Incidental Mutation 'IGL02158:1700017B05Rik'
ID282323
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? Possibly non essential (E-score: 0.254) question?
Stock #IGL02158
Quality Score
Status
Chromosome9
Chromosomal Location57253117-57262612 bp(-) (GRCm38)
Type of Mutationunclassified (2155 bp from exon)
DNA Base Change (assembly) A to T at 57256619 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034846] [ENSMUST00000213199] [ENSMUST00000215298] [ENSMUST00000217657]
Predicted Effect probably damaging
Transcript: ENSMUST00000034846
AA Change: L824Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: L824Q

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: L824Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214583
Predicted Effect probably benign
Transcript: ENSMUST00000215298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215426
Predicted Effect probably null
Transcript: ENSMUST00000217657
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,447,879 probably benign Het
Abcb11 A T 2: 69,299,925 S262R probably damaging Het
Abhd12 T A 2: 150,848,421 Q118L probably benign Het
Adam1a A T 5: 121,518,971 L753* probably null Het
Ahctf1 A T 1: 179,779,652 I699N possibly damaging Het
Arl11 C A 14: 61,311,038 A99E probably damaging Het
Atp5o G A 16: 91,930,401 R16W probably damaging Het
AW551984 T C 9: 39,599,325 H238R probably null Het
Bpifb9a C A 2: 154,266,813 probably benign Het
Carhsp1 A G 16: 8,663,713 probably benign Het
Ccdc33 T C 9: 58,030,419 D623G probably damaging Het
Chd6 C A 2: 161,026,292 R378L possibly damaging Het
Chn2 T C 6: 54,300,245 probably benign Het
Clgn T G 8: 83,423,136 I422S probably damaging Het
Col15a1 T A 4: 47,300,606 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2c39 T C 19: 39,568,130 I470T probably benign Het
Dcaf11 T A 14: 55,564,523 probably null Het
Dnah1 G T 14: 31,300,967 T1071K probably benign Het
Dnah2 T A 11: 69,458,123 M2513L probably benign Het
Dqx1 A G 6: 83,058,910 probably benign Het
Gm1587 T C 14: 77,798,842 E8G unknown Het
Hydin T C 8: 110,609,966 I5125T possibly damaging Het
Ighv5-9 G T 12: 113,661,943 P60Q probably damaging Het
Itga7 T G 10: 128,953,782 L993R possibly damaging Het
Itpr3 A G 17: 27,098,442 N857S probably damaging Het
Krt23 C T 11: 99,492,664 probably benign Het
Lrp1 T C 10: 127,554,271 N3093S probably benign Het
Mms22l T C 4: 24,505,349 F203S probably damaging Het
Morn5 A G 2: 36,057,076 D122G probably damaging Het
Mpp2 G T 11: 102,063,262 L220I probably benign Het
Mrgpra6 A T 7: 47,185,952 Y240* probably null Het
Mtmr12 T C 15: 12,237,930 I165T probably damaging Het
Mylk2 C A 2: 152,919,157 N428K probably damaging Het
Nfil3 A G 13: 52,968,152 Y239H probably damaging Het
Notch1 A G 2: 26,460,339 L2263P probably damaging Het
Olfr130 T A 17: 38,067,267 I32N probably damaging Het
Olfr888 A G 9: 38,109,129 M148V probably benign Het
P3h3 A T 6: 124,853,092 Y387N probably damaging Het
Pdcd6ip A T 9: 113,680,053 Y324* probably null Het
Plcb2 C A 2: 118,711,363 R922L probably benign Het
Pml T C 9: 58,247,003 T196A probably benign Het
Ppp2r1b C A 9: 50,861,609 Q65K probably benign Het
Ric8a A G 7: 140,862,357 T507A probably benign Het
Sec16a A G 2: 26,416,632 probably null Het
Slc46a3 G T 5: 147,886,234 T266N probably damaging Het
Smg1 A G 7: 118,212,946 S41P possibly damaging Het
Snrnp200 T A 2: 127,237,483 N1837K probably benign Het
Sptan1 A G 2: 30,030,324 T2318A probably damaging Het
St7l C T 3: 104,874,832 T175I possibly damaging Het
Tmc7 G A 7: 118,538,211 R703C probably damaging Het
Urah A G 7: 140,836,886 probably benign Het
Vmn1r42 A T 6: 89,845,314 I91N probably damaging Het
Yy1 T A 12: 108,814,599 probably benign 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
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 On2015-04-16