Incidental Mutation 'IGL02456:0610009O20Rik'
ID294156
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 0610009O20Rik
Ensembl Gene ENSMUSG00000024442
Gene NameRIKEN cDNA 0610009O20 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.191) question?
Stock #IGL02456
Quality Score
Status
Chromosome18
Chromosomal Location38250249-38262629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 38261124 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 458 (L458Q)
Ref Sequence ENSEMBL: ENSMUSP00000025314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025314]
Predicted Effect probably damaging
Transcript: ENSMUST00000025314
AA Change: L458Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025314
Gene: ENSMUSG00000024442
AA Change: L458Q

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
low complexity region 35 46 N/A INTRINSIC
low complexity region 127 140 N/A INTRINSIC
SEL1 244 277 1.53e2 SMART
SEL1 278 313 2.8e-9 SMART
SEL1 314 351 3.3e1 SMART
SEL1 352 385 1.31e0 SMART
SEL1 386 421 1.67e-7 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,394,961 Y174* probably null Het
Apc C A 18: 34,313,882 S1277* probably null Het
Atp8b5 A G 4: 43,365,578 T731A probably benign Het
Bcl2a1c T A 9: 114,330,390 F79I probably damaging Het
Brip1 G T 11: 86,065,099 L863I possibly damaging Het
Cbx4 T A 11: 119,082,112 K146* probably null Het
Ccdc36 G T 9: 108,406,621 T208K probably benign Het
Ces1a C T 8: 93,039,498 V163I possibly damaging Het
Ces5a C T 8: 93,528,644 probably benign Het
Cfhr1 A C 1: 139,556,393 N128K possibly damaging Het
Clcn3 T C 8: 60,941,357 D73G probably damaging Het
Cntnap1 T G 11: 101,178,129 I166S probably benign Het
Cntnap3 A T 13: 64,799,058 probably benign Het
Cntnap5c T A 17: 58,407,744 probably benign Het
Ddx23 A T 15: 98,647,549 V626E probably damaging Het
Gcm2 T C 13: 41,103,001 Y424C probably benign Het
Gm9964 A G 11: 79,296,370 F84L probably damaging Het
Grn T A 11: 102,436,104 D509E probably benign Het
Kdm5c G A X: 152,246,318 D343N probably damaging Het
Ly75 C T 2: 60,293,781 M1717I probably benign Het
Map1a C A 2: 121,298,653 P133T probably damaging Het
Mpp2 C A 11: 102,059,373 A552S possibly damaging Het
Mtr T C 13: 12,199,094 I897M probably damaging Het
Npas3 A T 12: 54,048,767 I337F probably damaging Het
Nup85 T C 11: 115,581,865 probably benign Het
Olfr118 T A 17: 37,672,449 M142K possibly damaging Het
Olfr325 T A 11: 58,581,198 L118H possibly damaging Het
Olfr517 A G 7: 108,869,050 Y35H probably benign Het
Olfr630 T A 7: 103,755,493 I31F possibly damaging Het
Olfr683 T C 7: 105,143,759 N184S probably damaging Het
Pdia4 A T 6: 47,803,495 D301E probably benign Het
Phf2 C A 13: 48,828,846 G134C unknown Het
Polr2h T A 16: 20,720,602 L112H probably damaging Het
Rbm47 G A 5: 66,027,021 R80C probably damaging Het
Sfmbt1 T C 14: 30,785,880 S286P probably damaging Het
Slc5a12 T C 2: 110,616,834 probably benign Het
Tacc2 T C 7: 130,626,261 S1559P probably benign Het
Tbc1d16 T G 11: 119,210,546 H46P probably damaging Het
Tbck A G 3: 132,734,714 probably benign Het
Tmtc4 A T 14: 122,925,962 probably null Het
Ttc13 T C 8: 124,690,361 probably null Het
Ttc17 T C 2: 94,362,785 probably benign Het
Vmn1r121 T A 7: 21,098,513 M1L possibly damaging Het
Vps13c T C 9: 67,952,976 S2825P probably damaging Het
Zan A C 5: 137,446,844 S1718A unknown Het
Zfp39 G T 11: 58,902,800 Y37* probably null Het
Zfp407 T C 18: 84,558,641 N1449S probably damaging Het
Zhx2 C A 15: 57,823,639 D801E possibly damaging Het
Other mutations in 0610009O20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:0610009O20Rik APN 18 38252860 missense probably damaging 0.96
R0134:0610009O20Rik UTSW 18 38261264 missense probably benign 0.37
R0225:0610009O20Rik UTSW 18 38261264 missense probably benign 0.37
R0511:0610009O20Rik UTSW 18 38254071 critical splice donor site probably null
R0560:0610009O20Rik UTSW 18 38254498 missense probably damaging 1.00
R1899:0610009O20Rik UTSW 18 38258342 missense probably benign 0.04
R3005:0610009O20Rik UTSW 18 38259959 missense possibly damaging 0.92
R3552:0610009O20Rik UTSW 18 38258365 splice site probably benign
R4418:0610009O20Rik UTSW 18 38261287 critical splice donor site probably null
Posted OnApr 16, 2015