Incidental Mutation 'R8228:Trim46'
| ID |
637046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim46
|
| Ensembl Gene |
ENSMUSG00000042766 |
| Gene Name |
tripartite motif-containing 46 |
| Synonyms |
TRIFIC |
| MMRRC Submission |
067661-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R8228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89141484-89153616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89142255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 744
(T744N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041022]
[ENSMUST00000041142]
[ENSMUST00000090924]
[ENSMUST00000107464]
[ENSMUST00000143637]
|
| AlphaFold |
Q7TNM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041022
AA Change: T744N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: T744N
| 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: ENSMUST00000041142
|
| SMART Domains |
Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
46 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
48 |
106 |
4.93e-6 |
PROSPERO |
|
internal_repeat_1
|
79 |
151 |
3.46e-38 |
PROSPERO |
|
low complexity region
|
153 |
181 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
183 |
254 |
3.46e-38 |
PROSPERO |
|
internal_repeat_2
|
192 |
259 |
4.93e-6 |
PROSPERO |
|
low complexity region
|
277 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
400 |
N/A |
INTRINSIC |
|
SEA
|
412 |
528 |
6.2e-43 |
SMART |
|
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
|
Blast:SEA
|
557 |
624 |
2e-36 |
BLAST |
|
| 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
AA Change: T721N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: T721N
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
C |
6: 72,324,500 (GRCm39) |
|
probably null |
Het |
| 1700008O03Rik |
A |
G |
7: 44,009,729 (GRCm39) |
Y158H |
probably benign |
Het |
| 4930438A08Rik |
T |
A |
11: 58,182,381 (GRCm39) |
I252N |
|
Het |
| A930011G23Rik |
G |
A |
5: 99,524,980 (GRCm39) |
P60S |
probably damaging |
Het |
| Abcf1 |
A |
G |
17: 36,271,933 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,026,260 (GRCm39) |
T14A |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,054,755 (GRCm39) |
Y253H |
probably damaging |
Het |
| Anapc1 |
T |
A |
2: 128,461,837 (GRCm39) |
K1756* |
probably null |
Het |
| Arid5b |
T |
A |
10: 68,114,536 (GRCm39) |
E2V |
possibly damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,251,569 (GRCm39) |
V545M |
probably damaging |
Het |
| Atp2b4 |
TTCTTC |
TTCTTCCTCTTC |
1: 133,629,459 (GRCm39) |
|
probably benign |
Het |
| Cert1 |
A |
G |
13: 96,679,723 (GRCm39) |
T18A |
probably benign |
Het |
| Cfap119 |
G |
A |
7: 127,184,179 (GRCm39) |
T239M |
probably benign |
Het |
| Col1a1 |
T |
G |
11: 94,836,426 (GRCm39) |
|
probably null |
Het |
| Csdc2 |
C |
T |
15: 81,833,411 (GRCm39) |
T136I |
possibly damaging |
Het |
| Dpp9 |
A |
T |
17: 56,498,129 (GRCm39) |
I609N |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Gjb6 |
T |
C |
14: 57,361,926 (GRCm39) |
R112G |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,252,992 (GRCm39) |
K646E |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,709,933 (GRCm39) |
E934G |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,745,735 (GRCm39) |
F446Y |
possibly damaging |
Het |
| Iffo2 |
C |
G |
4: 139,302,483 (GRCm39) |
N75K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,821,041 (GRCm39) |
N649D |
possibly damaging |
Het |
| Lrit2 |
G |
A |
14: 36,791,148 (GRCm39) |
A276T |
probably damaging |
Het |
| Mcm8 |
T |
C |
2: 132,684,714 (GRCm39) |
|
probably null |
Het |
| Mmut |
A |
G |
17: 41,248,219 (GRCm39) |
E82G |
possibly damaging |
Het |
| Or4n4 |
A |
G |
14: 50,518,997 (GRCm39) |
S238P |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,688,284 (GRCm39) |
M255K |
probably benign |
Het |
| Pcdhga8 |
A |
G |
18: 37,861,236 (GRCm39) |
Q764R |
probably benign |
Het |
| Pcgf2 |
T |
C |
11: 97,582,865 (GRCm39) |
Y138C |
probably benign |
Het |
| Phf20l1 |
G |
T |
15: 66,511,789 (GRCm39) |
V922F |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,792,514 (GRCm39) |
I426N |
probably damaging |
Het |
| Psmd6 |
T |
C |
14: 14,116,843 (GRCm38) |
N160S |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,809,768 (GRCm39) |
D1172G |
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,734,544 (GRCm39) |
Y11H |
possibly damaging |
Het |
| Sec24c |
G |
T |
14: 20,739,975 (GRCm39) |
A635S |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,457,997 (GRCm39) |
I478V |
probably benign |
Het |
| Traip |
T |
C |
9: 107,838,265 (GRCm39) |
M166T |
probably benign |
Het |
| Trdn |
T |
C |
10: 33,033,014 (GRCm39) |
S80P |
probably damaging |
Het |
| Tsc1 |
C |
A |
2: 28,566,141 (GRCm39) |
A520D |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,155,716 (GRCm39) |
E852G |
possibly damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,956,954 (GRCm39) |
F885S |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,746,818 (GRCm39) |
R354W |
probably damaging |
Het |
| Zfp456 |
C |
A |
13: 67,514,533 (GRCm39) |
C391F |
probably 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 |
|
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 |
|
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'- GCAGAGGAAAGTCCCTTAGTCAAG -3'
(R):5'- AGTTCCAATGCAGGGCTGAC -3'
Sequencing Primer
(F):5'- CCTTAGTCAAGGGAAGCCC -3'
(R):5'- CTGACAGGGAGGGATGGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation