Incidental Mutation 'IGL01011:1700017B05Rik'
ID53755
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: 0.220) question?
Stock #IGL01011
Quality Score
Status
Chromosome9
Chromosomal Location57253117-57262612 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57258246 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 282 (C282S)
Ref Sequence ENSEMBL: ENSMUSP00000150884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034846] [ENSMUST00000213199] [ENSMUST00000215298] [ENSMUST00000217657]
Predicted Effect probably damaging
Transcript: ENSMUST00000034846
AA Change: C282S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: C282S

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 damaging
Transcript: ENSMUST00000213199
AA Change: C282S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,263,632 I2143V probably benign Het
Adgrg6 A C 10: 14,409,798 I1148S probably damaging Het
Aox4 C T 1: 58,240,775 R517* probably null Het
Arnt2 T A 7: 84,285,829 D289V probably benign Het
Atad2b A G 12: 4,965,984 N570S probably benign Het
Aven G A 2: 112,629,785 D208N possibly damaging Het
Bcl9l A G 9: 44,505,179 D183G possibly damaging Het
Cd300lf A G 11: 115,124,333 S144P probably benign Het
Chd8 C A 14: 52,231,532 G543V possibly damaging Het
Chrm2 A G 6: 36,524,438 N410S probably benign Het
Clip4 A G 17: 71,849,939 I590V probably benign Het
Cnbp C T 6: 87,845,700 R27H probably benign Het
Col4a3 T C 1: 82,682,301 V889A unknown Het
Cxcl5 T C 5: 90,760,523 probably benign Het
Dennd6a G T 14: 26,603,054 V171F probably damaging Het
Dhx38 T C 8: 109,562,691 I26V probably benign Het
Dscaml1 A G 9: 45,683,672 D691G possibly damaging Het
Etfdh A T 3: 79,612,061 probably benign Het
Fbn2 G A 18: 58,095,240 probably benign Het
Foxp2 T A 6: 15,438,019 *715R probably null Het
Ftl1 A T 7: 45,458,646 D65E probably benign Het
Galm A G 17: 80,183,280 T289A probably benign Het
Gm20721 A G 2: 174,345,738 D1049G probably damaging Het
Gm28778 T C 1: 53,299,118 V47A probably benign Het
Gm5414 T C 15: 101,628,134 S19G probably benign Het
Hdac7 T A 15: 97,793,935 E835D possibly damaging Het
Hist1h1t C T 13: 23,696,049 L62F probably damaging Het
Hspg2 C T 4: 137,559,335 T3663I probably damaging Het
Kdm4d A T 9: 14,464,219 D114E probably benign Het
Kif5a A T 10: 127,239,196 V516E probably benign Het
Lrrtm1 A G 6: 77,244,235 probably null Het
Miga1 G T 3: 152,276,690 T519K probably benign Het
Mtfr1l G A 4: 134,529,200 P182S probably damaging Het
Myo15 A G 11: 60,476,992 I193V probably benign Het
Myo1e T C 9: 70,316,589 probably benign Het
Olfr190 T A 16: 59,074,430 T217S probably benign Het
Olfr376 A T 11: 73,375,007 Q86L probably benign Het
Olfr541 A T 7: 140,704,437 Y62F probably damaging Het
Pias1 T C 9: 62,912,855 T277A probably benign Het
Slamf6 T A 1: 171,938,099 H263Q probably benign Het
Snrnp48 A G 13: 38,220,764 D202G probably damaging Het
Snx13 T A 12: 35,098,280 D269E probably damaging Het
Tiam2 A T 17: 3,415,028 D344V probably benign Het
Tmem62 G T 2: 120,979,219 K127N possibly damaging Het
Trav15-1-dv6-1 C T 14: 53,560,035 T46I possibly damaging Het
Trav16d-dv11 C T 14: 53,047,584 T39M possibly damaging Het
Trio T C 15: 27,736,489 D2794G probably damaging Het
Trpc7 C T 13: 56,804,540 G551D probably damaging Het
Ttc37 G A 13: 76,122,665 C127Y probably damaging Het
Ttn A G 2: 76,814,290 V11294A possibly damaging Het
Ubap2 G A 4: 41,195,328 probably benign Het
Ubap2l G A 3: 90,009,256 Q915* probably null Het
Ubfd1 A G 7: 122,078,472 E340G probably benign Het
Vil1 T C 1: 74,434,887 probably null Het
Vmn1r6 T G 6: 57,002,544 L42V probably benign Het
Vps13c A G 9: 67,926,955 T1635A probably damaging Het
Zfhx3 T A 8: 108,793,594 H449Q probably benign Het
Zfp750 A T 11: 121,513,096 S318T probably benign Het
Other mutations in 1700017B05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02277:1700017B05Rik APN 9 57258425 missense probably benign 0.05
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
R7089:1700017B05Rik UTSW 9 57258758 missense probably damaging 1.00
R7196:1700017B05Rik UTSW 9 57258222 frame shift probably null
R7197:1700017B05Rik UTSW 9 57258222 frame shift probably null
Posted On2013-06-28