Incidental Mutation 'IGL02146:1700017B05Rik'
ID 281755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700017B05Rik
Ensembl Gene ENSMUSG00000032300
Gene Name RIKEN cDNA 1700017B05 gene
Synonyms D9Ertd278e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # IGL02146
Quality Score
Status
Chromosome 9
Chromosomal Location 57160400-57169895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57164023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 784 (C784R)
Ref Sequence ENSEMBL: ENSMUSP00000150884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034846] [ENSMUST00000213199] [ENSMUST00000215298] [ENSMUST00000217657]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034846
AA Change: C784R

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: C784R

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 possibly damaging
Transcript: ENSMUST00000213199
AA Change: C784R

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 A T 1: 87,054,297 (GRCm39) D278V probably benign Het
Atxn7l1 G T 12: 33,418,030 (GRCm39) R730S probably benign Het
Bag6 A G 17: 35,355,191 (GRCm39) T30A probably damaging Het
Blk G T 14: 63,611,648 (GRCm39) P429H probably damaging Het
Bmp2k T A 5: 97,212,689 (GRCm39) M524K unknown Het
Bst1 T A 5: 43,983,678 (GRCm39) H221Q probably damaging Het
Ces2g T C 8: 105,693,576 (GRCm39) I419T possibly damaging Het
Cnep1r1 T C 8: 88,856,326 (GRCm39) V34A probably benign Het
Ctnnbl1 A G 2: 157,661,414 (GRCm39) E308G probably damaging Het
Cyp20a1 A T 1: 60,410,410 (GRCm39) K237I possibly damaging Het
Dlg5 T C 14: 24,252,429 (GRCm39) T104A probably damaging Het
Dnaaf11 C T 15: 66,361,374 (GRCm39) W42* probably null Het
Dnaaf11 C A 15: 66,361,375 (GRCm39) W42L probably benign Het
Dnah9 C T 11: 65,818,526 (GRCm39) V3271M probably damaging Het
Eed T A 7: 89,618,803 (GRCm39) N204Y possibly damaging Het
Fat3 A G 9: 15,910,878 (GRCm39) V1708A probably benign Het
Fcrl6 T C 1: 172,426,264 (GRCm39) T178A probably benign Het
Galnt4 A C 10: 98,945,563 (GRCm39) K429N possibly damaging Het
Ints6 T A 14: 62,996,709 (GRCm39) T94S possibly damaging Het
Iqsec3 A T 6: 121,360,916 (GRCm39) S981T probably damaging Het
Itga9 T A 9: 118,663,400 (GRCm39) S146T possibly damaging Het
Itpr3 A G 17: 27,336,249 (GRCm39) Y2325C probably damaging Het
Kng2 T A 16: 22,806,582 (GRCm39) Q539L probably damaging Het
Lmtk3 T A 7: 45,444,371 (GRCm39) probably benign Het
Map1a T C 2: 121,129,927 (GRCm39) Y248H probably damaging Het
Mroh1 A G 15: 76,318,879 (GRCm39) probably benign Het
Mroh2b T C 15: 4,980,776 (GRCm39) probably null Het
Myo18b A T 5: 112,991,151 (GRCm39) M942K probably damaging Het
Myzap T A 9: 71,471,730 (GRCm39) T94S probably benign Het
Nebl C A 2: 17,353,679 (GRCm39) R957S probably damaging Het
Nexn A T 3: 151,952,885 (GRCm39) D278E probably benign Het
Nlgn1 A T 3: 25,966,846 (GRCm39) N222K probably damaging Het
Or6c76 T A 10: 129,612,727 (GRCm39) probably benign Het
Or8d1 G A 9: 38,766,654 (GRCm39) A99T probably benign Het
Osbpl6 A T 2: 76,380,094 (GRCm39) R79S possibly damaging Het
Phip T C 9: 82,763,771 (GRCm39) I1268M probably benign Het
Pkd2 G T 5: 104,637,157 (GRCm39) R590L probably damaging Het
Reg2 G A 6: 78,382,568 (GRCm39) probably benign Het
Scaf1 A T 7: 44,662,934 (GRCm39) D26E probably damaging Het
Ska1 A G 18: 74,329,981 (GRCm39) I253T possibly damaging Het
Slc11a2 T C 15: 100,299,169 (GRCm39) N443D probably damaging Het
Slc6a12 A T 6: 121,330,460 (GRCm39) T155S probably benign Het
Slit3 A G 11: 35,125,675 (GRCm39) K118R possibly damaging Het
Snap23 T G 2: 120,429,792 (GRCm39) N212K probably damaging Het
Snx13 T A 12: 35,151,078 (GRCm39) D346E probably benign Het
Sumf1 C A 6: 108,150,392 (GRCm39) probably null Het
Susd2 T C 10: 75,474,267 (GRCm39) N479S possibly damaging Het
Tiam1 A G 16: 89,646,569 (GRCm39) I821T probably benign Het
Tll2 C A 19: 41,086,276 (GRCm39) V651L probably benign Het
Vmn2r1 A G 3: 64,012,104 (GRCm39) D655G probably benign Het
Vmn2r72 T C 7: 85,387,170 (GRCm39) Y798C probably damaging Het
Vps13b A C 15: 35,646,479 (GRCm39) I1528L probably benign Het
Wdtc1 G A 4: 133,029,076 (GRCm39) L337F probably benign Het
Zfp128 A C 7: 12,623,959 (GRCm39) K109T possibly damaging Het
Other mutations in 1700017B05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:1700017B05Rik APN 9 57,165,529 (GRCm39) missense probably damaging 1.00
IGL01287:1700017B05Rik APN 9 57,165,040 (GRCm39) missense probably damaging 1.00
IGL01798:1700017B05Rik APN 9 57,163,921 (GRCm39) missense probably benign 0.10
IGL01933:1700017B05Rik APN 9 57,164,650 (GRCm39) missense possibly damaging 0.95
IGL02158:1700017B05Rik APN 9 57,163,902 (GRCm39) splice site probably null
IGL02277:1700017B05Rik APN 9 57,165,708 (GRCm39) missense probably benign 0.05
IGL02707:1700017B05Rik APN 9 57,165,928 (GRCm39) missense probably benign
IGL02887:1700017B05Rik APN 9 57,166,168 (GRCm39) missense probably damaging 1.00
IGL02936:1700017B05Rik APN 9 57,165,687 (GRCm39) missense possibly damaging 0.69
R0583:1700017B05Rik UTSW 9 57,164,926 (GRCm39) missense probably benign 0.04
R0926:1700017B05Rik UTSW 9 57,164,832 (GRCm39) missense probably damaging 0.99
R1812:1700017B05Rik UTSW 9 57,164,740 (GRCm39) nonsense probably null
R1903:1700017B05Rik UTSW 9 57,165,635 (GRCm39) missense possibly damaging 0.69
R4542:1700017B05Rik UTSW 9 57,163,875 (GRCm39) missense probably damaging 1.00
R4596:1700017B05Rik UTSW 9 57,165,088 (GRCm39) missense probably benign 0.03
R4631:1700017B05Rik UTSW 9 57,165,270 (GRCm39) missense probably damaging 1.00
R4869:1700017B05Rik UTSW 9 57,161,488 (GRCm39) missense probably damaging 1.00
R5265:1700017B05Rik UTSW 9 57,166,177 (GRCm39) missense probably damaging 1.00
R5361:1700017B05Rik UTSW 9 57,164,468 (GRCm39) missense probably damaging 1.00
R6216:1700017B05Rik UTSW 9 57,164,910 (GRCm39) missense probably benign 0.33
R6356:1700017B05Rik UTSW 9 57,161,292 (GRCm39) missense probably benign 0.11
R6579:1700017B05Rik UTSW 9 57,161,507 (GRCm39) missense possibly damaging 0.89
R6774:1700017B05Rik UTSW 9 57,163,908 (GRCm39) missense probably damaging 1.00
R6921:1700017B05Rik UTSW 9 57,166,019 (GRCm39) missense probably damaging 1.00
R7089:1700017B05Rik UTSW 9 57,166,041 (GRCm39) missense probably damaging 1.00
R7196:1700017B05Rik UTSW 9 57,165,505 (GRCm39) frame shift probably null
R7197:1700017B05Rik UTSW 9 57,165,505 (GRCm39) frame shift probably null
R7728:1700017B05Rik UTSW 9 57,163,822 (GRCm39) missense probably damaging 1.00
R7770:1700017B05Rik UTSW 9 57,165,894 (GRCm39) missense probably damaging 0.99
R7812:1700017B05Rik UTSW 9 57,165,141 (GRCm39) missense probably damaging 0.99
R8141:1700017B05Rik UTSW 9 57,165,688 (GRCm39) missense probably benign
R8144:1700017B05Rik UTSW 9 57,166,388 (GRCm39) start gained probably benign
R8925:1700017B05Rik UTSW 9 57,165,805 (GRCm39) nonsense probably null
R8927:1700017B05Rik UTSW 9 57,165,805 (GRCm39) nonsense probably null
R9186:1700017B05Rik UTSW 9 57,164,472 (GRCm39) missense probably damaging 0.99
R9194:1700017B05Rik UTSW 9 57,166,371 (GRCm39) start codon destroyed probably null 1.00
R9299:1700017B05Rik UTSW 9 57,163,792 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16