Incidental Mutation 'R8524:Trim55'
| ID |
658703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim55
|
| Ensembl Gene |
ENSMUSG00000060913 |
| Gene Name |
tripartite motif-containing 55 |
| Synonyms |
Murf2, D830041C10Rik |
| MMRRC Submission |
067949-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
19698638-19746585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19725113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 210
(D210V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029139]
|
| AlphaFold |
G3X8Y1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029139
AA Change: D210V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
AA Change: D210V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (41/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc65 |
A |
T |
15: 98,606,990 (GRCm39) |
T66S |
probably benign |
Het |
| Cers1 |
G |
A |
8: 70,783,898 (GRCm39) |
G282D |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Col25a1 |
C |
A |
3: 130,342,873 (GRCm39) |
P350H |
probably damaging |
Het |
| Coq5 |
T |
C |
5: 115,422,612 (GRCm39) |
I172T |
probably damaging |
Het |
| Dand5 |
A |
T |
8: 85,549,056 (GRCm39) |
L85* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,934,472 (GRCm39) |
W1486R |
possibly damaging |
Het |
| Dpp8 |
T |
C |
9: 64,950,989 (GRCm39) |
Y142H |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gng7 |
T |
A |
10: 80,787,537 (GRCm39) |
H42L |
possibly damaging |
Het |
| Gps2 |
T |
C |
11: 69,805,832 (GRCm39) |
V93A |
probably damaging |
Het |
| Hspa9 |
T |
C |
18: 35,087,297 (GRCm39) |
S3G |
unknown |
Het |
| Impg2 |
A |
G |
16: 56,038,757 (GRCm39) |
N132D |
probably benign |
Het |
| Jak2 |
A |
T |
19: 29,273,105 (GRCm39) |
N643I |
probably damaging |
Het |
| Kcng2 |
T |
C |
18: 80,338,896 (GRCm39) |
D464G |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,706,384 (GRCm39) |
C833S |
probably damaging |
Het |
| Ly86 |
G |
A |
13: 37,560,869 (GRCm39) |
D77N |
probably damaging |
Het |
| Map7 |
G |
A |
10: 20,142,569 (GRCm39) |
A330T |
probably benign |
Het |
| Mettl1 |
T |
C |
10: 126,877,908 (GRCm39) |
S21P |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,771,997 (GRCm39) |
Y1540C |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,183,840 (GRCm39) |
L300P |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,392,895 (GRCm39) |
M3222T |
probably benign |
Het |
| Nat8f6 |
A |
G |
6: 85,785,541 (GRCm39) |
Y203H |
probably benign |
Het |
| Nod1 |
C |
T |
6: 54,925,060 (GRCm39) |
E84K |
probably damaging |
Het |
| Or10v9 |
A |
G |
19: 11,832,445 (GRCm39) |
Y291H |
probably damaging |
Het |
| Or2b28 |
T |
C |
13: 21,531,248 (GRCm39) |
V50A |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,961 (GRCm39) |
Y218C |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,677,006 (GRCm39) |
N598S |
possibly damaging |
Het |
| Pclo |
C |
T |
5: 14,729,521 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
T |
G |
4: 134,013,921 (GRCm39) |
E12D |
probably benign |
Het |
| Plcg1 |
G |
A |
2: 160,603,387 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
A |
G |
9: 89,797,638 (GRCm39) |
H172R |
possibly damaging |
Het |
| Rnf41 |
C |
G |
10: 128,271,299 (GRCm39) |
R70G |
possibly damaging |
Het |
| Rsbn1 |
A |
T |
3: 103,835,687 (GRCm39) |
K203* |
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,901,969 (GRCm39) |
D566G |
probably damaging |
Het |
| Slc7a14 |
A |
C |
3: 31,278,282 (GRCm39) |
V441G |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,885,370 (GRCm39) |
N2077I |
probably damaging |
Het |
| Spryd3 |
G |
A |
15: 102,026,583 (GRCm39) |
R363* |
probably null |
Het |
| St6galnac1 |
G |
T |
11: 116,658,547 (GRCm39) |
R306S |
possibly damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Trim35 |
C |
T |
14: 66,544,493 (GRCm39) |
R276C |
probably damaging |
Het |
| Tsg101 |
A |
T |
7: 46,542,115 (GRCm39) |
D279E |
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 |
|
R5562:Trim55
|
UTSW |
3 |
19,713,317 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
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'- CAGGTGGTGACTATTATGGAATTTCAG -3'
(R):5'- TGGATTCCTGACTCCACCAAC -3'
Sequencing Primer
(F):5'- CAGAAAGTTAAACAATGATATTCCGC -3'
(R):5'- AACTTGGATACGTTCTCCAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation