Incidental Mutation 'IGL03284:1810013L24Rik'
ID415656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810013L24Rik
Ensembl Gene ENSMUSG00000022507
Gene NameRIKEN cDNA 1810013L24 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.936) question?
Stock #IGL03284
Quality Score
Status
Chromosome16
Chromosomal Location8830100-8858922 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8855922 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 238 (I238V)
Ref Sequence ENSEMBL: ENSMUSP00000023150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023150]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023150
AA Change: I238V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023150
Gene: ENSMUSG00000022507
AA Change: I238V

DomainStartEndE-ValueType
Pfam:DUF4588 25 273 8.6e-107 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,786,338 probably benign Het
Atxn7l3b T C 10: 112,928,526 D66G probably benign Het
Dmac2 T C 7: 25,622,426 probably null Het
Ephb2 A G 4: 136,661,516 M590T probably damaging Het
Fbxo41 C T 6: 85,479,765 R474H probably damaging Het
Fcgbp G T 7: 28,085,432 A306S possibly damaging Het
Gm7257 T A 9: 36,433,463 C96S probably damaging Het
Hmg20a A G 9: 56,481,617 D156G probably benign Het
Mast4 A G 13: 102,751,397 V1168A probably damaging Het
Oog2 A G 4: 144,196,607 probably benign Het
Pkhd1l1 T A 15: 44,547,518 probably benign Het
Psmd6 A T 14: 14,112,546 N351K probably benign Het
Ralgps1 T C 2: 33,146,565 probably benign Het
Rbl1 C T 2: 157,194,069 probably benign Het
Smarcc1 G A 9: 110,175,074 V399I probably benign Het
Srek1 C A 13: 103,760,537 V99F probably damaging Het
Styxl1 A G 5: 135,757,095 V32A possibly damaging Het
Tnn C T 1: 160,125,452 V673I probably benign Het
Vmn2r107 T A 17: 20,356,911 D390E probably benign Het
Other mutations in 1810013L24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:1810013L24Rik APN 16 8831311 unclassified probably benign
R1966:1810013L24Rik UTSW 16 8830581 missense possibly damaging 0.85
R3816:1810013L24Rik UTSW 16 8830494 missense probably damaging 1.00
R5049:1810013L24Rik UTSW 16 8843209 missense probably damaging 1.00
R5490:1810013L24Rik UTSW 16 8855857 missense probably damaging 0.97
R6735:1810013L24Rik UTSW 16 8855900 missense probably benign 0.01
R6922:1810013L24Rik UTSW 16 8830689 splice site probably null
R7720:1810013L24Rik UTSW 16 8843102 missense probably damaging 1.00
R8057:1810013L24Rik UTSW 16 8830368 unclassified probably benign
Posted On2016-08-02