Incidental Mutation 'IGL00546:9130008F23Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9130008F23Rik
Ensembl Gene ENSMUSG00000054951
Gene NameRIKEN cDNA 9130008F23 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL00546
Quality Score
Chromosomal Location40875482-40880558 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 40880113 bp
Amino Acid Change Valine to Leucine at position 142 (V142L)
Ref Sequence ENSEMBL: ENSMUSP00000069779 (fasta)
Predicted Effect possibly damaging
Transcript: ENSMUST00000068258
AA Change: V142L

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik T C 17: 48,090,576 V127A possibly damaging Het
Adnp2 T C 18: 80,128,867 T776A probably benign Het
Arid4a T A 12: 71,075,671 V942E probably benign Het
Bdnf C T 2: 109,723,547 P89S probably benign Het
Camsap3 A G 8: 3,602,077 D302G probably damaging Het
Cnot6 A T 11: 49,685,266 S158T probably benign Het
Dbt A C 3: 116,539,281 K250Q probably benign Het
Exd2 A G 12: 80,480,547 I171M probably benign Het
Gm5415 A T 1: 32,546,667 M54K probably benign Het
Ints14 A T 9: 64,972,792 N196I probably benign Het
Krt79 G T 15: 101,929,873 N482K probably benign Het
Loxhd1 G A 18: 77,405,976 A678T probably damaging Het
Mkl2 C A 16: 13,403,222 A754D probably benign Het
Mkl2 T G 16: 13,403,225 L766R possibly damaging Het
Mrpl51 A G 6: 125,193,214 probably benign Het
Nipsnap1 A G 11: 4,889,098 E126G possibly damaging Het
Plxnb2 A G 15: 89,162,366 probably benign Het
Slc15a5 A G 6: 138,043,538 Y266H probably damaging Het
Ttn C A 2: 76,867,473 D73Y probably damaging Het
Other mutations in 9130008F23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0458:9130008F23Rik UTSW 17 40880236 missense probably benign 0.00
R1400:9130008F23Rik UTSW 17 40880304 missense probably damaging 0.98
R1828:9130008F23Rik UTSW 17 40880071 missense probably benign 0.44
R1889:9130008F23Rik UTSW 17 40880302 missense probably damaging 1.00
R2417:9130008F23Rik UTSW 17 40880210 missense probably benign
R4993:9130008F23Rik UTSW 17 40880161 missense probably benign 0.18
Posted On2012-12-06