Incidental Mutation 'R6648:Trim46'
| ID |
524339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim46
|
| Ensembl Gene |
ENSMUSG00000042766 |
| Gene Name |
tripartite motif-containing 46 |
| Synonyms |
TRIFIC |
| MMRRC Submission |
044769-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R6648 (G1)
|
| Quality Score |
129.008 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89141484-89153616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89142549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 623
(E623G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041022]
[ENSMUST00000041142]
[ENSMUST00000090924]
[ENSMUST00000107464]
[ENSMUST00000143637]
|
| AlphaFold |
Q7TNM2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041022
AA Change: E646G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: E646G
| 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 |
unknown
Transcript: ENSMUST00000090924
AA Change: R534G
|
| SMART Domains |
Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766
AA Change: R534G
| 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 |
possibly damaging
Transcript: ENSMUST00000107464
AA Change: E623G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: E623G
| 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 |
0.0608 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
C |
17: 45,827,490 (GRCm39) |
Y511H |
probably damaging |
Het |
| Arhgef38 |
A |
T |
3: 132,838,236 (GRCm39) |
I600N |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,323,395 (GRCm39) |
C1270S |
probably damaging |
Het |
| Ccar2 |
T |
G |
14: 70,376,674 (GRCm39) |
D890A |
probably benign |
Het |
| Cep76 |
A |
T |
18: 67,752,804 (GRCm39) |
V548D |
probably benign |
Het |
| Chat |
T |
G |
14: 32,176,651 (GRCm39) |
Q41P |
probably benign |
Het |
| Ddx24 |
T |
A |
12: 103,374,634 (GRCm39) |
N850I |
probably benign |
Het |
| Dst |
A |
G |
1: 34,301,122 (GRCm39) |
I5879V |
possibly damaging |
Het |
| Ece1 |
A |
G |
4: 137,648,470 (GRCm39) |
T92A |
probably benign |
Het |
| Ecrg4 |
T |
A |
1: 43,777,851 (GRCm39) |
F87I |
probably damaging |
Het |
| Fpgs |
G |
T |
2: 32,574,799 (GRCm39) |
C439* |
probably null |
Het |
| H2-Q4 |
A |
T |
17: 35,601,981 (GRCm39) |
E281V |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,252,299 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
T |
C |
13: 95,818,719 (GRCm39) |
E679G |
probably benign |
Het |
| Kif12 |
A |
T |
4: 63,089,554 (GRCm39) |
|
probably null |
Het |
| Kif21b |
T |
C |
1: 136,080,135 (GRCm39) |
V557A |
probably benign |
Het |
| Mki67 |
C |
G |
7: 135,299,169 (GRCm39) |
S1955T |
probably damaging |
Het |
| Mybpc1 |
G |
A |
10: 88,358,861 (GRCm39) |
T1110M |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,650,972 (GRCm39) |
H1625R |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,466,710 (GRCm39) |
T704M |
probably damaging |
Het |
| Or1ad6 |
G |
A |
11: 50,860,000 (GRCm39) |
D52N |
probably damaging |
Het |
| Or5a21 |
A |
T |
19: 12,311,130 (GRCm39) |
M30K |
probably benign |
Het |
| Osbpl9 |
C |
A |
4: 108,948,876 (GRCm39) |
Q91H |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,553,185 (GRCm39) |
L665Q |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,838,996 (GRCm39) |
D53G |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,591,172 (GRCm39) |
D189G |
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,933,398 (GRCm39) |
Q676L |
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,676 (GRCm39) |
S134P |
probably benign |
Het |
| Rln1 |
G |
T |
19: 29,309,521 (GRCm39) |
T86K |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,370,746 (GRCm39) |
A4785T |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,148,111 (GRCm39) |
C1274R |
probably benign |
Het |
| Slc35a5 |
A |
T |
16: 44,964,280 (GRCm39) |
F318I |
probably damaging |
Het |
| Slc41a3 |
T |
C |
6: 90,596,490 (GRCm39) |
F20L |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,527,633 (GRCm39) |
N189K |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,557,148 (GRCm39) |
E1196V |
probably damaging |
Het |
| Tmc3 |
T |
A |
7: 83,246,751 (GRCm39) |
V164D |
probably damaging |
Het |
| Ubr4 |
C |
A |
4: 139,180,030 (GRCm39) |
C3403* |
probably null |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,694 (GRCm39) |
T104S |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
| Zfp1002 |
T |
C |
2: 150,097,097 (GRCm39) |
I111V |
probably benign |
Het |
| Zmynd11 |
T |
G |
13: 9,763,057 (GRCm39) |
S95R |
probably benign |
Het |
| Zswim4 |
C |
A |
8: 84,957,543 (GRCm39) |
R175L |
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 |
|
|
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 |
|
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'- GACTTTCCTCTCAGGCTTGGTG -3'
(R):5'- AATACCTGCAACCGCCTGTC -3'
Sequencing Primer
(F):5'- GCTCCTGCAGCTGAACAG -3'
(R):5'- GCCTGTCCCCCAACATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation