Incidental Mutation 'IGL03284:1810013L24Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810013L24Rik
Ensembl Gene ENSMUSG00000022507
Gene NameRIKEN cDNA 1810013L24 gene
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.936) question?
Stock #IGL03284
Quality Score
Chromosomal Location8830100-8858922 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8855922 bp
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

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