Incidental Mutation 'IGL03228:Trim75'
| ID |
413790 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim75
|
| Ensembl Gene |
ENSMUSG00000071089 |
| Gene Name |
tripartite motif-containing 75 |
| Synonyms |
LOC333307 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
IGL03228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
65434303-65440296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65436006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 148
(L148P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095295]
[ENSMUST00000210982]
|
| AlphaFold |
Q3UWZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095295
AA Change: L148P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000092932
Gene: ENSMUSG00000071089
AA Change: L148P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
5.1e-11 |
SMART |
|
BBOX
|
90 |
131 |
1.61e-8 |
SMART |
|
coiled coil region
|
166 |
199 |
N/A |
INTRINSIC |
|
PRY
|
293 |
344 |
2.12e-8 |
SMART |
|
Pfam:SPRY
|
347 |
459 |
3.9e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210982
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid3a |
G |
A |
10: 79,786,578 (GRCm39) |
V444I |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,397,650 (GRCm39) |
Y1021C |
probably damaging |
Het |
| Cbx1 |
A |
G |
11: 96,691,631 (GRCm39) |
|
probably benign |
Het |
| Cdk15 |
G |
T |
1: 59,297,912 (GRCm39) |
K106N |
possibly damaging |
Het |
| Itpkb |
A |
T |
1: 180,241,564 (GRCm39) |
R745W |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,117,708 (GRCm39) |
I682F |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,477,763 (GRCm39) |
E435V |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,494,817 (GRCm39) |
Y296F |
possibly damaging |
Het |
| Ltb4r2 |
A |
T |
14: 55,999,408 (GRCm39) |
N10Y |
probably damaging |
Het |
| Mmrn1 |
C |
T |
6: 60,921,876 (GRCm39) |
P111L |
probably benign |
Het |
| Nt5c |
A |
G |
11: 115,381,987 (GRCm39) |
Y107H |
probably damaging |
Het |
| Or2m12 |
A |
C |
16: 19,105,140 (GRCm39) |
L118V |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,330 (GRCm39) |
I201N |
possibly damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,050 (GRCm39) |
F251L |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,186,133 (GRCm39) |
S1679C |
probably damaging |
Het |
| Plac8l1 |
T |
A |
18: 42,325,672 (GRCm39) |
S78C |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,485,942 (GRCm39) |
I549N |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Slc6a20b |
G |
T |
9: 123,461,197 (GRCm39) |
Y65* |
probably null |
Het |
| Stx11 |
G |
A |
10: 12,816,956 (GRCm39) |
T256M |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,026,686 (GRCm39) |
C3505R |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,156,909 (GRCm39) |
N2311K |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,249 (GRCm39) |
H268R |
probably damaging |
Het |
|
| Other mutations in Trim75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01337:Trim75
|
APN |
8 |
65,436,387 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02959:Trim75
|
APN |
8 |
65,435,417 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03026:Trim75
|
APN |
8 |
65,436,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03155:Trim75
|
APN |
8 |
65,435,992 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03241:Trim75
|
APN |
8 |
65,435,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Trim75
|
UTSW |
8 |
65,435,580 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0413:Trim75
|
UTSW |
8 |
65,435,892 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0523:Trim75
|
UTSW |
8 |
65,436,442 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1675:Trim75
|
UTSW |
8 |
65,435,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1721:Trim75
|
UTSW |
8 |
65,435,391 (GRCm39) |
splice site |
probably null |
|
|
R3861:Trim75
|
UTSW |
8 |
65,435,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4196:Trim75
|
UTSW |
8 |
65,435,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4469:Trim75
|
UTSW |
8 |
65,436,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Trim75
|
UTSW |
8 |
65,435,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Trim75
|
UTSW |
8 |
65,435,091 (GRCm39) |
splice site |
probably null |
|
|
R6046:Trim75
|
UTSW |
8 |
65,435,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6227:Trim75
|
UTSW |
8 |
65,435,748 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6254:Trim75
|
UTSW |
8 |
65,436,094 (GRCm39) |
nonsense |
probably null |
|
|
R6444:Trim75
|
UTSW |
8 |
65,435,488 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7363:Trim75
|
UTSW |
8 |
65,435,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Trim75
|
UTSW |
8 |
65,435,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Trim75
|
UTSW |
8 |
65,435,315 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9453:Trim75
|
UTSW |
8 |
65,436,561 (GRCm39) |
start gained |
probably benign |
|
|
X0019:Trim75
|
UTSW |
8 |
65,436,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Trim75
|
UTSW |
8 |
65,435,593 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Trim75
|
UTSW |
8 |
65,435,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation