Incidental Mutation 'IGL03241:Trim75'
ID |
414285 |
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 # |
IGL03241
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
65434303-65440296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65435358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 364
(I364N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095295]
[ENSMUST00000210982]
|
AlphaFold |
Q3UWZ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095295
AA Change: I364N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092932 Gene: ENSMUSG00000071089 AA Change: I364N
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
A |
8: 87,236,436 (GRCm39) |
E1126V |
possibly damaging |
Het |
Acnat1 |
A |
G |
4: 49,447,702 (GRCm39) |
V275A |
probably benign |
Het |
Adamts15 |
G |
A |
9: 30,815,781 (GRCm39) |
P692S |
probably damaging |
Het |
Aqp7 |
A |
T |
4: 41,045,270 (GRCm39) |
|
probably benign |
Het |
Arhgap26 |
A |
T |
18: 39,362,970 (GRCm39) |
I413F |
probably damaging |
Het |
Cdc25a |
T |
C |
9: 109,713,267 (GRCm39) |
|
probably null |
Het |
Cdh18 |
C |
T |
15: 23,227,019 (GRCm39) |
T160I |
probably benign |
Het |
Cfap206 |
T |
C |
4: 34,711,553 (GRCm39) |
Y448C |
probably damaging |
Het |
Clec4a4 |
T |
C |
6: 122,967,332 (GRCm39) |
S3P |
probably damaging |
Het |
Dhx38 |
A |
T |
8: 110,289,288 (GRCm39) |
H37Q |
possibly damaging |
Het |
F7 |
A |
T |
8: 13,078,779 (GRCm39) |
E70V |
probably damaging |
Het |
Nbeal1 |
A |
T |
1: 60,274,027 (GRCm39) |
Q418H |
possibly damaging |
Het |
Nbeal1 |
G |
A |
1: 60,274,028 (GRCm39) |
E419K |
probably benign |
Het |
Nebl |
A |
G |
2: 17,397,975 (GRCm39) |
|
probably null |
Het |
Or4k15b |
T |
A |
14: 50,272,525 (GRCm39) |
M112L |
possibly damaging |
Het |
Pfkm |
T |
C |
15: 98,021,061 (GRCm39) |
V293A |
probably benign |
Het |
Slc36a3 |
A |
G |
11: 55,015,934 (GRCm39) |
S407P |
possibly damaging |
Het |
Slc5a1 |
T |
C |
5: 33,290,749 (GRCm39) |
V111A |
probably benign |
Het |
St6galnac5 |
G |
T |
3: 152,552,223 (GRCm39) |
Q115K |
probably benign |
Het |
Tex56 |
G |
T |
13: 35,128,313 (GRCm39) |
A177S |
probably damaging |
Het |
Timmdc1 |
G |
A |
16: 38,331,071 (GRCm39) |
|
probably benign |
Het |
Trim34b |
T |
C |
7: 103,983,820 (GRCm39) |
|
probably benign |
Het |
Vmn1r27 |
T |
A |
6: 58,192,126 (GRCm39) |
N293Y |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,655,830 (GRCm39) |
T689A |
probably benign |
Het |
Vmn2r97 |
T |
C |
17: 19,148,438 (GRCm39) |
V111A |
probably benign |
Het |
Zfp114 |
C |
T |
7: 23,880,437 (GRCm39) |
T261I |
probably benign |
Het |
Zfp516 |
A |
G |
18: 83,005,645 (GRCm39) |
T850A |
probably benign |
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 |
IGL03228:Trim75
|
APN |
8 |
65,436,006 (GRCm39) |
missense |
probably benign |
0.00 |
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 |