Incidental Mutation 'R1294:Trim58'
ID |
158027 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim58
|
Ensembl Gene |
ENSMUSG00000037124 |
Gene Name |
tripartite motif-containing 58 |
Synonyms |
LOC386443, LOC216781 |
MMRRC Submission |
039360-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R1294 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58531291-58543230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58533953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 169
(I169N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074594
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075084]
|
AlphaFold |
Q5NCC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075084
AA Change: I169N
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000074594 Gene: ENSMUSG00000037124 AA Change: I169N
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
2.95e-7 |
SMART |
BBOX
|
90 |
131 |
2.93e-11 |
SMART |
coiled coil region
|
192 |
241 |
N/A |
INTRINSIC |
PRY
|
289 |
341 |
5.33e-23 |
SMART |
SPRY
|
342 |
461 |
6.16e-29 |
SMART |
|
Meta Mutation Damage Score |
0.1063 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
C2cd2 |
A |
G |
16: 97,723,469 (GRCm39) |
L16P |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
Cnn2 |
A |
G |
10: 79,829,359 (GRCm39) |
D163G |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,748,052 (GRCm39) |
D233G |
probably damaging |
Het |
Csta2 |
T |
A |
16: 36,077,618 (GRCm39) |
D58E |
probably damaging |
Het |
Dhh |
T |
C |
15: 98,792,264 (GRCm39) |
Q248R |
probably benign |
Het |
Elavl2 |
G |
A |
4: 91,199,826 (GRCm39) |
A19V |
probably benign |
Het |
Fxr1 |
T |
A |
3: 34,101,201 (GRCm39) |
M169K |
probably benign |
Het |
Ghr |
A |
G |
15: 3,418,128 (GRCm39) |
|
probably null |
Het |
Gm5334 |
T |
C |
7: 68,268,862 (GRCm39) |
S94P |
probably damaging |
Het |
Klk1b3 |
C |
A |
7: 43,849,720 (GRCm39) |
S35Y |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
Lap3 |
T |
C |
5: 45,655,863 (GRCm39) |
V156A |
probably benign |
Het |
Pcbp3 |
A |
G |
10: 76,599,155 (GRCm39) |
I327T |
probably damaging |
Het |
Plaat5 |
A |
G |
19: 7,592,015 (GRCm39) |
|
probably benign |
Het |
Polr1a |
A |
T |
6: 71,889,886 (GRCm39) |
N35I |
probably damaging |
Het |
Rab3c |
T |
C |
13: 110,397,099 (GRCm39) |
T56A |
possibly damaging |
Het |
Rapsn |
A |
T |
2: 90,867,120 (GRCm39) |
K141* |
probably null |
Het |
Rxrg |
G |
T |
1: 167,441,470 (GRCm39) |
A83S |
probably benign |
Het |
Serpinc1 |
T |
C |
1: 160,817,211 (GRCm39) |
S102P |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,378,575 (GRCm39) |
N797D |
probably benign |
Het |
Skic2 |
T |
C |
17: 35,060,040 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
A |
T |
9: 64,843,295 (GRCm39) |
V619E |
unknown |
Het |
Slc25a20 |
A |
G |
9: 108,554,838 (GRCm39) |
M128V |
probably benign |
Het |
Spam1 |
A |
G |
6: 24,796,906 (GRCm39) |
I286V |
probably benign |
Het |
Tbc1d22a |
T |
A |
15: 86,381,027 (GRCm39) |
F479Y |
probably damaging |
Het |
Tdrd1 |
A |
G |
19: 56,837,208 (GRCm39) |
|
probably null |
Het |
Vmn1r25 |
A |
G |
6: 57,955,464 (GRCm39) |
I275T |
possibly damaging |
Het |
Zfp27 |
T |
A |
7: 29,595,737 (GRCm39) |
Y76F |
possibly damaging |
Het |
|
Other mutations in Trim58 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02351:Trim58
|
APN |
11 |
58,542,176 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02358:Trim58
|
APN |
11 |
58,542,176 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02792:Trim58
|
APN |
11 |
58,531,292 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02794:Trim58
|
APN |
11 |
58,531,292 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02875:Trim58
|
APN |
11 |
58,531,292 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02934:Trim58
|
APN |
11 |
58,531,292 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL03083:Trim58
|
APN |
11 |
58,542,216 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03213:Trim58
|
APN |
11 |
58,541,993 (GRCm39) |
missense |
probably benign |
0.00 |
R0011:Trim58
|
UTSW |
11 |
58,533,946 (GRCm39) |
missense |
probably benign |
0.02 |
R0011:Trim58
|
UTSW |
11 |
58,533,946 (GRCm39) |
missense |
probably benign |
0.02 |
R0735:Trim58
|
UTSW |
11 |
58,542,219 (GRCm39) |
missense |
probably benign |
0.16 |
R1929:Trim58
|
UTSW |
11 |
58,531,493 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2104:Trim58
|
UTSW |
11 |
58,533,964 (GRCm39) |
splice site |
probably benign |
|
R2311:Trim58
|
UTSW |
11 |
58,533,934 (GRCm39) |
missense |
probably benign |
0.02 |
R2981:Trim58
|
UTSW |
11 |
58,542,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R3432:Trim58
|
UTSW |
11 |
58,537,787 (GRCm39) |
splice site |
probably benign |
|
R4270:Trim58
|
UTSW |
11 |
58,542,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R4450:Trim58
|
UTSW |
11 |
58,542,191 (GRCm39) |
missense |
probably benign |
0.03 |
R4841:Trim58
|
UTSW |
11 |
58,542,150 (GRCm39) |
missense |
probably damaging |
0.96 |
R4842:Trim58
|
UTSW |
11 |
58,542,150 (GRCm39) |
missense |
probably damaging |
0.96 |
R5262:Trim58
|
UTSW |
11 |
58,542,494 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5979:Trim58
|
UTSW |
11 |
58,536,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R6101:Trim58
|
UTSW |
11 |
58,542,441 (GRCm39) |
missense |
probably benign |
0.01 |
R6684:Trim58
|
UTSW |
11 |
58,542,446 (GRCm39) |
missense |
probably benign |
0.00 |
R6747:Trim58
|
UTSW |
11 |
58,542,090 (GRCm39) |
missense |
probably benign |
0.02 |
R7126:Trim58
|
UTSW |
11 |
58,531,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R7981:Trim58
|
UTSW |
11 |
58,542,138 (GRCm39) |
missense |
probably benign |
0.26 |
R8307:Trim58
|
UTSW |
11 |
58,537,909 (GRCm39) |
missense |
probably benign |
0.00 |
R9221:Trim58
|
UTSW |
11 |
58,542,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R9318:Trim58
|
UTSW |
11 |
58,542,093 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Trim58
|
UTSW |
11 |
58,536,795 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Trim58
|
UTSW |
11 |
58,537,931 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1186:Trim58
|
UTSW |
11 |
58,542,486 (GRCm39) |
missense |
probably benign |
|
Z1186:Trim58
|
UTSW |
11 |
58,531,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1187:Trim58
|
UTSW |
11 |
58,542,486 (GRCm39) |
missense |
probably benign |
|
Z1187:Trim58
|
UTSW |
11 |
58,531,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1188:Trim58
|
UTSW |
11 |
58,542,486 (GRCm39) |
missense |
probably benign |
|
Z1188:Trim58
|
UTSW |
11 |
58,531,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1189:Trim58
|
UTSW |
11 |
58,542,486 (GRCm39) |
missense |
probably benign |
|
Z1189:Trim58
|
UTSW |
11 |
58,531,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1190:Trim58
|
UTSW |
11 |
58,542,486 (GRCm39) |
missense |
probably benign |
|
Z1190:Trim58
|
UTSW |
11 |
58,531,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1191:Trim58
|
UTSW |
11 |
58,542,486 (GRCm39) |
missense |
probably benign |
|
Z1191:Trim58
|
UTSW |
11 |
58,531,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1192:Trim58
|
UTSW |
11 |
58,542,486 (GRCm39) |
missense |
probably benign |
|
Z1192:Trim58
|
UTSW |
11 |
58,531,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCTGACTTTCGTGAGTCCAAC -3'
(R):5'- TCCACCAGTGAGTCTGACCGTAAG -3'
Sequencing Primer
(F):5'- TTCGTGAGTCCAACAGTCAG -3'
(R):5'- GGCACTATGATGCGTTTCTG -3'
|
Posted On |
2014-02-18 |