Incidental Mutation 'R6815:Trim54'
ID 537268
Institutional Source Beutler Lab
Gene Symbol Trim54
Ensembl Gene ENSMUSG00000062077
Gene Name tripartite motif-containing 54
Synonyms Rnf30, 4930486E09Rik, MuRF3, 4930566I02Rik
MMRRC Submission 044927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6815 (G1)
Quality Score 185.009
Status Not validated
Chromosome 5
Chromosomal Location 31274056-31294974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31291424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 182 (V182L)
Ref Sequence ENSEMBL: ENSMUSP00000144629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013771] [ENSMUST00000043475] [ENSMUST00000201184] [ENSMUST00000202769]
AlphaFold Q9ERP3
Predicted Effect probably benign
Transcript: ENSMUST00000013771
AA Change: V182L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000013771
Gene: ENSMUSG00000062077
AA Change: V182L

DomainStartEndE-ValueType
RING 26 81 8.61e-9 SMART
BBOX 121 163 1.23e-4 SMART
Blast:BBC 170 295 1e-27 BLAST
low complexity region 331 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043475
SMART Domains Protein: ENSMUSP00000035321
Gene: ENSMUSG00000038676

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 56 62 N/A INTRINSIC
CRF 81 119 4.02e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201184
SMART Domains Protein: ENSMUSP00000144390
Gene: ENSMUSG00000038676

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 56 62 N/A INTRINSIC
CRF 81 119 4.02e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202769
AA Change: V182L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144629
Gene: ENSMUSG00000062077
AA Change: V182L

DomainStartEndE-ValueType
RING 26 81 8.61e-9 SMART
BBOX 121 163 1.23e-4 SMART
Blast:BBC 170 295 1e-27 BLAST
low complexity region 331 348 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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 motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cardiac function but are prone to cardiac rupture after acute myocardial infarction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T G 14: 54,828,610 (GRCm39) N297T probably damaging Het
6820408C15Rik A G 2: 152,282,975 (GRCm39) N251S probably benign Het
Abcc5 T C 16: 20,152,380 (GRCm39) T1389A probably damaging Het
Acad11 A G 9: 103,958,526 (GRCm39) T265A probably benign Het
Ace3 C T 11: 105,888,084 (GRCm39) Q302* probably null Het
Aip A T 19: 4,166,066 (GRCm39) H128Q probably benign Het
Akr1b7 A T 6: 34,389,269 (GRCm39) probably null Het
Arid4a T A 12: 71,063,856 (GRCm39) probably null Het
Armh1 T A 4: 117,087,134 (GRCm39) H177L probably damaging Het
Aspm A G 1: 139,407,880 (GRCm39) T2256A probably benign Het
Bco1 A T 8: 117,840,261 (GRCm39) M260L probably benign Het
Ccdc110 A G 8: 46,395,024 (GRCm39) N305S probably benign Het
Ccdc158 T A 5: 92,760,345 (GRCm39) Y1035F probably damaging Het
Cd180 C T 13: 102,841,937 (GRCm39) L328F probably damaging Het
Cntrl T C 2: 35,039,503 (GRCm39) L1121P probably damaging Het
Cyp2u1 A C 3: 131,091,659 (GRCm39) I287S probably damaging Het
Dnah3 C T 7: 119,570,950 (GRCm39) M2195I probably benign Het
Dnajc21 C T 15: 10,447,777 (GRCm39) probably null Het
Dock10 C T 1: 80,516,576 (GRCm39) V1398M possibly damaging Het
Dpy19l3 T A 7: 35,449,272 (GRCm39) I44F possibly damaging Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc4 T C 16: 12,941,299 (GRCm39) I139T probably damaging Het
Gpr4 T A 7: 18,956,560 (GRCm39) F161I probably damaging Het
Gucy2e A C 11: 69,122,827 (GRCm39) L516R possibly damaging Het
Hdhd5 A G 6: 120,498,170 (GRCm39) V143A probably benign Het
Heatr4 T A 12: 84,026,501 (GRCm39) Q252L probably damaging Het
Heatr5a T G 12: 52,002,291 (GRCm39) D215A possibly damaging Het
Hipk2 G T 6: 38,795,777 (GRCm39) A164D probably damaging Het
Igsf11 A G 16: 38,829,243 (GRCm39) I46V probably benign Het
Iqgap1 C T 7: 80,416,632 (GRCm39) probably null Het
Lrig1 A G 6: 94,602,010 (GRCm39) L281P probably damaging Het
Or10p22 A G 10: 128,826,191 (GRCm39) S137G probably benign Het
Or7g32 G T 9: 19,389,061 (GRCm39) H159N probably benign Het
Pcdha7 A G 18: 37,108,174 (GRCm39) T400A probably damaging Het
Pde5a A G 3: 122,618,573 (GRCm39) T629A probably benign Het
Pkhd1l1 A G 15: 44,426,051 (GRCm39) D3204G probably damaging Het
Prkd2 T C 7: 16,577,718 (GRCm39) F57S probably benign Het
Prr15l T C 11: 96,825,433 (GRCm39) V21A probably damaging Het
Rag2 T A 2: 101,460,900 (GRCm39) N403K probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rtl1 C A 12: 109,560,937 (GRCm39) D301Y probably damaging Het
Septin14 T C 5: 129,770,051 (GRCm39) N215S probably benign Het
Sin3a T A 9: 57,024,824 (GRCm39) D1061E probably benign Het
Skint5 T A 4: 113,574,324 (GRCm39) probably null Het
Stox2 A T 8: 47,646,136 (GRCm39) D441E probably damaging Het
Tmem52b G A 6: 129,493,705 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,292 (GRCm39) E62G probably benign Het
Trmt6 A C 2: 132,651,778 (GRCm39) V214G probably damaging Het
Ttc21b T C 2: 66,057,134 (GRCm39) S613G probably benign Het
Ttll4 C A 1: 74,718,508 (GRCm39) R120S possibly damaging Het
Wdr41 A T 13: 95,154,682 (GRCm39) K354N probably damaging Het
Zfp652 A T 11: 95,640,230 (GRCm39) K52* probably null Het
Other mutations in Trim54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Trim54 APN 5 31,294,302 (GRCm39) missense probably benign 0.00
IGL02393:Trim54 APN 5 31,289,324 (GRCm39) splice site probably benign
IGL02545:Trim54 APN 5 31,289,509 (GRCm39) splice site probably benign
IGL02664:Trim54 APN 5 31,293,391 (GRCm39) missense probably damaging 1.00
IGL03012:Trim54 APN 5 31,294,489 (GRCm39) missense probably benign
IGL03160:Trim54 APN 5 31,289,424 (GRCm39) missense probably damaging 0.96
R0238:Trim54 UTSW 5 31,291,463 (GRCm39) missense probably benign 0.18
R0238:Trim54 UTSW 5 31,291,463 (GRCm39) missense probably benign 0.18
R0617:Trim54 UTSW 5 31,293,526 (GRCm39) splice site probably null
R3624:Trim54 UTSW 5 31,294,320 (GRCm39) missense possibly damaging 0.91
R3753:Trim54 UTSW 5 31,291,488 (GRCm39) missense probably damaging 0.99
R7350:Trim54 UTSW 5 31,294,505 (GRCm39) missense probably benign
R7575:Trim54 UTSW 5 31,291,431 (GRCm39) missense possibly damaging 0.55
R8358:Trim54 UTSW 5 31,294,338 (GRCm39) missense probably benign 0.11
R9345:Trim54 UTSW 5 31,294,478 (GRCm39) missense probably benign
X0028:Trim54 UTSW 5 31,274,422 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTAATGGAAGACGTGGCTCTCC -3'
(R):5'- CACCATGAGCTAGAGTCCAG -3'

Sequencing Primer
(F):5'- GACGTGGCTCTCCTAACAAAG -3'
(R):5'- GAGTCCAGAAACTCTTTGGCCAG -3'
Posted On 2018-10-18