Incidental Mutation 'IGL00546:9130008F23Rik'
ID8494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9130008F23Rik
Ensembl Gene ENSMUSG00000054951
Gene NameRIKEN cDNA 9130008F23 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL00546
Quality Score
Status
Chromosome17
Chromosomal Location40875482-40880558 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 40880113 bp
ZygosityHeterozygous
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