Incidental Mutation 'R7056:Rnf111'
ID 547929
Institutional Source Beutler Lab
Gene Symbol Rnf111
Ensembl Gene ENSMUSG00000032217
Gene Name ring finger 111
Synonyms Arkadia
MMRRC Submission 045153-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7056 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 70332706-70411007 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70360957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 501 (S501R)
Ref Sequence ENSEMBL: ENSMUSP00000149445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034739] [ENSMUST00000113595] [ENSMUST00000213647] [ENSMUST00000215848]
AlphaFold Q99ML9
Predicted Effect possibly damaging
Transcript: ENSMUST00000034739
AA Change: S501R

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: S501R

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 possibly damaging
Transcript: ENSMUST00000113595
AA Change: S501R

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: S501R

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 possibly damaging
Transcript: ENSMUST00000213647
AA Change: S501R

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215848
AA Change: S501R

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr T A 9: 95,744,916 (GRCm39) S78T probably damaging Het
B2m T C 2: 121,981,465 (GRCm39) L60P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cep350 A C 1: 155,724,373 (GRCm39) I3075S probably damaging Het
Cep97 A G 16: 55,725,935 (GRCm39) S651P probably damaging Het
Chrna5 C T 9: 54,888,985 (GRCm39) probably benign Het
Cog5 T C 12: 31,715,468 (GRCm39) V80A possibly damaging Het
Col9a2 G A 4: 120,906,913 (GRCm39) probably null Het
Cop1 C T 1: 159,077,647 (GRCm39) L161F probably damaging Het
Cyp4f17 A T 17: 32,746,846 (GRCm39) M383L possibly damaging Het
Dennd4a A G 9: 64,814,205 (GRCm39) D1474G possibly damaging Het
Dgkb A C 12: 38,150,492 (GRCm39) S100R probably benign Het
Dnah17 A G 11: 118,016,212 (GRCm39) V309A probably benign Het
Dner C A 1: 84,558,457 (GRCm39) R169L possibly damaging Het
Dus1l T C 11: 120,682,120 (GRCm39) E362G probably benign Het
Eed A T 7: 89,619,564 (GRCm39) S168T possibly damaging Het
Eif3a T A 19: 60,751,500 (GRCm39) probably null Het
Fam234b A G 6: 135,205,450 (GRCm39) S472G probably benign Het
Fbn2 T A 18: 58,209,798 (GRCm39) T1028S probably benign Het
Fbxw16 A G 9: 109,265,352 (GRCm39) V393A possibly damaging Het
Fig4 A T 10: 41,096,928 (GRCm39) L838Q probably benign Het
Gm13941 T G 2: 110,927,147 (GRCm39) S137R unknown Het
Gm9938 T G 19: 23,701,981 (GRCm39) probably benign Het
Igsf10 T G 3: 59,238,501 (GRCm39) D560A probably damaging Het
Lrrk2 T A 15: 91,659,198 (GRCm39) L1870* probably null Het
Mep1b T A 18: 21,224,247 (GRCm39) Y347N probably damaging Het
Mepce T C 5: 137,780,968 (GRCm39) N613D probably damaging Het
Mgat3 T G 15: 80,096,097 (GRCm39) L308R probably damaging Het
Morc2a A G 11: 3,625,925 (GRCm39) Y175C probably damaging Het
Necab2 A G 8: 120,178,878 (GRCm39) N98S probably benign Het
Net1 T C 13: 3,934,845 (GRCm39) M394V probably benign Het
Nfat5 G A 8: 108,094,738 (GRCm39) G993D probably damaging Het
Obscn C A 11: 58,887,122 (GRCm39) probably benign Het
Olr1 T C 6: 129,465,904 (GRCm39) H34R probably damaging Het
Or2ab1 A G 11: 58,489,044 (GRCm39) Y274C probably damaging Het
Or4f60 T C 2: 111,902,662 (GRCm39) N89D probably benign Het
Pmm2 T A 16: 8,460,628 (GRCm39) F27L probably damaging Het
Ptpdc1 C A 13: 48,740,466 (GRCm39) V261F possibly damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Radil A T 5: 142,480,109 (GRCm39) C670* probably null Het
Rasgrf2 C T 13: 92,167,203 (GRCm39) S290N probably damaging Het
Rbm33 T C 5: 28,599,001 (GRCm39) probably benign Het
Sel1l2 T A 2: 140,087,334 (GRCm39) I446F probably benign Het
Sh3pxd2b T C 11: 32,372,737 (GRCm39) S635P probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Smg1 T C 7: 117,745,623 (GRCm39) probably benign Het
Sorcs2 C A 5: 36,225,474 (GRCm39) D132Y probably damaging Het
Sox18 T C 2: 181,313,280 (GRCm39) D12G probably damaging Het
Srsf4 G T 4: 131,628,004 (GRCm39) probably benign Het
Susd4 C A 1: 182,660,721 (GRCm39) T81N probably benign Het
Tmem256 G T 11: 69,729,416 (GRCm39) probably benign Het
Tor4a T C 2: 25,084,853 (GRCm39) H350R probably benign Het
Ugt2a3 T A 5: 87,484,953 (GRCm39) S24C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r77 C T 7: 86,451,023 (GRCm39) T303I probably benign Het
Wdr70 T A 15: 7,913,877 (GRCm39) I591F possibly damaging Het
Wdr93 T C 7: 79,399,088 (GRCm39) I74T probably damaging Het
Zfp292 A T 4: 34,809,784 (GRCm39) C1087S probably damaging Het
Zfp592 T A 7: 80,673,067 (GRCm39) D10E probably damaging Het
Zfp69 A G 4: 120,788,295 (GRCm39) V340A probably benign Het
Zswim2 C T 2: 83,751,092 (GRCm39) probably null 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
R1884:Rnf111 UTSW 9 70,383,520 (GRCm39) missense probably damaging 0.99
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
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'- ACACACCTGGTCATGGTAGC -3'
(R):5'- AGTCTCACTAGCCCAGTATCAC -3'

Sequencing Primer
(F):5'- CTGGAACCAGAGCTGCTATTTGC -3'
(R):5'- ACACAGTACTTATTTTTATGCAGTGG -3'
Posted On 2019-05-13