Incidental Mutation 'R5502:Rnf121'
ID 430671
Institutional Source Beutler Lab
Gene Symbol Rnf121
Ensembl Gene ENSMUSG00000070426
Gene Name ring finger protein 121
Synonyms 4930544L10Rik
MMRRC Submission 043063-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.623) question?
Stock # R5502 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101668344-101714676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101672555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 276 (K276R)
Ref Sequence ENSEMBL: ENSMUSP00000094396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089052] [ENSMUST00000096639] [ENSMUST00000106953] [ENSMUST00000209368]
AlphaFold Q8R1Z9
Predicted Effect probably null
Transcript: ENSMUST00000089052
AA Change: K253R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086453
Gene: ENSMUSG00000070426
AA Change: K253R

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
AA Change: K276R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094396
Gene: ENSMUSG00000070426
AA Change: K276R

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
AA Change: K259R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102566
Gene: ENSMUSG00000070426
AA Change: K259R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149976
Predicted Effect probably null
Transcript: ENSMUST00000209368
Meta Mutation Damage Score 0.4505 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.0%
  • 20x: 90.2%
Validation Efficiency 98% (84/86)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abcc8 A G 7: 45,758,262 (GRCm39) I1268T probably benign Het
Accsl C T 2: 93,687,289 (GRCm39) probably null Het
Actmap A G 7: 26,896,542 (GRCm39) D35G possibly damaging Het
Ank3 A T 10: 69,756,291 (GRCm39) I842F probably benign Het
Bbs9 T A 9: 22,415,370 (GRCm39) L98Q probably damaging Het
Bin2 A G 15: 100,543,286 (GRCm39) V299A probably benign Het
Cabp4 G A 19: 4,181,228 (GRCm39) probably benign Het
Ces2f A T 8: 105,679,155 (GRCm39) H324L possibly damaging Het
Chd4 G A 6: 125,082,239 (GRCm39) R576Q possibly damaging Het
Cndp1 A G 18: 84,650,138 (GRCm39) V185A possibly damaging Het
Cntn3 A C 6: 102,242,295 (GRCm39) V450G possibly damaging Het
Col5a2 C A 1: 45,419,286 (GRCm39) G1265W probably damaging Het
Corin G A 5: 72,473,449 (GRCm39) Q754* probably null Het
Cyp4a10 A G 4: 115,382,702 (GRCm39) N291S probably benign Het
Dap3 T C 3: 88,832,633 (GRCm39) Y353C probably damaging Het
Disp1 A G 1: 182,869,450 (GRCm39) V990A probably damaging Het
Dock9 A T 14: 121,847,594 (GRCm39) probably null Het
Dop1b T A 16: 93,590,114 (GRCm39) V179E probably benign Het
Eps15l1 A T 8: 73,132,836 (GRCm39) probably null Het
Fyb2 A T 4: 104,802,521 (GRCm39) Q141L probably damaging Het
Gemin4 A T 11: 76,104,227 (GRCm39) L178* probably null Het
Gm15446 A T 5: 110,088,364 (GRCm39) K25* probably null Het
Gm17067 A T 7: 42,357,843 (GRCm39) C220S probably damaging Het
Gm4868 A G 5: 125,925,042 (GRCm39) noncoding transcript Het
Golga4 GT GTT 9: 118,388,125 (GRCm39) probably null Het
Gria2 T C 3: 80,614,252 (GRCm39) N596S probably damaging Het
Hoxb4 A G 11: 96,211,057 (GRCm39) D219G probably damaging Het
Htr1b T A 9: 81,513,854 (GRCm39) Q251L possibly damaging Het
Ibtk A C 9: 85,602,916 (GRCm39) S696R probably benign Het
Ide C A 19: 37,307,855 (GRCm39) K52N unknown Het
Incenp C A 19: 9,870,728 (GRCm39) L300F unknown Het
Ino80 T C 2: 119,232,877 (GRCm39) Y1147C probably damaging Het
Mme T A 3: 63,207,702 (GRCm39) Y49* probably null Het
Mmp15 A T 8: 96,094,812 (GRCm39) T229S possibly damaging Het
Mtmr4 A T 11: 87,504,904 (GRCm39) N1133I probably damaging Het
Mycbp2 C T 14: 103,411,250 (GRCm39) G284R probably damaging Het
Myo3a T C 2: 22,448,381 (GRCm39) I52T probably damaging Het
Nat8f5 G T 6: 85,794,635 (GRCm39) F108L probably damaging Het
Nbeal1 T A 1: 60,350,158 (GRCm39) H2402Q probably damaging Het
Nexn T A 3: 151,943,941 (GRCm39) E331D probably damaging Het
Nktr C T 9: 121,577,672 (GRCm39) probably benign Het
Oaz3 T C 3: 94,342,392 (GRCm39) D88G probably damaging Het
Or1n1 T C 2: 36,750,282 (GRCm39) Y26C probably damaging Het
Or4l1 A G 14: 50,166,993 (GRCm39) Y3H probably benign Het
Pcdhb9 A T 18: 37,534,656 (GRCm39) T217S possibly damaging Het
Pcdhga2 A T 18: 37,803,605 (GRCm39) D483V possibly damaging Het
Pde5a G T 3: 122,596,681 (GRCm39) G456V probably damaging Het
Qser1 T C 2: 104,616,919 (GRCm39) T1298A probably benign Het
Rapgef5 T C 12: 117,685,064 (GRCm39) V303A probably damaging Het
Rbbp6 T G 7: 122,587,947 (GRCm39) M267R probably damaging Het
Rfx8 C A 1: 39,722,113 (GRCm39) V291F probably damaging Het
Rtca G T 3: 116,282,931 (GRCm39) Y352* probably null Het
Rusf1 C T 7: 127,884,308 (GRCm39) V225M probably damaging Het
Sacs T C 14: 61,443,549 (GRCm39) V1865A probably damaging Het
Sclt1 C T 3: 41,611,710 (GRCm39) E521K probably benign Het
Setd1a T C 7: 127,396,420 (GRCm39) probably null Het
Slc37a4 G T 9: 44,313,394 (GRCm39) V337L probably benign Het
Slc5a9 G T 4: 111,750,366 (GRCm39) S79* probably null Het
Snrpd2 T C 7: 18,885,247 (GRCm39) V36A probably benign Het
Spata31d1b A T 13: 59,864,486 (GRCm39) N545Y probably damaging Het
Sstr4 CGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 2: 148,237,471 (GRCm39) probably benign Het
St7 G A 6: 17,834,673 (GRCm39) V98I possibly damaging Het
Strip2 A T 6: 29,927,623 (GRCm39) I223F probably benign Het
Syn2 A C 6: 115,255,313 (GRCm39) N542H possibly damaging Het
Tbc1d2b T C 9: 90,109,496 (GRCm39) T327A probably benign Het
Timm44 A T 8: 4,319,992 (GRCm39) F59I possibly damaging Het
Tmem41b A T 7: 109,581,970 (GRCm39) C44* probably null Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,105,278 (GRCm39) probably benign Het
Tusc3 A T 8: 39,597,947 (GRCm39) K188* probably null Het
Usp39 T A 6: 72,305,670 (GRCm39) Q371L probably benign Het
Vmn2r13 G T 5: 109,321,580 (GRCm39) N372K probably damaging Het
Zfp961 T A 8: 72,721,903 (GRCm39) Y139N 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
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
R6975:Rnf121 UTSW 7 101,673,218 (GRCm39) critical splice donor site probably null
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'- ACATGACAAGTGGCAGTGGC -3'
(R):5'- CCACATTGGGTATTGGGTATTCTC -3'

Sequencing Primer
(F):5'- GCTGCTTCCACTAGCGATTTAGG -3'
(R):5'- TGTAAATAAGGATCACTGCCCTC -3'
Posted On 2016-10-05