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: 0.167)
|
| 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 |
Incidental Mutation