Incidental Mutation 'IGL01152:Trim63'
ID50999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim63
Ensembl Gene ENSMUSG00000028834
Gene Nametripartite motif-containing 63
SynonymsMuRF1, Rnf28
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01152
Quality Score
Status
Chromosome4
Chromosomal Location134315120-134329629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 134325676 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 316 (A316V)
Ref Sequence ENSEMBL: ENSMUSP00000101501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030638] [ENSMUST00000105875]
Predicted Effect probably benign
Transcript: ENSMUST00000030638
AA Change: A316V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000030638
Gene: ENSMUSG00000028834
AA Change: A316V

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 benign
Transcript: ENSMUST00000105875
AA Change: A316V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000101501
Gene: ENSMUSG00000028834
AA Change: A316V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135576
Coding Region Coverage
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 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,435,164 H356L probably benign Het
A730013G03Rik T G 1: 192,833,639 noncoding transcript Het
Abcb4 G A 5: 8,950,678 V1031M probably benign Het
Abcc4 A G 14: 118,599,385 S655P probably damaging Het
Actn1 T C 12: 80,199,046 K121R probably damaging Het
Aldh1l2 T A 10: 83,522,886 R82* probably null Het
Arhgap31 T A 16: 38,602,239 H1155L possibly damaging Het
Atp8a1 G T 5: 67,847,206 P2Q probably damaging Het
Bcs1l A G 1: 74,592,015 M401V possibly damaging Het
Brca2 A T 5: 150,542,390 N1873I probably damaging Het
Cenpj T C 14: 56,552,300 N764S probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clk1 A T 1: 58,413,452 C359S possibly damaging Het
Clk2 T A 3: 89,176,511 F479I probably damaging Het
Cul4b T C X: 38,543,370 M709V probably damaging Het
D130052B06Rik G T 11: 33,623,620 probably null Het
Dgkb T A 12: 38,084,234 N46K probably damaging Het
Dnah9 C T 11: 66,072,056 R1811H probably damaging Het
Dnajc18 T C 18: 35,680,873 N281S probably benign Het
Galnt5 A T 2: 58,025,393 I654L probably benign Het
Gm9989 T G 3: 81,922,211 noncoding transcript Het
Gpr179 T C 11: 97,337,411 E1306G probably benign Het
Gsc C A 12: 104,471,605 K219N probably damaging Het
Gsx2 A T 5: 75,075,791 I11F probably damaging Het
Igdcc4 A C 9: 65,135,164 E121A probably damaging Het
Lama2 C T 10: 27,208,429 R915H probably benign Het
Large2 A G 2: 92,370,639 L64P probably damaging Het
Lztr1 C A 16: 17,522,453 Q136K probably damaging Het
Mageb18 A G X: 92,119,824 W271R possibly damaging Het
Magoh A C 4: 107,885,006 probably benign Het
Mrgprx1 T C 7: 48,021,486 H171R probably benign Het
Muc1 C A 3: 89,230,754 T301K probably benign Het
Nbas C T 12: 13,360,958 L868F probably damaging Het
Nwd2 A G 5: 63,806,529 D1152G possibly damaging Het
Olfr493 C T 7: 108,346,949 A11T probably benign Het
Olfr77 G A 9: 19,920,949 V247M possibly damaging Het
Ovgp1 T A 3: 105,986,172 D420E possibly damaging Het
Pacsin3 A G 2: 91,263,776 D350G probably benign Het
Pcolce2 A T 9: 95,692,923 N309Y probably damaging Het
Pim2 C A X: 7,878,422 probably benign Het
Plcb1 A G 2: 134,813,659 Y53C probably damaging Het
Pogk T C 1: 166,408,478 E18G probably damaging Het
Pxdn T A 12: 30,001,937 D704E probably damaging Het
Rb1 C A 14: 73,205,870 S781I probably damaging Het
Rnpepl1 A G 1: 92,915,899 H247R possibly damaging Het
Scube1 A T 15: 83,613,570 F697I probably damaging Het
Sel1l3 G T 5: 53,116,333 H1064N probably damaging Het
Serinc3 A G 2: 163,636,911 Y99H probably damaging Het
Slc36a2 T A 11: 55,169,847 probably benign Het
Smarcc1 A C 9: 110,139,625 E130A possibly damaging Het
Strc A G 2: 121,370,795 M1273T probably benign Het
Tmem116 A G 5: 121,463,799 I21V probably benign Het
Tmem190 T C 7: 4,784,026 probably benign Het
Ugt2b34 T C 5: 86,901,203 E321G probably damaging Het
Zfat T A 15: 68,110,504 R1053S probably damaging Het
Other mutations in Trim63
AlleleSourceChrCoordTypePredicted EffectPPH Score
murfy UTSW 4 134323101 missense probably damaging 1.00
FR4737:Trim63 UTSW 4 134327725 small deletion probably benign
PIT1430001:Trim63 UTSW 4 134321173 splice site probably benign
R0690:Trim63 UTSW 4 134316405 missense probably benign 0.00
R1782:Trim63 UTSW 4 134323038 missense probably benign
R1881:Trim63 UTSW 4 134316391 missense probably damaging 0.98
R2449:Trim63 UTSW 4 134323107 missense probably damaging 0.98
R2917:Trim63 UTSW 4 134323151 missense probably damaging 1.00
R2939:Trim63 UTSW 4 134322997 splice site probably benign
R3746:Trim63 UTSW 4 134315354 missense probably damaging 1.00
R3833:Trim63 UTSW 4 134321196 missense probably benign 0.33
R5276:Trim63 UTSW 4 134323133 missense probably benign 0.00
R5823:Trim63 UTSW 4 134316531 missense probably damaging 1.00
R6251:Trim63 UTSW 4 134323226 missense probably benign 0.00
R6312:Trim63 UTSW 4 134325697 missense probably damaging 1.00
R6893:Trim63 UTSW 4 134323101 missense probably damaging 1.00
R6924:Trim63 UTSW 4 134321261 missense probably damaging 0.96
X0027:Trim63 UTSW 4 134327706 small deletion probably benign
Posted On2013-06-21