Incidental Mutation 'R6101:Trim58'
ID |
485267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim58
|
Ensembl Gene |
ENSMUSG00000037124 |
Gene Name |
tripartite motif-containing 58 |
Synonyms |
LOC386443, LOC216781 |
MMRRC Submission |
044251-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R6101 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58531291-58543230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58542441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 467
(N467S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074594
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075084]
|
AlphaFold |
Q5NCC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075084
AA Change: N467S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000074594 Gene: ENSMUSG00000037124 AA Change: N467S
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
Arhgap11a |
G |
A |
2: 113,665,219 (GRCm39) |
R460* |
probably null |
Het |
Chl1 |
A |
T |
6: 103,669,993 (GRCm39) |
D477V |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,438,629 (GRCm39) |
L45Q |
probably damaging |
Het |
Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
Csrnp1 |
T |
C |
9: 119,802,551 (GRCm39) |
D220G |
probably damaging |
Het |
Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Igha |
T |
A |
12: 113,220,017 (GRCm39) |
|
probably benign |
Het |
Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,607,338 (GRCm39) |
I567T |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
Mical3 |
A |
T |
6: 121,010,671 (GRCm39) |
V437D |
probably damaging |
Het |
Mief1 |
T |
C |
15: 80,133,941 (GRCm39) |
Y333H |
probably benign |
Het |
Or12j4 |
T |
A |
7: 140,046,432 (GRCm39) |
V106D |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,598 (GRCm39) |
F158L |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
Pinlyp |
C |
T |
7: 24,245,405 (GRCm39) |
R5K |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
Pnma8b |
T |
A |
7: 16,680,493 (GRCm39) |
S492R |
probably benign |
Het |
Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
Ptprq |
A |
G |
10: 107,416,127 (GRCm39) |
Y1724H |
possibly damaging |
Het |
Rpn2 |
T |
A |
2: 157,152,108 (GRCm39) |
|
probably null |
Het |
Scn5a |
A |
G |
9: 119,351,716 (GRCm39) |
V755A |
probably damaging |
Het |
Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
Tdrd12 |
A |
T |
7: 35,180,558 (GRCm39) |
Y818* |
probably null |
Het |
Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zkscan17 |
A |
T |
11: 59,394,401 (GRCm39) |
C67S |
probably 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 |
R1294:Trim58
|
UTSW |
11 |
58,533,953 (GRCm39) |
missense |
probably benign |
0.28 |
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 |
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'- TGCCTGTGCTCCAAGATGAG -3'
(R):5'- TCAGAATGTGAACCACCCG -3'
Sequencing Primer
(F):5'- TCCAAGATGAGCGACCTCG -3'
(R):5'- ACTCATCAGTCCCACTGGG -3'
|
Posted On |
2017-08-16 |