Incidental Mutation 'R3929:Trim61'
| ID |
308639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim61
|
| Ensembl Gene |
ENSMUSG00000109718 |
| Gene Name |
tripartite motif-containing 61 |
| Synonyms |
Rnf35, E330039K03Rik, 2czf61 |
| MMRRC Submission |
040824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R3929 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
65465639-65471175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65465969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 431
(F431L)
|
| 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: F431L
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000077513
Gene: ENSMUSG00000109718
AA Change: F431L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
A |
C |
3: 152,373,444 (GRCm39) |
L18R |
probably damaging |
Het |
| Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
| C9 |
T |
A |
15: 6,496,939 (GRCm39) |
I212N |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,587,452 (GRCm39) |
|
probably null |
Het |
| Ccnf |
A |
G |
17: 24,453,356 (GRCm39) |
V361A |
probably damaging |
Het |
| Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
| Dmrta1 |
C |
T |
4: 89,579,681 (GRCm39) |
Q214* |
probably null |
Het |
| E230025N22Rik |
T |
C |
18: 36,824,625 (GRCm39) |
D112G |
probably damaging |
Het |
| Frat1 |
T |
C |
19: 41,819,087 (GRCm39) |
C161R |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,275,857 (GRCm39) |
|
probably null |
Het |
| Klhl40 |
A |
G |
9: 121,609,742 (GRCm39) |
D509G |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,356,629 (GRCm39) |
V1072A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,520,064 (GRCm39) |
Y2340H |
probably damaging |
Het |
| Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
| Or2y17 |
A |
T |
11: 49,231,820 (GRCm39) |
M154L |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,791 (GRCm39) |
C149Y |
probably benign |
Het |
| Or5be3 |
T |
A |
2: 86,864,428 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or6c2 |
G |
A |
10: 129,362,100 (GRCm39) |
M1I |
probably null |
Het |
| Prdm10 |
T |
C |
9: 31,258,432 (GRCm39) |
I619T |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,868 (GRCm39) |
T71A |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,183,876 (GRCm39) |
I202V |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,025,421 (GRCm39) |
N1089S |
probably damaging |
Het |
| St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
| Stap2 |
A |
C |
17: 56,310,156 (GRCm39) |
F50V |
probably damaging |
Het |
| Stkld1 |
T |
A |
2: 26,830,059 (GRCm39) |
|
probably null |
Het |
| Tars3 |
A |
G |
7: 65,333,791 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
G |
C |
3: 22,243,932 (GRCm39) |
D69H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,614,176 (GRCm39) |
I46T |
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,292,587 (GRCm39) |
Y210H |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,870,926 (GRCm39) |
S584P |
possibly damaging |
Het |
|
| Other mutations in Trim61 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00793:Trim61
|
APN |
8 |
65,466,743 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0184:Trim61
|
UTSW |
8 |
65,467,069 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1955:Trim61
|
UTSW |
8 |
65,466,044 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3928:Trim61
|
UTSW |
8 |
65,465,969 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4850:Trim61
|
UTSW |
8 |
65,466,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Trim61
|
UTSW |
8 |
65,467,108 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6390:Trim61
|
UTSW |
8 |
65,466,842 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6406:Trim61
|
UTSW |
8 |
65,466,377 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7159:Trim61
|
UTSW |
8 |
65,466,526 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7182:Trim61
|
UTSW |
8 |
65,466,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9359:Trim61
|
UTSW |
8 |
65,467,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9403:Trim61
|
UTSW |
8 |
65,467,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Trim61
|
UTSW |
8 |
65,465,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCATCAAACAGGCTACTCC -3'
(R):5'- CTCAGTGCAGGATGGATTATGG -3'
Sequencing Primer
(F):5'- AGGCTACTCCTGACGCAG -3'
(R):5'- GGGAGTTGGGCTAGACAATTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation