Incidental Mutation 'R8008:Trim21'
ID 616745
Institutional Source Beutler Lab
Gene Symbol Trim21
Ensembl Gene ENSMUSG00000030966
Gene Name tripartite motif-containing 21
Synonyms Ro52, Ssa1
MMRRC Submission 046048-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102207127-102214689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 102209183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 280 (T280K)
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: T280K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966
AA Change: T280K

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: T280K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966
AA Change: T280K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
Alpi A G 1: 87,026,384 (GRCm39) S536P unknown Het
Ankar A G 1: 72,705,643 (GRCm39) V789A possibly damaging Het
Atp5f1b C A 10: 127,919,277 (GRCm39) Q28K unknown Het
Brpf1 T C 6: 113,296,050 (GRCm39) V781A probably benign Het
Cd177 G A 7: 24,451,774 (GRCm39) S414L not run Het
Cimip3 T A 17: 47,747,661 (GRCm39) E28V probably damaging Het
Clca3b T A 3: 144,550,370 (GRCm39) T192S probably benign Het
Coro2a A T 4: 46,551,349 (GRCm39) S119T probably damaging Het
Cpped1 T C 16: 11,646,260 (GRCm39) N164S probably damaging Het
Crybg2 T A 4: 133,818,415 (GRCm39) N1390K probably damaging Het
Epn2 C T 11: 61,437,492 (GRCm39) A27T probably damaging Het
Esp34 T C 17: 38,870,490 (GRCm39) F128S possibly damaging Het
Evpl T A 11: 116,121,298 (GRCm39) N410Y probably null Het
Flnb A G 14: 7,892,155 (GRCm38) Y608C probably damaging Het
Fpr3 T C 17: 18,191,715 (GRCm39) S329P probably benign Het
Frem2 T A 3: 53,560,331 (GRCm39) N1392I probably damaging Het
Garin2 T A 12: 78,761,817 (GRCm39) D160E probably benign Het
Gpi1 G T 7: 33,917,726 (GRCm39) N249K probably damaging Het
Gpr87 T C 3: 59,087,466 (GRCm39) N13S probably benign Het
Gys2 T C 6: 142,400,243 (GRCm39) T323A probably damaging Het
Iqgap3 T C 3: 88,016,770 (GRCm39) I1084T probably damaging Het
Lrfn4 C G 19: 4,663,565 (GRCm39) G323A probably benign Het
Lrrc4c A T 2: 97,460,594 (GRCm39) S407C possibly damaging Het
Map3k20 A T 2: 72,268,613 (GRCm39) Q540L probably benign Het
Myom1 T C 17: 71,407,057 (GRCm39) V1158A probably benign Het
Ncor2 T C 5: 125,144,983 (GRCm39) D378G unknown Het
Nhsl1 T A 10: 18,284,186 (GRCm39) D42E probably damaging Het
Nr0b2 C A 4: 133,283,339 (GRCm39) A192E probably benign Het
Nt5c1b A G 12: 10,425,000 (GRCm39) D182G possibly damaging Het
Or12d14-ps1 T C 17: 37,673,265 (GRCm39) S86P probably damaging Het
Or4c115 A T 2: 88,928,059 (GRCm39) C71S probably benign Het
Or5b119 T C 19: 13,457,170 (GRCm39) T131A probably benign Het
Or5k15 T C 16: 58,710,251 (GRCm39) T111A probably benign Het
Or8b12 A T 9: 37,658,089 (GRCm39) I220F probably damaging Het
Pepd A G 7: 34,721,126 (GRCm39) N250S probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pmp22 C T 11: 63,049,233 (GRCm39) R159C probably damaging Het
Pou3f1 C T 4: 124,552,764 (GRCm39) A422V unknown Het
Rab11fip3 A G 17: 26,286,956 (GRCm39) L399P probably damaging Het
Rragc A G 4: 123,829,340 (GRCm39) D352G probably damaging Het
Ryr2 A G 13: 11,671,980 (GRCm39) V3420A probably benign Het
Sez6 T A 11: 77,864,082 (GRCm39) Y521* probably null Het
Smc4 T C 3: 68,914,645 (GRCm39) V86A probably damaging Het
Stap2 T A 17: 56,304,790 (GRCm39) M331L probably benign Het
Syt8 G A 7: 141,992,259 (GRCm39) R89H probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trim36 C A 18: 46,305,556 (GRCm39) V476F probably benign Het
Troap G T 15: 98,973,511 (GRCm39) R56L probably benign Het
Ttn A T 2: 76,667,130 (GRCm39) I11492K unknown Het
Tuft1 T C 3: 94,521,440 (GRCm39) T390A probably damaging Het
Ucp1 T C 8: 84,020,640 (GRCm39) I150T probably benign Het
Usp17lb A T 7: 104,490,481 (GRCm39) C149S possibly damaging Het
Vmn1r159 A T 7: 22,542,665 (GRCm39) N122K possibly damaging Het
Vmn1r237 T C 17: 21,534,456 (GRCm39) C60R probably damaging Het
Wdr12 A T 1: 60,128,494 (GRCm39) Y85* probably null Het
Wdr3 T C 3: 100,062,252 (GRCm39) D221G probably benign Het
Wdr97 G A 15: 76,244,832 (GRCm39) E1125K Het
Zan T C 5: 137,403,624 (GRCm39) E3974G 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
R7612:Trim21 UTSW 7 102,208,742 (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'- CCCTTCCTCTGACATGTGAG -3'
(R):5'- TTCCTGTGGACATTGAATGCATG -3'

Sequencing Primer
(F):5'- CTCTGACATGTGAGGAAACTTCATC -3'
(R):5'- GAGTTTAATTATTGAGCCGTCCATG -3'
Posted On 2020-01-23