Incidental Mutation 'IGL01565:Trim50'
| ID |
90950 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim50
|
| Ensembl Gene |
ENSMUSG00000053388 |
| Gene Name |
tripartite motif-containing 50 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135382149-135396859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135396355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 434
(D434E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000940]
[ENSMUST00000065785]
[ENSMUST00000111180]
[ENSMUST00000170342]
|
| AlphaFold |
Q810I2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000940
|
| SMART Domains |
Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
189 |
N/A |
INTRINSIC |
|
Pfam:Nol1_Nop2_Fmu
|
219 |
423 |
1.1e-32 |
PFAM |
|
low complexity region
|
448 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065785
AA Change: D433E
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388
AA Change: D433E
| 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: D434E
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388
AA Change: D434E
| 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 |
noncoding transcript
Transcript: ENSMUST00000126454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170342
|
| SMART Domains |
Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202792
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202422
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
| Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
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 |
|
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 |
|
R0694:Trim50
|
UTSW |
5 |
135,382,399 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation