Incidental Mutation 'R1397:Trim55'
| ID |
160176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim55
|
| Ensembl Gene |
ENSMUSG00000060913 |
| Gene Name |
tripartite motif-containing 55 |
| Synonyms |
Murf2, D830041C10Rik |
| MMRRC Submission |
039459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1397 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
19698638-19746585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19698801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 10
(F10S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029139]
|
| AlphaFold |
G3X8Y1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029139
AA Change: F10S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
AA Change: F10S
| 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 |
0.0731 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.0%
|
| Validation Efficiency |
98% (59/60) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,504,733 (GRCm39) |
E1222G |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,220,440 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,271,754 (GRCm39) |
G827D |
probably damaging |
Het |
| Chrac1 |
A |
G |
15: 72,962,293 (GRCm39) |
D3G |
possibly damaging |
Het |
| Dmrtb1 |
G |
C |
4: 107,534,236 (GRCm39) |
P349R |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,207,573 (GRCm39) |
Y207H |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,569,343 (GRCm39) |
|
probably null |
Het |
| Fam13b |
C |
T |
18: 34,578,636 (GRCm39) |
M705I |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,768,673 (GRCm39) |
I1409T |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,651,862 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,245,618 (GRCm39) |
D569V |
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,083,464 (GRCm39) |
L189Q |
probably damaging |
Het |
| Mfsd11 |
T |
C |
11: 116,764,123 (GRCm39) |
F368S |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,955 (GRCm39) |
V3343F |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,410,274 (GRCm39) |
S130P |
probably benign |
Het |
| Nid1 |
G |
A |
13: 13,683,380 (GRCm39) |
A1153T |
possibly damaging |
Het |
| Nr2c2 |
T |
C |
6: 92,126,745 (GRCm39) |
I78T |
probably benign |
Het |
| Nrp1 |
T |
G |
8: 129,145,197 (GRCm39) |
Y84* |
probably null |
Het |
| Pate2 |
T |
A |
9: 35,580,991 (GRCm39) |
F2I |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,585,496 (GRCm39) |
S18P |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,365,106 (GRCm39) |
T155S |
probably benign |
Het |
| Rabl3 |
C |
T |
16: 37,360,336 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,155,753 (GRCm39) |
V66I |
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,325,308 (GRCm39) |
G367E |
probably benign |
Het |
| Rnpepl1 |
C |
A |
1: 92,844,881 (GRCm39) |
T391N |
probably damaging |
Het |
| Rnps1 |
C |
T |
17: 24,631,031 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Slc25a48 |
A |
C |
13: 56,612,864 (GRCm39) |
D254A |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,291,012 (GRCm39) |
C659* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31d1a |
C |
T |
13: 59,852,853 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
A |
C |
4: 135,048,742 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,523 (GRCm39) |
V247A |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,857,901 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,217,750 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,247,674 (GRCm39) |
I341F |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,867,406 (GRCm39) |
W369R |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,867,904 (GRCm39) |
R1976H |
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 |
|
R1029:Trim55
|
UTSW |
3 |
19,698,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTCTTACTCCCCAGGGCAAGAATG -3'
(R):5'- ACAGGGACACTCTACAGCTTCCAG -3'
Sequencing Primer
(F):5'- CTTGGGTTGCTAAAAACAGCTCC -3'
(R):5'- GACACTCTACAGCTTCCAGATTCC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation