Incidental Mutation 'R6808:Triml1'
| ID |
533656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Triml1
|
| Ensembl Gene |
ENSMUSG00000031651 |
| Gene Name |
tripartite motif family-like 1 |
| Synonyms |
|
| MMRRC Submission |
044921-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R6808 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
43582844-43594523 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43594258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 58
(S58P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059692]
|
| AlphaFold |
Q8BVP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059692
AA Change: S58P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
AA Change: S58P
| 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 |
|
| Meta Mutation Damage Score |
0.1370 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,098 (GRCm39) |
I53F |
probably damaging |
Het |
| Apol7b |
T |
A |
15: 77,308,873 (GRCm39) |
D75V |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,741,528 (GRCm39) |
A387T |
probably damaging |
Het |
| Cacybp |
T |
C |
1: 160,036,169 (GRCm39) |
|
probably null |
Het |
| Calcoco1 |
T |
C |
15: 102,618,875 (GRCm39) |
K444E |
probably damaging |
Het |
| Cers2 |
G |
A |
3: 95,228,320 (GRCm39) |
R120H |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,099,086 (GRCm39) |
C1587S |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 113,888,593 (GRCm39) |
K286N |
possibly damaging |
Het |
| Creld2 |
A |
G |
15: 88,709,413 (GRCm39) |
N308S |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,440,934 (GRCm39) |
S151P |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,242 (GRCm39) |
H642R |
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,665,206 (GRCm39) |
Y151C |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,079,462 (GRCm39) |
M1206K |
probably benign |
Het |
| Fam178b |
G |
A |
1: 36,639,216 (GRCm39) |
T361M |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,059,035 (GRCm39) |
F234S |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,094,064 (GRCm39) |
E13D |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,460,499 (GRCm39) |
K367E |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,589,269 (GRCm39) |
E54G |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,848,346 (GRCm39) |
I492N |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,410,923 (GRCm39) |
N140S |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,229,528 (GRCm39) |
Y168H |
probably benign |
Het |
| Mbip |
A |
C |
12: 56,384,383 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
C |
T |
1: 10,004,242 (GRCm39) |
T574I |
probably damaging |
Het |
| Or10a3b |
T |
C |
7: 108,444,747 (GRCm39) |
T157A |
probably benign |
Het |
| Or52j3 |
T |
G |
7: 102,836,511 (GRCm39) |
D234E |
probably benign |
Het |
| Or5w22 |
A |
T |
2: 87,363,285 (GRCm39) |
M303L |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,760,085 (GRCm39) |
I225N |
probably damaging |
Het |
| Or8g33 |
T |
C |
9: 39,337,836 (GRCm39) |
Y177C |
probably damaging |
Het |
| Or9s27 |
A |
T |
1: 92,516,768 (GRCm39) |
R239W |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,287,957 (GRCm39) |
*1148Q |
probably null |
Het |
| Phactr1 |
T |
A |
13: 43,286,445 (GRCm39) |
I582N |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,502,762 (GRCm39) |
L714R |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,822,179 (GRCm39) |
E6G |
possibly damaging |
Het |
| Skic3 |
T |
C |
13: 76,333,298 (GRCm39) |
S1516P |
probably damaging |
Het |
| Sptlc2 |
G |
A |
12: 87,397,069 (GRCm39) |
T239I |
possibly damaging |
Het |
| Tmc1 |
A |
T |
19: 20,772,880 (GRCm39) |
V707D |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,971,734 (GRCm39) |
E827V |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,347,687 (GRCm39) |
H2022R |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTTGACTTGGAGGTGAG -3'
(R):5'- CCAGAAGTGTAGCCTTGTCCTG -3'
Sequencing Primer
(F):5'- GGTGAGACATTAATGACACTCTGCTC -3'
(R):5'- GTCCTGATGTCCAACCATGAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation