Incidental Mutation 'R2917:Trim63'
| ID |
254900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim63
|
| Ensembl Gene |
ENSMUSG00000028834 |
| Gene Name |
tripartite motif-containing 63 |
| Synonyms |
MuRF1, Rnf28 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2917 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134042431-134056940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134050462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 249
(Y249H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101501
(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: Y249H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030638
Gene: ENSMUSG00000028834
AA Change: Y249H
| Domain | Start | End | E-Value | Type |
|---|
|
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: Y249H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101501
Gene: ENSMUSG00000028834
AA Change: Y249H
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
A |
17: 57,192,141 (GRCm39) |
V568E |
probably damaging |
Het |
| Ap3m2 |
A |
G |
8: 23,289,815 (GRCm39) |
V96A |
probably benign |
Het |
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,069,408 (GRCm39) |
I429T |
probably damaging |
Het |
| Cacna1h |
A |
C |
17: 25,614,426 (GRCm39) |
L230R |
probably damaging |
Het |
| Camta2 |
A |
G |
11: 70,571,787 (GRCm39) |
F479S |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,227,572 (GRCm39) |
Y2505* |
probably null |
Het |
| Colgalt2 |
T |
A |
1: 152,347,495 (GRCm39) |
V143D |
probably damaging |
Het |
| Dnaja1 |
C |
T |
4: 40,724,052 (GRCm39) |
A71V |
possibly damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,379 (GRCm39) |
V220A |
possibly damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,251 (GRCm39) |
L168* |
probably null |
Het |
| Lig4 |
T |
A |
8: 10,021,596 (GRCm39) |
E728V |
possibly damaging |
Het |
| Mrps23 |
T |
C |
11: 88,100,743 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
| Or5af2 |
A |
G |
11: 58,708,314 (GRCm39) |
N160S |
probably damaging |
Het |
| Prss50 |
G |
T |
9: 110,691,613 (GRCm39) |
G306C |
probably null |
Het |
| Rnf149 |
A |
T |
1: 39,591,564 (GRCm39) |
S392T |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,937,613 (GRCm39) |
F1661I |
probably damaging |
Het |
| Slc12a8 |
T |
A |
16: 33,371,296 (GRCm39) |
I144N |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,021,004 (GRCm39) |
L630* |
probably null |
Het |
| Tmem131l |
G |
A |
3: 83,844,887 (GRCm39) |
R441* |
probably null |
Het |
| Vmn2r125 |
T |
G |
4: 156,703,564 (GRCm39) |
L314R |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,585,106 (GRCm39) |
N663D |
probably benign |
Het |
|
| Other mutations in Trim63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R6893:Trim63
|
UTSW |
4 |
134,050,412 (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'- TCTGTCTCAGAAAGTGCGTTGG -3'
(R):5'- TGCAATGGCTCGAAATGCC -3'
Sequencing Primer
(F):5'- TCAGAAAGTGCGTTGGGACCC -3'
(R):5'- CCTGGCATTTCACCAAGATTTGAAC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation