Incidental Mutation 'IGL00768:Triml1'
| ID |
14583 |
| 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 # |
IGL00768
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
43582844-43594523 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 43593998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059692]
|
| AlphaFold |
Q8BVP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059692
|
| SMART Domains |
Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,766,409 (GRCm39) |
V888I |
probably benign |
Het |
| Apob |
A |
T |
12: 8,052,107 (GRCm39) |
N1170Y |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,461,012 (GRCm39) |
D213G |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,659,611 (GRCm39) |
S445G |
probably benign |
Het |
| Dgkb |
A |
C |
12: 38,477,478 (GRCm39) |
E629D |
probably benign |
Het |
| Gabra3 |
T |
C |
X: 71,519,903 (GRCm39) |
H188R |
probably benign |
Het |
| Gak |
G |
T |
5: 108,724,520 (GRCm39) |
H1063Q |
probably benign |
Het |
| Gm382 |
C |
T |
X: 125,968,366 (GRCm39) |
Q184* |
probably null |
Het |
| Gpr160 |
T |
A |
3: 30,950,098 (GRCm39) |
Y57N |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,635,111 (GRCm39) |
V385A |
possibly damaging |
Het |
| Khdc1b |
A |
T |
1: 21,454,405 (GRCm39) |
D36V |
probably benign |
Het |
| Tmem67 |
A |
G |
4: 12,055,029 (GRCm39) |
|
probably null |
Het |
| Tmpo |
G |
A |
10: 91,000,068 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Triml1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00920:Triml1
|
APN |
8 |
43,591,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-12-06 |
Incidental Mutation