Incidental Mutation 'R7612:Trim21'
ID 588666
Institutional Source Beutler Lab
Gene Symbol Trim21
Ensembl Gene ENSMUSG00000030966
Gene Name tripartite motif-containing 21
Synonyms Ro52, Ssa1
MMRRC Submission 045680-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7612 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102207127-102214689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102208742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 326 (M326L)
Ref Sequence ENSEMBL: ENSMUSP00000033264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033264] [ENSMUST00000098227] [ENSMUST00000106913] [ENSMUST00000217478]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033264
AA Change: M326L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966
AA Change: M326L

DomainStartEndE-ValueType
RING 12 50 6e-8 SMART
BBOX 83 124 2.71e-15 SMART
coiled coil region 184 242 N/A INTRINSIC
PRY 282 334 1.08e-23 SMART
SPRY 335 461 8.9e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098227
SMART Domains Protein: ENSMUSP00000095829
Gene: ENSMUSG00000073977

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.7e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 225 1.2e-11 PFAM
Pfam:7tm_1 43 294 1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106913
AA Change: M326L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966
AA Change: M326L

DomainStartEndE-ValueType
RING 12 50 6e-8 SMART
BBOX 83 124 2.71e-15 SMART
coiled coil region 184 242 N/A INTRINSIC
PRY 282 334 1.08e-23 SMART
SPRY 335 461 8.9e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217478
Meta Mutation Damage Score 0.1336 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Unmanipulated homozygous mice are normal, but leads to tissue inflammation and systemic autoimmunity in vivo and reduced number of CD11c+ dendritic cells from mutant bone marrow in vitro. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A T 16: 88,570,496 (GRCm39) Y181* probably null Het
Adgrf2 T G 17: 43,025,271 (GRCm39) K71T possibly damaging Het
Brca2 T A 5: 150,464,076 (GRCm39) M1280K probably benign Het
Card14 T C 11: 119,224,405 (GRCm39) S541P possibly damaging Het
Cd19 G T 7: 126,013,496 (GRCm39) Q98K possibly damaging Het
Ceacam5 T A 7: 17,493,341 (GRCm39) I788N possibly damaging Het
Cpne2 A T 8: 95,284,048 (GRCm39) I290L probably benign Het
Cpsf1 C T 15: 76,481,209 (GRCm39) V1216I probably benign Het
Csad G A 15: 102,097,357 (GRCm39) probably benign Het
Depdc7 T A 2: 104,560,853 (GRCm39) Q47L probably benign Het
Dnajc6 T A 4: 101,455,123 (GRCm39) S105T probably benign Het
Dsg4 C A 18: 20,604,047 (GRCm39) P838Q probably damaging Het
Efcab3 T A 11: 104,999,647 (GRCm39) Y179N possibly damaging Het
Egfr A T 11: 16,809,025 (GRCm39) N73I possibly damaging Het
Eya2 T C 2: 165,529,657 (GRCm39) probably null Het
Fubp1 A G 3: 151,923,652 (GRCm39) Q123R possibly damaging Het
Galns A G 8: 123,311,693 (GRCm39) I439T possibly damaging Het
Gm57858 A T 3: 36,079,506 (GRCm39) S261R possibly damaging Het
Gsdmd T G 15: 75,736,803 (GRCm39) L140R probably damaging Het
Hcrtr1 A G 4: 130,029,478 (GRCm39) V201A possibly damaging Het
Ildr2 T A 1: 166,135,361 (GRCm39) M371K probably benign Het
Kalrn G A 16: 34,134,582 (GRCm39) T412I possibly damaging Het
Kdm5b C T 1: 134,552,656 (GRCm39) Q1211* probably null Het
Loxhd1 T C 18: 77,517,671 (GRCm39) S1840P possibly damaging Het
Maml2 A G 9: 13,617,781 (GRCm39) M376V probably benign Het
Mgat4e T C 1: 134,469,745 (GRCm39) T100A probably damaging Het
Myo18b T A 5: 113,013,168 (GRCm39) T812S possibly damaging Het
Nanp T A 2: 150,881,158 (GRCm39) E30V probably null Het
Or2w1b G T 13: 21,300,217 (GRCm39) M118I probably damaging Het
Or4c107 T G 2: 88,788,849 (GRCm39) L13R probably damaging Het
Or5ac21 A T 16: 59,123,990 (GRCm39) H158L probably damaging Het
Parp3 T A 9: 106,351,393 (GRCm39) N241I probably benign Het
Piezo2 T C 18: 63,175,610 (GRCm39) N1924D probably benign Het
Pou1f1 A G 16: 65,326,811 (GRCm39) N137S probably damaging Het
Ptgdr A G 14: 45,096,094 (GRCm39) M206T probably damaging Het
Ptprd T C 4: 76,004,696 (GRCm39) T20A probably benign Het
Rexo1 G C 10: 80,385,497 (GRCm39) S520R probably benign Het
Sgip1 T A 4: 102,727,005 (GRCm39) S94T probably benign Het
Slc35e3 A G 10: 117,576,785 (GRCm39) V182A probably benign Het
Slfn2 A G 11: 82,961,089 (GRCm39) E356G probably damaging Het
Spry4 C A 18: 38,722,982 (GRCm39) K260N probably damaging Het
Sync A T 4: 129,187,375 (GRCm39) M136L probably benign Het
Tm7sf2 A G 19: 6,120,638 (GRCm39) V425A probably benign Het
Trim62 A G 4: 128,790,677 (GRCm39) Q158R probably benign Het
Tubgcp2 T A 7: 139,580,964 (GRCm39) K663M probably damaging Het
Uggt1 T C 1: 36,202,316 (GRCm39) I1094V probably damaging Het
Urb1 A G 16: 90,594,798 (GRCm39) S245P probably damaging Het
Vwa3a A T 7: 120,351,838 (GRCm39) D34V probably null Het
Zbtb45 C T 7: 12,741,326 (GRCm39) A311T possibly damaging Het
Zfp655 T C 5: 145,173,999 (GRCm39) S135P unknown Het
Other mutations in Trim21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Trim21 APN 7 102,208,805 (GRCm39) missense probably damaging 1.00
IGL01729:Trim21 APN 7 102,213,100 (GRCm39) missense probably damaging 0.97
IGL02680:Trim21 APN 7 102,208,870 (GRCm39) missense probably benign 0.44
IGL03349:Trim21 APN 7 102,212,484 (GRCm39) missense probably benign 0.00
R1508:Trim21 UTSW 7 102,208,783 (GRCm39) missense possibly damaging 0.52
R1662:Trim21 UTSW 7 102,211,105 (GRCm39) nonsense probably null
R2904:Trim21 UTSW 7 102,209,178 (GRCm39) missense probably benign 0.00
R4482:Trim21 UTSW 7 102,213,140 (GRCm39) nonsense probably null
R5480:Trim21 UTSW 7 102,208,463 (GRCm39) missense probably benign 0.05
R5606:Trim21 UTSW 7 102,208,813 (GRCm39) missense probably damaging 0.99
R6130:Trim21 UTSW 7 102,212,498 (GRCm39) missense possibly damaging 0.95
R6214:Trim21 UTSW 7 102,208,646 (GRCm39) missense probably damaging 0.96
R6215:Trim21 UTSW 7 102,208,646 (GRCm39) missense probably damaging 0.96
R6291:Trim21 UTSW 7 102,213,289 (GRCm39) missense probably damaging 1.00
R6731:Trim21 UTSW 7 102,208,419 (GRCm39) missense probably damaging 1.00
R8008:Trim21 UTSW 7 102,209,183 (GRCm39) missense probably benign 0.01
R8491:Trim21 UTSW 7 102,208,689 (GRCm39) missense probably benign 0.12
R8784:Trim21 UTSW 7 102,208,675 (GRCm39) missense probably benign 0.00
R8991:Trim21 UTSW 7 102,212,908 (GRCm39) missense probably benign
R9380:Trim21 UTSW 7 102,212,992 (GRCm39) missense probably damaging 1.00
R9730:Trim21 UTSW 7 102,213,247 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- ATCCCAATTTGGCATGGAGG -3'
(R):5'- GGCCTCATGCATCCAGTCTTAC -3'

Sequencing Primer
(F):5'- CTGGTACCAGCCTCATAGC -3'
(R):5'- CATGCATCCAGTCTTACTTATGATC -3'
Posted On 2019-10-24