Incidental Mutation 'R6975:Rnf121'
ID 542418
Institutional Source Beutler Lab
Gene Symbol Rnf121
Ensembl Gene ENSMUSG00000070426
Gene Name ring finger protein 121
Synonyms 4930544L10Rik
MMRRC Submission 045085-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.623) question?
Stock # R6975 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101668344-101714676 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 101673218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089052] [ENSMUST00000096639] [ENSMUST00000106953]
AlphaFold Q8R1Z9
Predicted Effect probably null
Transcript: ENSMUST00000089052
SMART Domains Protein: ENSMUSP00000086453
Gene: ENSMUSG00000070426

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
transmembrane domain 56 73 N/A INTRINSIC
transmembrane domain 78 97 N/A INTRINSIC
transmembrane domain 117 139 N/A INTRINSIC
transmembrane domain 152 169 N/A INTRINSIC
RING 203 252 9.83e-4 SMART
transmembrane domain 279 301 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000096639
SMART Domains Protein: ENSMUSP00000094396
Gene: ENSMUSG00000070426

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 79 96 N/A INTRINSIC
transmembrane domain 101 120 N/A INTRINSIC
transmembrane domain 140 162 N/A INTRINSIC
transmembrane domain 175 192 N/A INTRINSIC
RING 226 275 9.83e-4 SMART
transmembrane domain 302 324 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106953
SMART Domains Protein: ENSMUSP00000102566
Gene: ENSMUSG00000070426

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 62 79 N/A INTRINSIC
transmembrane domain 84 103 N/A INTRINSIC
transmembrane domain 123 145 N/A INTRINSIC
transmembrane domain 158 175 N/A INTRINSIC
RING 209 258 9.83e-4 SMART
transmembrane domain 285 307 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this gene, however, not all are likely to encode viable protein products. [provided by RefSeq, Sep 2008]
Allele List at MGI

All alleles(13) : Gene trapped(13)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,687 (GRCm39) H100L probably benign Het
Apaf1 A T 10: 90,856,596 (GRCm39) H870Q probably damaging Het
Aplf T C 6: 87,623,068 (GRCm39) D358G probably damaging Het
Atp10a A T 7: 58,423,733 (GRCm39) S233C probably damaging Het
Ccdc158 A T 5: 92,814,579 (GRCm39) Y82* probably null Het
Clba1 C T 12: 112,773,217 (GRCm39) P70L possibly damaging Het
Cubn T C 2: 13,491,600 (GRCm39) D149G probably damaging Het
Cyp4f14 T C 17: 33,133,608 (GRCm39) T83A probably benign Het
Endog A G 2: 30,061,648 (GRCm39) probably benign Het
Extl3 T C 14: 65,304,246 (GRCm39) E721G probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcn1 A G 5: 115,751,518 (GRCm39) H2033R probably damaging Het
Gm12830 T C 4: 114,702,246 (GRCm39) M136T Het
Gm6871 T C 7: 41,196,202 (GRCm39) silent Het
Hoxc4 T C 15: 102,944,098 (GRCm39) S159P probably damaging Het
Ift70a2 T C 2: 75,806,752 (GRCm39) R587G probably damaging Het
Ift70a2 A T 2: 75,808,004 (GRCm39) Y169* probably null Het
Igf2bp2 T A 16: 21,880,611 (GRCm39) Q494L probably null Het
Igfn1 T A 1: 135,896,183 (GRCm39) N1461I probably damaging Het
Il23r C A 6: 67,400,352 (GRCm39) K659N probably damaging Het
Map3k11 A G 19: 5,740,755 (GRCm39) S161G possibly damaging Het
Naip6 T A 13: 100,452,773 (GRCm39) Q96L probably damaging Het
Nup133 T C 8: 124,642,057 (GRCm39) E802G probably damaging Het
Nutm1 G A 2: 112,086,563 (GRCm39) S56F probably damaging Het
Or10x4 T A 1: 174,219,243 (GRCm39) S203T probably benign Het
Or51a24 T C 7: 103,734,002 (GRCm39) N95S probably benign Het
Otop2 A T 11: 115,220,152 (GRCm39) S331C possibly damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pkd1l3 A G 8: 110,387,539 (GRCm39) R1818G possibly damaging Het
Pms1 A T 1: 53,228,590 (GRCm39) I886N probably damaging Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Ppp3ca A G 3: 136,611,062 (GRCm39) T362A probably damaging Het
Rarb A G 14: 16,574,942 (GRCm38) S25P possibly damaging Het
Sae1 T C 7: 16,070,712 (GRCm39) Y266C probably damaging Het
Scpep1 A T 11: 88,838,031 (GRCm39) F85L probably damaging Het
Shank1 T A 7: 43,962,530 (GRCm39) probably null Het
Slc40a1 T C 1: 45,948,652 (GRCm39) K543E probably benign Het
Slc9a9 A G 9: 94,842,499 (GRCm39) Y350C probably damaging Het
Sun2 G T 15: 79,618,420 (GRCm39) Y246* probably null Het
Tas1r2 T A 4: 139,397,031 (GRCm39) I790N probably damaging Het
Tmtc2 T C 10: 105,158,863 (GRCm39) T577A probably benign Het
Trim24 T G 6: 37,896,427 (GRCm39) probably null Het
Ttc12 A G 9: 49,349,718 (GRCm39) V693A probably benign Het
Zbtb22 A C 17: 34,136,938 (GRCm39) D361A probably damaging Het
Zfp276 T A 8: 123,983,570 (GRCm39) C324* probably null Het
Zfp536 A G 7: 37,267,952 (GRCm39) L488P probably damaging Het
Other mutations in Rnf121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Rnf121 APN 7 101,714,322 (GRCm39) unclassified probably benign
IGL01651:Rnf121 APN 7 101,691,862 (GRCm39) missense probably damaging 0.99
3-1:Rnf121 UTSW 7 101,688,792 (GRCm39) missense probably damaging 1.00
R0295:Rnf121 UTSW 7 101,684,553 (GRCm39) missense possibly damaging 0.80
R0385:Rnf121 UTSW 7 101,678,324 (GRCm39) missense possibly damaging 0.79
R1464:Rnf121 UTSW 7 101,680,782 (GRCm39) missense possibly damaging 0.74
R1464:Rnf121 UTSW 7 101,680,782 (GRCm39) missense possibly damaging 0.74
R3762:Rnf121 UTSW 7 101,673,244 (GRCm39) missense probably damaging 1.00
R4369:Rnf121 UTSW 7 101,673,313 (GRCm39) missense probably benign 0.00
R4852:Rnf121 UTSW 7 101,672,592 (GRCm39) missense probably damaging 1.00
R5502:Rnf121 UTSW 7 101,672,555 (GRCm39) missense probably null 0.99
R5784:Rnf121 UTSW 7 101,684,583 (GRCm39) missense probably benign 0.00
R6767:Rnf121 UTSW 7 101,672,619 (GRCm39) missense probably damaging 1.00
R8263:Rnf121 UTSW 7 101,684,532 (GRCm39) missense probably damaging 1.00
R8747:Rnf121 UTSW 7 101,678,316 (GRCm39) missense probably damaging 1.00
R8785:Rnf121 UTSW 7 101,678,333 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTTTCTATGGCCTGGCAGTCC -3'
(R):5'- GTATCTTCCTAGGGAGACAGATGC -3'

Sequencing Primer
(F):5'- TATGGCCTGGCAGTCCATAAC -3'
(R):5'- GAGACAGATGCTCACAGGTTTTC -3'
Posted On 2018-11-28