A G 9: 60,687,868 probably benign Het
Lrriq3 A G 3: 155,101,179 D155G probably damaging Het
Mcf2 G A X: 60,133,735 T104I probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep A G 14: 60,875,260 E664G probably benign Het
Mybpc1 A T 10: 88,549,262 V519D probably damaging Het
Nfil3 C A 13: 52,967,574 L431F probably damaging Het
Sctr T A 1: 120,044,720 V197E probably damaging Het
Sesn2 T C 4: 132,499,813 T103A probably benign Het
Sptbn4 A T 7: 27,417,965 V453D probably damaging Het
Supt5 A T 7: 28,315,382 H1023Q probably benign Het
Tcof1 T C 18: 60,814,568 probably benign Het
Tekt2 T A 4: 126,323,189 E262D possibly damaging Het
Tenm4 T A 7: 96,874,472 H1732Q probably damaging Het
Tln2 T C 9: 67,344,187 D840G possibly damaging Het
Tox4 A G 14: 52,285,745 D54G probably damaging Het
Other mutations in 1700109H08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01948:1700109H08Rik APN 5 3577326 missense probably damaging 1.00
IGL02040:1700109H08Rik APN 5 3580405 missense probably damaging 1.00
IGL02558:1700109H08Rik APN 5 3582194 makesense probably null
IGL02719:1700109H08Rik APN 5 3582150 missense probably damaging 1.00
R1831:1700109H08Rik UTSW 5 3577255 missense probably damaging 1.00
R2520:1700109H08Rik UTSW 5 3575773 missense probably damaging 1.00
R3915:1700109H08Rik UTSW 5 3577248 missense possibly damaging 0.69
R4594:1700109H08Rik UTSW 5 3575754 missense probably damaging 1.00
R6197:1700109H08Rik UTSW 5 3580442 nonsense probably null
R8361:1700109H08Rik UTSW 5 3582153 missense possibly damaging 0.84
R8747:1700109H08Rik UTSW 5 3582240 missense probably benign 0.03
Posted On2012-04-20