Incidental Mutation 'IGL00766:Trim59'
| ID |
14577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim59
|
| Ensembl Gene |
ENSMUSG00000034317 |
| Gene Name |
tripartite motif-containing 59 |
| Synonyms |
Mrf1, TSBF1, 2310035M22Rik, 2700022F13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00766
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
68942625-68952075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 68944712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 209
(D209E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042901]
[ENSMUST00000107802]
[ENSMUST00000107803]
[ENSMUST00000136512]
[ENSMUST00000148385]
|
| AlphaFold |
Q922Y2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042901
|
| SMART Domains |
Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1W1W|D
|
89 |
238 |
1e-17 |
PDB |
|
Blast:AAA
|
104 |
238 |
3e-6 |
BLAST |
|
low complexity region
|
408 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
567 |
N/A |
INTRINSIC |
|
SMC_hinge
|
611 |
726 |
1.12e-31 |
SMART |
|
low complexity region
|
870 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
953 |
N/A |
INTRINSIC |
|
Blast:AAA
|
1102 |
1276 |
5e-26 |
BLAST |
|
PDB:3KTA|D
|
1125 |
1276 |
3e-30 |
PDB |
|
SCOP:d1e69a_
|
1188 |
1263 |
3e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107802
AA Change: D209E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103432
Gene: ENSMUSG00000034317
AA Change: D209E
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
59 |
2.44e-8 |
SMART |
|
Pfam:zf-B_box
|
92 |
134 |
5.9e-10 |
PFAM |
|
transmembrane domain
|
329 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107803
|
| SMART Domains |
Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_23
|
59 |
329 |
1.3e-12 |
PFAM |
|
Pfam:AAA_21
|
81 |
199 |
5.2e-7 |
PFAM |
|
coiled coil region
|
369 |
482 |
N/A |
INTRINSIC |
|
coiled coil region
|
511 |
563 |
N/A |
INTRINSIC |
|
SMC_hinge
|
586 |
701 |
8.6e-36 |
SMART |
|
Pfam:SMC_N
|
738 |
1247 |
1.1e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136512
AA Change: D209E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000120270
Gene: ENSMUSG00000034317
AA Change: D209E
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
59 |
2.44e-8 |
SMART |
|
Pfam:zf-B_box
|
92 |
134 |
8.4e-10 |
PFAM |
|
transmembrane domain
|
329 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148385
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,942,415 (GRCm39) |
D1379E |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,260 (GRCm39) |
T1794A |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,990,216 (GRCm39) |
D779V |
probably damaging |
Het |
| Ap3b1 |
G |
T |
13: 94,679,392 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,270,012 (GRCm39) |
V379A |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,006 (GRCm39) |
Y398C |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,268,286 (GRCm39) |
R800C |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,451,046 (GRCm39) |
H306Q |
probably damaging |
Het |
| Cckar |
C |
A |
5: 53,857,378 (GRCm39) |
R344L |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,281,648 (GRCm39) |
Q2829L |
unknown |
Het |
| Egfem1 |
A |
G |
3: 29,711,302 (GRCm39) |
I237V |
possibly damaging |
Het |
| Erlec1 |
T |
A |
11: 30,900,623 (GRCm39) |
K143* |
probably null |
Het |
| Glyat |
T |
G |
19: 12,628,626 (GRCm39) |
D140E |
probably benign |
Het |
| Grhl2 |
T |
C |
15: 37,336,545 (GRCm39) |
F50L |
probably damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,373 (GRCm39) |
V151A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,023 (GRCm39) |
Y2368C |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Itga7 |
G |
T |
10: 128,777,723 (GRCm39) |
D235Y |
possibly damaging |
Het |
| Kctd3 |
C |
T |
1: 188,727,973 (GRCm39) |
V199I |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,615,443 (GRCm39) |
|
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,810,193 (GRCm39) |
|
probably benign |
Het |
| Nepro |
C |
T |
16: 44,549,668 (GRCm39) |
Q43* |
probably null |
Het |
| Ophn1 |
T |
C |
X: 97,846,720 (GRCm39) |
D74G |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,888,635 (GRCm39) |
N84S |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,672,691 (GRCm39) |
V904A |
possibly damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,466 (GRCm39) |
K330E |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,814,570 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,181 (GRCm39) |
I386S |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,609 (GRCm39) |
Y264H |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,890,687 (GRCm39) |
D375A |
probably damaging |
Het |
| Tesl1 |
C |
A |
X: 23,772,838 (GRCm39) |
A113E |
probably benign |
Het |
| Tgfbi |
A |
G |
13: 56,778,408 (GRCm39) |
D393G |
probably benign |
Het |
| Ubqln3 |
G |
T |
7: 103,792,031 (GRCm39) |
Q20K |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,168,077 (GRCm39) |
D2808G |
probably damaging |
Het |
|
| Other mutations in Trim59 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02172:Trim59
|
APN |
3 |
68,944,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03051:Trim59
|
APN |
3 |
68,944,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0865:Trim59
|
UTSW |
3 |
68,944,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Trim59
|
UTSW |
3 |
68,944,186 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1839:Trim59
|
UTSW |
3 |
68,944,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Trim59
|
UTSW |
3 |
68,944,876 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2311:Trim59
|
UTSW |
3 |
68,945,162 (GRCm39) |
nonsense |
probably null |
|
|
R3766:Trim59
|
UTSW |
3 |
68,944,137 (GRCm39) |
missense |
probably benign |
|
|
R4633:Trim59
|
UTSW |
3 |
68,944,747 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4823:Trim59
|
UTSW |
3 |
68,944,453 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5123:Trim59
|
UTSW |
3 |
68,945,067 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7125:Trim59
|
UTSW |
3 |
68,944,197 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7633:Trim59
|
UTSW |
3 |
68,945,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7892:Trim59
|
UTSW |
3 |
68,945,140 (GRCm39) |
missense |
probably benign |
|
|
R9493:Trim59
|
UTSW |
3 |
68,945,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation