Incidental Mutation 'R6390:Trim61'
| ID |
515729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim61
|
| Ensembl Gene |
ENSMUSG00000109718 |
| Gene Name |
tripartite motif-containing 61 |
| Synonyms |
2czf61, E330039K03Rik, Rnf35 |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
65012987-65018523 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65014190 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 140
(M140L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048565]
[ENSMUST00000078409]
|
| AlphaFold |
Q8JZK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048565
|
| SMART Domains |
Protein: ENSMUSP00000040299
Gene: ENSMUSG00000053490
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
55 |
1.48e-7 |
SMART |
|
low complexity region
|
81 |
90 |
N/A |
INTRINSIC |
|
BBOX
|
91 |
132 |
3.12e-6 |
SMART |
|
PRY
|
289 |
341 |
4.11e-15 |
SMART |
|
Pfam:SPRY
|
344 |
459 |
2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078409
AA Change: M140L
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000077513
Gene: ENSMUSG00000109718
AA Change: M140L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
4.66e-5 |
SMART |
|
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
|
coiled coil region
|
201 |
232 |
N/A |
INTRINSIC |
|
PRY
|
280 |
331 |
1.35e-10 |
SMART |
|
Pfam:SPRY
|
334 |
458 |
5.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148141
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211739
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,187,981 (GRCm38) |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,368,017 (GRCm38) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,373,929 (GRCm38) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,936,375 (GRCm38) |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,792,624 (GRCm38) |
P174S |
possibly damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm38) |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,315,857 (GRCm38) |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,588,160 (GRCm38) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 38,980,380 (GRCm38) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,436,611 (GRCm38) |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,306,823 (GRCm38) |
E49Q |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,556,489 (GRCm38) |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,762,473 (GRCm38) |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,561,486 (GRCm38) |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,419,946 (GRCm38) |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 97,040,931 (GRCm38) |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,752,146 (GRCm38) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,115,249 (GRCm38) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 33,881,181 (GRCm38) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,570,992 (GRCm38) |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 45,287,002 (GRCm38) |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 124,903,219 (GRCm38) |
N417S |
probably benign |
Het |
| Vars |
C |
A |
17: 35,015,639 (GRCm38) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,268,463 (GRCm38) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,605,249 (GRCm38) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,460,114 (GRCm38) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 33,104,094 (GRCm38) |
D1200G |
probably damaging |
Het |
| Wdr63 |
A |
G |
3: 146,095,388 (GRCm38) |
L105P |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,428,678 (GRCm38) |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 120,141,230 (GRCm38) |
N170K |
probably benign |
Het |
|
| Other mutations in Trim61 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00793:Trim61
|
APN |
8 |
65,014,091 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0184:Trim61
|
UTSW |
8 |
65,014,417 (GRCm38) |
missense |
probably benign |
0.40 |
|
R1955:Trim61
|
UTSW |
8 |
65,013,392 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3928:Trim61
|
UTSW |
8 |
65,013,317 (GRCm38) |
missense |
probably benign |
0.39 |
|
R3929:Trim61
|
UTSW |
8 |
65,013,317 (GRCm38) |
missense |
probably benign |
0.39 |
|
R4850:Trim61
|
UTSW |
8 |
65,013,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6249:Trim61
|
UTSW |
8 |
65,014,456 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6406:Trim61
|
UTSW |
8 |
65,013,725 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R7159:Trim61
|
UTSW |
8 |
65,013,874 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7182:Trim61
|
UTSW |
8 |
65,013,614 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9359:Trim61
|
UTSW |
8 |
65,014,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9403:Trim61
|
UTSW |
8 |
65,014,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Trim61
|
UTSW |
8 |
65,013,313 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAACAAGGAGGCGTGATCTG -3'
(R):5'- CCCCTGAAAGAACTAGCAGGAG -3'
Sequencing Primer
(F):5'- CAAGGAGGCGTGATCTGATAATTTC -3'
(R):5'- CCTGAAAGAACTAGCAGGAGTGGAAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation