Incidental Mutation 'IGL00920:Triml1'
ID |
28014 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Triml1
|
Ensembl Gene |
ENSMUSG00000031651 |
Gene Name |
tripartite motif family-like 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
IGL00920
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
43582844-43594523 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43591719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 213
(N213S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059692]
|
AlphaFold |
Q8BVP1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059692
AA Change: N213S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050267 Gene: ENSMUSG00000031651 AA Change: N213S
Domain | Start | End | E-Value | Type |
RING
|
22 |
62 |
1.14e-8 |
SMART |
coiled coil region
|
196 |
235 |
N/A |
INTRINSIC |
PRY
|
291 |
343 |
4.64e-23 |
SMART |
Pfam:SPRY
|
346 |
462 |
6.6e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211541
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd209e |
T |
C |
8: 3,899,187 (GRCm39) |
D175G |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,958,850 (GRCm39) |
I165V |
probably benign |
Het |
Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,507,599 (GRCm39) |
T357A |
probably benign |
Het |
Gm42416 |
T |
A |
18: 37,085,820 (GRCm39) |
M1K |
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kcnh5 |
A |
T |
12: 75,023,267 (GRCm39) |
D600E |
probably damaging |
Het |
Msantd5f1 |
T |
A |
4: 73,605,679 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
A |
G |
3: 125,231,860 (GRCm39) |
D143G |
probably damaging |
Het |
Nrros |
A |
G |
16: 31,966,438 (GRCm39) |
F14S |
probably benign |
Het |
Or5g9 |
A |
T |
2: 85,552,583 (GRCm39) |
Y278F |
probably damaging |
Het |
Or8g2b |
T |
C |
9: 39,751,230 (GRCm39) |
F167L |
probably benign |
Het |
Pcdh7 |
A |
T |
5: 57,877,473 (GRCm39) |
I343F |
probably damaging |
Het |
Piwil4 |
C |
T |
9: 14,638,733 (GRCm39) |
R264H |
probably damaging |
Het |
Pnpt1 |
A |
G |
11: 29,107,087 (GRCm39) |
|
probably benign |
Het |
Pycr2 |
T |
A |
1: 180,733,958 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,500,638 (GRCm39) |
Y133N |
probably damaging |
Het |
Slc17a3 |
A |
G |
13: 24,040,464 (GRCm39) |
I263V |
probably benign |
Het |
Spink5 |
A |
T |
18: 44,136,276 (GRCm39) |
E562D |
probably damaging |
Het |
Spty2d1 |
T |
C |
7: 46,648,735 (GRCm39) |
R65G |
probably damaging |
Het |
Thbs1 |
C |
T |
2: 117,943,682 (GRCm39) |
T100I |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,272,219 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,995,890 (GRCm39) |
I253V |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,462,786 (GRCm39) |
V798I |
unknown |
Het |
Zfp608 |
C |
T |
18: 55,022,903 (GRCm39) |
M1504I |
probably benign |
Het |
|
Other mutations in Triml1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00768:Triml1
|
APN |
8 |
43,593,998 (GRCm39) |
splice site |
probably benign |
|
IGL01319:Triml1
|
APN |
8 |
43,594,434 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01323:Triml1
|
APN |
8 |
43,591,600 (GRCm39) |
splice site |
probably null |
|
IGL01998:Triml1
|
APN |
8 |
43,594,350 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02394:Triml1
|
APN |
8 |
43,591,629 (GRCm39) |
missense |
possibly damaging |
0.57 |
R0359:Triml1
|
UTSW |
8 |
43,583,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R0400:Triml1
|
UTSW |
8 |
43,594,077 (GRCm39) |
missense |
probably benign |
0.03 |
R1799:Triml1
|
UTSW |
8 |
43,583,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R2008:Triml1
|
UTSW |
8 |
43,583,642 (GRCm39) |
missense |
probably damaging |
0.97 |
R2363:Triml1
|
UTSW |
8 |
43,594,408 (GRCm39) |
missense |
probably damaging |
0.99 |
R2405:Triml1
|
UTSW |
8 |
43,583,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R5333:Triml1
|
UTSW |
8 |
43,583,327 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6093:Triml1
|
UTSW |
8 |
43,593,755 (GRCm39) |
missense |
probably benign |
0.04 |
R6244:Triml1
|
UTSW |
8 |
43,591,793 (GRCm39) |
nonsense |
probably null |
|
R6808:Triml1
|
UTSW |
8 |
43,594,258 (GRCm39) |
missense |
probably damaging |
0.99 |
R6860:Triml1
|
UTSW |
8 |
43,583,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R7231:Triml1
|
UTSW |
8 |
43,589,408 (GRCm39) |
missense |
probably benign |
|
R7826:Triml1
|
UTSW |
8 |
43,591,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8054:Triml1
|
UTSW |
8 |
43,583,420 (GRCm39) |
missense |
probably damaging |
0.99 |
R8100:Triml1
|
UTSW |
8 |
43,591,717 (GRCm39) |
missense |
probably benign |
|
R8234:Triml1
|
UTSW |
8 |
43,594,285 (GRCm39) |
missense |
probably benign |
0.25 |
R9135:Triml1
|
UTSW |
8 |
43,583,624 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Triml1
|
UTSW |
8 |
43,583,435 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Triml1
|
UTSW |
8 |
43,593,742 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Posted On |
2013-04-17 |