Incidental Mutation 'IGL01968:4933425L06Rik'
ID181596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933425L06Rik
Ensembl Gene ENSMUSG00000021718
Gene NameRIKEN cDNA 4933425L06 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01968
Quality Score
Status
Chromosome13
Chromosomal Location105082122-105121782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 105119830 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 469 (M469K)
Ref Sequence ENSEMBL: ENSMUSP00000022232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022232]
Predicted Effect probably damaging
Transcript: ENSMUST00000022232
AA Change: M469K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022232
Gene: ENSMUSG00000021718
AA Change: M469K

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Metallophos 40 245 4.8e-12 PFAM
Pfam:5_nucleotid_C 314 472 4.1e-42 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001L19Rik T G 13: 68,611,244 H112Q probably damaging Het
Abcb4 A G 5: 8,927,913 D497G probably benign Het
Adgra2 A T 8: 27,121,235 R856* probably null Het
Chodl T A 16: 78,941,669 S138T probably damaging Het
Dnah8 C T 17: 30,656,598 R465* probably null Het
Fgfr2 A G 7: 130,185,248 W358R probably damaging Het
Iqgap2 G T 13: 95,635,582 A1363E possibly damaging Het
Malt1 T A 18: 65,449,016 I317K probably benign Het
Mrps5 A G 2: 127,591,907 N72S probably null Het
Mst1r T A 9: 107,916,806 probably null Het
Nars A T 18: 64,507,858 C176S probably damaging Het
Olfr723 A T 14: 49,929,098 W149R probably damaging Het
Plxna4 T G 6: 32,215,204 D817A possibly damaging Het
Plxnb1 C T 9: 109,100,984 P303S probably benign Het
Prkd2 G T 7: 16,869,576 probably null Het
Sulf1 A T 1: 12,818,451 H320L probably damaging Het
Use1 G A 8: 71,367,067 probably benign Het
Vmn2r6 T C 3: 64,556,345 D356G possibly damaging Het
Other mutations in 4933425L06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:4933425L06Rik APN 13 105118684 missense probably damaging 1.00
IGL01099:4933425L06Rik APN 13 105109360 missense probably benign 0.00
IGL01540:4933425L06Rik APN 13 105082253 missense possibly damaging 0.47
IGL02364:4933425L06Rik APN 13 105082300 missense probably damaging 1.00
IGL02447:4933425L06Rik APN 13 105100459 missense probably damaging 0.99
R0534:4933425L06Rik UTSW 13 105082254 nonsense probably null
R1486:4933425L06Rik UTSW 13 105109783 missense probably benign 0.26
R1543:4933425L06Rik UTSW 13 105112369 nonsense probably null
R1544:4933425L06Rik UTSW 13 105109621 missense probably benign 0.00
R1631:4933425L06Rik UTSW 13 105082241 missense probably benign
R1807:4933425L06Rik UTSW 13 105082236 missense probably benign
R1835:4933425L06Rik UTSW 13 105082194 missense unknown
R2427:4933425L06Rik UTSW 13 105109761 missense probably benign 0.03
R2504:4933425L06Rik UTSW 13 105109742 missense probably benign 0.09
R4353:4933425L06Rik UTSW 13 105118745 missense probably benign 0.14
R4949:4933425L06Rik UTSW 13 105109706 missense probably damaging 1.00
R6242:4933425L06Rik UTSW 13 105109540 missense probably benign 0.00
R6376:4933425L06Rik UTSW 13 105119965 missense possibly damaging 0.95
R6615:4933425L06Rik UTSW 13 105112485 missense probably damaging 1.00
R7610:4933425L06Rik UTSW 13 105111187 missense probably damaging 1.00
R7773:4933425L06Rik UTSW 13 105082285 missense probably damaging 1.00
R7985:4933425L06Rik UTSW 13 105119974 missense probably benign 0.22
R8171:4933425L06Rik UTSW 13 105109783 missense probably benign 0.26
R8429:4933425L06Rik UTSW 13 105118788 missense probably damaging 1.00
X0024:4933425L06Rik UTSW 13 105112511 missense probably damaging 0.99
X0057:4933425L06Rik UTSW 13 105082251 missense probably benign
Z1176:4933425L06Rik UTSW 13 105111144 missense probably damaging 1.00
Posted On2014-05-07