Incidental Mutation 'R5980:Trim68'
ID 481385
Institutional Source Beutler Lab
Gene Symbol Trim68
Ensembl Gene ENSMUSG00000073968
Gene Name tripartite motif-containing 68
Synonyms SS-56, Rnf137, F730114J12Rik
MMRRC Submission 044162-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5980 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102326789-102336534 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102328038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 305 (V305A)
Ref Sequence ENSEMBL: ENSMUSP00000080813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082175] [ENSMUST00000210855]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000082175
AA Change: V305A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080813
Gene: ENSMUSG00000073968
AA Change: V305A

DomainStartEndE-ValueType
RING 16 60 1.61e-8 SMART
BBOX 93 134 9.89e-9 SMART
coiled coil region 187 226 N/A INTRINSIC
PRY 302 354 1.91e-24 SMART
SPRY 355 482 3.03e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210406
Predicted Effect silent
Transcript: ENSMUST00000210855
Meta Mutation Damage Score 0.8811 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 96% (50/52)
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-containing protein family, whose members are characterized by a "really interesting new gene" (RING) finger domain, a zinc-binding B-box motif, and a coiled-coil region. Members of this family function as E3 ubiquitin ligases and are involved in a broad range of biological processes. This gene regulates the activation of nuclear receptors, such as androgen receptor, and has been implicated in development of prostate cancer cells, where its expression increases in response to a downregulation of microRNAs. In addition, this gene participates in viral defense regulation as a negative regulator of interferon-beta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,544,018 (GRCm39) N508D possibly damaging Het
Ago1 C T 4: 126,354,362 (GRCm39) probably benign Het
Apol6 A T 15: 76,935,219 (GRCm39) T163S possibly damaging Het
Arhgap27 T C 11: 103,247,095 (GRCm39) T33A probably benign Het
Atg7 C A 6: 114,657,197 (GRCm39) F132L possibly damaging Het
Cep104 C A 4: 154,072,930 (GRCm39) A396E probably benign Het
Cers4 T A 8: 4,568,269 (GRCm39) C107* probably null Het
Cntn6 T C 6: 104,825,093 (GRCm39) S878P probably damaging Het
Dnah6 T C 6: 73,158,705 (GRCm39) K633E probably benign Het
Dst T A 1: 34,221,972 (GRCm39) I2592K probably benign Het
Ep400 G A 5: 110,881,595 (GRCm39) probably benign Het
Fbn1 A G 2: 125,157,324 (GRCm39) C2320R probably damaging Het
Gpi1 A G 7: 33,928,351 (GRCm39) probably null Het
Gse1 T G 8: 120,956,376 (GRCm39) probably benign Het
Hid1 G A 11: 115,241,774 (GRCm39) T612I possibly damaging Het
Ighmbp2 G T 19: 3,315,295 (GRCm39) H708Q probably benign Het
Igkv10-95 T C 6: 68,657,573 (GRCm39) S10P probably damaging Het
Igkv14-100 T C 6: 68,496,009 (GRCm39) V5A probably benign Het
Irgq G A 7: 24,232,770 (GRCm39) G204S probably damaging Het
Kansl1 T C 11: 104,234,463 (GRCm39) K681R possibly damaging Het
Kcnv1 C A 15: 44,972,810 (GRCm39) V358L probably damaging Het
Lrp2 A T 2: 69,365,349 (GRCm39) S275T probably damaging Het
Lysmd1 A T 3: 95,045,219 (GRCm39) D155V probably damaging Het
Magel2 A T 7: 62,030,344 (GRCm39) I1083F unknown Het
Mta3 T A 17: 84,015,834 (GRCm39) V12D probably damaging Het
Mtmr4 T C 11: 87,494,977 (GRCm39) I423T probably damaging Het
Mup11 A G 4: 60,616,887 (GRCm39) Y16H possibly damaging Het
Mycbp G A 4: 123,804,889 (GRCm39) V91I probably benign Het
Ngly1 A C 14: 16,270,509 (GRCm38) Q72P possibly damaging Het
Nol4 T A 18: 23,085,258 (GRCm39) Q52L probably damaging Het
Nrcam T C 12: 44,618,416 (GRCm39) V808A probably damaging Het
Or10p22 A G 10: 128,826,309 (GRCm39) H176R probably damaging Het
Or5ak23 A T 2: 85,244,509 (GRCm39) F238Y probably damaging Het
Or8k24 A T 2: 86,216,141 (GRCm39) L207* probably null Het
Pate10 A C 9: 35,652,911 (GRCm39) D51A probably damaging Het
Pik3c2b C A 1: 133,016,046 (GRCm39) D869E probably benign Het
Pom121l2 T C 13: 22,167,546 (GRCm39) S606P probably damaging Het
Prdm15 G A 16: 97,613,770 (GRCm39) R517* probably null Het
Ralgapa1 T A 12: 55,817,401 (GRCm39) probably null Het
Saraf T A 8: 34,632,541 (GRCm39) F207I probably benign Het
Sema6d A G 2: 124,506,628 (GRCm39) D874G probably damaging Het
Sfrp5 A T 19: 42,190,411 (GRCm39) L14M unknown Het
Sidt1 A T 16: 44,083,675 (GRCm39) C485* probably null Het
Sptbn4 A G 7: 27,071,596 (GRCm39) Y1618H probably damaging Het
Syt14 T C 1: 192,662,716 (GRCm39) Q127R possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Ticrr G A 7: 79,310,703 (GRCm39) A206T probably damaging Het
Tmem132d T A 5: 127,861,662 (GRCm39) I820F probably benign Het
Trafd1 A G 5: 121,511,520 (GRCm39) Y433H probably damaging Het
Vmn2r58 T A 7: 41,514,480 (GRCm39) Y163F possibly damaging Het
Vmn2r83 T A 10: 79,314,626 (GRCm39) H291Q probably benign Het
Vmn2r95 A G 17: 18,661,624 (GRCm39) I457V probably benign Het
Other mutations in Trim68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Trim68 APN 7 102,328,348 (GRCm39) splice site probably null
IGL02703:Trim68 APN 7 102,333,286 (GRCm39) missense probably damaging 0.99
IGL02835:Trim68 UTSW 7 102,327,780 (GRCm39) missense probably benign 0.21
R1765:Trim68 UTSW 7 102,329,597 (GRCm39) missense possibly damaging 0.82
R1780:Trim68 UTSW 7 102,333,280 (GRCm39) missense possibly damaging 0.58
R4107:Trim68 UTSW 7 102,327,658 (GRCm39) missense probably benign 0.01
R4451:Trim68 UTSW 7 102,333,680 (GRCm39) start codon destroyed probably damaging 1.00
R5385:Trim68 UTSW 7 102,327,990 (GRCm39) missense probably damaging 1.00
R5793:Trim68 UTSW 7 102,333,560 (GRCm39) missense possibly damaging 0.74
R6749:Trim68 UTSW 7 102,327,990 (GRCm39) missense probably damaging 0.99
R6912:Trim68 UTSW 7 102,333,675 (GRCm39) missense probably damaging 1.00
R7396:Trim68 UTSW 7 102,327,569 (GRCm39) nonsense probably null
R7789:Trim68 UTSW 7 102,333,676 (GRCm39) missense possibly damaging 0.61
R7892:Trim68 UTSW 7 102,328,004 (GRCm39) missense unknown
R8096:Trim68 UTSW 7 102,327,649 (GRCm39) missense probably damaging 1.00
R8922:Trim68 UTSW 7 102,327,550 (GRCm39) missense probably benign 0.03
R8986:Trim68 UTSW 7 102,327,808 (GRCm39) nonsense probably null
R9026:Trim68 UTSW 7 102,329,447 (GRCm39) missense probably damaging 0.96
X0067:Trim68 UTSW 7 102,333,339 (GRCm39) missense probably benign 0.00
Z1176:Trim68 UTSW 7 102,328,020 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTCTACCTCCCAGTAGTG -3'
(R):5'- ACCCTGAAGACATTTGCAGG -3'

Sequencing Primer
(F):5'- CTCCCAGTAGTGCCGGC -3'
(R):5'- CCCTGAAGACATTTGCAGGTATTAG -3'
Posted On 2017-06-26