Incidental Mutation 'R6297:Rnf20'
ID 508829
Institutional Source Beutler Lab
Gene Symbol Rnf20
Ensembl Gene ENSMUSG00000028309
Gene Name ring finger protein 20
Synonyms 4833430L21Rik
MMRRC Submission 044464-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6297 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 49632006-49656887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49642132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 232 (L232P)
Ref Sequence ENSEMBL: ENSMUSP00000118293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029989] [ENSMUST00000140341] [ENSMUST00000146547] [ENSMUST00000156314] [ENSMUST00000167496]
AlphaFold Q5DTM8
Predicted Effect probably damaging
Transcript: ENSMUST00000029989
AA Change: L232P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309
AA Change: L232P

DomainStartEndE-ValueType
coiled coil region 45 85 N/A INTRINSIC
coiled coil region 172 200 N/A INTRINSIC
coiled coil region 317 378 N/A INTRINSIC
coiled coil region 429 514 N/A INTRINSIC
coiled coil region 550 733 N/A INTRINSIC
coiled coil region 769 805 N/A INTRINSIC
coiled coil region 828 867 N/A INTRINSIC
RING 920 958 2e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132782
Predicted Effect probably benign
Transcript: ENSMUST00000140341
SMART Domains Protein: ENSMUSP00000121334
Gene: ENSMUSG00000028309

DomainStartEndE-ValueType
coiled coil region 45 85 N/A INTRINSIC
low complexity region 164 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146547
SMART Domains Protein: ENSMUSP00000120668
Gene: ENSMUSG00000028309

DomainStartEndE-ValueType
coiled coil region 45 85 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149862
Predicted Effect probably damaging
Transcript: ENSMUST00000156314
AA Change: L232P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118293
Gene: ENSMUSG00000028309
AA Change: L232P

DomainStartEndE-ValueType
coiled coil region 45 85 N/A INTRINSIC
low complexity region 164 172 N/A INTRINSIC
SCOP:d1gw5a_ 174 294 3e-3 SMART
coiled coil region 317 378 N/A INTRINSIC
coiled coil region 429 514 N/A INTRINSIC
coiled coil region 550 606 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167496
AA Change: L232P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309
AA Change: L232P

DomainStartEndE-ValueType
coiled coil region 45 85 N/A INTRINSIC
coiled coil region 172 200 N/A INTRINSIC
coiled coil region 317 378 N/A INTRINSIC
coiled coil region 429 514 N/A INTRINSIC
coiled coil region 550 733 N/A INTRINSIC
coiled coil region 769 805 N/A INTRINSIC
coiled coil region 828 867 N/A INTRINSIC
RING 920 958 2e-4 SMART
Meta Mutation Damage Score 0.8970 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,926,179 (GRCm39) V1205A probably benign Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Ate1 A G 7: 130,105,570 (GRCm39) V316A probably damaging Het
Bpifa1 A G 2: 153,986,180 (GRCm39) I102V probably benign Het
Catsperb A G 12: 101,557,655 (GRCm39) probably null Het
Ccdc47 T C 11: 106,094,427 (GRCm39) Y324C probably damaging Het
Cdh22 T C 2: 164,985,564 (GRCm39) K341E possibly damaging Het
Cenpb A G 2: 131,020,289 (GRCm39) probably benign Het
Dgkd A G 1: 87,853,866 (GRCm39) I570V possibly damaging Het
Dhx32 A T 7: 133,344,529 (GRCm39) Y27N probably damaging Het
Dnah10 A G 5: 124,852,144 (GRCm39) D1824G possibly damaging Het
Fbxo8 T A 8: 57,022,323 (GRCm39) C112S probably damaging Het
Fndc3a T C 14: 72,800,980 (GRCm39) D590G probably damaging Het
Gm19965 T A 1: 116,750,410 (GRCm39) I697N possibly damaging Het
Greb1l G A 18: 10,469,494 (GRCm39) D170N probably damaging Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Igfn1 A T 1: 135,892,399 (GRCm39) probably null Het
Ighg2b T C 12: 113,270,512 (GRCm39) E206G unknown Het
Ints15 A T 5: 143,293,787 (GRCm39) L230Q possibly damaging Het
Lman2 T C 13: 55,496,244 (GRCm39) N267S probably damaging Het
Lrfn5 A T 12: 61,890,348 (GRCm39) I546F probably benign Het
Lrrc4c T C 2: 97,459,964 (GRCm39) S197P probably damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mdga2 A G 12: 66,553,027 (GRCm39) Y793H probably damaging Het
Mdn1 C T 4: 32,730,054 (GRCm39) R2799* probably null Het
Mup13 T A 4: 61,181,634 (GRCm39) I148F probably benign Het
Or2aj5 A C 16: 19,424,680 (GRCm39) V246G possibly damaging Het
Or5m10 A G 2: 85,717,159 (GRCm39) N5S probably benign Het
Or8g53 A T 9: 39,683,522 (GRCm39) D191E possibly damaging Het
Pdgfra A G 5: 75,334,135 (GRCm39) K403E possibly damaging Het
Pigz A T 16: 31,763,755 (GRCm39) Y271F probably damaging Het
Plekhg4 T C 8: 106,104,472 (GRCm39) L517P probably damaging Het
Rpa3 C A 6: 8,256,767 (GRCm39) G71* probably null Het
Rsf1 GCG GCGACGGCGTCG 7: 97,229,114 (GRCm39) probably benign Het
Rubcnl A G 14: 75,287,584 (GRCm39) T623A probably benign Het
Sltm A G 9: 70,488,641 (GRCm39) D597G probably damaging Het
Stpg2 T C 3: 139,407,432 (GRCm39) V528A possibly damaging Het
Supt6 C T 11: 78,116,885 (GRCm39) R589Q possibly damaging Het
Tas1r2 T A 4: 139,389,361 (GRCm39) M419K possibly damaging Het
Txndc16 T C 14: 45,389,243 (GRCm39) T486A probably benign Het
Vamp9 A G 5: 100,089,092 (GRCm39) Y119C probably damaging Het
Vmn1r185 A G 7: 26,311,046 (GRCm39) V153A probably benign Het
Vmn2r48 T C 7: 9,668,807 (GRCm39) N548D probably damaging Het
Washc5 A G 15: 59,215,895 (GRCm39) I378T possibly damaging Het
Wdr37 A G 13: 8,892,764 (GRCm39) probably null Het
Xrn2 G A 2: 146,868,490 (GRCm39) R181H probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Other mutations in Rnf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Rnf20 APN 4 49,655,480 (GRCm39) nonsense probably null
IGL01319:Rnf20 APN 4 49,649,326 (GRCm39) missense probably damaging 0.99
IGL01666:Rnf20 APN 4 49,654,486 (GRCm39) nonsense probably null
IGL01975:Rnf20 APN 4 49,654,473 (GRCm39) missense probably benign 0.00
IGL02130:Rnf20 APN 4 49,644,481 (GRCm39) splice site probably benign
IGL02179:Rnf20 APN 4 49,638,712 (GRCm39) missense probably benign 0.04
IGL03096:Rnf20 APN 4 49,638,615 (GRCm39) splice site probably benign
IGL03120:Rnf20 APN 4 49,649,955 (GRCm39) splice site probably benign
IGL03208:Rnf20 APN 4 49,645,706 (GRCm39) splice site probably benign
IGL03257:Rnf20 APN 4 49,645,687 (GRCm39) missense probably benign 0.19
IGL03349:Rnf20 APN 4 49,655,936 (GRCm39) missense probably damaging 1.00
R0372:Rnf20 UTSW 4 49,650,176 (GRCm39) missense possibly damaging 0.53
R0486:Rnf20 UTSW 4 49,645,907 (GRCm39) missense possibly damaging 0.57
R0791:Rnf20 UTSW 4 49,638,197 (GRCm39) missense possibly damaging 0.92
R0927:Rnf20 UTSW 4 49,642,176 (GRCm39) missense probably damaging 1.00
R1256:Rnf20 UTSW 4 49,638,230 (GRCm39) missense probably benign 0.33
R1272:Rnf20 UTSW 4 49,651,496 (GRCm39) missense probably damaging 0.99
R1460:Rnf20 UTSW 4 49,645,873 (GRCm39) splice site probably benign
R1522:Rnf20 UTSW 4 49,638,197 (GRCm39) missense possibly damaging 0.92
R1698:Rnf20 UTSW 4 49,651,498 (GRCm39) nonsense probably null
R1848:Rnf20 UTSW 4 49,644,628 (GRCm39) missense probably damaging 1.00
R2214:Rnf20 UTSW 4 49,648,344 (GRCm39) missense possibly damaging 0.77
R2497:Rnf20 UTSW 4 49,652,676 (GRCm39) splice site probably null
R2915:Rnf20 UTSW 4 49,638,769 (GRCm39) missense probably benign 0.13
R4726:Rnf20 UTSW 4 49,654,579 (GRCm39) nonsense probably null
R4770:Rnf20 UTSW 4 49,633,412 (GRCm39) critical splice donor site probably null
R4799:Rnf20 UTSW 4 49,649,962 (GRCm39) critical splice acceptor site probably null
R4960:Rnf20 UTSW 4 49,638,029 (GRCm39) missense probably damaging 0.99
R5022:Rnf20 UTSW 4 49,642,016 (GRCm39) intron probably benign
R5146:Rnf20 UTSW 4 49,651,456 (GRCm39) missense probably benign 0.21
R5379:Rnf20 UTSW 4 49,652,639 (GRCm39) missense possibly damaging 0.47
R5423:Rnf20 UTSW 4 49,644,620 (GRCm39) missense probably damaging 0.99
R6608:Rnf20 UTSW 4 49,650,051 (GRCm39) missense probably benign 0.05
R7064:Rnf20 UTSW 4 49,644,580 (GRCm39) nonsense probably null
R7776:Rnf20 UTSW 4 49,644,592 (GRCm39) nonsense probably null
R8735:Rnf20 UTSW 4 49,655,964 (GRCm39) missense possibly damaging 0.95
R8995:Rnf20 UTSW 4 49,648,437 (GRCm39) missense possibly damaging 0.94
R9599:Rnf20 UTSW 4 49,638,751 (GRCm39) missense probably benign 0.00
R9661:Rnf20 UTSW 4 49,654,556 (GRCm39) missense probably damaging 0.99
Z1177:Rnf20 UTSW 4 49,645,655 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGGTTACTTTCTGACATTCTGAGG -3'
(R):5'- TCATGGACGTTGCTCTCTCAG -3'

Sequencing Primer
(F):5'- ACTTTCTGACATTCTGAGGATAGTG -3'
(R):5'- GACGTTGCTCTCTCAGAGTTGAC -3'
Posted On 2018-04-02