Incidental Mutation 'IGL00769:1700001P01Rik'
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Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700001P01Rik
Ensembl Gene ENSMUSG00000018543
Gene NameRIKEN cDNA 1700001P01 gene
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock #IGL00769
Quality Score
Chromosomal Location97771481-97775918 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97771581 bp
Amino Acid Change Phenylalanine to Serine at position 155 (F155S)
Ref Sequence ENSEMBL: ENSMUSP00000103202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107576]
Predicted Effect probably damaging
Transcript: ENSMUST00000107576
AA Change: F155S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103202
Gene: ENSMUSG00000018543
AA Change: F155S

Pfam:DUF4542 12 146 5.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120130
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,948,212 V516A possibly damaging Het
A730017C20Rik T C 18: 59,072,277 S88P probably damaging Het
Ambp G A 4: 63,144,165 T279I probably damaging Het
Ankrd28 A G 14: 31,743,365 V285A possibly damaging Het
Arfgef3 A G 10: 18,660,604 S220P probably benign Het
Atp9b G T 18: 80,912,853 H129N probably benign Het
Cdh10 C A 15: 18,985,099 P283Q possibly damaging Het
Cep295 A G 9: 15,326,144 S1941P probably damaging Het
Dmbt1 T A 7: 131,082,500 S575R probably damaging Het
Dock11 A G X: 36,004,062 N796S possibly damaging Het
Enam A T 5: 88,501,484 Y284F possibly damaging Het
F8 A T X: 75,334,180 probably benign Het
Fbxo42 C T 4: 141,180,449 T140M probably damaging Het
Galnt13 G A 2: 54,880,104 E303K probably benign Het
Mrgprb4 T A 7: 48,198,901 D93V probably benign Het
Msl3 T A X: 168,668,748 E215V probably damaging Het
Pglyrp3 A T 3: 92,014,622 probably benign Het
Prdx1 G A 4: 116,692,965 D115N probably benign Het
Psd3 A T 8: 67,908,679 probably benign Het
Rundc1 A G 11: 101,434,274 D602G probably damaging Het
Slc4a1ap T G 5: 31,553,777 Y742D probably damaging Het
Ugt1a6a C T 1: 88,139,050 P193S probably damaging Het
Vmn2r96 G A 17: 18,583,819 V252M probably benign Het
Wdr53 G A 16: 32,256,497 W173* probably null Het
Other mutations in 1700001P01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02372:1700001P01Rik APN 11 97775699 missense probably damaging 1.00
R1720:1700001P01Rik UTSW 11 97771609 missense probably damaging 1.00
R3684:1700001P01Rik UTSW 11 97775699 missense probably damaging 1.00
R4592:1700001P01Rik UTSW 11 97771615 missense probably damaging 1.00
R5250:1700001P01Rik UTSW 11 97772727 missense possibly damaging 0.92
X0020:1700001P01Rik UTSW 11 97775663 nonsense probably null
X0063:1700001P01Rik UTSW 11 97775805 missense probably damaging 0.98
Posted On2012-12-06