Incidental Mutation 'R5562:Trim55'
| ID |
436653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim55
|
| Ensembl Gene |
ENSMUSG00000060913 |
| Gene Name |
tripartite motif-containing 55 |
| Synonyms |
Murf2, D830041C10Rik |
| MMRRC Submission |
043119-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5562 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
19698638-19746585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19713317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 123
(M123L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029139]
|
| AlphaFold |
G3X8Y1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029139
AA Change: M123L
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
AA Change: M123L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
26 |
81 |
3.69e-8 |
SMART |
|
BBOX
|
119 |
161 |
3.58e-6 |
SMART |
|
Blast:BBC
|
168 |
294 |
2e-33 |
BLAST |
|
PDB:4M3L|D
|
215 |
272 |
2e-12 |
PDB |
|
low complexity region
|
329 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
526 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| 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 zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased heart and muscle to body weight ratios and cardiac hypertrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
G |
A |
19: 20,679,628 (GRCm39) |
Q383* |
probably null |
Het |
| Alkbh3 |
A |
T |
2: 93,826,724 (GRCm39) |
|
probably null |
Het |
| Amotl1 |
G |
A |
9: 14,486,593 (GRCm39) |
P434S |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,214,971 (GRCm39) |
E1641G |
probably damaging |
Het |
| Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
| C7 |
A |
T |
15: 5,061,397 (GRCm39) |
Y317* |
probably null |
Het |
| Car4 |
A |
T |
11: 84,854,924 (GRCm39) |
M91L |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,785,266 (GRCm39) |
D98G |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,036,678 (GRCm39) |
M493V |
probably damaging |
Het |
| Cdhr3 |
C |
G |
12: 33,101,054 (GRCm39) |
R452T |
probably benign |
Het |
| Col6a2 |
G |
A |
10: 76,435,509 (GRCm39) |
Q909* |
probably null |
Het |
| Cyp2j8 |
A |
G |
4: 96,358,890 (GRCm39) |
I343T |
probably damaging |
Het |
| Dcstamp |
G |
A |
15: 39,617,798 (GRCm39) |
C69Y |
possibly damaging |
Het |
| Dnaaf8 |
C |
A |
16: 4,791,940 (GRCm39) |
|
noncoding transcript |
Het |
| Efhc1 |
C |
T |
1: 21,043,104 (GRCm39) |
T341I |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,338,772 (GRCm39) |
*276Q |
probably null |
Het |
| Fnip1 |
T |
A |
11: 54,380,168 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
G |
13: 31,991,573 (GRCm39) |
H128R |
probably damaging |
Het |
| Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Kif15 |
A |
T |
9: 122,807,081 (GRCm39) |
Q44H |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,283,917 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,400,975 (GRCm39) |
I530T |
unknown |
Het |
| Ncoa4-ps |
T |
A |
12: 119,225,957 (GRCm39) |
|
noncoding transcript |
Het |
| Nherf2 |
A |
G |
17: 24,860,798 (GRCm39) |
V137A |
probably benign |
Het |
| Nudt7 |
C |
A |
8: 114,874,723 (GRCm39) |
A93D |
probably damaging |
Het |
| Or5w1b |
T |
C |
2: 87,476,063 (GRCm39) |
I135V |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,126,024 (GRCm39) |
T169A |
possibly damaging |
Het |
| Prnp |
A |
G |
2: 131,778,951 (GRCm39) |
D201G |
probably damaging |
Het |
| Serinc1 |
G |
A |
10: 57,400,147 (GRCm39) |
Q167* |
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,152,865 (GRCm39) |
V35A |
probably damaging |
Het |
| Slc30a6 |
C |
T |
17: 74,719,700 (GRCm39) |
T220I |
possibly damaging |
Het |
| Slc7a7 |
T |
A |
14: 54,646,269 (GRCm39) |
M65L |
probably benign |
Het |
| Speg |
T |
A |
1: 75,403,700 (GRCm39) |
L2627Q |
probably damaging |
Het |
| Tank |
A |
G |
2: 61,480,552 (GRCm39) |
T363A |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,389,029 (GRCm39) |
L478Q |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,795,773 (GRCm39) |
V118A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,600,803 (GRCm39) |
Y17114N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,474,291 (GRCm39) |
T214A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,308,414 (GRCm39) |
V2021E |
probably damaging |
Het |
| Utp4 |
G |
A |
8: 107,649,557 (GRCm39) |
D669N |
probably benign |
Het |
| Zfp560 |
G |
T |
9: 20,261,883 (GRCm39) |
Y89* |
probably null |
Het |
| Zfp64 |
A |
G |
2: 168,767,642 (GRCm39) |
S657P |
probably benign |
Het |
|
| Other mutations in Trim55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02948:Trim55
|
APN |
3 |
19,725,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03095:Trim55
|
APN |
3 |
19,728,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03411:Trim55
|
APN |
3 |
19,713,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0011:Trim55
|
UTSW |
3 |
19,725,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0021:Trim55
|
UTSW |
3 |
19,698,866 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0021:Trim55
|
UTSW |
3 |
19,698,866 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0194:Trim55
|
UTSW |
3 |
19,716,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0437:Trim55
|
UTSW |
3 |
19,725,142 (GRCm39) |
missense |
probably benign |
|
|
R0450:Trim55
|
UTSW |
3 |
19,725,256 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0469:Trim55
|
UTSW |
3 |
19,725,256 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1029:Trim55
|
UTSW |
3 |
19,698,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1397:Trim55
|
UTSW |
3 |
19,698,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1928:Trim55
|
UTSW |
3 |
19,716,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2079:Trim55
|
UTSW |
3 |
19,698,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3856:Trim55
|
UTSW |
3 |
19,727,120 (GRCm39) |
missense |
probably benign |
|
|
R4646:Trim55
|
UTSW |
3 |
19,725,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4907:Trim55
|
UTSW |
3 |
19,728,538 (GRCm39) |
missense |
probably benign |
|
|
R5090:Trim55
|
UTSW |
3 |
19,725,771 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6370:Trim55
|
UTSW |
3 |
19,745,650 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6658:Trim55
|
UTSW |
3 |
19,745,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6786:Trim55
|
UTSW |
3 |
19,726,938 (GRCm39) |
missense |
probably benign |
|
|
R8147:Trim55
|
UTSW |
3 |
19,727,011 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8524:Trim55
|
UTSW |
3 |
19,725,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8824:Trim55
|
UTSW |
3 |
19,727,126 (GRCm39) |
missense |
probably benign |
|
|
R8974:Trim55
|
UTSW |
3 |
19,699,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8977:Trim55
|
UTSW |
3 |
19,713,341 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9283:Trim55
|
UTSW |
3 |
19,699,612 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9302:Trim55
|
UTSW |
3 |
19,727,153 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9380:Trim55
|
UTSW |
3 |
19,728,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9657:Trim55
|
UTSW |
3 |
19,728,671 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9732:Trim55
|
UTSW |
3 |
19,716,039 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9758:Trim55
|
UTSW |
3 |
19,699,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGCAGATGGAGATTTGTCAGC -3'
(R):5'- TGGTCACATGGAGCTAACTCAC -3'
Sequencing Primer
(F):5'- CAGATGGAGATTTGTCAGCACTTCTC -3'
(R):5'- GTCACATGGAGCTAACTCACTAGTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation