Incidental Mutation 'R7703:Ring1'
ID 594150
Institutional Source Beutler Lab
Gene Symbol Ring1
Ensembl Gene ENSMUSG00000024325
Gene Name ring finger protein 1
Synonyms Ring1A
MMRRC Submission 045764-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.723) question?
Stock # R7703 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 34239766-34243654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34242109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 100 (D100G)
Ref Sequence ENSEMBL: ENSMUSP00000025183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025183] [ENSMUST00000045467] [ENSMUST00000114303]
AlphaFold O35730
Predicted Effect probably damaging
Transcript: ENSMUST00000025183
AA Change: D100G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025183
Gene: ENSMUSG00000024325
AA Change: D100G

DomainStartEndE-ValueType
RING 48 87 7.92e-8 SMART
low complexity region 171 229 N/A INTRINSIC
low complexity region 236 261 N/A INTRINSIC
Pfam:RAWUL 272 400 4.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045467
SMART Domains Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422

DomainStartEndE-ValueType
Pfam:KR 10 201 1.5e-16 PFAM
Pfam:adh_short 10 213 4.5e-52 PFAM
Pfam:adh_short_C2 16 258 8.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114303
SMART Domains Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422

DomainStartEndE-ValueType
Pfam:KR 10 202 5.5e-16 PFAM
Pfam:adh_short 22 193 2.7e-30 PFAM
Pfam:adh_short_C2 23 234 1.4e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both homozygous and heterozygous mutant mice show axial skeleton defects including anterior transformations of vertebrae and rib abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T C 11: 58,316,593 (GRCm39) I191T probably damaging Het
2310003L06Rik T C 5: 88,120,671 (GRCm39) L476P possibly damaging Het
Aasdh T C 5: 77,035,924 (GRCm39) D387G probably damaging Het
Ahsa2 T A 11: 23,440,415 (GRCm39) T327S probably benign Het
Ap3d1 A T 10: 80,553,678 (GRCm39) V523E probably damaging Het
Baz2b C A 2: 59,747,769 (GRCm39) R1298L probably damaging Het
Cacna2d3 T C 14: 28,765,503 (GRCm39) T802A possibly damaging Het
Cdh23 G T 10: 60,173,043 (GRCm39) T1714K probably damaging Het
Chrna3 A T 9: 54,923,408 (GRCm39) D133E probably benign Het
Cnot1 C T 8: 96,486,726 (GRCm39) probably null Het
Col16a1 A T 4: 129,990,295 (GRCm39) N1396Y unknown Het
Cox11 A G 11: 90,529,245 (GRCm39) N77S probably benign Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cytip A G 2: 58,037,920 (GRCm39) V148A probably damaging Het
Diaph1 T C 18: 38,023,862 (GRCm39) I659V unknown Het
Dmxl2 A T 9: 54,368,370 (GRCm39) M26K probably benign Het
Erp44 T A 4: 48,196,904 (GRCm39) I340F probably benign Het
Fam186a A G 15: 99,852,678 (GRCm39) M180T unknown Het
Frem2 C T 3: 53,429,589 (GRCm39) V2793I probably benign Het
Gm19410 A G 8: 36,266,539 (GRCm39) E1064G probably damaging Het
Gria4 T C 9: 4,503,588 (GRCm39) I343V probably benign Het
Grsf1 T A 5: 88,819,150 (GRCm39) N228Y probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Ighv1-18 A T 12: 114,646,381 (GRCm39) N74K probably benign Het
Kcnh6 A T 11: 105,914,703 (GRCm39) T703S probably benign Het
Lrp1b T A 2: 41,000,798 (GRCm39) D2256V Het
Lrrc63 T C 14: 75,360,447 (GRCm39) T352A possibly damaging Het
Lztfl1 T C 9: 123,531,194 (GRCm39) E258G probably damaging Het
Mcph1 T C 8: 18,721,122 (GRCm39) I650T possibly damaging Het
Mep1a T C 17: 43,788,997 (GRCm39) D606G possibly damaging Het
Muc16 T C 9: 18,516,578 (GRCm39) I313M Het
Myh7b A G 2: 155,462,356 (GRCm39) Y353C probably null Het
Nfatc1 A G 18: 80,725,504 (GRCm39) L420P probably damaging Het
Olfml1 A G 7: 107,170,392 (GRCm39) E93G probably damaging Het
Or6b1 A T 6: 42,814,938 (GRCm39) E41V probably damaging Het
Or8c11 A G 9: 38,289,357 (GRCm39) H54R probably benign Het
Pax1 A T 2: 147,208,034 (GRCm39) N214I probably damaging Het
Pcdhb17 C A 18: 37,619,801 (GRCm39) H530Q probably benign Het
Pcdhgb7 A T 18: 37,885,321 (GRCm39) M164L probably benign Het
Pcolce T C 5: 137,603,474 (GRCm39) N453S probably benign Het
Prr36 T C 8: 4,262,982 (GRCm39) T895A probably benign Het
Ptprq C T 10: 107,480,007 (GRCm39) V1088I probably benign Het
Rab5a T A 17: 53,807,485 (GRCm39) F174I probably damaging Het
Rapgef4 A G 2: 72,010,315 (GRCm39) D291G probably benign Het
Rbm25 A T 12: 83,721,864 (GRCm39) K683N possibly damaging Het
Rbpj T C 5: 53,803,240 (GRCm39) I156T probably damaging Het
Rgsl1 A G 1: 153,669,610 (GRCm39) S259P possibly damaging Het
Ryr3 A T 2: 112,690,110 (GRCm39) D1166E probably damaging Het
Sacs A G 14: 61,443,539 (GRCm39) K1862E possibly damaging Het
Scamp5 A G 9: 57,354,465 (GRCm39) I63T possibly damaging Het
Septin14 C T 5: 129,763,092 (GRCm39) A334T possibly damaging Het
Sh3rf2 A T 18: 42,289,201 (GRCm39) Q706L probably benign Het
Skap2 A T 6: 51,884,934 (GRCm39) H242Q probably benign Het
Spmap2l T C 5: 77,164,444 (GRCm39) I149T probably benign Het
Tfpt A G 7: 3,623,744 (GRCm39) probably null Het
Thg1l T G 11: 45,846,120 (GRCm39) D58A probably damaging Het
Thyn1 A G 9: 26,918,143 (GRCm39) E177G probably benign Het
Tmem151b C T 17: 45,856,724 (GRCm39) A239T probably damaging Het
Ttc21a T C 9: 119,788,095 (GRCm39) V840A probably benign Het
Usp32 A T 11: 84,968,153 (GRCm39) V170E probably damaging Het
Vmn2r29 A G 7: 7,234,864 (GRCm39) V674A probably benign Het
Vwa8 A G 14: 79,263,513 (GRCm39) N781S probably damaging Het
Zbtb7c C A 18: 76,270,433 (GRCm39) Q174K probably benign Het
Zeb1 T C 18: 5,766,917 (GRCm39) I476T probably benign Het
Zfp91 A T 19: 12,754,241 (GRCm39) D282E probably benign Het
Other mutations in Ring1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Ring1 APN 17 34,241,983 (GRCm39) missense possibly damaging 0.89
IGL01734:Ring1 APN 17 34,242,294 (GRCm39) missense probably damaging 1.00
IGL02420:Ring1 APN 17 34,242,122 (GRCm39) missense possibly damaging 0.67
R4711:Ring1 UTSW 17 34,241,333 (GRCm39) missense possibly damaging 0.72
R4762:Ring1 UTSW 17 34,240,971 (GRCm39) unclassified probably benign
R4770:Ring1 UTSW 17 34,242,361 (GRCm39) missense probably damaging 1.00
R4779:Ring1 UTSW 17 34,241,263 (GRCm39) unclassified probably benign
R4935:Ring1 UTSW 17 34,242,016 (GRCm39) missense probably benign 0.04
R5561:Ring1 UTSW 17 34,240,432 (GRCm39) missense possibly damaging 0.85
R5772:Ring1 UTSW 17 34,241,282 (GRCm39) missense possibly damaging 0.96
R6235:Ring1 UTSW 17 34,242,280 (GRCm39) missense probably damaging 0.98
R7060:Ring1 UTSW 17 34,242,364 (GRCm39) missense probably damaging 1.00
R7115:Ring1 UTSW 17 34,242,420 (GRCm39) missense probably damaging 0.97
R7363:Ring1 UTSW 17 34,243,336 (GRCm39) missense possibly damaging 0.68
R7380:Ring1 UTSW 17 34,240,694 (GRCm39) missense probably damaging 0.98
R7556:Ring1 UTSW 17 34,240,688 (GRCm39) missense possibly damaging 0.52
R9289:Ring1 UTSW 17 34,241,547 (GRCm39) missense possibly damaging 0.73
R9716:Ring1 UTSW 17 34,240,420 (GRCm39) missense possibly damaging 0.85
Z1177:Ring1 UTSW 17 34,240,752 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTAACAAGGTCTCTGGTTCTCC -3'
(R):5'- ACCAAGGAGTGCCTGCATAG -3'

Sequencing Primer
(F):5'- TCCACACCTGTGCATGGC -3'
(R):5'- ATAGGTTCTGCTCGGACTGCATC -3'
Posted On 2019-11-12