Incidental Mutation 'IGL02057:Trim67'
ID |
185273 |
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 # |
IGL02057
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
125519831-125561452 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 125549869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 500
(V500I)
|
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: V500I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000040601 Gene: ENSMUSG00000036913 AA Change: V500I
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: V500I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000130343 Gene: ENSMUSG00000036913 AA Change: V500I
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: V500I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
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 |
IGL02201:Trim67
|
APN |
8 |
125,520,797 (GRCm39) |
missense |
probably benign |
0.26 |
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 |
2014-05-07 |