Incidental Mutation 'R6395:Rnf111'
ID 514723
Institutional Source Beutler Lab
Gene Symbol Rnf111
Ensembl Gene ENSMUSG00000032217
Gene Name ring finger 111
Synonyms Arkadia
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 70332706-70411007 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 70383692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 80 (N80K)
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: N80K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: N80K

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 possibly damaging
Transcript: ENSMUST00000113595
AA Change: N80K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: N80K

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: N80K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213694
Predicted Effect possibly damaging
Transcript: ENSMUST00000215848
AA Change: N80K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.3%
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 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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 C A 2: 113,879,731 (GRCm39) E243* probably null Het
Ahi1 T C 10: 20,855,491 (GRCm39) I600T possibly damaging Het
Apob A G 12: 8,058,507 (GRCm39) T2330A probably benign Het
Cabin1 A T 10: 75,582,576 (GRCm39) M280K probably benign Het
Ccdc117 T C 11: 5,484,762 (GRCm39) probably null Het
Cct8 G T 16: 87,283,364 (GRCm39) Y292* probably null Het
Celf1 A G 2: 90,834,203 (GRCm39) I165V probably benign Het
Cenpc1 A T 5: 86,183,429 (GRCm39) N453K probably benign Het
Chst10 T C 1: 38,910,770 (GRCm39) I131M probably damaging Het
Cltc A G 11: 86,616,006 (GRCm39) I420T probably damaging Het
Cspg4b T G 13: 113,506,003 (GRCm39) C2377W probably damaging Het
Dact3 A C 7: 16,617,086 (GRCm39) Q95P probably damaging Het
Dennd2c T C 3: 103,056,540 (GRCm39) probably null Het
Dock2 G T 11: 34,182,874 (GRCm39) H1586Q probably damaging Het
Dst T C 1: 34,221,771 (GRCm39) M2525T probably benign Het
Egflam T C 15: 7,261,176 (GRCm39) H786R probably damaging Het
Eml6 T C 11: 29,759,321 (GRCm39) T811A probably benign Het
Epha1 T C 6: 42,343,106 (GRCm39) T148A probably damaging Het
Fsip1 A C 2: 118,067,406 (GRCm39) S306A probably damaging Het
Gga2 A T 7: 121,607,661 (GRCm39) probably null Het
Gm10801 C CGTT 2: 98,494,152 (GRCm39) probably benign Het
Gm9837 T A 11: 53,360,885 (GRCm39) probably benign Het
Gnl2 A T 4: 124,940,058 (GRCm39) Q310L probably damaging Het
H2-M1 T C 17: 36,982,701 (GRCm39) D53G probably benign Het
Hmcn2 T A 2: 31,259,269 (GRCm39) D1036E probably damaging Het
Htr3a A T 9: 48,811,871 (GRCm39) D381E probably benign Het
Igdcc4 G A 9: 65,042,400 (GRCm39) G106R probably damaging Het
Igfbp2 A G 1: 72,864,078 (GRCm39) T114A probably damaging Het
Ints14 A G 9: 64,885,406 (GRCm39) probably null Het
Kcnt1 T A 2: 25,799,251 (GRCm39) M906K possibly damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lars2 A G 9: 123,200,990 (GRCm39) Q18R probably benign Het
Mndal C T 1: 173,698,999 (GRCm39) C222Y possibly damaging Het
Msto1 C T 3: 88,812,781 (GRCm39) A1854V possibly damaging Het
Musk G A 4: 58,286,169 (GRCm39) G20R probably benign Het
Or6c215 G T 10: 129,638,013 (GRCm39) P127Q probably damaging Het
Oxct1 G T 15: 4,056,309 (GRCm39) S19I possibly damaging Het
Papss2 G A 19: 32,641,876 (GRCm39) G517D probably damaging Het
Parp14 T C 16: 35,676,918 (GRCm39) S1017G probably benign Het
Pde2a A G 7: 101,150,242 (GRCm39) Q227R probably benign Het
Pdlim5 G T 3: 142,020,183 (GRCm39) P92Q probably damaging Het
Pkd1l3 C T 8: 110,350,595 (GRCm39) T480I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Ppp3ca A G 3: 136,583,531 (GRCm39) R213G possibly damaging Het
Pramel18 G A 4: 101,767,189 (GRCm39) R146H probably benign Het
Prrc1 C T 18: 57,495,619 (GRCm39) S32L probably null Het
Prss47 C T 13: 65,197,116 (GRCm39) V207I probably benign Het
Prtg G A 9: 72,819,414 (GRCm39) V1136I possibly damaging Het
Psmb8 T A 17: 34,418,265 (GRCm39) M69K possibly damaging Het
Rb1 A T 14: 73,436,636 (GRCm39) D876E probably damaging Het
Rnasel T C 1: 153,637,867 (GRCm39) M680T probably damaging Het
Senp1 C T 15: 97,946,074 (GRCm39) C557Y probably damaging Het
Serpina3a A T 12: 104,082,710 (GRCm39) Y161F probably damaging Het
Serpinb11 A T 1: 107,299,781 (GRCm39) probably null Het
Sgpl1 C A 10: 60,947,936 (GRCm39) probably null Het
Slc37a4 A G 9: 44,310,576 (GRCm39) Y60C probably damaging Het
Slc38a10 A G 11: 120,015,208 (GRCm39) S381P probably benign Het
Slc5a7 C T 17: 54,585,849 (GRCm39) V323I probably damaging Het
Slco1a7 T A 6: 141,668,818 (GRCm39) probably null Het
Smarcal1 A T 1: 72,655,716 (GRCm39) E665V possibly damaging Het
Specc1 C A 11: 62,023,164 (GRCm39) N736K probably damaging Het
Tas2r121 T C 6: 132,677,495 (GRCm39) Y159C probably benign Het
Tex54 A G 19: 8,718,462 (GRCm39) D68G probably benign Het
Trank1 A G 9: 111,196,268 (GRCm39) I1431V probably damaging Het
Ttll6 T C 11: 96,047,414 (GRCm39) V671A probably benign Het
Ttn A T 2: 76,748,931 (GRCm39) probably benign Het
Uimc1 T C 13: 55,188,389 (GRCm39) T557A possibly damaging Het
Uri1 C A 7: 37,661,974 (GRCm39) V446L probably benign Het
Vpreb1b C T 16: 17,798,771 (GRCm39) R86C probably damaging Het
Vwa8 A G 14: 79,331,184 (GRCm39) K1231E probably benign Het
Xcr1 G A 9: 123,684,854 (GRCm39) R303C probably damaging Het
Zfp619 C A 7: 39,186,454 (GRCm39) A828E possibly damaging Het
Zfp687 T C 3: 94,915,049 (GRCm39) S1151G 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
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
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'- CTGAAGTCACTGTATCAGAGCCC -3'
(R):5'- AAGAGTGGGACTCCTGATGC -3'

Sequencing Primer
(F):5'- TGTATCAGAGCCCCCAAAATGGAG -3'
(R):5'- TGATGCGCCCACTACACAGG -3'
Posted On 2018-05-04