Incidental Mutation 'IGL02201:Trim67'
| ID |
284204 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim67
|
| Ensembl Gene |
ENSMUSG00000036913 |
| Gene Name |
tripartite motif-containing 67 |
| Synonyms |
D130049O21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
IGL02201
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
125519831-125561452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 125520797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 53
(R53L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041106]
[ENSMUST00000167588]
[ENSMUST00000211867]
|
| AlphaFold |
Q505D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041106
AA Change: R53L
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040601
Gene: ENSMUSG00000036913
AA Change: R53L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
7 |
157 |
1.41e-4 |
SMART |
|
BBOX
|
198 |
248 |
4.65e-5 |
SMART |
|
BBOX
|
285 |
327 |
3.04e-9 |
SMART |
|
BBC
|
334 |
460 |
1.18e-28 |
SMART |
|
FN3
|
498 |
579 |
1.75e-6 |
SMART |
|
Pfam:SPRY
|
635 |
755 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167588
AA Change: R53L
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000130343
Gene: ENSMUSG00000036913
AA Change: R53L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
7 |
157 |
1.41e-4 |
SMART |
|
BBOX
|
198 |
248 |
4.65e-5 |
SMART |
|
BBOX
|
285 |
327 |
3.04e-9 |
SMART |
|
BBC
|
334 |
460 |
1.18e-28 |
SMART |
|
FN3
|
498 |
579 |
1.75e-6 |
SMART |
|
Pfam:SPRY
|
633 |
756 |
3.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211867
AA Change: R53L
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
G |
A |
1: 78,676,870 (GRCm39) |
G484R |
probably damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,459,631 (GRCm39) |
|
probably benign |
Het |
| Akr1c14 |
A |
G |
13: 4,131,022 (GRCm39) |
D238G |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,823,999 (GRCm39) |
D1418V |
probably damaging |
Het |
| Cnnm4 |
A |
T |
1: 36,511,831 (GRCm39) |
K353M |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,658,194 (GRCm39) |
F673L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dyrk1a |
A |
G |
16: 94,493,008 (GRCm39) |
E747G |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,760,683 (GRCm39) |
|
probably benign |
Het |
| Ercc6l2 |
A |
G |
13: 64,000,783 (GRCm39) |
N516D |
probably benign |
Het |
| Fbxl17 |
A |
G |
17: 63,806,024 (GRCm39) |
L330P |
probably damaging |
Het |
| Fgr |
A |
T |
4: 132,722,235 (GRCm39) |
Y168F |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,427,061 (GRCm39) |
K2962N |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,915,382 (GRCm39) |
|
probably null |
Het |
| Il1r1 |
A |
T |
1: 40,352,428 (GRCm39) |
N533Y |
probably damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,486,375 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,899,633 (GRCm39) |
P445S |
probably benign |
Het |
| Lamb2 |
G |
A |
9: 108,364,741 (GRCm39) |
C1165Y |
probably damaging |
Het |
| Nisch |
C |
T |
14: 30,909,051 (GRCm39) |
|
probably benign |
Het |
| Or1i2 |
C |
T |
10: 78,448,104 (GRCm39) |
V124M |
probably damaging |
Het |
| Or2m12 |
A |
T |
16: 19,105,212 (GRCm39) |
S94T |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,893 (GRCm39) |
D267G |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,721,420 (GRCm39) |
L33P |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,133,843 (GRCm39) |
M953K |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,274,506 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,757,890 (GRCm39) |
|
probably benign |
Het |
| Prr23a3 |
G |
T |
9: 98,747,297 (GRCm39) |
V84L |
possibly damaging |
Het |
| Psg26 |
A |
G |
7: 18,214,071 (GRCm39) |
V197A |
probably benign |
Het |
| Ptpra |
T |
A |
2: 30,336,389 (GRCm39) |
C80S |
possibly damaging |
Het |
| Ripk4 |
A |
T |
16: 97,556,377 (GRCm39) |
V122E |
possibly damaging |
Het |
| Scd2 |
A |
G |
19: 44,289,779 (GRCm39) |
N258S |
probably damaging |
Het |
| Slc38a1 |
A |
T |
15: 96,476,679 (GRCm39) |
V394E |
probably damaging |
Het |
| Slc7a15 |
A |
G |
12: 8,589,023 (GRCm39) |
S175P |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,227,942 (GRCm39) |
D1542E |
possibly damaging |
Het |
| Urah |
A |
T |
7: 140,415,576 (GRCm39) |
T38S |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,874,418 (GRCm39) |
S3362G |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,734,978 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
T |
C |
5: 34,400,549 (GRCm39) |
T50A |
probably damaging |
Het |
|
| Other mutations in Trim67 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Trim67
|
APN |
8 |
125,541,799 (GRCm39) |
splice site |
probably benign |
|
|
IGL01676:Trim67
|
APN |
8 |
125,541,899 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01779:Trim67
|
APN |
8 |
125,554,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02057:Trim67
|
APN |
8 |
125,549,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02304:Trim67
|
APN |
8 |
125,552,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Trim67
|
UTSW |
8 |
125,521,307 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0241:Trim67
|
UTSW |
8 |
125,549,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0319:Trim67
|
UTSW |
8 |
125,549,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0471:Trim67
|
UTSW |
8 |
125,521,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1171:Trim67
|
UTSW |
8 |
125,555,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1175:Trim67
|
UTSW |
8 |
125,543,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1444:Trim67
|
UTSW |
8 |
125,549,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1596:Trim67
|
UTSW |
8 |
125,552,878 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1706:Trim67
|
UTSW |
8 |
125,521,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Trim67
|
UTSW |
8 |
125,521,406 (GRCm39) |
missense |
probably benign |
|
|
R5200:Trim67
|
UTSW |
8 |
125,551,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5787:Trim67
|
UTSW |
8 |
125,521,051 (GRCm39) |
nonsense |
probably null |
|
|
R6023:Trim67
|
UTSW |
8 |
125,541,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6290:Trim67
|
UTSW |
8 |
125,549,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6536:Trim67
|
UTSW |
8 |
125,521,081 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7315:Trim67
|
UTSW |
8 |
125,521,069 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7660:Trim67
|
UTSW |
8 |
125,547,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:Trim67
|
UTSW |
8 |
125,520,801 (GRCm39) |
small deletion |
probably benign |
|
|
R8446:Trim67
|
UTSW |
8 |
125,520,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8713:Trim67
|
UTSW |
8 |
125,547,074 (GRCm39) |
missense |
probably null |
0.06 |
|
R8897:Trim67
|
UTSW |
8 |
125,552,718 (GRCm39) |
missense |
probably benign |
|
|
R9322:Trim67
|
UTSW |
8 |
125,549,967 (GRCm39) |
nonsense |
probably null |
|
|
R9430:Trim67
|
UTSW |
8 |
125,552,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9542:Trim67
|
UTSW |
8 |
125,521,497 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1088:Trim67
|
UTSW |
8 |
125,543,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation