Incidental Mutation 'R2311:Trim58'
| ID |
245350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim58
|
| Ensembl Gene |
ENSMUSG00000037124 |
| Gene Name |
tripartite motif-containing 58 |
| Synonyms |
LOC386443, LOC216781 |
| MMRRC Submission |
040310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R2311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58531291-58543230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58533934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 163
(V163M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075084]
|
| AlphaFold |
Q5NCC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075084
AA Change: V163M
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000074594
Gene: ENSMUSG00000037124
AA Change: V163M
| 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 |
0.0792 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
G |
A |
15: 77,602,236 (GRCm39) |
R278H |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,578,111 (GRCm39) |
S946P |
probably benign |
Het |
| Capsl |
A |
T |
15: 9,462,689 (GRCm39) |
R110* |
probably null |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,160,368 (GRCm39) |
I1757N |
possibly damaging |
Het |
| Dthd1 |
T |
C |
5: 62,996,580 (GRCm39) |
|
probably benign |
Het |
| Eif5a2 |
A |
G |
3: 28,836,325 (GRCm39) |
E42G |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,121,639 (GRCm39) |
S61G |
probably benign |
Het |
| Elp4 |
T |
C |
2: 105,672,677 (GRCm39) |
N136S |
probably benign |
Het |
| Elp6 |
A |
G |
9: 110,149,886 (GRCm39) |
S223G |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,503,675 (GRCm39) |
D743E |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,535,194 (GRCm39) |
Q85R |
probably damaging |
Het |
| Fermt3 |
C |
A |
19: 6,991,530 (GRCm39) |
C194F |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,200,260 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
C |
T |
2: 28,500,186 (GRCm39) |
G282R |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,109,927 (GRCm39) |
I444K |
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,797 (GRCm39) |
K153E |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,408,970 (GRCm39) |
M95K |
possibly damaging |
Het |
| Hgs |
C |
T |
11: 120,370,474 (GRCm39) |
R167W |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,198,784 (GRCm39) |
I130T |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,456,489 (GRCm39) |
Y25N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,335,240 (GRCm39) |
V629I |
probably benign |
Het |
| Nrl |
C |
A |
14: 55,759,909 (GRCm39) |
S6I |
probably damaging |
Het |
| Or10am5 |
A |
T |
7: 6,517,741 (GRCm39) |
M229K |
probably benign |
Het |
| Or4c29 |
T |
A |
2: 88,739,813 (GRCm39) |
D308V |
probably benign |
Het |
| Or5d37 |
T |
C |
2: 87,924,178 (GRCm39) |
N34S |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,211 (GRCm39) |
F377S |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,427,162 (GRCm39) |
S91P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,292,644 (GRCm39) |
Y737F |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,388 (GRCm39) |
I94F |
possibly damaging |
Het |
| Serpine2 |
A |
G |
1: 79,788,265 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,013 (GRCm39) |
R816G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,071,024 (GRCm39) |
N2092D |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,748 (GRCm39) |
V171A |
probably benign |
Het |
| Trim59 |
G |
T |
3: 68,945,162 (GRCm39) |
C59* |
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vill |
A |
G |
9: 118,894,965 (GRCm39) |
N61S |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,991,834 (GRCm39) |
R662H |
probably damaging |
Het |
| Zfp644 |
A |
C |
5: 106,782,822 (GRCm39) |
V1184G |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,609,866 (GRCm39) |
S620P |
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 |
|
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 |
|
|
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'- CGTCTGCTGACTTTCGTGAG -3'
(R):5'- TGACCGTAAGATTCGGATAGC -3'
Sequencing Primer
(F):5'- TTCGTGAGTCCAACAGTCAG -3'
(R):5'- GCAAGACTACTTACTTAAGTCAGGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation