Incidental Mutation 'R1884:Rnf111'
ID 209358
Institutional Source Beutler Lab
Gene Symbol Rnf111
Ensembl Gene ENSMUSG00000032217
Gene Name ring finger 111
Synonyms Arkadia
MMRRC Submission 039905-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1884 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 70332706-70411007 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70383520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 138 (S138T)
Ref Sequence ENSEMBL: ENSMUSP00000149445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034739] [ENSMUST00000113595] [ENSMUST00000213647] [ENSMUST00000215848]
AlphaFold Q99ML9
Predicted Effect probably damaging
Transcript: ENSMUST00000034739
AA Change: S138T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: S138T

DomainStartEndE-ValueType
Pfam:RNF111_N 18 290 2.5e-112 PFAM
low complexity region 340 355 N/A INTRINSIC
low complexity region 503 518 N/A INTRINSIC
low complexity region 623 632 N/A INTRINSIC
low complexity region 692 707 N/A INTRINSIC
low complexity region 744 758 N/A INTRINSIC
low complexity region 759 776 N/A INTRINSIC
low complexity region 820 837 N/A INTRINSIC
low complexity region 924 935 N/A INTRINSIC
RING 937 977 3e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083268
Predicted Effect probably damaging
Transcript: ENSMUST00000113595
AA Change: S138T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: S138T

DomainStartEndE-ValueType
Pfam:RNF111_N 18 290 1.8e-97 PFAM
low complexity region 340 355 N/A INTRINSIC
low complexity region 503 518 N/A INTRINSIC
low complexity region 623 632 N/A INTRINSIC
low complexity region 692 707 N/A INTRINSIC
low complexity region 744 758 N/A INTRINSIC
low complexity region 759 776 N/A INTRINSIC
low complexity region 820 837 N/A INTRINSIC
low complexity region 924 935 N/A INTRINSIC
RING 937 977 3e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000213647
AA Change: S138T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213694
Predicted Effect probably damaging
Transcript: ENSMUST00000215848
AA Change: S138T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.2684 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.3%
Validation Efficiency 99% (94/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele fail to develop anterior structures and midline with failure to develop anterior endoderm, node and mesendoderm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T C 9: 103,991,684 (GRCm39) M573T probably benign Het
Ank3 A G 10: 69,851,422 (GRCm39) T1162A possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arpp21 T A 9: 111,972,595 (GRCm39) D232V probably damaging Het
Atg2a T C 19: 6,304,414 (GRCm39) Y1144H probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Brs3 T C X: 56,092,449 (GRCm39) I311T probably benign Het
Cenpf C T 1: 189,379,046 (GRCm39) V2915I probably benign Het
Cep170 G T 1: 176,602,245 (GRCm39) T287K probably benign Het
Chst2 G A 9: 95,287,611 (GRCm39) T245I probably damaging Het
Cnot4 C T 6: 35,055,092 (GRCm39) V66I probably damaging Het
Cntn4 A G 6: 106,656,353 (GRCm39) T885A probably benign Het
Col20a1 C T 2: 180,634,703 (GRCm39) T131I possibly damaging Het
Coro7 G T 16: 4,446,683 (GRCm39) probably benign Het
Cpne8 C A 15: 90,532,831 (GRCm39) probably benign Het
Dbnl G A 11: 5,749,247 (GRCm39) G356E probably benign Het
Ddx31 T A 2: 28,749,002 (GRCm39) I266N probably damaging Het
Dnah7a A T 1: 53,580,159 (GRCm39) I1592N probably damaging Het
Dok6 A T 18: 89,492,130 (GRCm39) L149Q probably damaging Het
Eri2 G A 7: 119,390,346 (GRCm39) T94I probably benign Het
Ermp1 A G 19: 29,594,079 (GRCm39) V697A probably benign Het
Foxc1 C T 13: 31,991,648 (GRCm39) T153M probably damaging Het
Fry A G 5: 150,326,985 (GRCm39) I1224V probably benign Het
Fzd5 G A 1: 64,774,813 (GRCm39) T316M probably damaging Het
Gcm1 G T 9: 77,966,861 (GRCm39) V27L probably benign Het
Gm5773 A T 3: 93,681,348 (GRCm39) D340V probably benign Het
Gucy2d T A 7: 98,100,815 (GRCm39) H379Q probably benign Het
Hectd1 T A 12: 51,847,738 (GRCm39) M392L probably benign Het
Itpr2 A C 6: 146,287,469 (GRCm39) D452E probably benign Het
Krtap2-4 G C 11: 99,505,505 (GRCm39) probably benign Het
Lrit1 T C 14: 36,783,710 (GRCm39) V346A possibly damaging Het
Lrrk1 A G 7: 65,912,185 (GRCm39) S1792P probably benign Het
Marveld2 A T 13: 100,737,129 (GRCm39) V168E probably benign Het
Ms4a4b T A 19: 11,438,629 (GRCm39) D149E probably damaging Het
Myom2 G A 8: 15,164,278 (GRCm39) D1058N probably benign Het
Ncam2 C T 16: 81,234,571 (GRCm39) P142L probably damaging Het
Nek9 A G 12: 85,379,330 (GRCm39) L192P probably damaging Het
Nol10 T C 12: 17,418,390 (GRCm39) probably null Het
Nrcam T C 12: 44,591,538 (GRCm39) V194A probably damaging Het
Nudt6 A G 3: 37,466,549 (GRCm39) V82A probably benign Het
Odf2l A T 3: 144,856,809 (GRCm39) N492I probably damaging Het
Or2a12 T C 6: 42,904,764 (GRCm39) S200P probably damaging Het
Or51f1d T C 7: 102,701,189 (GRCm39) I228T probably benign Het
Pkn3 T C 2: 29,972,840 (GRCm39) V276A probably damaging Het
Prl3b1 T G 13: 27,431,886 (GRCm39) L137R possibly damaging Het
Rab11fip2 A G 19: 59,925,762 (GRCm39) F10L probably damaging Het
Rab3b T A 4: 108,786,649 (GRCm39) V133E probably damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Runx1t1 A G 4: 13,835,767 (GRCm39) T75A probably benign Het
Ryr2 T G 13: 11,753,242 (GRCm39) K1693T probably damaging Het
Sdha A T 13: 74,481,255 (GRCm39) I317N probably damaging Het
Serpina1d T A 12: 103,732,037 (GRCm39) D274V possibly damaging Het
Setd2 T G 9: 110,385,486 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,141,646 (GRCm39) Y1109C probably damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc22a2 A G 17: 12,833,713 (GRCm39) probably benign Het
Slc35f4 A T 14: 49,551,091 (GRCm39) W108R probably damaging Het
Slc4a1ap A G 5: 31,691,524 (GRCm39) E440G probably damaging Het
Slc6a4 A G 11: 76,904,201 (GRCm39) T219A probably benign Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Svil T G 18: 5,094,640 (GRCm39) V1440G possibly damaging Het
Tas2r126 A T 6: 42,411,961 (GRCm39) T165S probably benign Het
Tbck T C 3: 132,430,677 (GRCm39) probably null Het
Tnxb T A 17: 34,908,539 (GRCm39) D1520E probably benign Het
Top1mt C T 15: 75,539,750 (GRCm39) R287H possibly damaging Het
Trdn A G 10: 33,133,091 (GRCm39) K314E probably benign Het
Troap T A 15: 98,975,779 (GRCm39) C233S probably benign Het
Usp28 T C 9: 48,947,247 (GRCm39) M571T probably damaging Het
Vac14 A G 8: 111,438,319 (GRCm39) H644R probably damaging Het
Vipr1 C T 9: 121,494,930 (GRCm39) P327L possibly damaging Het
Vmn1r31 C T 6: 58,449,029 (GRCm39) V279I probably damaging Het
Vmn1r69 G A 7: 10,314,678 (GRCm39) R18W probably benign Het
Vmn2r18 G T 5: 151,499,190 (GRCm39) Q425K probably benign Het
Vmn2r60 T C 7: 41,786,094 (GRCm39) V299A probably damaging Het
Vps13b A T 15: 35,430,437 (GRCm39) probably benign Het
Zfp157 A G 5: 138,443,102 (GRCm39) D31G probably damaging Het
Zfp385c A C 11: 100,521,532 (GRCm39) V176G probably benign Het
Zfp831 A G 2: 174,545,870 (GRCm39) H1325R possibly damaging Het
Other mutations in Rnf111
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02473:Rnf111 APN 9 70,348,140 (GRCm39) missense probably damaging 1.00
IGL02567:Rnf111 APN 9 70,366,287 (GRCm39) missense probably damaging 1.00
R0052:Rnf111 UTSW 9 70,383,671 (GRCm39) missense probably benign 0.00
R0245:Rnf111 UTSW 9 70,361,113 (GRCm39) splice site probably benign
R0760:Rnf111 UTSW 9 70,336,960 (GRCm39) missense probably damaging 1.00
R1327:Rnf111 UTSW 9 70,361,098 (GRCm39) missense possibly damaging 0.60
R1778:Rnf111 UTSW 9 70,383,394 (GRCm39) missense probably benign 0.00
R1892:Rnf111 UTSW 9 70,383,656 (GRCm39) missense probably damaging 1.00
R2261:Rnf111 UTSW 9 70,383,673 (GRCm39) missense probably benign
R2762:Rnf111 UTSW 9 70,383,327 (GRCm39) missense possibly damaging 0.82
R3980:Rnf111 UTSW 9 70,349,607 (GRCm39) missense probably damaging 1.00
R4577:Rnf111 UTSW 9 70,336,866 (GRCm39) nonsense probably null
R4631:Rnf111 UTSW 9 70,357,678 (GRCm39) missense probably benign 0.07
R4804:Rnf111 UTSW 9 70,338,239 (GRCm39) missense possibly damaging 0.70
R5153:Rnf111 UTSW 9 70,383,422 (GRCm39) missense probably benign 0.35
R5500:Rnf111 UTSW 9 70,383,325 (GRCm39) missense possibly damaging 0.94
R5546:Rnf111 UTSW 9 70,366,378 (GRCm39) missense probably benign 0.05
R5975:Rnf111 UTSW 9 70,336,862 (GRCm39) missense probably damaging 1.00
R6395:Rnf111 UTSW 9 70,383,692 (GRCm39) missense possibly damaging 0.95
R6482:Rnf111 UTSW 9 70,336,889 (GRCm39) missense probably damaging 1.00
R7056:Rnf111 UTSW 9 70,360,957 (GRCm39) missense possibly damaging 0.60
R7239:Rnf111 UTSW 9 70,376,655 (GRCm39) missense probably damaging 1.00
R7444:Rnf111 UTSW 9 70,348,125 (GRCm39) missense probably damaging 1.00
R7618:Rnf111 UTSW 9 70,410,614 (GRCm39) start gained probably benign
R8068:Rnf111 UTSW 9 70,365,223 (GRCm39) missense probably benign 0.00
R8323:Rnf111 UTSW 9 70,383,204 (GRCm39) missense probably benign 0.03
R8444:Rnf111 UTSW 9 70,365,223 (GRCm39) missense probably benign 0.00
R8997:Rnf111 UTSW 9 70,383,545 (GRCm39) missense probably damaging 0.98
R9108:Rnf111 UTSW 9 70,336,846 (GRCm39) missense probably damaging 1.00
R9774:Rnf111 UTSW 9 70,334,303 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCTTAGTGCACTGCCATG -3'
(R):5'- GAAGGACATGACTGGCAACC -3'

Sequencing Primer
(F):5'- TTAGTGCACTGCCATGAAAAC -3'
(R):5'- CCTCATATGTGCAGAACTG -3'
Posted On 2014-06-30