Incidental Mutation 'IGL02965:Rnf125'
ID 365541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf125
Ensembl Gene ENSMUSG00000033107
Gene Name ring finger protein 125
Synonyms 4930553F04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02965
Quality Score
Status
Chromosome 18
Chromosomal Location 21077682-21116919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21116168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 117 (I117V)
Ref Sequence ENSEMBL: ENSMUSP00000058251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050004]
AlphaFold Q9D9R0
Predicted Effect probably benign
Transcript: ENSMUST00000050004
AA Change: I117V

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000058251
Gene: ENSMUSG00000033107
AA Change: I117V

DomainStartEndE-ValueType
ZnF_C2H2 47 68 7.18e1 SMART
ZnF_C2H2 76 104 5.68e1 SMART
low complexity region 109 122 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,071,439 (GRCm39) K1471R probably benign Het
Add1 A G 5: 34,777,467 (GRCm39) S77G probably damaging Het
Atm G T 9: 53,364,863 (GRCm39) N2642K probably damaging Het
Atp6v0a2 T A 5: 124,767,267 (GRCm39) M10K possibly damaging Het
Btd T A 14: 31,389,193 (GRCm39) S305T probably damaging Het
Cmya5 C T 13: 93,229,065 (GRCm39) V2008I probably benign Het
Cpd T G 11: 76,681,814 (GRCm39) probably benign Het
Dis3l A G 9: 64,217,766 (GRCm39) F772L probably damaging Het
Dlg5 A T 14: 24,222,091 (GRCm39) I517N probably damaging Het
Fig4 G A 10: 41,161,661 (GRCm39) T34M probably damaging Het
Flna C T X: 73,270,816 (GRCm39) V2235I probably damaging Het
Flot2 T C 11: 77,950,031 (GRCm39) I371T possibly damaging Het
Fsip2 G A 2: 82,813,398 (GRCm39) S3239N probably benign Het
Gbp3 A G 3: 142,273,343 (GRCm39) I297V probably benign Het
Gcnt3 T C 9: 69,942,235 (GRCm39) E111G probably benign Het
Gdi1 G T X: 73,351,331 (GRCm39) A148S probably benign Het
Heatr5b G A 17: 79,060,502 (GRCm39) H2058Y probably benign Het
Hsp90aa1 A G 12: 110,662,113 (GRCm39) M1T probably null Het
Il22b A G 10: 118,130,762 (GRCm39) S45P probably damaging Het
Inppl1 C A 7: 101,477,478 (GRCm39) V715F possibly damaging Het
Kansl1 T C 11: 104,225,991 (GRCm39) Y975C probably damaging Het
Kif18b A G 11: 102,807,338 (GRCm39) probably benign Het
Krt40 T A 11: 99,432,492 (GRCm39) R175W probably damaging Het
Map3k19 T C 1: 127,751,803 (GRCm39) D516G probably damaging Het
Mfsd3 A G 15: 76,587,352 (GRCm39) H345R probably benign Het
Mlkl A T 8: 112,058,469 (GRCm39) I162N probably benign Het
Mtnr1a A T 8: 45,522,419 (GRCm39) N58I probably damaging Het
Nsmf T C 2: 24,951,774 (GRCm39) V499A probably damaging Het
Nudt6 A G 3: 37,473,655 (GRCm39) L22P probably damaging Het
Nxf7 T G X: 134,490,159 (GRCm39) E35A probably damaging Het
Or11h23 A C 14: 50,948,653 (GRCm39) I289L probably damaging Het
Paf1 T C 7: 28,095,629 (GRCm39) probably null Het
Pcdhb11 G T 18: 37,557,021 (GRCm39) V784L probably benign Het
Pglyrp2 T C 17: 32,637,560 (GRCm39) D156G probably benign Het
Pnpt1 A G 11: 29,106,939 (GRCm39) D670G probably damaging Het
Polr1b T A 2: 128,967,443 (GRCm39) H945Q probably benign Het
Ptk6 C T 2: 180,840,861 (GRCm39) probably benign Het
Rftn1 C T 17: 50,362,280 (GRCm39) E273K probably benign Het
Robo4 A G 9: 37,321,765 (GRCm39) K742R possibly damaging Het
Sez6l T C 5: 112,623,440 (GRCm39) E37G probably damaging Het
Skint4 A T 4: 111,993,218 (GRCm39) I306L probably benign Het
Sntb1 A T 15: 55,506,081 (GRCm39) Y497* probably null Het
Snx27 C A 3: 94,489,733 (GRCm39) V42L probably damaging Het
Sorbs1 T A 19: 40,365,187 (GRCm39) T199S probably benign Het
Sorcs2 A G 5: 36,235,301 (GRCm39) Y72H probably benign Het
Spef2 G T 15: 9,725,192 (GRCm39) probably benign Het
Sucla2 G T 14: 73,816,871 (GRCm39) V204L probably benign Het
Tescl C A 7: 24,033,098 (GRCm39) V76F probably damaging Het
Tnxb T A 17: 34,928,628 (GRCm39) Y2681N possibly damaging Het
Usp42 T C 5: 143,713,769 (GRCm39) T2A probably damaging Het
Vdac3-ps1 T A 13: 18,205,431 (GRCm39) noncoding transcript Het
Wapl T A 14: 34,461,181 (GRCm39) probably benign Het
Other mutations in Rnf125
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0631:Rnf125 UTSW 18 21,112,140 (GRCm39) missense possibly damaging 0.85
R0980:Rnf125 UTSW 18 21,112,117 (GRCm39) nonsense probably null
R1344:Rnf125 UTSW 18 21,114,288 (GRCm39) missense possibly damaging 0.86
R1731:Rnf125 UTSW 18 21,110,873 (GRCm39) missense probably benign
R3085:Rnf125 UTSW 18 21,110,787 (GRCm39) missense probably benign 0.22
R4320:Rnf125 UTSW 18 21,110,817 (GRCm39) missense probably benign 0.04
R4322:Rnf125 UTSW 18 21,110,817 (GRCm39) missense probably benign 0.04
R4324:Rnf125 UTSW 18 21,110,817 (GRCm39) missense probably benign 0.04
R7366:Rnf125 UTSW 18 21,107,490 (GRCm39) missense not run
R9189:Rnf125 UTSW 18 21,116,240 (GRCm39) makesense probably null
Posted On 2015-12-18