Incidental Mutation 'R0514:Rnf212'
ID 48093
Institutional Source Beutler Lab
Gene Symbol Rnf212
Ensembl Gene ENSMUSG00000055385
Gene Name ring finger protein 212
Synonyms EG330157, repro57
MMRRC Submission 038708-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R0514 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 108877156-108922848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108897308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 3 (S3T)
Ref Sequence ENSEMBL: ENSMUSP00000142368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068946] [ENSMUST00000196652] [ENSMUST00000197384] [ENSMUST00000200159] [ENSMUST00000212176] [ENSMUST00000212212]
AlphaFold F6TQD1
Predicted Effect probably benign
Transcript: ENSMUST00000068946
AA Change: S3T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000196652
AA Change: S3T

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000197384
AA Change: S3T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000200159
Predicted Effect probably benign
Transcript: ENSMUST00000212176
Predicted Effect possibly damaging
Transcript: ENSMUST00000212212
AA Change: S124T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,197,177 (GRCm39) Y154F probably damaging Het
Acsl6 A T 11: 54,241,406 (GRCm39) D579V probably damaging Het
Adamts18 C T 8: 114,465,401 (GRCm39) probably null Het
Adamts20 A T 15: 94,168,257 (GRCm39) V1882D probably damaging Het
Add3 A T 19: 53,225,274 (GRCm39) K465* probably null Het
Ago1 T G 4: 126,333,388 (GRCm39) I524L probably benign Het
Akr1c18 A G 13: 4,187,190 (GRCm39) M208T probably benign Het
Anapc1 C A 2: 128,474,575 (GRCm39) L1413F probably damaging Het
Arid4b A T 13: 14,358,902 (GRCm39) D646V probably damaging Het
Arnt2 T C 7: 83,954,067 (GRCm39) E261G probably benign Het
Bccip C T 7: 133,320,859 (GRCm39) T211I possibly damaging Het
Bsn T C 9: 108,002,981 (GRCm39) S475G probably benign Het
Cdh26 G A 2: 178,108,621 (GRCm39) probably null Het
Ceacam2 A G 7: 25,220,356 (GRCm39) F414S probably benign Het
Cep43 A G 17: 8,410,266 (GRCm39) N342S possibly damaging Het
Cfb T C 17: 35,079,874 (GRCm39) R172G probably damaging Het
Cntnap5b A C 1: 99,700,511 (GRCm39) T8P probably benign Het
Cpne9 A T 6: 113,266,974 (GRCm39) I136L probably damaging Het
Crtc1 A T 8: 70,855,079 (GRCm39) probably null Het
Dcdc2a A T 13: 25,303,369 (GRCm39) H300L probably benign Het
Dhdh C T 7: 45,138,130 (GRCm39) V20M probably benign Het
Dhx34 T C 7: 15,944,462 (GRCm39) Q584R probably benign Het
Dis3l2 A G 1: 86,974,814 (GRCm39) Y701C probably damaging Het
Dmrt2 T C 19: 25,653,019 (GRCm39) probably null Het
Dnah5 A G 15: 28,366,467 (GRCm39) T2727A probably damaging Het
Dop1a A G 9: 86,402,787 (GRCm39) E1329G probably damaging Het
Evpl A G 11: 116,114,117 (GRCm39) V1191A probably damaging Het
Fhl4 T C 10: 84,934,250 (GRCm39) D177G probably damaging Het
Gask1a A G 9: 121,807,418 (GRCm39) T521A possibly damaging Het
Heg1 A G 16: 33,547,126 (GRCm39) T662A possibly damaging Het
Ifih1 A G 2: 62,453,735 (GRCm39) probably null Het
Il13 T C 11: 53,523,345 (GRCm39) R87G possibly damaging Het
Kcnc3 T A 7: 44,245,352 (GRCm39) Y547* probably null Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama1 G A 17: 68,071,693 (GRCm39) G860D probably benign Het
Lmo7 T C 14: 102,124,609 (GRCm39) L356P probably damaging Het
Lmo7 A T 14: 102,133,995 (GRCm39) K447I probably damaging Het
Lrp2bp A G 8: 46,464,995 (GRCm39) H38R probably damaging Het
Magi3 G A 3: 103,922,338 (GRCm39) P1460S probably damaging Het
Megf8 T A 7: 25,063,728 (GRCm39) C2695S possibly damaging Het
Mrgprb2 T G 7: 48,201,718 (GRCm39) S336R probably benign Het
Mrgprx2 C T 7: 48,132,712 (GRCm39) M1I probably null Het
Mug2 T C 6: 122,058,558 (GRCm39) L1320P probably damaging Het
Noxred1 A G 12: 87,273,838 (GRCm39) S68P probably benign Het
Or51f5 T A 7: 102,424,539 (GRCm39) H269Q probably benign Het
Or56b1b T A 7: 108,164,879 (GRCm39) Y41F probably damaging Het
Os9 C T 10: 126,955,508 (GRCm39) C123Y probably damaging Het
Ostf1 T A 19: 18,573,723 (GRCm39) T42S probably benign Het
Parg C A 14: 31,976,517 (GRCm39) T186K possibly damaging Het
Pcnx1 T A 12: 82,041,884 (GRCm39) M2172K probably benign Het
Pip4k2a A G 2: 18,850,747 (GRCm39) I360T probably damaging Het
Pkn2 T C 3: 142,516,219 (GRCm39) D568G possibly damaging Het
Plch2 A G 4: 155,083,343 (GRCm39) S431P probably damaging Het
Prl8a6 A T 13: 27,616,990 (GRCm39) C233* probably null Het
Prox1 G A 1: 189,893,653 (GRCm39) T264I probably damaging Het
Prr5 A G 15: 84,586,967 (GRCm39) N248S probably benign Het
Psip1 A C 4: 83,378,274 (GRCm39) S407R probably damaging Het
Rab32 A T 10: 10,426,640 (GRCm39) V102E probably damaging Het
Rap1gap2 T G 11: 74,279,680 (GRCm39) K687Q possibly damaging Het
Rbak A T 5: 143,159,169 (GRCm39) V628E probably damaging Het
Rnf148 T C 6: 23,654,792 (GRCm39) E68G possibly damaging Het
Rrad T G 8: 105,355,259 (GRCm39) I250L probably benign Het
Sall4 T C 2: 168,597,625 (GRCm39) H405R probably damaging Het
Scn9a T C 2: 66,314,022 (GRCm39) R1888G probably damaging Het
Setd5 G T 6: 113,096,398 (GRCm39) E535* probably null Het
Slc20a1 C T 2: 129,041,811 (GRCm39) S58L probably damaging Het
Slc31a1 A G 4: 62,303,841 (GRCm39) probably benign Het
Slc38a11 G T 2: 65,147,209 (GRCm39) Q423K probably benign Het
Snrpd1 A T 18: 10,626,846 (GRCm39) T38S possibly damaging Het
Taar4 A G 10: 23,836,780 (GRCm39) D130G probably damaging Het
Tfb2m C T 1: 179,358,869 (GRCm39) R338H probably benign Het
Tm2d2 A G 8: 25,512,742 (GRCm39) I197V possibly damaging Het
Tmem132a C T 19: 10,836,355 (GRCm39) G725D probably damaging Het
Tmem67 T C 4: 12,089,317 (GRCm39) T38A probably benign Het
Tmprss15 A T 16: 78,765,155 (GRCm39) S816T probably benign Het
Tnfrsf11a A G 1: 105,754,717 (GRCm39) E263G probably damaging Het
Tnfrsf17 C T 16: 11,133,191 (GRCm39) L90F probably benign Het
Tpr A G 1: 150,278,024 (GRCm39) K117E possibly damaging Het
Trim43a C T 9: 88,466,389 (GRCm39) Q5* probably null Het
Ubn1 A T 16: 4,890,935 (GRCm39) D498V probably damaging Het
Vipr1 T A 9: 121,487,115 (GRCm39) C63S probably damaging Het
Vmn1r237 T A 17: 21,534,932 (GRCm39) H218Q possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r95 T C 17: 18,671,844 (GRCm39) V527A probably benign Het
Vmn2r97 A T 17: 19,134,734 (GRCm39) T51S probably benign Het
Vwa8 G A 14: 79,184,629 (GRCm39) V376I probably benign Het
Wdfy4 T A 14: 32,802,732 (GRCm39) T1838S probably benign Het
Zcwpw1 A T 5: 137,794,945 (GRCm39) E47V probably benign Het
Zeb2 T C 2: 44,892,659 (GRCm39) E130G possibly damaging Het
Zfp111 A G 7: 23,898,568 (GRCm39) Y348H probably damaging Het
Zfp53 T C 17: 21,729,271 (GRCm39) S435P 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
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
Predicted Primers PCR Primer
(F):5'- GGACATGCAATGAACTACCAGGCAC -3'
(R):5'- GAAACTCAGGGCTTGCTTTGCTG -3'

Sequencing Primer
(F):5'- CACATACCTGTCAGGGAGTG -3'
(R):5'- TATAGTTGTGACCAGAAGTGCC -3'
Posted On 2013-06-12