Incidental Mutation 'IGL02082:Trim46'
| ID |
283399 |
| 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 # |
IGL02082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89141484-89153616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89146307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 395
(A395S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041022]
[ENSMUST00000090924]
[ENSMUST00000107464]
[ENSMUST00000143637]
|
| AlphaFold |
Q7TNM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041022
AA Change: A395S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: A395S
| 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
AA Change: A382S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766
AA Change: A382S
| 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
AA Change: A372S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: A372S
| 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 |
noncoding transcript
Transcript: ENSMUST00000139419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143637
AA Change: A395S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766
AA Change: A395S
| 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 |
|
| 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 |
|---|
| Atp9b |
A |
C |
18: 80,935,145 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
C |
1: 146,627,600 (GRCm39) |
C278R |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,917,320 (GRCm39) |
S47G |
unknown |
Het |
| Clec16a |
T |
C |
16: 10,432,432 (GRCm39) |
L484P |
probably damaging |
Het |
| Cnksr1 |
C |
A |
4: 133,963,363 (GRCm39) |
G71C |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,428,317 (GRCm39) |
N246I |
possibly damaging |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Focad |
C |
T |
4: 88,148,815 (GRCm39) |
Q511* |
probably null |
Het |
| Gpr63 |
A |
G |
4: 25,008,564 (GRCm39) |
|
probably benign |
Het |
| Iah1 |
C |
A |
12: 21,367,405 (GRCm39) |
S37* |
probably null |
Het |
| Inpp4a |
T |
A |
1: 37,405,708 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
A |
T |
6: 88,865,218 (GRCm39) |
Y486* |
probably null |
Het |
| Mtmr10 |
A |
G |
7: 63,983,238 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,875,588 (GRCm39) |
L1694S |
possibly damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,590,159 (GRCm39) |
S4P |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,246,856 (GRCm39) |
E41V |
probably damaging |
Het |
| Slc17a6 |
G |
T |
7: 51,318,777 (GRCm39) |
R473L |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,970,198 (GRCm39) |
T2A |
probably benign |
Het |
| Tbc1d9b |
A |
G |
11: 50,054,709 (GRCm39) |
D951G |
probably benign |
Het |
| Tk1 |
C |
A |
11: 117,716,553 (GRCm39) |
|
probably null |
Het |
| Vmn1r113 |
C |
T |
7: 20,521,672 (GRCm39) |
H155Y |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,499 (GRCm39) |
M238T |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
|
| Other mutations in Trim46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00945:Trim46
|
APN |
3 |
89,151,725 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation