Incidental Mutation 'R0694:Trim50'
| ID |
63425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim50
|
| Ensembl Gene |
ENSMUSG00000053388 |
| Gene Name |
tripartite motif-containing 50 |
| Synonyms |
|
| MMRRC Submission |
038879-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0694 (G1)
|
| Quality Score |
94 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135382149-135396859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135382399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 84
(I84L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044972]
[ENSMUST00000065785]
[ENSMUST00000111180]
[ENSMUST00000201534]
[ENSMUST00000201784]
[ENSMUST00000201791]
|
| AlphaFold |
Q810I2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044972
|
| SMART Domains |
Protein: ENSMUSP00000043193
Gene: ENSMUSG00000040013
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
48 |
140 |
3.5e-20 |
PFAM |
|
Blast:TPR
|
171 |
195 |
1e-7 |
BLAST |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
Pfam:TPR_2
|
220 |
252 |
3.3e-4 |
PFAM |
|
Pfam:TPR_2
|
253 |
284 |
5.4e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065785
AA Change: I84L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388
AA Change: I84L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
7.92e-8 |
SMART |
|
BBOX
|
84 |
125 |
3.34e-6 |
SMART |
|
coiled coil region
|
128 |
163 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
235 |
N/A |
INTRINSIC |
|
PRY
|
292 |
344 |
1.07e-13 |
SMART |
|
SPRY
|
345 |
473 |
7.48e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111180
AA Change: I84L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388
AA Change: I84L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
7.92e-8 |
SMART |
|
BBOX
|
84 |
125 |
3.34e-6 |
SMART |
|
coiled coil region
|
128 |
163 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
235 |
N/A |
INTRINSIC |
|
PRY
|
293 |
345 |
1.07e-13 |
SMART |
|
SPRY
|
346 |
474 |
7.48e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201534
|
| SMART Domains |
Protein: ENSMUSP00000144471
Gene: ENSMUSG00000040013
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
48 |
140 |
3.5e-20 |
PFAM |
|
Blast:TPR
|
171 |
195 |
1e-7 |
BLAST |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
Pfam:TPR_2
|
220 |
252 |
3.3e-4 |
PFAM |
|
Pfam:TPR_2
|
253 |
284 |
5.4e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201784
|
| SMART Domains |
Protein: ENSMUSP00000144381
Gene: ENSMUSG00000040013
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
48 |
140 |
7.6e-20 |
PFAM |
|
Blast:TPR
|
171 |
195 |
1e-7 |
BLAST |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
Pfam:TPR_2
|
220 |
252 |
1.3e-4 |
PFAM |
|
Pfam:TPR_2
|
253 |
284 |
2.1e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201791
|
| SMART Domains |
Protein: ENSMUSP00000144460
Gene: ENSMUSG00000040013
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
48 |
140 |
5.9e-20 |
PFAM |
|
low complexity region
|
153 |
166 |
N/A |
INTRINSIC |
|
Pfam:TPR_2
|
180 |
212 |
1.1e-4 |
PFAM |
|
Pfam:TPR_2
|
213 |
244 |
1.8e-4 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired secretion of gastric acid with impaired stimulated tubulovesicular dynamics. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
C |
T |
13: 14,362,419 (GRCm39) |
T961I |
probably damaging |
Het |
| Asb13 |
G |
T |
13: 3,699,480 (GRCm39) |
A227S |
probably benign |
Het |
| Atp6v1g1 |
C |
T |
4: 63,468,230 (GRCm39) |
R78W |
probably benign |
Het |
| Bglap2 |
C |
T |
3: 88,285,723 (GRCm39) |
D31N |
possibly damaging |
Het |
| Dsn1 |
T |
C |
2: 156,847,789 (GRCm39) |
T2A |
possibly damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,128,423 (GRCm39) |
I248N |
probably damaging |
Het |
| Fbxo39 |
G |
A |
11: 72,209,295 (GRCm39) |
R385Q |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,844,424 (GRCm39) |
N284S |
probably damaging |
Het |
| Hus1 |
C |
T |
11: 8,957,531 (GRCm39) |
W144* |
probably null |
Het |
| Kcna1 |
T |
C |
6: 126,619,208 (GRCm39) |
T371A |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,586,501 (GRCm39) |
N2510I |
probably damaging |
Het |
| Ptprn2 |
G |
T |
12: 116,787,975 (GRCm39) |
A105S |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sema6d |
T |
C |
2: 124,505,961 (GRCm39) |
S633P |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,927,711 (GRCm39) |
N362S |
probably damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,921 (GRCm39) |
W126* |
probably null |
Het |
| Trpc3 |
A |
T |
3: 36,725,704 (GRCm39) |
F91I |
possibly damaging |
Het |
| Zfp804a |
A |
G |
2: 81,884,148 (GRCm39) |
Y5C |
probably damaging |
Het |
|
| Other mutations in Trim50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01357:Trim50
|
APN |
5 |
135,392,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01565:Trim50
|
APN |
5 |
135,396,355 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01768:Trim50
|
APN |
5 |
135,392,736 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03394:Trim50
|
APN |
5 |
135,392,807 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB004:Trim50
|
UTSW |
5 |
135,382,465 (GRCm39) |
missense |
probably benign |
|
|
BB014:Trim50
|
UTSW |
5 |
135,382,465 (GRCm39) |
missense |
probably benign |
|
|
PIT4498001:Trim50
|
UTSW |
5 |
135,382,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Trim50
|
UTSW |
5 |
135,395,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Trim50
|
UTSW |
5 |
135,382,355 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1806:Trim50
|
UTSW |
5 |
135,387,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4688:Trim50
|
UTSW |
5 |
135,395,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5034:Trim50
|
UTSW |
5 |
135,396,147 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5334:Trim50
|
UTSW |
5 |
135,396,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:Trim50
|
UTSW |
5 |
135,396,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Trim50
|
UTSW |
5 |
135,396,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Trim50
|
UTSW |
5 |
135,382,516 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6119:Trim50
|
UTSW |
5 |
135,382,274 (GRCm39) |
missense |
probably benign |
|
|
R6377:Trim50
|
UTSW |
5 |
135,382,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7170:Trim50
|
UTSW |
5 |
135,396,365 (GRCm39) |
missense |
probably benign |
|
|
R7175:Trim50
|
UTSW |
5 |
135,382,151 (GRCm39) |
start codon destroyed |
probably null |
0.81 |
|
R7498:Trim50
|
UTSW |
5 |
135,392,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7927:Trim50
|
UTSW |
5 |
135,382,465 (GRCm39) |
missense |
probably benign |
|
|
R7945:Trim50
|
UTSW |
5 |
135,382,156 (GRCm39) |
missense |
probably benign |
|
|
R8403:Trim50
|
UTSW |
5 |
135,392,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9117:Trim50
|
UTSW |
5 |
135,382,537 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9648:Trim50
|
UTSW |
5 |
135,395,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACTGCAAGGACTGCCTGGATAAC -3'
(R):5'- AAAAGTCTGGCAAGGGACTCGC -3'
Sequencing Primer
(F):5'- TGGATAACTTGTCCCAACACCTG -3'
(R):5'- cactgacttccacaaaatgtcc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation