Incidental Mutation 'IGL02277:1700017B05Rik'
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ID287376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700017B05Rik
Ensembl Gene ENSMUSG00000032300
Gene NameRIKEN cDNA 1700017B05 gene
SynonymsD9Ertd278e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #IGL02277
Quality Score
Status
Chromosome9
Chromosomal Location57253117-57262612 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 57258425 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 222 (G222D)
Ref Sequence ENSEMBL: ENSMUSP00000150884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034846] [ENSMUST00000213199] [ENSMUST00000215298] [ENSMUST00000217657]
Predicted Effect probably benign
Transcript: ENSMUST00000034846
AA Change: G222D

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: G222D

DomainStartEndE-ValueType
low complexity region 265 284 N/A INTRINSIC
low complexity region 293 299 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
low complexity region 649 675 N/A INTRINSIC
low complexity region 692 728 N/A INTRINSIC
low complexity region 785 799 N/A INTRINSIC
low complexity region 933 951 N/A INTRINSIC
low complexity region 963 977 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213199
AA Change: G222D

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214583
Predicted Effect probably benign
Transcript: ENSMUST00000215298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215426
Predicted Effect probably benign
Transcript: ENSMUST00000217657
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 46,001,061 D625G probably benign Het
Akr1c12 C T 13: 4,272,269 R258Q probably damaging Het
Akr1c20 T A 13: 4,514,405 E36D probably benign Het
Csn2 A G 5: 87,698,022 probably benign Het
Dennd5a T C 7: 109,897,969 I1084V possibly damaging Het
Dlg1 A G 16: 31,790,264 I259V probably damaging Het
Dpysl5 A G 5: 30,788,781 I344V probably damaging Het
Fcrl6 A G 1: 172,599,119 C87R probably damaging Het
Fras1 A G 5: 96,588,118 E524G probably benign Het
Gabpb2 A G 3: 95,189,284 V270A probably benign Het
Gm5591 T C 7: 38,520,432 D339G probably damaging Het
Gm5591 T A 7: 38,519,038 I804F possibly damaging Het
Ighv2-5 T A 12: 113,685,507 T109S possibly damaging Het
Ints4 T A 7: 97,487,458 L119Q probably damaging Het
Kansl3 A T 1: 36,348,947 D386E possibly damaging Het
Kdm3b A T 18: 34,823,664 H1224L probably damaging Het
Macf1 C A 4: 123,486,704 R1523L probably damaging Het
Myo1f A G 17: 33,579,861 probably null Het
Nup188 A G 2: 30,326,511 T776A possibly damaging Het
Olfr1305 T A 2: 111,873,580 I92F possibly damaging Het
Olfr1373 T A 11: 52,145,362 H56L probably damaging Het
Olfr357 G A 2: 36,997,184 probably null Het
Plxnb1 T A 9: 109,112,133 L1660Q probably damaging Het
Ppp1r17 A G 6: 56,026,138 D71G probably damaging Het
Ptprt T C 2: 161,547,381 Q1264R probably damaging Het
Rgl3 C T 9: 21,974,109 V642M probably damaging Het
Slc26a2 T C 18: 61,198,980 T460A probably damaging Het
Smtnl2 T A 11: 72,391,373 M395L probably damaging Het
St3gal5 A T 6: 72,142,200 T99S possibly damaging Het
Unc5b T C 10: 60,774,742 N421S probably benign Het
Zcchc17 G A 4: 130,327,221 T179M probably benign Het
Zfp369 T C 13: 65,284,932 S79P probably damaging Het
Other mutations in 1700017B05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:1700017B05Rik APN 9 57258246 missense probably damaging 1.00
IGL01287:1700017B05Rik APN 9 57257757 missense probably damaging 1.00
IGL01798:1700017B05Rik APN 9 57256638 missense probably benign 0.10
IGL01933:1700017B05Rik APN 9 57257367 missense possibly damaging 0.95
IGL02146:1700017B05Rik APN 9 57256740 missense possibly damaging 0.82
IGL02158:1700017B05Rik APN 9 57256619 unclassified probably null
IGL02707:1700017B05Rik APN 9 57258645 missense probably benign
IGL02887:1700017B05Rik APN 9 57258885 missense probably damaging 1.00
IGL02936:1700017B05Rik APN 9 57258404 missense possibly damaging 0.69
R0583:1700017B05Rik UTSW 9 57257643 missense probably benign 0.04
R0926:1700017B05Rik UTSW 9 57257549 missense probably damaging 0.99
R1812:1700017B05Rik UTSW 9 57257457 nonsense probably null
R1903:1700017B05Rik UTSW 9 57258352 missense possibly damaging 0.69
R4542:1700017B05Rik UTSW 9 57256592 missense probably damaging 1.00
R4596:1700017B05Rik UTSW 9 57257805 missense probably benign 0.03
R4631:1700017B05Rik UTSW 9 57257987 missense probably damaging 1.00
R4869:1700017B05Rik UTSW 9 57254205 missense probably damaging 1.00
R5265:1700017B05Rik UTSW 9 57258894 missense probably damaging 1.00
R5361:1700017B05Rik UTSW 9 57257185 missense probably damaging 1.00
R6216:1700017B05Rik UTSW 9 57257627 missense probably benign 0.33
R6356:1700017B05Rik UTSW 9 57254009 missense probably benign 0.11
R6579:1700017B05Rik UTSW 9 57254224 missense possibly damaging 0.89
R6774:1700017B05Rik UTSW 9 57256625 missense probably damaging 1.00
R6921:1700017B05Rik UTSW 9 57258736 missense probably damaging 1.00
Posted On2015-04-16