Incidental Mutation 'R7013:Rnf212'
ID 545121
Institutional Source Beutler Lab
Gene Symbol Rnf212
Ensembl Gene ENSMUSG00000055385
Gene Name ring finger protein 212
Synonyms EG330157, repro57
MMRRC Submission 045114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R7013 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 108877156-108922848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108877826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 222 (M222K)
Ref Sequence ENSEMBL: ENSMUSP00000148758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068946] [ENSMUST00000196652] [ENSMUST00000197384] [ENSMUST00000200159] [ENSMUST00000212176] [ENSMUST00000212212]
AlphaFold F6TQD1
Predicted Effect probably benign
Transcript: ENSMUST00000068946
Predicted Effect probably benign
Transcript: ENSMUST00000196652
Predicted Effect probably benign
Transcript: ENSMUST00000197384
AA Change: M101K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000200159
AA Change: M50K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000212176
Predicted Effect probably benign
Transcript: ENSMUST00000212212
AA Change: M222K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal male meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,618,345 (GRCm39) I213V probably null Het
Abcc4 A T 14: 118,763,755 (GRCm39) C952S probably benign Het
Adhfe1 T C 1: 9,620,816 (GRCm39) probably benign Het
Apob T A 12: 8,060,080 (GRCm39) L2854* probably null Het
Arhgap5 T A 12: 52,565,109 (GRCm39) N693K probably benign Het
Arid5b A G 10: 67,933,649 (GRCm39) V508A probably damaging Het
Atl1 A G 12: 70,000,214 (GRCm39) E288G probably damaging Het
Bank1 A G 3: 135,806,270 (GRCm39) S455P possibly damaging Het
Ces1c A T 8: 93,857,392 (GRCm39) L63Q probably damaging Het
Crmp1 A T 5: 37,426,036 (GRCm39) probably null Het
Csnka2ip T C 16: 64,298,780 (GRCm39) D528G unknown Het
Dact2 T C 17: 14,423,796 (GRCm39) T66A probably benign Het
Dkk2 T C 3: 131,880,760 (GRCm39) L135P probably damaging Het
Drc3 A G 11: 60,278,129 (GRCm39) N381S probably benign Het
Dsg4 T C 18: 20,591,578 (GRCm39) V439A possibly damaging Het
Dysf C T 6: 84,114,340 (GRCm39) P1240S probably damaging Het
Esyt1 A T 10: 128,361,520 (GRCm39) V58E probably damaging Het
Exo1 G T 1: 175,721,338 (GRCm39) A326S probably damaging Het
Fam20b A G 1: 156,518,135 (GRCm39) S220P probably damaging Het
Fmo6 G A 1: 162,745,817 (GRCm39) T402I probably benign Het
Galnt10 A T 11: 57,656,410 (GRCm39) D198V probably benign Het
Gsap A T 5: 21,483,108 (GRCm39) E604D probably benign Het
Il20rb A G 9: 100,343,481 (GRCm39) Y258H probably benign Het
Impg1 A T 9: 80,285,776 (GRCm39) S409R probably damaging Het
Jak3 G T 8: 72,131,425 (GRCm39) V97F possibly damaging Het
Lbhd1 T C 19: 8,861,523 (GRCm39) S52P probably damaging Het
Lman2l A G 1: 36,482,599 (GRCm39) probably benign Het
Lnpep C A 17: 17,788,625 (GRCm39) M493I probably benign Het
Mpp4 T C 1: 59,188,774 (GRCm39) D132G probably damaging Het
Nlrp1a G A 11: 71,014,378 (GRCm39) R291W probably benign Het
Or1e23 G T 11: 73,407,247 (GRCm39) Y259* probably null Het
Or4a79 T A 2: 89,551,730 (GRCm39) I242F probably benign Het
Or4b13 C T 2: 90,082,441 (GRCm39) R297Q possibly damaging Het
Or4f15 G A 2: 111,814,308 (GRCm39) A37V probably benign Het
Or4n4b T A 14: 50,536,656 (GRCm39) I37F probably damaging Het
Orc5 A G 5: 22,738,787 (GRCm39) V158A probably benign Het
Pate8 C A 9: 36,493,854 (GRCm39) W26C unknown Het
Pcdhga3 A G 18: 37,808,674 (GRCm39) N376D probably damaging Het
Ptprr T A 10: 116,072,659 (GRCm39) I207N probably damaging Het
Recql5 A G 11: 115,785,402 (GRCm39) V698A probably benign Het
Rsph6a A G 7: 18,788,820 (GRCm39) S51G probably benign Het
Smap2 T C 4: 120,839,365 (GRCm39) K121E probably damaging Het
Syt11 A T 3: 88,655,296 (GRCm39) V335D possibly damaging Het
Terb1 A T 8: 105,215,222 (GRCm39) C251* probably null Het
Tmprss11d C A 5: 86,474,432 (GRCm39) R37L probably damaging Het
Ttbk2 T C 2: 120,576,265 (GRCm39) N904S possibly damaging Het
Vmn1r119 T A 7: 20,745,714 (GRCm39) I223F probably damaging Het
Vmn1r66 T C 7: 10,008,683 (GRCm39) R117G possibly damaging Het
Zfp106 T C 2: 120,362,113 (GRCm39) D1025G probably damaging Het
Other mutations in Rnf212
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Rnf212 APN 5 108,895,306 (GRCm39) missense possibly damaging 0.82
IGL02213:Rnf212 APN 5 108,895,276 (GRCm39) splice site probably benign
R0054:Rnf212 UTSW 5 108,893,530 (GRCm39) missense possibly damaging 0.86
R0054:Rnf212 UTSW 5 108,893,530 (GRCm39) missense possibly damaging 0.86
R0514:Rnf212 UTSW 5 108,897,308 (GRCm39) missense probably damaging 1.00
R4828:Rnf212 UTSW 5 108,877,334 (GRCm39) missense probably damaging 0.99
R7422:Rnf212 UTSW 5 108,879,555 (GRCm39) missense probably benign
R9188:Rnf212 UTSW 5 108,922,811 (GRCm39) nonsense probably null
R9337:Rnf212 UTSW 5 108,922,755 (GRCm39) missense possibly damaging 0.74
R9701:Rnf212 UTSW 5 108,922,738 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCATATGTGCACTTTTCTGAGCG -3'
(R):5'- TGACTGGTCCTGTTCACCAC -3'

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