Incidental Mutation 'R6586:Trim60'
ID |
524411 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim60
|
Ensembl Gene |
ENSMUSG00000053490 |
Gene Name |
tripartite motif-containing 60 |
Synonyms |
Rnf33, 2czf45 |
MMRRC Submission |
044710-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R6586 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
65451959-65471236 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 65453248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 334
(L334I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048565]
|
AlphaFold |
Q8VI40 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048565
AA Change: L334I
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040299 Gene: ENSMUSG00000053490 AA Change: L334I
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Pseudogenes of this gene are located on more than six chromosomes including chromosome 4. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
Acaa1a |
A |
G |
9: 119,178,604 (GRCm39) |
|
probably null |
Het |
Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
Egfem1 |
T |
A |
3: 29,716,560 (GRCm39) |
C343* |
probably null |
Het |
Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
Mterf2 |
A |
G |
10: 84,955,970 (GRCm39) |
F218S |
probably damaging |
Het |
Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
Nrip2 |
T |
A |
6: 128,381,911 (GRCm39) |
C85* |
probably null |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
Palm |
A |
C |
10: 79,645,365 (GRCm39) |
N111H |
probably benign |
Het |
Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
Psg28 |
T |
C |
7: 18,164,469 (GRCm39) |
Y81C |
probably damaging |
Het |
Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
Styxl2 |
T |
C |
1: 165,928,454 (GRCm39) |
E386G |
possibly damaging |
Het |
Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
Ythdf2 |
A |
T |
4: 131,932,911 (GRCm39) |
M83K |
probably benign |
Het |
|
Other mutations in Trim60 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00467:Trim60
|
APN |
8 |
65,453,371 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL03145:Trim60
|
APN |
8 |
65,453,224 (GRCm39) |
missense |
probably damaging |
0.99 |
R0054:Trim60
|
UTSW |
8 |
65,453,973 (GRCm39) |
missense |
probably benign |
0.05 |
R0054:Trim60
|
UTSW |
8 |
65,453,973 (GRCm39) |
missense |
probably benign |
0.05 |
R0080:Trim60
|
UTSW |
8 |
65,453,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R0244:Trim60
|
UTSW |
8 |
65,453,700 (GRCm39) |
missense |
probably benign |
0.07 |
R0348:Trim60
|
UTSW |
8 |
65,453,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R1104:Trim60
|
UTSW |
8 |
65,454,071 (GRCm39) |
missense |
probably benign |
0.04 |
R1615:Trim60
|
UTSW |
8 |
65,453,162 (GRCm39) |
nonsense |
probably null |
|
R1667:Trim60
|
UTSW |
8 |
65,454,116 (GRCm39) |
missense |
probably benign |
0.00 |
R1944:Trim60
|
UTSW |
8 |
65,453,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2009:Trim60
|
UTSW |
8 |
65,453,975 (GRCm39) |
missense |
probably damaging |
0.99 |
R4093:Trim60
|
UTSW |
8 |
65,454,030 (GRCm39) |
missense |
probably benign |
0.05 |
R4400:Trim60
|
UTSW |
8 |
65,453,864 (GRCm39) |
nonsense |
probably null |
|
R5171:Trim60
|
UTSW |
8 |
65,453,176 (GRCm39) |
missense |
probably benign |
0.05 |
R5898:Trim60
|
UTSW |
8 |
65,453,016 (GRCm39) |
nonsense |
probably null |
|
R7012:Trim60
|
UTSW |
8 |
65,453,043 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7092:Trim60
|
UTSW |
8 |
65,453,700 (GRCm39) |
missense |
probably benign |
0.07 |
R7274:Trim60
|
UTSW |
8 |
65,453,133 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7567:Trim60
|
UTSW |
8 |
65,454,177 (GRCm39) |
missense |
probably damaging |
0.97 |
R7761:Trim60
|
UTSW |
8 |
65,453,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9063:Trim60
|
UTSW |
8 |
65,453,465 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Predicted Primers |
PCR Primer
(F):5'- AATATGCCGACCTTGCTGGG -3'
(R):5'- AGTATTCTGGCTTGAGCAGAATC -3'
Sequencing Primer
(F):5'- GCAGAAACTCCGTTCTTAGAGGTC -3'
(R):5'- TCTGGCTTGAGCAGAATCATCAAG -3'
|
Posted On |
2018-06-22 |