Incidental Mutation 'IGL01968:1700001L19Rik'
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ID181590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700001L19Rik
Ensembl Gene ENSMUSG00000021534
Gene NameRIKEN cDNA 1700001L19 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL01968
Quality Score
Status
Chromosome13
Chromosomal Location68597421-68614231 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 68611244 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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