Incidental Mutation 'R2915:Rnf20'
ID 254833
Institutional Source Beutler Lab
Gene Symbol Rnf20
Ensembl Gene ENSMUSG00000028309
Gene Name ring finger protein 20
Synonyms 4833430L21Rik
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 49632006-49656887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49638769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 197 (E197G)
Ref Sequence ENSEMBL: ENSMUSP00000118293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029989] [ENSMUST00000140341] [ENSMUST00000146547] [ENSMUST00000156314] [ENSMUST00000167496]
AlphaFold Q5DTM8
Predicted Effect probably benign
Transcript: ENSMUST00000029989
AA Change: E197G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309
AA Change: E197G

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 benign
Transcript: ENSMUST00000156314
AA Change: E197G

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118293
Gene: ENSMUSG00000028309
AA Change: E197G

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 benign
Transcript: ENSMUST00000167496
AA Change: E197G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309
AA Change: E197G

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 0.0710 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null 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
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
R6297:Rnf20 UTSW 4 49,642,132 (GRCm39) missense probably damaging 1.00
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'- GAACTTTGCTTTGAGGCTTTCC -3'
(R):5'- TCCAGGGAGCTTCGTTAAACTG -3'

Sequencing Primer
(F):5'- TGAGGGAAAATTTGCTATTTCCAG -3'
(R):5'- GAGCTTCGTTAAACTGAGTTTTCC -3'
Posted On 2014-12-29