Incidental Mutation 'R1303:Trim46'
| ID |
158470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim46
|
| Ensembl Gene |
ENSMUSG00000042766 |
| Gene Name |
tripartite motif-containing 46 |
| Synonyms |
TRIFIC |
| MMRRC Submission |
039369-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R1303 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89141484-89153616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89149515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 290
(T290S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119270
(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
AA Change: T290S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: T290S
| 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: T277S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766
AA Change: T277S
| 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: T267S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: T267S
| 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: ENSMUST00000139419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143637
AA Change: T290S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766
AA Change: T290S
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfy1 |
A |
G |
11: 72,640,897 (GRCm39) |
|
probably null |
Het |
| Fubp3 |
T |
A |
2: 31,490,532 (GRCm39) |
L212H |
probably damaging |
Het |
| Hecw2 |
G |
T |
1: 54,079,552 (GRCm39) |
Q34K |
probably benign |
Het |
| Ifnlr1 |
T |
C |
4: 135,431,528 (GRCm39) |
I239T |
possibly damaging |
Het |
| Kcnh1 |
T |
C |
1: 191,959,010 (GRCm39) |
L188P |
probably damaging |
Het |
| Nbl1 |
A |
G |
4: 138,812,778 (GRCm39) |
S52P |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,733,948 (GRCm39) |
E113G |
probably damaging |
Het |
| Psd4 |
T |
C |
2: 24,285,030 (GRCm39) |
V298A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,120,390 (GRCm39) |
T237A |
possibly damaging |
Het |
| Trpc2 |
T |
C |
7: 101,737,368 (GRCm39) |
S387P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACTGCCCGCTAATTCAGAC -3'
(R):5'- ACAAGGAAGAGGTGACCCACTACTG -3'
Sequencing Primer
(F):5'- CAACAGAAGGTGCTTGTTCC -3'
(R):5'- GATCACACCAGTGCTCAGTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation