Incidental Mutation 'R6893:Trim63'
ID 538149
Institutional Source Beutler Lab
Gene Symbol Trim63
Ensembl Gene ENSMUSG00000028834
Gene Name tripartite motif-containing 63
Synonyms MuRF1, Rnf28
MMRRC Submission 044987-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6893 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 134042431-134056940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134050412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 232 (T232M)
Ref Sequence ENSEMBL: ENSMUSP00000030638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030638] [ENSMUST00000105875]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000030638
AA Change: T232M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030638
Gene: ENSMUSG00000028834
AA Change: T232M

DomainStartEndE-ValueType
RING 23 78 1.4e-8 SMART
BBOX 117 159 1.41e-4 SMART
Blast:BBC 166 292 3e-75 BLAST
PDB:4M3L|D 213 271 3e-28 PDB
low complexity region 324 350 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105875
AA Change: T232M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101501
Gene: ENSMUSG00000028834
AA Change: T232M

DomainStartEndE-ValueType
RING 23 78 1.4e-8 SMART
BBOX 117 159 1.41e-4 SMART
Blast:BBC 166 292 3e-75 BLAST
PDB:4M3L|D 213 271 3e-28 PDB
low complexity region 323 353 N/A INTRINSIC
Meta Mutation Damage Score 0.0979 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.7%
  • 20x: 95.2%
Validation Efficiency 100% (49/49)
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 RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012]
PHENOTYPE: A targeted homozygous mutation in this gene results in resistance to skeletal muscle atrophy in response to nerve injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 T A 8: 25,368,770 (GRCm39) D538V probably damaging Het
Akap9 T C 5: 4,011,709 (GRCm39) I804T probably benign Het
Amy1 T C 3: 113,357,281 (GRCm39) E186G probably benign Het
Best1 A G 19: 9,974,446 (GRCm39) Y33H probably damaging Het
Cacna1s C A 1: 136,005,431 (GRCm39) N405K probably benign Het
Casp7 T C 19: 56,421,741 (GRCm39) Y60H probably damaging Het
Ccdc61 T C 7: 18,626,488 (GRCm39) N367S possibly damaging Het
Cnksr3 A T 10: 7,085,129 (GRCm39) probably null Het
Col14a1 A C 15: 55,308,044 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,323,784 (GRCm39) K424* probably null Het
Dnai3 T C 3: 145,786,184 (GRCm39) E366G probably damaging Het
Dpep3 T C 8: 106,700,474 (GRCm39) K411E probably benign Het
Ebf2 T A 14: 67,475,008 (GRCm39) V81E probably benign Het
Ehbp1 G T 11: 21,964,945 (GRCm39) T1084K probably damaging Het
Fastkd2 C T 1: 63,770,953 (GRCm39) A103V possibly damaging Het
Gtf3c2 T C 5: 31,323,722 (GRCm39) K525E probably benign Het
Hdac2 A G 10: 36,873,003 (GRCm39) E287G probably damaging Het
Ifi207 T A 1: 173,555,208 (GRCm39) T832S possibly damaging Het
Igf1 G C 10: 87,700,722 (GRCm39) V49L probably damaging Het
Lef1 A G 3: 130,909,149 (GRCm39) D55G possibly damaging Het
Lipo2 G T 19: 33,698,407 (GRCm39) Y323* probably null Het
Mettl24 C T 10: 40,613,794 (GRCm39) R178C probably damaging Het
Naa80 A G 9: 107,460,225 (GRCm39) E40G probably damaging Het
Ndrg4 C A 8: 96,433,229 (GRCm39) C66* probably null Het
Nemf A G 12: 69,399,110 (GRCm39) V140A probably benign Het
Nid2 T A 14: 19,839,855 (GRCm39) F815I probably benign Het
Or4c108 A G 2: 88,804,143 (GRCm39) F31L probably benign Het
Or5b106 A C 19: 13,123,106 (GRCm39) S306A probably benign Het
Or8b12c A C 9: 37,716,141 (GRCm39) *311C probably null Het
Or8b3b A T 9: 38,584,355 (GRCm39) N141K possibly damaging Het
Or8k30 A G 2: 86,339,136 (GRCm39) E111G probably damaging Het
Pcdhga3 T C 18: 37,809,598 (GRCm39) S684P probably benign Het
Plch1 A T 3: 63,660,562 (GRCm39) C352* probably null Het
Plscr2 G A 9: 92,172,757 (GRCm39) V139I probably benign Het
Ppa1 T A 10: 61,508,182 (GRCm39) C270S probably benign Het
Ryr2 T A 13: 11,844,540 (GRCm39) M399L possibly damaging Het
Scn3a A G 2: 65,356,098 (GRCm39) V212A possibly damaging Het
Serpina3b A G 12: 104,099,285 (GRCm39) K267E probably benign Het
Shroom3 A G 5: 93,090,063 (GRCm39) T938A probably damaging Het
Specc1 A C 11: 62,023,279 (GRCm39) S115R probably benign Het
Stim2 C T 5: 54,210,787 (GRCm39) T74I probably benign Het
Sult6b2 T A 6: 142,750,025 (GRCm39) D31V possibly damaging Het
Tbc1d24 A T 17: 24,401,492 (GRCm39) W406R probably damaging Het
Tmprss11b A G 5: 86,811,245 (GRCm39) probably null Het
Trappc9 A G 15: 72,797,499 (GRCm39) Y575H possibly damaging Het
Ttn A T 2: 76,598,180 (GRCm39) S19578T probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Xpo4 T A 14: 57,819,767 (GRCm39) E1139D probably benign Het
Other mutations in Trim63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Trim63 APN 4 134,052,987 (GRCm39) missense probably benign 0.00
murfy UTSW 4 134,050,412 (GRCm39) missense probably damaging 1.00
FR4737:Trim63 UTSW 4 134,055,036 (GRCm39) small deletion probably benign
PIT1430001:Trim63 UTSW 4 134,048,484 (GRCm39) splice site probably benign
R0690:Trim63 UTSW 4 134,043,716 (GRCm39) missense probably benign 0.00
R1782:Trim63 UTSW 4 134,050,349 (GRCm39) missense probably benign
R1881:Trim63 UTSW 4 134,043,702 (GRCm39) missense probably damaging 0.98
R2449:Trim63 UTSW 4 134,050,418 (GRCm39) missense probably damaging 0.98
R2917:Trim63 UTSW 4 134,050,462 (GRCm39) missense probably damaging 1.00
R2939:Trim63 UTSW 4 134,050,308 (GRCm39) splice site probably benign
R3746:Trim63 UTSW 4 134,042,665 (GRCm39) missense probably damaging 1.00
R3833:Trim63 UTSW 4 134,048,507 (GRCm39) missense probably benign 0.33
R5276:Trim63 UTSW 4 134,050,444 (GRCm39) missense probably benign 0.00
R5823:Trim63 UTSW 4 134,043,842 (GRCm39) missense probably damaging 1.00
R6251:Trim63 UTSW 4 134,050,537 (GRCm39) missense probably benign 0.00
R6312:Trim63 UTSW 4 134,053,008 (GRCm39) missense probably damaging 1.00
R6924:Trim63 UTSW 4 134,048,572 (GRCm39) missense probably damaging 0.96
R8368:Trim63 UTSW 4 134,055,017 (GRCm39) small deletion probably benign
R9120:Trim63 UTSW 4 134,055,003 (GRCm39) splice site probably benign
X0027:Trim63 UTSW 4 134,055,017 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TGCTGCAGATAGTTCCTGGG -3'
(R):5'- TTTCACCAAGATTTGAACGGCC -3'

Sequencing Primer
(F):5'- AGATAGTTCCTGGGGCCCTTC -3'
(R):5'- CCCGTTCGAGGGTTAAGAAAGTC -3'
Posted On 2018-11-06