Incidental Mutation 'IGL01319:Rnf20'
ID73980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf20
Ensembl Gene ENSMUSG00000028309
Gene Namering finger protein 20
Synonyms4833430L21Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01319
Quality Score
Status
Chromosome4
Chromosomal Location49632006-49656887 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 49649326 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 443 (D443E)
Ref Sequence ENSEMBL: ENSMUSP00000118293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029989] [ENSMUST00000146547] [ENSMUST00000156314] [ENSMUST00000167496]
Predicted Effect probably damaging
Transcript: ENSMUST00000029989
AA Change: D443E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309
AA Change: D443E

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: ENSMUST00000131962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138490
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: D443E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118293
Gene: ENSMUSG00000028309
AA Change: D443E

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: D443E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309
AA Change: D443E

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,933,642 V307E probably benign Het
Bub1b T C 2: 118,614,994 I265T possibly damaging Het
Cntnap3 G A 13: 64,787,837 T404I probably damaging Het
Disc1 T C 8: 125,087,891 S165P probably damaging Het
Dock1 T C 7: 134,789,278 F756L probably benign Het
Dock2 A G 11: 34,698,790 V480A possibly damaging Het
Drc3 A G 11: 60,364,962 D125G probably null Het
Emid1 C T 11: 5,143,859 C96Y probably damaging Het
F13b A G 1: 139,506,793 N99S probably damaging Het
Fam20a A G 11: 109,678,458 probably benign Het
Fancd2 C A 6: 113,584,899 T1243K probably damaging Het
Fbxw14 T C 9: 109,278,791 K172E probably damaging Het
Gm13941 T C 2: 111,094,805 probably null Het
Gtpbp4 A T 13: 8,985,260 N354K probably benign Het
Igkv2-116 T C 6: 68,152,404 L50P probably benign Het
Klrb1-ps1 C T 6: 129,116,585 P23L possibly damaging Het
Kng2 T A 16: 23,028,834 I26F probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrpprc T C 17: 84,705,412 probably benign Het
Man2a2 C T 7: 80,361,132 V704M possibly damaging Het
Mbip A G 12: 56,330,242 V303A probably benign Het
Mipep A T 14: 60,843,271 M571L probably benign Het
Ncan A T 8: 70,097,562 V1188D probably damaging Het
Pcdhb4 T C 18: 37,308,513 V292A probably benign Het
Pkd1 T C 17: 24,587,919 probably benign Het
Ppp2r2c T A 5: 36,947,121 S282T possibly damaging Het
Rad54l2 C T 9: 106,719,046 G231D probably benign Het
Rptor A G 11: 119,891,170 M1108V probably benign Het
Serpine2 A G 1: 79,810,694 V182A probably damaging Het
Sesn2 C T 4: 132,499,967 probably benign Het
Shank1 C A 7: 44,353,123 A1422E possibly damaging Het
Slc13a4 C T 6: 35,307,353 probably null Het
Snrnp200 T C 2: 127,230,127 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tbxas1 A G 6: 39,017,973 I178V probably benign Het
Tmem2 C T 19: 21,844,757 P1172L possibly damaging Het
Triml1 A G 8: 43,141,397 probably benign Het
Tsen2 A T 6: 115,576,984 Q441L probably damaging Het
Ttc23l A G 15: 10,509,406 probably benign Het
Ttc37 A G 13: 76,129,379 H491R probably benign Het
Ttn T C 2: 76,881,304 probably benign Het
Vsig10l C T 7: 43,465,254 S293L probably damaging Het
Zcchc13 C A X: 103,631,000 Q110K possibly damaging Het
Other mutations in Rnf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Rnf20 APN 4 49655480 nonsense probably null
IGL01666:Rnf20 APN 4 49654486 nonsense probably null
IGL01975:Rnf20 APN 4 49654473 missense probably benign 0.00
IGL02130:Rnf20 APN 4 49644481 splice site probably benign
IGL02179:Rnf20 APN 4 49638712 missense probably benign 0.04
IGL03096:Rnf20 APN 4 49638615 splice site probably benign
IGL03120:Rnf20 APN 4 49649955 splice site probably benign
IGL03208:Rnf20 APN 4 49645706 splice site probably benign
IGL03257:Rnf20 APN 4 49645687 missense probably benign 0.19
IGL03349:Rnf20 APN 4 49655936 missense probably damaging 1.00
R0372:Rnf20 UTSW 4 49650176 missense possibly damaging 0.53
R0486:Rnf20 UTSW 4 49645907 missense possibly damaging 0.57
R0791:Rnf20 UTSW 4 49638197 missense possibly damaging 0.92
R0927:Rnf20 UTSW 4 49642176 missense probably damaging 1.00
R1256:Rnf20 UTSW 4 49638230 missense probably benign 0.33
R1272:Rnf20 UTSW 4 49651496 missense probably damaging 0.99
R1460:Rnf20 UTSW 4 49645873 splice site probably benign
R1522:Rnf20 UTSW 4 49638197 missense possibly damaging 0.92
R1698:Rnf20 UTSW 4 49651498 nonsense probably null
R1848:Rnf20 UTSW 4 49644628 missense probably damaging 1.00
R2214:Rnf20 UTSW 4 49648344 missense possibly damaging 0.77
R2497:Rnf20 UTSW 4 49652676 splice site probably null
R2915:Rnf20 UTSW 4 49638769 missense probably benign 0.13
R4726:Rnf20 UTSW 4 49654579 nonsense probably null
R4770:Rnf20 UTSW 4 49633412 critical splice donor site probably null
R4799:Rnf20 UTSW 4 49649962 critical splice acceptor site probably null
R4960:Rnf20 UTSW 4 49638029 missense probably damaging 0.99
R5022:Rnf20 UTSW 4 49642016 intron probably benign
R5146:Rnf20 UTSW 4 49651456 missense probably benign 0.21
R5379:Rnf20 UTSW 4 49652639 missense possibly damaging 0.47
R5423:Rnf20 UTSW 4 49644620 missense probably damaging 0.99
R6297:Rnf20 UTSW 4 49642132 missense probably damaging 1.00
R6608:Rnf20 UTSW 4 49650051 missense probably benign 0.05
R7064:Rnf20 UTSW 4 49644580 nonsense probably null
R7776:Rnf20 UTSW 4 49644592 nonsense probably null
Z1177:Rnf20 UTSW 4 49645655 missense probably damaging 0.98
Posted On2013-10-07