Incidental Mutation 'IGL01968:1700001L19Rik'
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Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700001L19Rik
Ensembl Gene ENSMUSG00000021534
Gene NameRIKEN cDNA 1700001L19 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL01968
Quality Score
Chromosomal Location68597421-68614231 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 68611244 bp
Amino Acid Change Histidine to Glutamine at position 112 (H112Q)
Ref Sequence ENSEMBL: ENSMUSP00000152877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022007] [ENSMUST00000222604]
Predicted Effect probably damaging
Transcript: ENSMUST00000022007
AA Change: H112Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022007
Gene: ENSMUSG00000021534
AA Change: H112Q

low complexity region 15 42 N/A INTRINSIC
Pfam:DUF4541 77 168 1.2e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000222604
AA Change: H112Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T A 13: 105,119,830 M469K probably damaging Het
Abcb4 A G 5: 8,927,913 D497G probably benign Het
Adgra2 A T 8: 27,121,235 R856* probably null Het
Chodl T A 16: 78,941,669 S138T probably damaging Het
Dnah8 C T 17: 30,656,598 R465* probably null Het
Fgfr2 A G 7: 130,185,248 W358R probably damaging Het
Iqgap2 G T 13: 95,635,582 A1363E possibly damaging Het
Malt1 T A 18: 65,449,016 I317K probably benign Het
Mrps5 A G 2: 127,591,907 N72S probably null Het
Mst1r T A 9: 107,916,806 probably null Het
Nars A T 18: 64,507,858 C176S probably damaging Het
Olfr723 A T 14: 49,929,098 W149R probably damaging Het
Plxna4 T G 6: 32,215,204 D817A possibly damaging Het
Plxnb1 C T 9: 109,100,984 P303S probably benign Het
Prkd2 G T 7: 16,869,576 probably null Het
Sulf1 A T 1: 12,818,451 H320L probably damaging Het
Use1 G A 8: 71,367,067 probably benign Het
Vmn2r6 T C 3: 64,556,345 D356G possibly damaging Het
Other mutations in 1700001L19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02947:1700001L19Rik APN 13 68611193 missense probably benign 0.08
R1510:1700001L19Rik UTSW 13 68597477 start codon destroyed probably null 0.02
R1942:1700001L19Rik UTSW 13 68612971 missense probably benign 0.00
R3815:1700001L19Rik UTSW 13 68611225 missense probably damaging 1.00
Posted On2014-05-07