Incidental Mutation 'IGL02104:Rnf212'
ID 279904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf212
Ensembl Gene ENSMUSG00000055385
Gene Name ring finger protein 212
Synonyms EG330157, repro57
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02104
Quality Score
Status
Chromosome 5
Chromosomal Location 108877156-108922848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108895306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 41 (I41T)
Ref Sequence ENSEMBL: ENSMUSP00000142368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068946] [ENSMUST00000196652] [ENSMUST00000197384] [ENSMUST00000200159] [ENSMUST00000212176] [ENSMUST00000212212]
AlphaFold F6TQD1
Predicted Effect possibly damaging
Transcript: ENSMUST00000068946
AA Change: I41T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000196652
AA Change: I41T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000197384
AA Change: I41T

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000200159
Predicted Effect probably benign
Transcript: ENSMUST00000212176
Predicted Effect possibly damaging
Transcript: ENSMUST00000212212
AA Change: I162T

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,904,415 (GRCm39) Q125L probably damaging Het
Acap3 G A 4: 155,989,542 (GRCm39) R662H probably damaging Het
Aox4 T A 1: 58,275,816 (GRCm39) probably benign Het
Aqp6 T C 15: 99,502,159 (GRCm39) S285P probably benign Het
Arhgef5 A T 6: 43,249,345 (GRCm39) Q32L probably damaging Het
B3gnt6 G T 7: 97,843,308 (GRCm39) D217E probably damaging Het
Cfap251 T A 5: 123,440,761 (GRCm39) L1106* probably null Het
Chd6 T C 2: 160,819,432 (GRCm39) I1338V probably benign Het
Clic6 A G 16: 92,295,367 (GRCm39) E9G possibly damaging Het
Col11a1 T A 3: 113,975,046 (GRCm39) probably null Het
Dcdc2b T A 4: 129,504,867 (GRCm39) D88V probably benign Het
Dis3l T A 9: 64,217,611 (GRCm39) K791N possibly damaging Het
Dmxl2 A T 9: 54,311,299 (GRCm39) Y1008* probably null Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Efl1 A G 7: 82,307,263 (GRCm39) probably null Het
Fam117b C T 1: 59,988,278 (GRCm39) T219I probably benign Het
Fgf21 T A 7: 45,264,648 (GRCm39) Q28L probably benign Het
Folh1 T C 7: 86,393,638 (GRCm39) Q391R possibly damaging Het
Gars1 A G 6: 55,054,682 (GRCm39) D663G probably damaging Het
Lats2 A G 14: 57,971,469 (GRCm39) F69L probably damaging Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Map3k1 A T 13: 111,892,777 (GRCm39) V826E probably damaging Het
Mapkap1 T A 2: 34,513,482 (GRCm39) Y497* probably null Het
Mast3 T C 8: 71,240,550 (GRCm39) I296V possibly damaging Het
Mon1a T G 9: 107,778,814 (GRCm39) L346R probably damaging Het
Mphosph8 T C 14: 56,912,036 (GRCm39) L353S probably benign Het
Muc5ac T C 7: 141,364,815 (GRCm39) Y2634H probably damaging Het
Mylk A G 16: 34,635,805 (GRCm39) T9A probably benign Het
Or10j2 T C 1: 173,098,603 (GRCm39) V287A probably damaging Het
Or14j8 A C 17: 38,263,182 (GRCm39) H244Q probably damaging Het
Or55b3 C A 7: 102,126,544 (GRCm39) V178F probably damaging Het
Or5an6 T A 19: 12,372,263 (GRCm39) V212D probably damaging Het
Or5b122 T A 19: 13,562,968 (GRCm39) M57K probably damaging Het
Or5m8 G T 2: 85,822,730 (GRCm39) D190Y probably damaging Het
Or7g25 A T 9: 19,160,166 (GRCm39) H176Q probably benign Het
Pabpc2 A C 18: 39,907,936 (GRCm39) Q400H possibly damaging Het
Pigg A G 5: 108,489,963 (GRCm39) Y856C probably damaging Het
Plekhn1 A T 4: 156,306,865 (GRCm39) V508E probably benign Het
Pom121l2 C A 13: 22,166,445 (GRCm39) H239N possibly damaging Het
Prdm2 A G 4: 142,859,997 (GRCm39) S1098P probably benign Het
Rngtt A G 4: 33,320,517 (GRCm39) probably null Het
Rpn2 C T 2: 157,163,747 (GRCm39) T613M probably damaging Het
Scd4 G T 19: 44,333,186 (GRCm39) V304F possibly damaging Het
Sez6l A G 5: 112,574,630 (GRCm39) probably benign Het
Shroom3 A G 5: 93,088,248 (GRCm39) R158G probably benign Het
Stil T C 4: 114,898,679 (GRCm39) L1103P probably damaging Het
Tanc2 T C 11: 105,670,959 (GRCm39) probably benign Het
Tmc1 C T 19: 20,809,818 (GRCm39) D255N probably benign Het
Trank1 C A 9: 111,219,780 (GRCm39) D2172E possibly damaging Het
Tyro3 G A 2: 119,643,681 (GRCm39) R718H probably damaging Het
Vamp2 C A 11: 68,981,483 (GRCm39) F114L probably benign Het
Other mutations in Rnf212
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7013:Rnf212 UTSW 5 108,877,826 (GRCm39) missense probably benign 0.00
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
Posted On 2015-04-16