Incidental Mutation 'R6731:Trim21'
ID 530062
Institutional Source Beutler Lab
Gene Symbol Trim21
Ensembl Gene ENSMUSG00000030966
Gene Name tripartite motif-containing 21
Synonyms Ro52, Ssa1
MMRRC Submission 044849-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6731 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102207127-102214689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102208419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 433 (F433L)
Ref Sequence ENSEMBL: ENSMUSP00000102526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033264] [ENSMUST00000098227] [ENSMUST00000106913] [ENSMUST00000217478]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033264
AA Change: F433L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966
AA Change: F433L

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 damaging
Transcript: ENSMUST00000106913
AA Change: F433L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966
AA Change: F433L

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 noncoding transcript
Transcript: ENSMUST00000209679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209907
Predicted Effect probably benign
Transcript: ENSMUST00000217478
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency 98% (47/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 G A 8: 124,619,956 (GRCm39) T128I probably damaging Het
Ahnak T A 19: 8,988,926 (GRCm39) D3403E possibly damaging Het
Aldoc T A 11: 78,216,918 (GRCm39) D319E probably benign Het
Ank3 T A 10: 69,849,858 (GRCm39) D1108E possibly damaging Het
Ankrd7 G A 6: 18,866,653 (GRCm39) G58S probably damaging Het
Ass1 A T 2: 31,404,796 (GRCm39) Y359F probably damaging Het
B3gnt2 G T 11: 22,786,888 (GRCm39) S100* probably null Het
Cd46 T C 1: 194,765,775 (GRCm39) probably null Het
Chst5 G T 8: 112,616,676 (GRCm39) R315S probably benign Het
Cps1 T C 1: 67,200,030 (GRCm39) S393P probably damaging Het
Dis3l T C 9: 64,217,720 (GRCm39) probably null Het
Fgg T C 3: 82,920,208 (GRCm39) F329S probably damaging Het
Hsp90b1 T C 10: 86,537,769 (GRCm39) T179A probably benign Het
Kat2a A T 11: 100,599,099 (GRCm39) M559K probably damaging Het
Klhl41 T C 2: 69,505,044 (GRCm39) I449T probably damaging Het
Lama5 A T 2: 179,830,367 (GRCm39) I1880N probably benign Het
Lcp1 A G 14: 75,443,629 (GRCm39) D215G probably damaging Het
Lrch3 A G 16: 32,770,790 (GRCm39) T131A probably damaging Het
Mroh6 T C 15: 75,760,341 (GRCm39) T78A probably benign Het
Naa15 T G 3: 51,363,294 (GRCm39) V326G probably damaging Het
Nalcn T A 14: 123,837,346 (GRCm39) Q6L probably benign Het
Nipbl T A 15: 8,352,074 (GRCm39) I1863L probably damaging Het
Obi1 C T 14: 104,716,910 (GRCm39) V488I probably benign Het
Os9 C T 10: 126,934,412 (GRCm39) G408D probably benign Het
Pcbp2 T C 15: 102,397,225 (GRCm39) S237P probably damaging Het
Pcdhb10 G A 18: 37,546,529 (GRCm39) R535H probably benign Het
Pex5l A T 3: 33,012,947 (GRCm39) I320K probably damaging Het
Pgm2 T C 5: 64,258,318 (GRCm39) F101S probably benign Het
Phf8-ps A G 17: 33,285,200 (GRCm39) V534A probably benign Het
Poc1b T A 10: 98,988,733 (GRCm39) D207E probably null Het
Pou6f1 T C 15: 100,477,764 (GRCm39) I460V possibly damaging Het
Rnf17 A T 14: 56,761,807 (GRCm39) Q1623H possibly damaging Het
Rpap1 T C 2: 119,608,777 (GRCm39) N195S probably benign Het
Sacs C A 14: 61,418,149 (GRCm39) probably null Het
Scube2 G A 7: 109,409,944 (GRCm39) T643M probably damaging Het
Sele C T 1: 163,881,242 (GRCm39) L481F probably damaging Het
Stk32a A G 18: 43,438,143 (GRCm39) Y214C probably damaging Het
Tex44 T A 1: 86,354,207 (GRCm39) S39T probably benign Het
Tmem135 A T 7: 88,893,172 (GRCm39) M140K possibly damaging Het
Tox2 A G 2: 163,162,297 (GRCm39) Y354C probably damaging Het
Trim24 T C 6: 37,920,420 (GRCm39) F406L probably damaging Het
Ubr1 G C 2: 120,786,121 (GRCm39) H166Q probably null Het
Wnt16 T A 6: 22,297,891 (GRCm39) Y252* probably null Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp141 T C 7: 42,138,924 (GRCm39) D36G probably damaging Het
Zfp729a C T 13: 67,768,265 (GRCm39) V655I probably benign Het
Zfp974 A T 7: 27,611,074 (GRCm39) V217E possibly damaging 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
R7612:Trim21 UTSW 7 102,208,742 (GRCm39) missense probably benign 0.01
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'- TATCCAGAAATGGTCCCCAGG -3'
(R):5'- AGGGCAGTTTTCACTCAGTC -3'

Sequencing Primer
(F):5'- GAGTCACTGGATCTTGATCAGGAC -3'
(R):5'- AGTTTTCACTCAGTCCCGAGAATGG -3'
Posted On 2018-08-01