Incidental Mutation 'R3762:Rnf121'
ID 270558
Institutional Source Beutler Lab
Gene Symbol Rnf121
Ensembl Gene ENSMUSG00000070426
Gene Name ring finger protein 121
Synonyms 4930544L10Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.623) question?
Stock # R3762 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 101668344-101714676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101673244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 223 (T223M)
Ref Sequence ENSEMBL: ENSMUSP00000086453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089052] [ENSMUST00000096639] [ENSMUST00000106953]
AlphaFold Q8R1Z9
Predicted Effect probably damaging
Transcript: ENSMUST00000089052
AA Change: T223M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086453
Gene: ENSMUSG00000070426
AA Change: T223M

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 damaging
Transcript: ENSMUST00000096639
AA Change: T246M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000094396
Gene: ENSMUSG00000070426
AA Change: T246M

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 damaging
Transcript: ENSMUST00000106953
AA Change: T229M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102566
Gene: ENSMUSG00000070426
AA Change: T229M

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 probably benign
Transcript: ENSMUST00000131104
SMART Domains Protein: ENSMUSP00000123134
Gene: ENSMUSG00000070426

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
transmembrane domain 76 93 N/A INTRINSIC
transmembrane domain 98 117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149976
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A T 7: 16,299,000 (GRCm39) S22T probably damaging Het
Atp2b1 T C 10: 98,845,351 (GRCm39) I718T probably damaging Het
Cad T A 5: 31,232,890 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Defa41 C T 8: 21,691,753 (GRCm39) S45F probably damaging Het
Dhx15 G A 5: 52,324,074 (GRCm39) P406L probably benign Het
Dnah17 T A 11: 117,995,352 (GRCm39) M999L probably benign Het
Dpysl4 A G 7: 138,676,672 (GRCm39) E374G probably damaging Het
Gatad2a T C 8: 70,368,930 (GRCm39) probably null Het
Gm826 C A 2: 160,155,423 (GRCm39) probably benign Het
H2-M10.1 T A 17: 36,636,216 (GRCm39) H117L probably damaging Het
Klhl9 A T 4: 88,639,830 (GRCm39) V137D possibly damaging Het
Limch1 A G 5: 67,186,183 (GRCm39) Y828C probably damaging Het
Med1 T C 11: 98,046,341 (GRCm39) probably benign Het
Muc5ac A T 7: 141,361,212 (GRCm39) T1507S possibly damaging Het
Pak6 A T 2: 118,526,958 (GRCm39) Q651L probably damaging Het
Plscr2 T A 9: 92,173,133 (GRCm39) V90D probably damaging Het
Rbbp4 G A 4: 129,228,344 (GRCm39) T2I probably damaging Het
Rsph6a A G 7: 18,789,256 (GRCm39) K196R probably damaging Het
Tex47 A T 5: 7,355,529 (GRCm39) I237L probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r30 C A 6: 58,412,278 (GRCm39) V185L probably benign Het
Vmn2r103 A T 17: 20,032,411 (GRCm39) E728D probably damaging Het
Vmn2r14 A T 5: 109,368,033 (GRCm39) Y320N probably benign Het
Zc3h14 T A 12: 98,724,902 (GRCm39) F188Y 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
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
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'- TTTTCTATGGCCTGGCAGTC -3'
(R):5'- GTATCTTCCTAGGGAGACAGATGCTC -3'

Sequencing Primer
(F):5'- TATGGCCTGGCAGTCCATAAC -3'
(R):5'- GAGACAGATGCTCACAGGTTTTC -3'
Posted On 2015-03-18