Incidental Mutation 'IGL02963:Rnf220'
ID 365454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf220
Ensembl Gene ENSMUSG00000028677
Gene Name ring finger protein 220
Synonyms 5730503K05Rik, 4931406I20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # IGL02963
Quality Score
Status
Chromosome 4
Chromosomal Location 117128660-117354249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117347389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 8 (F8L)
Ref Sequence ENSEMBL: ENSMUSP00000030439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030439]
AlphaFold Q6PDX6
Predicted Effect probably damaging
Transcript: ENSMUST00000030439
AA Change: F8L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677
AA Change: F8L

DomainStartEndE-ValueType
Pfam:RNF220 217 339 3.5e-38 PFAM
Pfam:RNF220 325 444 4.9e-51 PFAM
RING 514 552 1.62e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138435
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,603,503 (GRCm39) L565Q probably damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Arhgap44 A T 11: 64,922,489 (GRCm39) I348N probably damaging Het
Bahcc1 T C 11: 120,165,758 (GRCm39) S1005P possibly damaging Het
Ccn1 A G 3: 145,353,630 (GRCm39) Y311H probably damaging Het
Cdh20 T A 1: 104,861,823 (GRCm39) M1K probably null Het
Cfhr4 G A 1: 139,659,334 (GRCm39) Q732* probably null Het
Cpsf3 T C 12: 21,352,423 (GRCm39) S387P probably damaging Het
Cyp2j6 T C 4: 96,406,421 (GRCm39) E450G probably damaging Het
Dusp13b T C 14: 21,783,875 (GRCm39) T147A possibly damaging Het
Eif3c T C 7: 126,155,992 (GRCm39) T493A probably benign Het
Ell2 T C 13: 75,917,762 (GRCm39) V564A possibly damaging Het
Gtf2ird1 T G 5: 134,418,541 (GRCm39) E478D probably benign Het
Gys2 A T 6: 142,395,154 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,526 (GRCm39) T104A probably damaging Het
Herc1 T C 9: 66,296,105 (GRCm39) S567P probably damaging Het
Kcnq3 A T 15: 66,157,675 (GRCm39) probably benign Het
Kdm7a T C 6: 39,120,164 (GRCm39) H935R probably damaging Het
Lcat A T 8: 106,666,588 (GRCm39) F311L probably damaging Het
Manf A G 9: 106,768,338 (GRCm39) S49P possibly damaging Het
Med25 T C 7: 44,541,680 (GRCm39) K37E probably damaging Het
Ms4a4b T A 19: 11,432,062 (GRCm39) I61K probably damaging Het
Muc5b T C 7: 141,418,001 (GRCm39) I3649T probably damaging Het
Myo18a T G 11: 77,732,844 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,898,466 (GRCm39) C429R probably damaging Het
Or14j2 A G 17: 37,885,745 (GRCm39) S190P probably benign Het
Pigk G T 3: 152,472,098 (GRCm39) E337* probably null Het
Pigz A T 16: 31,763,353 (GRCm39) Y137F probably damaging Het
Ppp1r12b A G 1: 134,814,286 (GRCm39) L339P probably damaging Het
Rasa2 C A 9: 96,452,838 (GRCm39) L349F probably damaging Het
Reep4 A G 14: 70,785,410 (GRCm39) S186G possibly damaging Het
Rfx7 A G 9: 72,524,898 (GRCm39) K696R probably benign Het
Rprm T C 2: 53,975,226 (GRCm39) T31A probably benign Het
Sez6 T A 11: 77,853,775 (GRCm39) L148Q possibly damaging Het
Sh2d6 C T 6: 72,494,584 (GRCm39) V96I probably benign Het
Slc16a9 G T 10: 70,102,966 (GRCm39) V81F probably damaging Het
Slc9a9 T A 9: 94,902,767 (GRCm39) probably null Het
Sppl3 T A 5: 115,199,662 (GRCm39) L22Q probably damaging Het
Ssc5d T C 7: 4,947,326 (GRCm39) S1227P probably benign Het
Tbc1d1 T A 5: 64,421,709 (GRCm39) V238E probably damaging Het
Tmco6 G A 18: 36,871,798 (GRCm39) probably null Het
Tyr A G 7: 87,133,205 (GRCm39) V287A probably benign Het
Uvrag A T 7: 98,555,697 (GRCm39) probably null Het
Vmn1r167 A G 7: 23,204,975 (GRCm39) S14P possibly damaging Het
Vmn1r171 A G 7: 23,332,113 (GRCm39) T113A possibly damaging Het
Wnk4 A G 11: 101,167,039 (GRCm39) probably benign Het
Zan T C 5: 137,454,512 (GRCm39) T1431A unknown Het
Other mutations in Rnf220
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Rnf220 APN 4 117,164,872 (GRCm39) missense probably benign 0.02
IGL01345:Rnf220 APN 4 117,130,467 (GRCm39) nonsense probably null
IGL02097:Rnf220 APN 4 117,130,524 (GRCm39) missense probably benign 0.00
IGL02245:Rnf220 APN 4 117,156,734 (GRCm39) splice site probably benign
IGL02366:Rnf220 APN 4 117,346,980 (GRCm39) missense probably benign
IGL02725:Rnf220 APN 4 117,129,576 (GRCm39) splice site probably benign
IGL02801:Rnf220 APN 4 117,130,448 (GRCm39) missense probably damaging 1.00
BB007:Rnf220 UTSW 4 117,164,787 (GRCm39) missense probably damaging 0.99
BB017:Rnf220 UTSW 4 117,164,787 (GRCm39) missense probably damaging 0.99
PIT4131001:Rnf220 UTSW 4 117,134,566 (GRCm39) critical splice donor site probably null
R0041:Rnf220 UTSW 4 117,130,481 (GRCm39) missense probably damaging 1.00
R0784:Rnf220 UTSW 4 117,135,195 (GRCm39) splice site probably benign
R1107:Rnf220 UTSW 4 117,142,587 (GRCm39) missense probably damaging 1.00
R1122:Rnf220 UTSW 4 117,135,277 (GRCm39) missense probably benign 0.01
R1231:Rnf220 UTSW 4 117,347,081 (GRCm39) missense probably damaging 0.98
R1708:Rnf220 UTSW 4 117,347,083 (GRCm39) missense probably benign 0.00
R1794:Rnf220 UTSW 4 117,164,765 (GRCm39) missense probably benign
R4488:Rnf220 UTSW 4 117,347,011 (GRCm39) missense probably damaging 1.00
R4710:Rnf220 UTSW 4 117,146,411 (GRCm39) unclassified probably benign
R4790:Rnf220 UTSW 4 117,146,252 (GRCm39) missense probably benign 0.45
R4923:Rnf220 UTSW 4 117,346,797 (GRCm39) missense possibly damaging 0.71
R5173:Rnf220 UTSW 4 117,146,471 (GRCm39) start gained probably benign
R5334:Rnf220 UTSW 4 117,129,548 (GRCm39) missense probably damaging 1.00
R5505:Rnf220 UTSW 4 117,153,288 (GRCm39) intron probably benign
R5849:Rnf220 UTSW 4 117,134,809 (GRCm39) missense possibly damaging 0.92
R7075:Rnf220 UTSW 4 117,143,079 (GRCm39) missense probably benign 0.28
R7349:Rnf220 UTSW 4 117,135,015 (GRCm39) missense probably damaging 0.99
R7478:Rnf220 UTSW 4 117,153,333 (GRCm39) missense possibly damaging 0.94
R7541:Rnf220 UTSW 4 117,347,127 (GRCm39) missense probably damaging 1.00
R7930:Rnf220 UTSW 4 117,164,787 (GRCm39) missense probably damaging 0.99
R8030:Rnf220 UTSW 4 117,135,025 (GRCm39) missense probably damaging 1.00
R8202:Rnf220 UTSW 4 117,347,070 (GRCm39) missense probably damaging 1.00
R8701:Rnf220 UTSW 4 117,347,190 (GRCm39) missense probably damaging 0.99
R9268:Rnf220 UTSW 4 117,346,833 (GRCm39) missense probably benign 0.09
R9452:Rnf220 UTSW 4 117,153,339 (GRCm39) missense probably benign 0.08
Posted On 2015-12-18