Incidental Mutation 'IGL01665:5430419D17Rik'
ID103283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5430419D17Rik
Ensembl Gene ENSMUSG00000006204
Gene NameRIKEN cDNA 5430419D17 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.038) question?
Stock #IGL01665
Quality Score
Status
Chromosome7
Chromosomal Location131174402-131306451 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 131246657 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 847 (G847*)
Ref Sequence ENSEMBL: ENSMUSP00000150784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050586] [ENSMUST00000124096] [ENSMUST00000208921]
Predicted Effect probably null
Transcript: ENSMUST00000050586
AA Change: G731*
SMART Domains Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: G731*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 85 105 N/A INTRINSIC
SR 144 244 3.3e-57 SMART
CUB 272 378 1.2e-16 SMART
SR 428 528 3.9e-56 SMART
low complexity region 533 548 N/A INTRINSIC
CUB 556 667 5.1e-38 SMART
SR 680 780 1.5e-57 SMART
Pfam:CUB 795 840 3.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000208921
AA Change: G847*
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T A 9: 54,622,720 I231L probably benign Het
Adcyap1 T A 17: 93,200,078 V22D probably damaging Het
Adgra3 T C 5: 50,006,930 T236A possibly damaging Het
Adipor2 A T 6: 119,361,926 L122H probably benign Het
Atp1a4 T C 1: 172,246,724 I321V probably benign Het
Bhmt2 A T 13: 93,663,153 Y258* probably null Het
C230029F24Rik T A 1: 49,338,094 noncoding transcript Het
Ccpg1 T A 9: 73,005,877 F232I probably damaging Het
Cd83 A T 13: 43,801,677 T195S probably benign Het
Cfap70 G A 14: 20,403,118 T897M probably damaging Het
Cyp3a11 T A 5: 145,868,665 M181L probably benign Het
Frem2 C T 3: 53,549,662 V2090I probably benign Het
Gm45234 A G 6: 124,746,608 probably benign Het
Gm7964 T A 7: 83,757,133 noncoding transcript Het
Igsf9 T A 1: 172,492,171 C39* probably null Het
Il1rap A T 16: 26,722,713 D568V probably damaging Het
Ints7 C T 1: 191,613,219 probably benign Het
Lsamp C T 16: 42,144,012 R250* probably null Het
Oit3 T A 10: 59,438,909 D23V probably damaging Het
Pcdh17 T A 14: 84,447,002 L303Q probably damaging Het
Pcdhb1 T A 18: 37,267,397 N800K probably benign Het
Plce1 A G 19: 38,524,887 D210G probably benign Het
Plekhb2 T A 1: 34,869,330 Y152N probably damaging Het
Rbp3 T C 14: 33,956,131 S679P probably benign Het
Rps6kc1 T C 1: 190,911,657 T2A possibly damaging Het
Tmem167 T A 13: 90,098,385 S9R probably damaging Het
Xpnpep1 A T 19: 52,997,032 S522T probably benign Het
Other mutations in 5430419D17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:5430419D17Rik APN 7 131238094 unclassified probably null
IGL00848:5430419D17Rik APN 7 131246724 missense probably damaging 1.00
IGL00966:5430419D17Rik APN 7 131243107 nonsense probably null
IGL01286:5430419D17Rik APN 7 131246703 missense probably damaging 1.00
IGL01303:5430419D17Rik APN 7 131194331 missense possibly damaging 0.53
IGL01585:5430419D17Rik APN 7 131244758 missense probably damaging 0.97
IGL01953:5430419D17Rik APN 7 131224980 missense probably benign 0.04
IGL02427:5430419D17Rik APN 7 131244788 missense probably damaging 0.99
IGL02508:5430419D17Rik APN 7 131222830 missense probably damaging 1.00
IGL02678:5430419D17Rik APN 7 131228917 missense probably damaging 1.00
IGL03092:5430419D17Rik APN 7 131201798 critical splice donor site probably null
IGL03122:5430419D17Rik APN 7 131196514 missense possibly damaging 0.68
IGL03343:5430419D17Rik APN 7 131246691 missense probably damaging 1.00
R0011:5430419D17Rik UTSW 7 131229993 missense probably damaging 0.99
R0011:5430419D17Rik UTSW 7 131229993 missense probably damaging 0.99
R0234:5430419D17Rik UTSW 7 131194303 splice site probably null
R0234:5430419D17Rik UTSW 7 131194303 splice site probably null
R0268:5430419D17Rik UTSW 7 131238176 missense probably damaging 1.00
R0383:5430419D17Rik UTSW 7 131239539 missense probably benign 0.05
R0973:5430419D17Rik UTSW 7 131238182 missense probably damaging 1.00
R0973:5430419D17Rik UTSW 7 131238182 missense probably damaging 1.00
R0974:5430419D17Rik UTSW 7 131238182 missense probably damaging 1.00
R1572:5430419D17Rik UTSW 7 131244831 nonsense probably null
R1911:5430419D17Rik UTSW 7 131238089 missense probably damaging 1.00
R2032:5430419D17Rik UTSW 7 131243052 missense probably damaging 1.00
R2097:5430419D17Rik UTSW 7 131181964 nonsense probably null
R2221:5430419D17Rik UTSW 7 131247457 critical splice acceptor site probably null
R2223:5430419D17Rik UTSW 7 131247457 critical splice acceptor site probably null
R2254:5430419D17Rik UTSW 7 131222905 missense probably damaging 1.00
R2913:5430419D17Rik UTSW 7 131182024 missense possibly damaging 0.90
R2991:5430419D17Rik UTSW 7 131246700 missense probably damaging 1.00
R3439:5430419D17Rik UTSW 7 131188779 critical splice donor site probably null
R4418:5430419D17Rik UTSW 7 131247465 missense possibly damaging 0.86
R4916:5430419D17Rik UTSW 7 131174477 synonymous probably null
R5488:5430419D17Rik UTSW 7 131246595 missense probably damaging 1.00
R5594:5430419D17Rik UTSW 7 131239523 missense probably benign 0.12
R5897:5430419D17Rik UTSW 7 131196551 splice site probably null
R5898:5430419D17Rik UTSW 7 131241967 splice site probably null
R5940:5430419D17Rik UTSW 7 131238263 missense probably damaging 1.00
R6170:5430419D17Rik UTSW 7 131174487 splice site probably null
R6187:5430419D17Rik UTSW 7 131270599 intron probably benign
R6321:5430419D17Rik UTSW 7 131257006 critical splice donor site probably null
R6409:5430419D17Rik UTSW 7 131262071 intron probably benign
R6432:5430419D17Rik UTSW 7 131244872 critical splice donor site probably null
R6481:5430419D17Rik UTSW 7 131256801 missense probably benign 0.05
R6750:5430419D17Rik UTSW 7 131288245 intron probably benign
R6783:5430419D17Rik UTSW 7 131226764 missense probably damaging 0.99
R6836:5430419D17Rik UTSW 7 131196504 missense possibly damaging 0.84
R6925:5430419D17Rik UTSW 7 131222707 missense possibly damaging 0.92
Z1088:5430419D17Rik UTSW 7 131246633 missense probably damaging 1.00
Posted On2014-01-21