Incidental Mutation 'IGL02692:1700017N19Rik'
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ID303784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700017N19Rik
Ensembl Gene ENSMUSG00000056912
Gene NameRIKEN cDNA 1700017N19 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02692
Quality Score
Status
Chromosome10
Chromosomal Location100590484-100618401 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 100603548 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 72 (S72R)
Ref Sequence ENSEMBL: ENSMUSP00000140717 (fasta)
Gene Model
Predicted Effect probably benign
Transcript: ENSMUST00000041162
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000186825
Predicted Effect probably benign
Transcript: ENSMUST00000187119
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000188736
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000188930
Predicted Effect probably benign
Transcript: ENSMUST00000190386
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000190708
AA Change: S194R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000191336
AA Change: S72R

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000218464
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,952,808 V9A probably damaging Het
Actl11 A G 9: 107,929,308 N277D probably benign Het
Adam2 T A 14: 66,074,087 I57F probably damaging Het
Adgrf1 T C 17: 43,303,778 F251S probably damaging Het
Anapc15-ps T C 10: 95,673,227 I64V probably benign Het
Anapc4 T C 5: 52,864,529 V651A probably damaging Het
Atl2 T C 17: 79,865,053 N163D probably benign Het
B4galnt3 G A 6: 120,210,311 R708C probably damaging Het
Capza2 C T 6: 17,654,116 Q56* probably null Het
Cspg4 T A 9: 56,887,454 H824Q probably benign Het
Dock7 G A 4: 98,987,386 P1106S probably damaging Het
Fat4 A G 3: 38,951,086 Y1878C probably damaging Het
Grk2 A T 19: 4,290,688 probably benign Het
Lmbrd2 G A 15: 9,149,068 V13I possibly damaging Het
Loxhd1 G T 18: 77,356,913 C336F probably damaging Het
Morc1 T A 16: 48,510,233 F355L probably null Het
Mov10 C A 3: 104,800,803 E503* probably null Het
Nt5dc3 T A 10: 86,804,778 probably null Het
Olfr317 A G 11: 58,732,517 V216A probably benign Het
Phf20 T A 2: 156,298,578 M724K probably damaging Het
Pla2g2e G T 4: 138,882,559 probably benign Het
Polq T A 16: 37,060,627 V772E probably damaging Het
Rhoh A G 5: 65,892,800 R138G probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sept7 A G 9: 25,296,490 probably benign Het
Serpina9 A C 12: 104,008,406 F163V probably damaging Het
Slc2a13 A T 15: 91,321,658 F442Y probably benign Het
Slc34a1 G A 13: 55,403,236 probably benign Het
Slc6a11 T C 6: 114,162,139 F236S probably damaging Het
Usp1 A G 4: 98,928,960 K130E probably benign Het
Zfp386 A G 12: 116,059,235 E156G probably damaging Het
Zfp957 C T 14: 79,213,385 V325I unknown Het
Other mutations in 1700017N19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01565:1700017N19Rik APN 10 100603360 missense probably damaging 1.00
IGL02159:1700017N19Rik APN 10 100610665 missense probably damaging 1.00
IGL02556:1700017N19Rik APN 10 100610717 critical splice donor site probably null
IGL02629:1700017N19Rik APN 10 100609144 splice site probably benign
IGL02962:1700017N19Rik APN 10 100610593 splice site probably null
R0145:1700017N19Rik UTSW 10 100601921 missense probably damaging 0.96
R0402:1700017N19Rik UTSW 10 100609253 missense probably damaging 0.99
R1514:1700017N19Rik UTSW 10 100612867 missense probably damaging 1.00
R1519:1700017N19Rik UTSW 10 100603528 missense probably damaging 0.98
R1680:1700017N19Rik UTSW 10 100603528 missense probably damaging 0.98
R1686:1700017N19Rik UTSW 10 100612860 missense probably damaging 0.97
R3951:1700017N19Rik UTSW 10 100615296 splice site probably benign
R3952:1700017N19Rik UTSW 10 100615296 splice site probably benign
R4423:1700017N19Rik UTSW 10 100605633 missense probably damaging 0.99
R4905:1700017N19Rik UTSW 10 100612818 unclassified probably null
R5507:1700017N19Rik UTSW 10 100609233 missense probably benign 0.02
R5898:1700017N19Rik UTSW 10 100612900 missense possibly damaging 0.56
R5898:1700017N19Rik UTSW 10 100615208 missense probably benign 0.20
R5977:1700017N19Rik UTSW 10 100615244 missense probably damaging 0.99
Z1088:1700017N19Rik UTSW 10 100605639 missense probably damaging 1.00
Posted On2015-04-16