Incidental Mutation 'R0041:Rnf220'
ID 64701
Institutional Source Beutler Lab
Gene Symbol Rnf220
Ensembl Gene ENSMUSG00000028677
Gene Name ring finger protein 220
Synonyms 5730503K05Rik, 4931406I20Rik
MMRRC Submission 038335-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R0041 (G1)
Quality Score 104
Status Validated
Chromosome 4
Chromosomal Location 117128660-117354249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117130481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 293 (L293P)
Ref Sequence ENSEMBL: ENSMUSP00000092449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030439] [ENSMUST00000062824] [ENSMUST00000094853] [ENSMUST00000102690] [ENSMUST00000106433] [ENSMUST00000106434] [ENSMUST00000221654] [ENSMUST00000125943]
AlphaFold Q6PDX6
Predicted Effect probably damaging
Transcript: ENSMUST00000030439
AA Change: L506P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677
AA Change: L506P

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 probably benign
Transcript: ENSMUST00000062824
SMART Domains Protein: ENSMUSP00000061523
Gene: ENSMUSG00000048772

DomainStartEndE-ValueType
Pfam:DUF829 34 270 4.1e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094853
AA Change: L293P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092449
Gene: ENSMUSG00000028677
AA Change: L293P

DomainStartEndE-ValueType
low complexity region 176 187 N/A INTRINSIC
RING 301 339 1.62e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102690
AA Change: L185P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099751
Gene: ENSMUSG00000028677
AA Change: L185P

DomainStartEndE-ValueType
low complexity region 68 79 N/A INTRINSIC
RING 193 231 1.62e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106433
SMART Domains Protein: ENSMUSP00000102041
Gene: ENSMUSG00000048772

DomainStartEndE-ValueType
Pfam:DUF829 19 255 3.4e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106434
SMART Domains Protein: ENSMUSP00000102042
Gene: ENSMUSG00000048772

DomainStartEndE-ValueType
Pfam:DUF829 41 277 1.3e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145836
Predicted Effect probably benign
Transcript: ENSMUST00000151829
Predicted Effect probably damaging
Transcript: ENSMUST00000221654
AA Change: L248P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000125943
SMART Domains Protein: ENSMUSP00000121458
Gene: ENSMUSG00000048772

DomainStartEndE-ValueType
Pfam:DUF829 19 252 5.3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128122
SMART Domains Protein: ENSMUSP00000114642
Gene: ENSMUSG00000028677

DomainStartEndE-ValueType
low complexity region 94 105 N/A INTRINSIC
Meta Mutation Damage Score 0.1343 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,873,986 (GRCm39) R412G probably damaging Het
Adamts3 T A 5: 89,832,326 (GRCm39) N927Y probably benign Het
Adgra3 A G 5: 50,117,901 (GRCm39) Y1216H probably benign Het
Agpat3 C A 10: 78,123,881 (GRCm39) probably benign Het
AI182371 T A 2: 34,975,733 (GRCm39) Q277L possibly damaging Het
Arhgef15 A T 11: 68,845,342 (GRCm39) L170Q possibly damaging Het
Avpi1 C A 19: 42,112,223 (GRCm39) E112* probably null Het
Braf C T 6: 39,617,413 (GRCm39) A534T probably damaging Het
Bspry G C 4: 62,404,791 (GRCm39) A196P probably damaging Het
Cacna1c T A 6: 118,570,988 (GRCm39) L2095F probably damaging Het
Cdhr2 A T 13: 54,874,651 (GRCm39) S908C probably damaging Het
Cntnap5c C A 17: 58,183,464 (GRCm39) Q57K probably benign Het
Dtna C T 18: 23,779,932 (GRCm39) probably benign Het
Dynap A G 18: 70,375,105 (GRCm39) S37P possibly damaging Het
Efna5 A T 17: 62,914,467 (GRCm39) probably benign Het
Fancm T A 12: 65,153,217 (GRCm39) C1224* probably null Het
Fbxw16 T A 9: 109,277,232 (GRCm39) S37C probably damaging Het
Galnt4 A G 10: 98,944,374 (GRCm39) Y33C probably benign Het
Kcnk2 G T 1: 189,027,888 (GRCm39) N122K probably benign Het
Krt71 C A 15: 101,647,753 (GRCm39) E222D probably damaging Het
Ltf T A 9: 110,858,636 (GRCm39) D461E possibly damaging Het
Mapk4 A T 18: 74,068,109 (GRCm39) L274Q probably damaging Het
Mbd6 A G 10: 127,122,741 (GRCm39) C103R probably damaging Het
Nbeal1 A G 1: 60,321,030 (GRCm39) N2047S probably benign Het
Nefh C T 11: 4,895,184 (GRCm39) S335N possibly damaging Het
Obscn G T 11: 58,934,803 (GRCm39) H4715N probably damaging Het
Olfml1 A T 7: 107,189,393 (GRCm39) I153L possibly damaging Het
Or6d13 G A 6: 116,518,295 (GRCm39) V294I possibly damaging Het
Or8g34 T A 9: 39,372,772 (GRCm39) F12Y probably benign Het
Pck1 A G 2: 172,997,003 (GRCm39) E215G probably benign Het
Peg12 T A 7: 62,113,308 (GRCm39) E263V unknown Het
Phkg1 T A 5: 129,903,103 (GRCm39) T15S probably benign Het
Plekhg1 T A 10: 3,914,076 (GRCm39) L1120* probably null Het
Prss59 A T 6: 40,903,042 (GRCm39) L110* probably null Het
Rlf T A 4: 121,007,126 (GRCm39) H618L probably damaging Het
Rnf112 T A 11: 61,343,181 (GRCm39) R165W probably damaging Het
Rnf213 A G 11: 119,293,401 (GRCm39) T51A probably benign Het
Rock1 T C 18: 10,140,240 (GRCm39) D117G probably damaging Het
Rp1 A G 1: 4,414,851 (GRCm39) V2087A probably benign Het
Rpl7a A G 2: 26,801,563 (GRCm39) probably null Het
Serpinb6d A G 13: 33,851,615 (GRCm39) D124G probably damaging Het
Skor1 T G 9: 63,053,133 (GRCm39) T279P probably damaging Het
Son A T 16: 91,456,221 (GRCm39) E1656V probably damaging Het
Swap70 A G 7: 109,878,562 (GRCm39) K511E probably benign Het
Treh T C 9: 44,594,910 (GRCm39) V262A probably benign Het
Trpm4 A G 7: 44,954,370 (GRCm39) probably null Het
Ugt8a T C 3: 125,708,739 (GRCm39) I124V probably benign Het
Wdr53 T C 16: 32,075,473 (GRCm39) V226A probably damaging Het
Wdr64 G A 1: 175,554,037 (GRCm39) W189* probably null 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
IGL02963:Rnf220 APN 4 117,347,389 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- ACATGCCAACACTGGATCGACG -3'
(R):5'- TTGCCAAGCACCTGCCTTAGATAC -3'

Sequencing Primer
(F):5'- CGTCAGAGGCATCGAGTAAG -3'
(R):5'- TAGCTCTCCCCTGGGAGTG -3'
Posted On 2013-08-06