Incidental Mutation 'IGL00160:4930563D23Rik'
ID837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930563D23Rik
Ensembl Gene ENSMUSG00000051728
Gene NameRIKEN cDNA 4930563D23 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL00160
Quality Score
Status
Chromosome16
Chromosomal Location92318765-92321441 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92321002 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 133 (K133E)
Ref Sequence ENSEMBL: ENSMUSP00000049694 (fasta)
Predicted Effect possibly damaging
Transcript: ENSMUST00000062638
AA Change: K133E

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik G A 7: 34,239,006 H1035Y possibly damaging Het
4932414N04Rik C T 2: 68,732,875 A387V probably benign Het
Adamts3 C T 5: 89,861,325 V160I probably damaging Het
Arhgef26 T C 3: 62,340,383 V296A probably benign Het
Bdp1 A T 13: 100,061,198 M893K probably benign Het
Camk2d T A 3: 126,838,272 C407* probably null Het
Casc1 T A 6: 145,175,290 H601L probably benign Het
Ces1h T C 8: 93,357,463 D373G probably benign Het
Ces2f A T 8: 104,949,973 N100Y probably damaging Het
Ces2f A T 8: 104,949,972 Q99H probably damaging Het
Dlg5 T C 14: 24,191,161 T223A probably damaging Het
Dnmt3l A G 10: 78,057,355 D322G probably damaging Het
Fbxl20 C T 11: 98,090,674 G396D possibly damaging Het
Gldc T C 19: 30,115,240 T760A probably damaging Het
Gm6483 T A 8: 19,691,647 noncoding transcript Het
Hcrtr2 A T 9: 76,228,155 V460D possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mrgpra2a A T 7: 47,426,538 M324K probably damaging Het
N4bp3 C T 11: 51,645,316 A230T probably benign Het
Nphs1 T G 7: 30,482,551 W1204G possibly damaging Het
Obscn C A 11: 59,002,057 A6788S probably benign Het
Ofcc1 T C 13: 40,142,804 D518G probably damaging Het
Optc T C 1: 133,902,108 Y188C probably damaging Het
Prss45 C A 9: 110,841,005 A285E probably damaging Het
Rcan2 C T 17: 44,037,069 T223I possibly damaging Het
Snrnp70 A G 7: 45,377,354 probably null Het
Sorbs1 T A 19: 40,318,029 T1064S probably damaging Het
Sptb T C 12: 76,623,169 K462E probably damaging Het
Sstr1 A G 12: 58,212,750 E53G probably benign Het
Stxbp2 A T 8: 3,636,354 probably null Het
Tex35 G A 1: 157,099,756 probably benign Het
Thnsl1 T C 2: 21,212,449 F338S possibly damaging Het
Trpv1 C T 11: 73,260,362 A424V probably damaging Het
Unc80 A T 1: 66,654,395 H2535L possibly damaging Het
Usp46 T C 5: 74,002,686 E333G probably null Het
Vmn1r27 T C 6: 58,215,134 Y245C probably benign Het
Zfp488 T C 14: 33,971,069 M46V probably benign Het
Zfp566 G T 7: 30,078,511 Q82K probably benign Het
Znhit6 T C 3: 145,578,160 S62P probably damaging Het
Znrf3 T C 11: 5,289,039 H108R probably damaging Het
Other mutations in 4930563D23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:4930563D23Rik APN 16 92320773 missense probably benign 0.10
IGL02812:4930563D23Rik APN 16 92320728 missense probably damaging 0.98
IGL02981:4930563D23Rik APN 16 92320869 missense probably benign 0.05
R0458:4930563D23Rik UTSW 16 92321107 missense probably benign 0.00
R0826:4930563D23Rik UTSW 16 92321187 missense probably benign 0.05
R1456:4930563D23Rik UTSW 16 92320665 missense probably damaging 0.99
R1754:4930563D23Rik UTSW 16 92321031 missense probably damaging 0.98
R2568:4930563D23Rik UTSW 16 92321319 missense probably damaging 1.00
R5916:4930563D23Rik UTSW 16 92320671 missense probably damaging 1.00
R7148:4930563D23Rik UTSW 16 92320987 missense probably benign
R7195:4930563D23Rik UTSW 16 92321149 missense probably damaging 1.00
R7289:4930563D23Rik UTSW 16 92320822 missense probably damaging 1.00
R7638:4930563D23Rik UTSW 16 92320917 missense probably damaging 0.99
Posted On2011-07-12