Incidental Mutation 'R6684:Trim58'
| ID |
527622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim58
|
| Ensembl Gene |
ENSMUSG00000037124 |
| Gene Name |
tripartite motif-containing 58 |
| Synonyms |
LOC386443, LOC216781 |
| MMRRC Submission |
044803-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58531291-58543230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58542446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 469
(T469A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075084]
|
| AlphaFold |
Q5NCC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075084
AA Change: T469A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074594
Gene: ENSMUSG00000037124
AA Change: T469A
| 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: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
94% (33/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
G |
A |
5: 24,774,137 (GRCm39) |
R322W |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,893,324 (GRCm39) |
G63V |
probably damaging |
Het |
| Carmil1 |
G |
A |
13: 24,206,525 (GRCm39) |
T5M |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,853,329 (GRCm39) |
K70* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,908,708 (GRCm39) |
I1107N |
probably damaging |
Het |
| Ehd4 |
A |
G |
2: 119,984,815 (GRCm39) |
F48L |
probably damaging |
Het |
| Fam221a |
G |
T |
6: 49,349,542 (GRCm39) |
E36* |
probably null |
Het |
| Fam81b |
G |
A |
13: 76,350,157 (GRCm39) |
Q423* |
probably null |
Het |
| Galnt7 |
C |
T |
8: 57,991,143 (GRCm39) |
V456I |
probably benign |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,956 (GRCm39) |
H369R |
possibly damaging |
Het |
| Impg2 |
T |
G |
16: 56,080,292 (GRCm39) |
S590A |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,170 (GRCm39) |
H75L |
probably benign |
Het |
| Lims1 |
T |
A |
10: 58,234,835 (GRCm39) |
|
probably null |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,141 (GRCm39) |
T41A |
probably damaging |
Het |
| Orai3 |
A |
G |
7: 127,372,892 (GRCm39) |
N131S |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,849,103 (GRCm39) |
L370P |
probably damaging |
Het |
| Phtf2 |
A |
G |
5: 21,017,937 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,323,071 (GRCm39) |
Y709H |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,262,462 (GRCm39) |
S719P |
probably benign |
Het |
| Polr3g |
A |
T |
13: 81,847,650 (GRCm39) |
|
probably null |
Het |
| Ppp4r1 |
G |
A |
17: 66,131,337 (GRCm39) |
A360T |
probably benign |
Het |
| Pramel6 |
T |
C |
2: 87,339,748 (GRCm39) |
W171R |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,583,689 (GRCm39) |
|
probably benign |
Het |
| Rasl10a |
G |
A |
11: 5,008,396 (GRCm39) |
E31K |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,433 (GRCm39) |
R2813G |
probably damaging |
Het |
| Tmem71 |
A |
G |
15: 66,413,539 (GRCm39) |
S178P |
possibly damaging |
Het |
| Vash1 |
A |
G |
12: 86,735,683 (GRCm39) |
T190A |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 45,006,136 (GRCm39) |
S1210P |
possibly damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Zfp595 |
T |
C |
13: 67,468,341 (GRCm39) |
Y72C |
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 |
|
R6101:Trim58
|
UTSW |
11 |
58,542,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CTCAGAATGTGAACCACCCG -3'
Sequencing Primer
(F):5'- TCCAAGATGAGCGACCTCG -3'
(R):5'- ACTCATCAGTCCCACTGGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation