Incidental Mutation 'R1029:Trim55'
| ID |
95115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim55
|
| Ensembl Gene |
ENSMUSG00000060913 |
| Gene Name |
tripartite motif-containing 55 |
| Synonyms |
Murf2, D830041C10Rik |
| MMRRC Submission |
039131-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
19698638-19746585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19698906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 45
(N45S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029139]
|
| AlphaFold |
G3X8Y1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029139
AA Change: N45S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
AA Change: N45S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195744
|
| Meta Mutation Damage Score |
0.1478 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
92% (36/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,376,177 (GRCm39) |
L230S |
probably damaging |
Het |
| 4930505A04Rik |
A |
G |
11: 30,396,389 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,602,032 (GRCm39) |
I1648T |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,394,817 (GRCm39) |
F236S |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,230,782 (GRCm39) |
D363G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
| Cog7 |
C |
T |
7: 121,529,752 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
G |
1: 46,651,881 (GRCm39) |
K1365E |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,837,096 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
T |
A |
17: 74,123,321 (GRCm39) |
I108N |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,348,773 (GRCm39) |
S535P |
probably damaging |
Het |
| Fam170a |
T |
C |
18: 50,414,741 (GRCm39) |
V129A |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,823,892 (GRCm39) |
T361A |
probably benign |
Het |
| Gm10295 |
A |
T |
7: 71,000,448 (GRCm39) |
I44K |
unknown |
Het |
| Gm10553 |
T |
C |
1: 85,078,170 (GRCm39) |
S96P |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Hspa13 |
A |
T |
16: 75,562,125 (GRCm39) |
Y25N |
probably damaging |
Het |
| Lrfn3 |
G |
A |
7: 30,055,347 (GRCm39) |
P533S |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,317,372 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,911,639 (GRCm39) |
D1991G |
probably benign |
Het |
| Myoz1 |
A |
G |
14: 20,700,600 (GRCm39) |
Y206H |
probably damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,431 (GRCm39) |
I21F |
probably benign |
Het |
| Otog |
A |
G |
7: 45,924,019 (GRCm39) |
E1126G |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,472,613 (GRCm39) |
|
probably benign |
Het |
| Pttg1ip2 |
C |
T |
5: 5,505,919 (GRCm39) |
A121T |
probably benign |
Het |
| Rab7 |
A |
G |
6: 87,990,624 (GRCm39) |
S17P |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,765,514 (GRCm39) |
S203P |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,439 (GRCm39) |
I314T |
possibly damaging |
Het |
| Tgs1 |
T |
C |
4: 3,593,471 (GRCm39) |
I453T |
probably damaging |
Het |
| Tmem117 |
C |
A |
15: 94,909,217 (GRCm39) |
T210N |
probably benign |
Het |
| Ugt2b34 |
G |
C |
5: 87,052,246 (GRCm39) |
S250* |
probably null |
Het |
| Vmn2r67 |
G |
A |
7: 84,785,974 (GRCm39) |
T677I |
probably damaging |
Het |
| Zfp335 |
C |
G |
2: 164,734,598 (GRCm39) |
|
probably benign |
Het |
| Znrf1 |
T |
A |
8: 112,263,986 (GRCm39) |
Y72N |
probably damaging |
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 |
|
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 |
|
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'- GGAACCACTTACAGAAGCCGTTCG -3'
(R):5'- AGCAAGAGCATTTTACCCCTGCC -3'
Sequencing Primer
(F):5'- GGAGCACCTTTCCCTTGG -3'
(R):5'- GAGTTCCAACCTGAAGTTCCAATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation