Incidental Mutation 'IGL02394:Triml1'
ID |
293922 |
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 # |
IGL02394
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
43582844-43594523 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43591629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 243
(Q243L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059692]
|
AlphaFold |
Q8BVP1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059692
AA Change: Q243L
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000050267 Gene: ENSMUSG00000031651 AA Change: Q243L
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt3 |
G |
A |
1: 176,886,985 (GRCm39) |
T288M |
probably damaging |
Het |
Baat |
A |
T |
4: 49,489,812 (GRCm39) |
|
probably benign |
Het |
Bclaf3 |
A |
G |
X: 158,338,485 (GRCm39) |
Y444C |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,629,459 (GRCm39) |
T166A |
probably damaging |
Het |
Cep135 |
C |
T |
5: 76,779,318 (GRCm39) |
T776I |
probably benign |
Het |
Clasrp |
A |
G |
7: 19,337,179 (GRCm39) |
L12P |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp4f15 |
A |
G |
17: 32,911,609 (GRCm39) |
I164V |
possibly damaging |
Het |
Eps15 |
T |
A |
4: 109,170,162 (GRCm39) |
L155M |
probably damaging |
Het |
Fbxl20 |
G |
A |
11: 98,004,082 (GRCm39) |
R69W |
probably damaging |
Het |
Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
Gemin2 |
T |
A |
12: 59,060,842 (GRCm39) |
|
probably null |
Het |
Gm20521 |
T |
A |
14: 55,135,499 (GRCm39) |
Y175N |
probably damaging |
Het |
Gm3298 |
T |
A |
14: 5,018,778 (GRCm38) |
C178S |
probably benign |
Het |
Gpr37l1 |
T |
C |
1: 135,094,746 (GRCm39) |
N166S |
probably damaging |
Het |
Gpr45 |
A |
G |
1: 43,069,272 (GRCm39) |
|
probably benign |
Het |
Gpr75 |
T |
C |
11: 30,842,190 (GRCm39) |
I365T |
possibly damaging |
Het |
Gsdmc2 |
T |
C |
15: 63,707,729 (GRCm39) |
R22G |
probably damaging |
Het |
Il23r |
T |
C |
6: 67,443,256 (GRCm39) |
|
probably benign |
Het |
Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
Klk1b24 |
A |
G |
7: 43,841,294 (GRCm39) |
D209G |
possibly damaging |
Het |
Med13l |
A |
C |
5: 118,886,898 (GRCm39) |
T1600P |
probably benign |
Het |
Muc16 |
G |
T |
9: 18,409,996 (GRCm39) |
H137Q |
probably damaging |
Het |
Nin |
T |
C |
12: 70,090,805 (GRCm39) |
E870G |
probably damaging |
Het |
Or12k7 |
A |
G |
2: 36,958,497 (GRCm39) |
Y60C |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,228 (GRCm39) |
N174D |
probably damaging |
Het |
Or6c215 |
A |
T |
10: 129,638,182 (GRCm39) |
F71I |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,269,710 (GRCm39) |
K3278R |
possibly damaging |
Het |
Prlr |
A |
G |
15: 10,328,664 (GRCm39) |
N380D |
probably benign |
Het |
Rpgr |
A |
C |
X: 10,032,456 (GRCm39) |
S582R |
probably benign |
Het |
Rph3a |
T |
C |
5: 121,084,411 (GRCm39) |
|
probably null |
Het |
Setd5 |
A |
G |
6: 113,087,859 (GRCm39) |
H140R |
probably benign |
Het |
Stoml3 |
C |
A |
3: 53,405,540 (GRCm39) |
|
probably benign |
Het |
Teddm1a |
A |
C |
1: 153,767,545 (GRCm39) |
D3A |
probably benign |
Het |
Tmem207 |
A |
G |
16: 26,335,586 (GRCm39) |
|
probably benign |
Het |
Usp5 |
G |
A |
6: 124,799,672 (GRCm39) |
T274M |
probably damaging |
Het |
Vav2 |
A |
G |
2: 27,187,671 (GRCm39) |
|
probably benign |
Het |
Wdr5b |
A |
G |
16: 35,862,633 (GRCm39) |
N251D |
probably damaging |
Het |
Wnk2 |
C |
A |
13: 49,235,375 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |
2015-04-16 |