Incidental Mutation 'IGL01018:5530400C23Rik'
ID 278240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5530400C23Rik
Ensembl Gene ENSMUSG00000055594
Gene Name RIKEN cDNA 5530400C23 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # IGL01018
Quality Score
Status
Chromosome 6
Chromosomal Location 133269179-133272753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133271461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 168 (R168S)
Ref Sequence ENSEMBL: ENSMUSP00000035635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048459]
AlphaFold Q9D3I0
Predicted Effect probably benign
Transcript: ENSMUST00000048459
AA Change: R168S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035635
Gene: ENSMUSG00000055594
AA Change: R168S

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
Armt1 T A 10: 4,400,732 (GRCm39) S160T probably benign Het
Armt1 C T 10: 4,404,237 (GRCm39) probably benign Het
Ccdc170 T C 10: 4,462,788 (GRCm39) W35R probably benign Het
Ccdc170 T C 10: 4,464,114 (GRCm39) V31A probably benign Het
Ccdc170 G T 10: 4,464,155 (GRCm39) A99S probably benign Het
Glp2r C A 11: 67,600,470 (GRCm39) V460F probably benign Het
Gm21411 C T 4: 146,977,067 (GRCm39) S69N possibly damaging Het
Gm21411 T C 4: 146,977,034 (GRCm39) Q80R probably benign Het
Gm21738 G A 14: 19,418,856 (GRCm38) P24L probably benign Het
H2-M10.6 C T 17: 37,123,112 (GRCm39) A15V probably benign Het
H60c T C 10: 3,209,766 (GRCm39) M174V probably benign Het
H60c A C 10: 3,210,343 (GRCm39) F69V probably benign Het
Ipcef1 C T 10: 6,869,968 (GRCm39) R144Q probably damaging Het
Ipcef1 G A 10: 6,840,551 (GRCm39) A382V probably benign Het
Mapk8ip3 T G 17: 25,118,693 (GRCm39) probably benign Het
Mthfd1l T C 10: 3,982,345 (GRCm39) probably benign Het
Mthfd1l T C 10: 3,928,708 (GRCm39) V100A probably benign Het
Mthfd1l T C 10: 3,957,800 (GRCm39) V279A probably benign Het
Mtrf1l A G 10: 5,764,180 (GRCm39) probably benign Het
Myo18b T C 5: 112,957,613 (GRCm39) E1450G probably damaging Het
Obscn C T 11: 59,018,895 (GRCm39) V973M probably damaging Het
Oprm1 T C 10: 6,987,170 (GRCm39) probably benign Het
Or6p1 G A 1: 174,258,908 (GRCm39) V305I probably benign Het
Pou5f2 A G 13: 78,174,057 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,252,113 (GRCm39) H891Y probably benign Het
Ralgapa2 T G 2: 146,252,112 (GRCm39) H806P probably benign Het
Rmnd1 A G 10: 4,377,392 (GRCm39) W96R probably benign Het
Rmnd1 A T 10: 4,377,290 (GRCm39) S130T probably benign Het
Spata31e2 T C 1: 26,721,991 (GRCm39) E1063G probably damaging Het
Speer4a3 G T 5: 26,155,721 (GRCm39) H208N probably benign Het
Trappc12 A C 12: 28,741,853 (GRCm39) probably benign Het
Ulbp3 G A 10: 3,075,031 (GRCm39) noncoding transcript Het
Ulbp3 C T 10: 3,075,193 (GRCm39) noncoding transcript Het
Ulbp3 A G 10: 3,070,231 (GRCm39) noncoding transcript Het
Ulbp3 A G 10: 3,070,209 (GRCm39) noncoding transcript Het
Vip A G 10: 5,592,480 (GRCm39) D40G probably benign Het
Vmn2r125 C A 4: 156,703,194 (GRCm39) Q191K probably benign Het
Vmn2r125 A C 4: 156,703,195 (GRCm39) Q191P probably benign Het
Vmn2r125 A T 4: 156,703,332 (GRCm39) T237S probably benign Het
Vmn2r125 A G 4: 156,703,140 (GRCm39) N173D probably damaging Het
Vmn2r125 T C 4: 156,702,907 (GRCm39) probably benign Het
Vmn2r125 T A 4: 156,703,521 (GRCm39) L300M probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Vmn2r129 C A 4: 156,690,730 (GRCm39) noncoding transcript Het
Vmn2r129 A T 4: 156,690,441 (GRCm39) noncoding transcript Het
Vmn2r129 G A 4: 156,686,900 (GRCm39) noncoding transcript Het
Vmn2r129 T C 4: 156,687,885 (GRCm39) noncoding transcript Het
Vmn2r129 T C 4: 156,686,558 (GRCm39) noncoding transcript Het
Vmn2r40 G A 7: 8,911,175 (GRCm39) S706F probably damaging Het
Zfp14 T A 7: 29,737,526 (GRCm39) R486S probably damaging Het
Other mutations in 5530400C23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:5530400C23Rik APN 6 133,271,460 (GRCm39) missense probably benign
IGL02383:5530400C23Rik APN 6 133,269,205 (GRCm39) utr 5 prime probably benign
R0066:5530400C23Rik UTSW 6 133,269,287 (GRCm39) splice site probably benign
R0105:5530400C23Rik UTSW 6 133,271,277 (GRCm39) missense probably benign 0.32
R0468:5530400C23Rik UTSW 6 133,271,421 (GRCm39) missense probably benign 0.25
R0600:5530400C23Rik UTSW 6 133,270,174 (GRCm39) splice site probably benign
R1523:5530400C23Rik UTSW 6 133,271,256 (GRCm39) missense possibly damaging 0.85
R3418:5530400C23Rik UTSW 6 133,271,082 (GRCm39) missense probably benign 0.32
R3419:5530400C23Rik UTSW 6 133,271,082 (GRCm39) missense probably benign 0.32
R5362:5530400C23Rik UTSW 6 133,271,445 (GRCm39) missense probably benign
R6160:5530400C23Rik UTSW 6 133,271,289 (GRCm39) missense possibly damaging 0.85
R7733:5530400C23Rik UTSW 6 133,271,240 (GRCm39) missense probably benign 0.32
R8746:5530400C23Rik UTSW 6 133,271,256 (GRCm39) missense possibly damaging 0.71
R9544:5530400C23Rik UTSW 6 133,271,202 (GRCm39) missense possibly damaging 0.85
Posted On 2015-04-16