Incidental Mutation 'R3730:Trim46'
| ID |
270918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim46
|
| Ensembl Gene |
ENSMUSG00000042766 |
| Gene Name |
tripartite motif-containing 46 |
| Synonyms |
TRIFIC |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.765)
|
| Stock # |
R3730 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89141484-89153616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89142256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 721
(T721S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041022]
[ENSMUST00000041142]
[ENSMUST00000090924]
[ENSMUST00000107464]
[ENSMUST00000143637]
|
| AlphaFold |
Q7TNM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041022
AA Change: T744S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: T744S
| 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: T721S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: T721S
| 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: ENSMUST00000139206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139419
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000146844
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,615,450 (GRCm39) |
N141S |
probably damaging |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,145 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Adamts19 |
G |
A |
18: 59,033,982 (GRCm39) |
R319Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,008 (GRCm39) |
E218G |
possibly damaging |
Het |
| Atg4b |
T |
A |
1: 93,695,997 (GRCm39) |
D45E |
probably damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,557 (GRCm39) |
E84G |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,803,481 (GRCm39) |
Y838C |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,464,631 (GRCm39) |
I1280L |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,847,335 (GRCm39) |
Y951* |
probably null |
Het |
| Col4a4 |
T |
A |
1: 82,433,472 (GRCm39) |
|
probably null |
Het |
| Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
| Cyp3a25 |
G |
A |
5: 145,939,891 (GRCm39) |
P39S |
probably damaging |
Het |
| Dhx9 |
C |
A |
1: 153,353,866 (GRCm39) |
A186S |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,695,824 (GRCm39) |
S336P |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,784,882 (GRCm39) |
V314A |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,162 (GRCm39) |
I157T |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,545 (GRCm39) |
T1613S |
probably damaging |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,751,359 (GRCm39) |
S1576T |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,198,321 (GRCm39) |
T555A |
possibly damaging |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,938,606 (GRCm39) |
E766G |
probably damaging |
Het |
| Ldlr |
C |
G |
9: 21,643,097 (GRCm39) |
A41G |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Mapk11 |
G |
A |
15: 89,029,318 (GRCm39) |
A248V |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Npr2 |
T |
C |
4: 43,640,999 (GRCm39) |
S402P |
possibly damaging |
Het |
| Olfm2 |
T |
C |
9: 20,584,063 (GRCm39) |
N76D |
probably damaging |
Het |
| Or7g33 |
T |
A |
9: 19,448,447 (GRCm39) |
I260F |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,059,195 (GRCm39) |
I40T |
probably benign |
Het |
| Pias4 |
A |
T |
10: 80,999,888 (GRCm39) |
F55Y |
probably damaging |
Het |
| Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
| Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc35e4 |
A |
G |
11: 3,862,577 (GRCm39) |
V204A |
possibly damaging |
Het |
| Syt4 |
T |
C |
18: 31,577,189 (GRCm39) |
H55R |
probably damaging |
Het |
| Usf3 |
G |
T |
16: 44,038,938 (GRCm39) |
L1139F |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,866,729 (GRCm39) |
M100L |
probably benign |
Het |
| Zbtb33 |
C |
A |
X: 37,281,822 (GRCm39) |
N243K |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
|
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'- AGAAGCAGAGGAAAGTCCCTTAGTC -3'
(R):5'- AGTTCCAATGCAGGGCTGAC -3'
Sequencing Primer
(F):5'- CCTTAGTCAAGGGAAGCCC -3'
(R):5'- CTGACAGGGAGGGATGGCC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation