Incidental Mutation 'R4450:Trim58'
ID |
328938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim58
|
Ensembl Gene |
ENSMUSG00000037124 |
Gene Name |
tripartite motif-containing 58 |
Synonyms |
LOC386443, LOC216781 |
MMRRC Submission |
041711-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R4450 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58531291-58543230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58542191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 384
(W384R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074594
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075084]
|
AlphaFold |
Q5NCC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075084
AA Change: W384R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000074594 Gene: ENSMUSG00000037124 AA Change: W384R
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 |
0.1600 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
Acsl6 |
A |
G |
11: 54,219,229 (GRCm39) |
D278G |
probably damaging |
Het |
Adamdec1 |
C |
T |
14: 68,810,568 (GRCm39) |
R196Q |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Angel1 |
A |
T |
12: 86,768,698 (GRCm39) |
Y262N |
probably damaging |
Het |
Arhgef18 |
A |
G |
8: 3,487,097 (GRCm39) |
E272G |
probably damaging |
Het |
Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
Brca2 |
T |
G |
5: 150,459,518 (GRCm39) |
D264E |
probably damaging |
Het |
Cdca4 |
T |
C |
12: 112,785,278 (GRCm39) |
N150S |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,107,861 (GRCm39) |
S510G |
probably damaging |
Het |
Cldn12 |
T |
C |
5: 5,558,398 (GRCm39) |
T10A |
probably damaging |
Het |
Clip2 |
C |
T |
5: 134,531,807 (GRCm39) |
G631D |
possibly damaging |
Het |
Col19a1 |
T |
A |
1: 24,361,116 (GRCm39) |
T625S |
probably damaging |
Het |
Col6a5 |
C |
T |
9: 105,781,720 (GRCm39) |
G1635D |
unknown |
Het |
Dcp1b |
A |
G |
6: 119,183,437 (GRCm39) |
T175A |
probably benign |
Het |
Eln |
C |
T |
5: 134,754,635 (GRCm39) |
|
probably benign |
Het |
Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
Gm9894 |
T |
A |
13: 67,913,199 (GRCm39) |
|
noncoding transcript |
Het |
Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
Klhl42 |
G |
A |
6: 146,993,169 (GRCm39) |
G47D |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lzts2 |
A |
T |
19: 45,012,032 (GRCm39) |
K154* |
probably null |
Het |
Map4k3 |
C |
T |
17: 80,911,411 (GRCm39) |
|
probably null |
Het |
Mlc1 |
A |
G |
15: 88,847,693 (GRCm39) |
F285S |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,074,458 (GRCm39) |
M789K |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,306,933 (GRCm39) |
S319T |
probably damaging |
Het |
Nsun4 |
A |
T |
4: 115,908,453 (GRCm39) |
Y702* |
probably null |
Het |
Or8b52 |
A |
T |
9: 38,577,050 (GRCm39) |
V30E |
probably benign |
Het |
Or8g34 |
G |
A |
9: 39,373,328 (GRCm39) |
M200I |
probably benign |
Het |
Osbpl5 |
T |
A |
7: 143,248,643 (GRCm39) |
T640S |
probably benign |
Het |
Plaat1 |
C |
T |
16: 29,046,976 (GRCm39) |
T165M |
possibly damaging |
Het |
Rangrf |
A |
T |
11: 68,866,010 (GRCm39) |
|
probably benign |
Het |
Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
Ros1 |
C |
T |
10: 51,954,038 (GRCm39) |
G1867D |
probably damaging |
Het |
Slc11a1 |
C |
A |
1: 74,424,694 (GRCm39) |
|
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Syt6 |
A |
G |
3: 103,492,961 (GRCm39) |
H156R |
probably benign |
Het |
Tln2 |
C |
T |
9: 67,251,347 (GRCm39) |
|
probably null |
Het |
Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
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 |
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'- ATGTTCCCAGCAACCCTGAG -3'
(R):5'- GATAAGAGGAGTCGTGTCGC -3'
Sequencing Primer
(F):5'- TGAGCGCTTTGACACCTG -3'
(R):5'- AGTAGGGCCTGAGAACGCC -3'
|
Posted On |
2015-07-21 |