Incidental Mutation 'IGL03013:Ro60'
ID 407853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ro60
Ensembl Gene ENSMUSG00000018199
Gene Name Ro60, Y RNA binding protein
Synonyms A530054J02Rik, Ssa, Trove2, SS-A/Ro, 1810007I17Rik, Ssa2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL03013
Quality Score
Status
Chromosome 1
Chromosomal Location 143626528-143652794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143646446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 100 (S100P)
Ref Sequence ENSEMBL: ENSMUSP00000125623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159879]
AlphaFold O08848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000018343
Predicted Effect probably damaging
Transcript: ENSMUST00000159879
AA Change: S100P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125623
Gene: ENSMUSG00000018199
AA Change: S100P

DomainStartEndE-ValueType
Pfam:TROVE 16 369 9.7e-99 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice develop symptoms similar to those observed in patients with lupus, including increased photosensitivity and membranoproliferative glomerulonephritis. The production of autoantibodies is detected in both homozygous and heterozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
B3galt6 G A 4: 156,076,215 (GRCm39) Q287* probably null Het
C2 A G 17: 35,091,435 (GRCm39) V353A probably damaging Het
Cntnap2 A T 6: 47,072,483 (GRCm39) Y1017F possibly damaging Het
Copz1 T A 15: 103,204,995 (GRCm39) M118K probably benign Het
Dnm1 T C 2: 32,226,296 (GRCm39) N298D probably benign Het
Exog T C 9: 119,291,679 (GRCm39) S295P possibly damaging Het
Ext2 A T 2: 93,537,571 (GRCm39) probably benign Het
Garin5b A G 7: 4,761,632 (GRCm39) L360S probably benign Het
Gpatch8 T C 11: 102,399,023 (GRCm39) I70V unknown Het
Krt5 T A 15: 101,620,103 (GRCm39) I205L probably benign Het
Leng9 A G 7: 4,151,737 (GRCm39) V313A probably damaging Het
Macrod2 A G 2: 141,357,147 (GRCm39) I148V probably benign Het
Mapk14 G T 17: 28,947,323 (GRCm39) probably benign Het
Mfsd4b3-ps A T 10: 39,823,891 (GRCm39) M123K probably benign Het
Mmp8 A G 9: 7,561,690 (GRCm39) D205G probably benign Het
Muc5b A T 7: 141,417,665 (GRCm39) H3537L possibly damaging Het
Nde1 C T 16: 14,009,611 (GRCm39) P324L probably benign Het
Nlrp9b A T 7: 19,782,750 (GRCm39) H888L probably damaging Het
Npy2r A G 3: 82,447,819 (GRCm39) F319L probably damaging Het
Nup210 A G 6: 91,030,361 (GRCm39) V156A probably benign Het
Nxph2 T C 2: 23,289,945 (GRCm39) I99T probably benign Het
Parpbp A G 10: 87,975,840 (GRCm39) I91T probably damaging Het
Pld2 A G 11: 70,432,003 (GRCm39) Y75C probably damaging Het
Pramel12 A G 4: 143,144,037 (GRCm39) T128A possibly damaging Het
Pramel33 A T 5: 93,630,391 (GRCm39) S394T probably damaging Het
Prkcb C A 7: 122,226,905 (GRCm39) D630E probably damaging Het
Prl3c1 T C 13: 27,383,349 (GRCm39) V5A probably benign Het
Sdcbp2 A G 2: 151,429,255 (GRCm39) T192A probably benign Het
Sema6a C T 18: 47,381,461 (GRCm39) A1046T probably benign Het
Serpinb3a A G 1: 106,973,813 (GRCm39) F366S probably damaging Het
Serpinb9d T A 13: 33,380,521 (GRCm39) W136R probably damaging Het
Smc2 G T 4: 52,442,280 (GRCm39) V66F probably damaging Het
Speg A G 1: 75,407,923 (GRCm39) D3206G probably damaging Het
Syne2 C T 12: 75,976,111 (GRCm39) A1187V probably benign Het
Unc5cl G A 17: 48,772,049 (GRCm39) M442I possibly damaging Het
Other mutations in Ro60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Ro60 APN 1 143,637,120 (GRCm39) missense probably benign 0.29
IGL01578:Ro60 APN 1 143,637,038 (GRCm39) missense probably damaging 0.99
IGL02006:Ro60 APN 1 143,636,084 (GRCm39) splice site probably benign
IGL02155:Ro60 APN 1 143,637,007 (GRCm39) critical splice donor site probably null
IGL02219:Ro60 APN 1 143,637,013 (GRCm39) missense possibly damaging 0.94
IGL02637:Ro60 APN 1 143,646,526 (GRCm39) missense probably damaging 1.00
IGL03075:Ro60 APN 1 143,646,509 (GRCm39) missense probably benign
R0415:Ro60 UTSW 1 143,635,813 (GRCm39) missense probably benign 0.00
R0443:Ro60 UTSW 1 143,641,661 (GRCm39) splice site probably benign
R0479:Ro60 UTSW 1 143,633,489 (GRCm39) missense possibly damaging 0.72
R1696:Ro60 UTSW 1 143,633,575 (GRCm39) missense probably damaging 0.99
R1728:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R1728:Ro60 UTSW 1 143,635,752 (GRCm39) missense probably benign
R1729:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R1729:Ro60 UTSW 1 143,635,752 (GRCm39) missense probably benign
R1730:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R1730:Ro60 UTSW 1 143,635,752 (GRCm39) missense probably benign
R1739:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R1739:Ro60 UTSW 1 143,635,752 (GRCm39) missense probably benign
R1762:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R1762:Ro60 UTSW 1 143,635,752 (GRCm39) missense probably benign
R1783:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R1783:Ro60 UTSW 1 143,635,752 (GRCm39) missense probably benign
R1784:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R1784:Ro60 UTSW 1 143,635,752 (GRCm39) missense probably benign
R1785:Ro60 UTSW 1 143,635,752 (GRCm39) missense probably benign
R1785:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R1857:Ro60 UTSW 1 143,646,488 (GRCm39) missense probably benign 0.00
R2049:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R2130:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R2131:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R2133:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R2141:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R2142:Ro60 UTSW 1 143,635,772 (GRCm39) missense probably benign
R2372:Ro60 UTSW 1 143,646,620 (GRCm39) nonsense probably null
R2929:Ro60 UTSW 1 143,633,616 (GRCm39) missense possibly damaging 0.92
R4191:Ro60 UTSW 1 143,646,524 (GRCm39) missense probably benign 0.00
R5520:Ro60 UTSW 1 143,646,509 (GRCm39) missense probably benign
R5821:Ro60 UTSW 1 143,642,503 (GRCm39) missense probably benign 0.09
R7432:Ro60 UTSW 1 143,641,548 (GRCm39) missense probably benign 0.43
R7658:Ro60 UTSW 1 143,646,611 (GRCm39) missense probably damaging 1.00
R8833:Ro60 UTSW 1 143,641,517 (GRCm39) nonsense probably null
R8924:Ro60 UTSW 1 143,641,170 (GRCm39) critical splice donor site probably null
R9079:Ro60 UTSW 1 143,641,519 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02