Incidental Mutation 'IGL00945:Trim46'
ID |
27118 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim46
|
Ensembl Gene |
ENSMUSG00000042766 |
Gene Name |
tripartite motif-containing 46 |
Synonyms |
TRIFIC |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.695)
|
Stock # |
IGL00945
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
89141484-89153616 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 89151725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130372
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040888]
[ENSMUST00000041022]
[ENSMUST00000090924]
[ENSMUST00000107464]
[ENSMUST00000125952]
[ENSMUST00000143637]
[ENSMUST00000168900]
|
AlphaFold |
Q7TNM2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040888
|
SMART Domains |
Protein: ENSMUSP00000043540 Gene: ENSMUSG00000042747
Domain | Start | End | E-Value | Type |
Pfam:Keratin_assoc
|
87 |
215 |
2.5e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041022
|
SMART Domains |
Protein: ENSMUSP00000036053 Gene: ENSMUSG00000042766
Domain | Start | End | E-Value | Type |
RING
|
33 |
133 |
1.92e-6 |
SMART |
BBOX
|
222 |
263 |
9.59e-7 |
SMART |
Blast:BBC
|
271 |
395 |
3e-13 |
BLAST |
FN3
|
430 |
515 |
2.03e-2 |
SMART |
low complexity region
|
561 |
571 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090924
|
SMART Domains |
Protein: ENSMUSP00000088442 Gene: ENSMUSG00000042766
Domain | Start | End | E-Value | Type |
RING
|
20 |
120 |
1.92e-6 |
SMART |
BBOX
|
209 |
250 |
9.59e-7 |
SMART |
Blast:BBC
|
258 |
382 |
8e-13 |
BLAST |
FN3
|
417 |
502 |
2.03e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107464
|
SMART Domains |
Protein: ENSMUSP00000103088 Gene: ENSMUSG00000042766
Domain | Start | End | E-Value | Type |
RING
|
10 |
110 |
1.92e-6 |
SMART |
BBOX
|
199 |
240 |
9.59e-7 |
SMART |
Blast:BBC
|
248 |
372 |
2e-13 |
BLAST |
FN3
|
407 |
492 |
2.03e-2 |
SMART |
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132818
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143637
|
SMART Domains |
Protein: ENSMUSP00000119270 Gene: ENSMUSG00000042766
Domain | Start | End | E-Value | Type |
RING
|
33 |
133 |
1.92e-6 |
SMART |
BBOX
|
222 |
263 |
9.59e-7 |
SMART |
Blast:BBC
|
270 |
391 |
4e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168900
|
SMART Domains |
Protein: ENSMUSP00000130372 Gene: ENSMUSG00000042747
Domain | Start | End | E-Value | Type |
Pfam:Keratin_assoc
|
1 |
134 |
1.2e-61 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
A |
G |
5: 35,994,364 (GRCm39) |
I101V |
probably damaging |
Het |
Aldh5a1 |
A |
G |
13: 25,110,141 (GRCm39) |
|
probably benign |
Het |
Arhgef28 |
A |
C |
13: 98,103,907 (GRCm39) |
L728R |
possibly damaging |
Het |
Dct |
G |
A |
14: 118,277,916 (GRCm39) |
T218M |
probably damaging |
Het |
Hcn2 |
C |
T |
10: 79,569,637 (GRCm39) |
R546* |
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Lap3 |
A |
G |
5: 45,662,115 (GRCm39) |
|
probably null |
Het |
Mettl16 |
C |
T |
11: 74,708,192 (GRCm39) |
H464Y |
probably benign |
Het |
Myh13 |
G |
A |
11: 67,238,832 (GRCm39) |
R725Q |
probably null |
Het |
Nf1 |
T |
C |
11: 79,360,629 (GRCm39) |
F1436L |
probably damaging |
Het |
Nod1 |
C |
T |
6: 54,921,571 (GRCm39) |
|
probably null |
Het |
Or6c215 |
A |
T |
10: 129,637,776 (GRCm39) |
V206E |
possibly damaging |
Het |
Pde5a |
T |
A |
3: 122,629,291 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,616,391 (GRCm39) |
Y168C |
probably benign |
Het |
Plod2 |
A |
G |
9: 92,466,549 (GRCm39) |
I170V |
probably benign |
Het |
Pop5 |
A |
G |
5: 115,378,618 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
Sema3f |
G |
A |
9: 107,562,721 (GRCm39) |
S420L |
probably benign |
Het |
Shtn1 |
C |
T |
19: 59,007,384 (GRCm39) |
E289K |
possibly damaging |
Het |
Smarca1 |
A |
T |
X: 46,947,178 (GRCm39) |
Y526* |
probably null |
Het |
Sptan1 |
T |
C |
2: 29,890,083 (GRCm39) |
|
probably benign |
Het |
St7l |
C |
A |
3: 104,833,798 (GRCm39) |
H486Q |
probably damaging |
Het |
Tcte1 |
C |
A |
17: 45,852,115 (GRCm39) |
F449L |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,866,086 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,640,193 (GRCm39) |
|
probably null |
Het |
Zc3h13 |
A |
G |
14: 75,567,587 (GRCm39) |
D960G |
probably damaging |
Het |
|
Other mutations in Trim46 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02082:Trim46
|
APN |
3 |
89,146,307 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02405:Trim46
|
APN |
3 |
89,149,792 (GRCm39) |
missense |
probably benign |
0.09 |
hippocampus
|
UTSW |
3 |
89,153,020 (GRCm39) |
critical splice donor site |
probably null |
|
R0107:Trim46
|
UTSW |
3 |
89,143,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:Trim46
|
UTSW |
3 |
89,152,420 (GRCm39) |
unclassified |
probably benign |
|
R0330:Trim46
|
UTSW |
3 |
89,143,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R1303:Trim46
|
UTSW |
3 |
89,149,515 (GRCm39) |
missense |
probably benign |
0.03 |
R1436:Trim46
|
UTSW |
3 |
89,150,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R1458:Trim46
|
UTSW |
3 |
89,142,375 (GRCm39) |
splice site |
probably null |
|
R1990:Trim46
|
UTSW |
3 |
89,145,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Trim46
|
UTSW |
3 |
89,145,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Trim46
|
UTSW |
3 |
89,145,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Trim46
|
UTSW |
3 |
89,142,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R3729:Trim46
|
UTSW |
3 |
89,142,256 (GRCm39) |
missense |
probably benign |
|
R3730:Trim46
|
UTSW |
3 |
89,142,256 (GRCm39) |
missense |
probably benign |
|
R4603:Trim46
|
UTSW |
3 |
89,150,958 (GRCm39) |
missense |
probably benign |
0.11 |
R6648:Trim46
|
UTSW |
3 |
89,142,549 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6962:Trim46
|
UTSW |
3 |
89,146,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7761:Trim46
|
UTSW |
3 |
89,149,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R7905:Trim46
|
UTSW |
3 |
89,151,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R8228:Trim46
|
UTSW |
3 |
89,142,255 (GRCm39) |
missense |
probably benign |
|
R8307:Trim46
|
UTSW |
3 |
89,151,223 (GRCm39) |
missense |
probably benign |
0.12 |
R8509:Trim46
|
UTSW |
3 |
89,153,020 (GRCm39) |
critical splice donor site |
probably null |
|
R8958:Trim46
|
UTSW |
3 |
89,143,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R8992:Trim46
|
UTSW |
3 |
89,143,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R9208:Trim46
|
UTSW |
3 |
89,142,466 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9786:Trim46
|
UTSW |
3 |
89,142,399 (GRCm39) |
missense |
probably damaging |
1.00 |
X0021:Trim46
|
UTSW |
3 |
89,151,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |