Incidental Mutation 'IGL01018:5530400C23Rik'
ID278239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5530400C23Rik
Ensembl Gene ENSMUSG00000055594
Gene NameRIKEN cDNA 5530400C23 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL01018
Quality Score
Status
Chromosome6
Chromosomal Location133292216-133295792 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 133294497 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Isoleucine at position 168 (R168I)
Ref Sequence ENSEMBL: ENSMUSP00000035635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048459]
Predicted Effect probably benign
Transcript: ENSMUST00000048459
AA Change: R168I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035635
Gene: ENSMUSG00000055594
AA Change: R168I

DomainStartEndE-ValueType
Pfam:Pro-rich 1 163 5.2e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,682,910 E1063G probably damaging Het
9230019H11Rik C T 10: 3,125,193 noncoding transcript Het
9230019H11Rik A G 10: 3,120,231 noncoding transcript Het
9230019H11Rik A G 10: 3,120,209 noncoding transcript Het
9230019H11Rik G A 10: 3,125,031 noncoding transcript Het
Armt1 C T 10: 4,454,237 probably benign Het
Armt1 T A 10: 4,450,732 S160T probably benign Het
Ccdc170 T C 10: 4,512,788 W35R probably benign Het
Ccdc170 G T 10: 4,514,155 A99S probably benign Het
Ccdc170 T C 10: 4,514,114 V31A probably benign Het
Glp2r C A 11: 67,709,644 V460F probably benign Het
Gm21411 T C 4: 146,892,577 Q80R probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 G T 5: 25,950,723 H208N probably benign Het
Gm21738 G A 14: 19,418,856 P24L probably benign Het
H2-M10.6 C T 17: 36,812,220 A15V probably benign Het
H60c A C 10: 3,260,343 F69V probably benign Het
H60c T C 10: 3,259,766 M174V probably benign Het
Ipcef1 C T 10: 6,919,968 R144Q probably damaging Het
Ipcef1 G A 10: 6,890,551 A382V probably benign Het
Mapk8ip3 T G 17: 24,899,719 probably benign Het
Mthfd1l T C 10: 4,032,345 probably benign Het
Mthfd1l T C 10: 3,978,708 V100A probably benign Het
Mthfd1l T C 10: 4,007,800 V279A probably benign Het
Mtrf1l A G 10: 5,814,180 probably benign Het
Myo18b T C 5: 112,809,747 E1450G probably damaging Het
Obscn C T 11: 59,128,069 V973M probably damaging Het
Olfr414 G A 1: 174,431,342 V305I probably benign Het
Oprm1 T C 10: 7,037,170 probably benign Het
Pou5f2 A G 13: 78,025,938 probably benign Het
Ralgapa2 G A 2: 146,410,193 H891Y probably benign Het
Ralgapa2 T G 2: 146,410,192 H806P probably benign Het
Rmnd1 A T 10: 4,427,290 S130T probably benign Het
Rmnd1 A G 10: 4,427,392 W96R probably benign Het
Trappc12 A C 12: 28,691,854 probably benign Het
Vip A G 10: 5,642,480 D40G probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r125 T C 4: 156,350,612 probably benign Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 A G 4: 156,350,845 N173D probably damaging Het
Vmn2r40 G A 7: 8,908,176 S706F probably damaging Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,335,590 noncoding transcript Het
Vmn2r-ps159 G A 4: 156,334,605 noncoding transcript Het
Zfp14 T A 7: 30,038,101 R486S probably damaging Het
Other mutations in 5530400C23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:5530400C23Rik APN 6 133294498 missense probably benign
IGL02383:5530400C23Rik APN 6 133292242 utr 5 prime probably benign
R0066:5530400C23Rik UTSW 6 133292324 splice site probably benign
R0105:5530400C23Rik UTSW 6 133294314 missense probably benign 0.32
R0468:5530400C23Rik UTSW 6 133294458 missense probably benign 0.25
R0600:5530400C23Rik UTSW 6 133293211 splice site probably benign
R1523:5530400C23Rik UTSW 6 133294293 missense possibly damaging 0.85
R3418:5530400C23Rik UTSW 6 133294119 missense probably benign 0.32
R3419:5530400C23Rik UTSW 6 133294119 missense probably benign 0.32
R5362:5530400C23Rik UTSW 6 133294482 missense probably benign
R6160:5530400C23Rik UTSW 6 133294326 missense possibly damaging 0.85
R7733:5530400C23Rik UTSW 6 133294277 missense probably benign 0.32
Posted On2015-04-16