Incidental Mutation 'R8509:Trim46'
| ID |
655746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim46
|
| Ensembl Gene |
ENSMUSG00000042766 |
| Gene Name |
tripartite motif-containing 46 |
| Synonyms |
TRIFIC |
| MMRRC Submission |
067944-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R8509 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89141484-89153616 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 89153020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040888]
[ENSMUST00000041022]
[ENSMUST00000041022]
[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 null
Transcript: ENSMUST00000041022
|
| SMART Domains |
Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
| 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 null
Transcript: ENSMUST00000041022
|
| SMART Domains |
Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
| 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 null
Transcript: ENSMUST00000041022
|
| SMART Domains |
Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
| 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
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
| 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 |
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 |
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 |
|
| Meta Mutation Damage Score |
0.9503 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
C |
7: 115,703,669 (GRCm39) |
S181P |
possibly damaging |
Het |
| Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
| Ano3 |
T |
C |
2: 110,496,180 (GRCm39) |
E858G |
possibly damaging |
Het |
| Asrgl1 |
T |
C |
19: 9,091,590 (GRCm39) |
K244E |
probably damaging |
Het |
| BC048679 |
T |
A |
7: 81,145,116 (GRCm39) |
T82S |
probably benign |
Het |
| Brip1 |
A |
T |
11: 86,088,774 (GRCm39) |
C42* |
probably null |
Het |
| Cabcoco1 |
T |
C |
10: 68,267,119 (GRCm39) |
E296G |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,714 (GRCm39) |
N116S |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,695,876 (GRCm39) |
E214G |
probably benign |
Het |
| Cyp11b1 |
A |
G |
15: 74,711,202 (GRCm39) |
F159L |
possibly damaging |
Het |
| Dmxl2 |
C |
A |
9: 54,335,341 (GRCm39) |
E660* |
probably null |
Het |
| Dnah14 |
C |
T |
1: 181,642,220 (GRCm39) |
T112M |
|
Het |
| Fancd2 |
A |
G |
6: 113,549,531 (GRCm39) |
T74A |
probably benign |
Het |
| Fat4 |
G |
T |
3: 39,036,052 (GRCm39) |
V3235L |
probably benign |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gmcl1 |
A |
C |
6: 86,699,589 (GRCm39) |
I146S |
probably damaging |
Het |
| Hbb-bs |
T |
A |
7: 103,475,919 (GRCm39) |
K133* |
probably null |
Het |
| Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,449,302 (GRCm39) |
K5446* |
probably null |
Het |
| Hyal6 |
A |
T |
6: 24,734,605 (GRCm39) |
E179D |
probably damaging |
Het |
| Inpp5b |
T |
A |
4: 124,637,698 (GRCm39) |
|
probably null |
Het |
| Lrba |
A |
G |
3: 86,255,483 (GRCm39) |
K942E |
probably benign |
Het |
| Lrrcc1 |
A |
G |
3: 14,601,567 (GRCm39) |
N110S |
probably damaging |
Het |
| Mcoln3 |
A |
G |
3: 145,830,647 (GRCm39) |
I126V |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,572,048 (GRCm39) |
I242V |
probably benign |
Het |
| Ndufb4 |
A |
G |
16: 37,469,506 (GRCm39) |
I66T |
probably benign |
Het |
| Npffr2 |
T |
C |
5: 89,731,188 (GRCm39) |
S373P |
possibly damaging |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,931,866 (GRCm39) |
Y155C |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,172,008 (GRCm39) |
I579N |
|
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ripk2 |
T |
C |
4: 16,124,436 (GRCm39) |
E424G |
probably benign |
Het |
| Rnf19b |
T |
A |
4: 128,967,369 (GRCm39) |
C304S |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,248,064 (GRCm39) |
W46R |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,592,664 (GRCm39) |
|
probably null |
Het |
| Sbf1 |
A |
T |
15: 89,177,660 (GRCm39) |
D1674E |
probably damaging |
Het |
| Sgf29 |
T |
A |
7: 126,270,834 (GRCm39) |
|
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,585,339 (GRCm39) |
|
probably null |
Het |
| Smg6 |
T |
C |
11: 74,932,702 (GRCm39) |
S998P |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,126,950 (GRCm39) |
V2020A |
probably benign |
Het |
| Srgap3 |
G |
A |
6: 112,708,297 (GRCm39) |
Q801* |
probably null |
Het |
| Taf4b |
A |
G |
18: 15,031,112 (GRCm39) |
D832G |
probably damaging |
Het |
| Trim12a |
T |
C |
7: 103,955,234 (GRCm39) |
D163G |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,971,785 (GRCm39) |
V274A |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,680,788 (GRCm39) |
D2128G |
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 |
|
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 |
|
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'- AAACGGGAGTCTCACCACTC -3'
(R):5'- CAGTTCGAAGCTAGTCCCTG -3'
Sequencing Primer
(F):5'- AGTCTCACCACTCGGCTG -3'
(R):5'- AAGCTAGTCCCTGGAGCATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation