Incidental Mutation 'R1069:Trim80'
| ID |
86135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim80
|
| Ensembl Gene |
ENSMUSG00000070332 |
| Gene Name |
tripartite motif-containing 80 |
| Synonyms |
4933422H20Rik |
| MMRRC Submission |
039155-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115331371-115339094 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115338909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 580
(C580R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093914]
|
| AlphaFold |
Q3V061 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093914
AA Change: C580R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: C580R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
RING
|
71 |
114 |
4.48e-7 |
SMART |
|
Blast:BBOX
|
154 |
202 |
7e-22 |
BLAST |
|
Pfam:zf-B_box
|
207 |
246 |
2.2e-10 |
PFAM |
|
Blast:PRY
|
441 |
496 |
2e-18 |
BLAST |
|
Pfam:SPRY
|
499 |
621 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175355
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,624,037 (GRCm39) |
N106S |
probably benign |
Het |
| Akr1c21 |
C |
A |
13: 4,625,333 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,085 (GRCm39) |
R1570C |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,366,852 (GRCm39) |
R249C |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,345,623 (GRCm39) |
R252I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,844 (GRCm39) |
T480A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,442,971 (GRCm39) |
C745* |
probably null |
Het |
| Ccr8 |
A |
G |
9: 119,923,283 (GRCm39) |
I133V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dgkq |
T |
C |
5: 108,803,903 (GRCm39) |
|
probably benign |
Het |
| Ecd |
A |
G |
14: 20,383,504 (GRCm39) |
C312R |
probably damaging |
Het |
| Eddm13 |
A |
T |
7: 6,258,921 (GRCm39) |
|
probably null |
Het |
| Gstm1 |
T |
C |
3: 107,920,064 (GRCm39) |
S226G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hacd4 |
T |
A |
4: 88,355,739 (GRCm39) |
I49L |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,247,591 (GRCm39) |
N269S |
probably damaging |
Het |
| Ifitm3 |
A |
T |
7: 140,589,813 (GRCm39) |
|
probably benign |
Het |
| Kctd9 |
C |
T |
14: 67,966,869 (GRCm39) |
|
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,928,251 (GRCm39) |
L1131P |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,035,350 (GRCm39) |
T33A |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,730,819 (GRCm39) |
T38A |
probably benign |
Het |
| Lrguk |
A |
C |
6: 34,025,818 (GRCm39) |
I205L |
possibly damaging |
Het |
| Mir100hg |
G |
A |
9: 41,501,594 (GRCm39) |
R151H |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,272 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,916,724 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,018,870 (GRCm39) |
K635* |
probably null |
Het |
| Sap130 |
G |
A |
18: 31,844,682 (GRCm39) |
V898I |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,788 (GRCm39) |
R7K |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,284,136 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
|
| Other mutations in Trim80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Trim80
|
APN |
11 |
115,338,491 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL00921:Trim80
|
APN |
11 |
115,338,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02948:Trim80
|
APN |
11 |
115,332,419 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03037:Trim80
|
APN |
11 |
115,332,419 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0019:Trim80
|
UTSW |
11 |
115,338,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Trim80
|
UTSW |
11 |
115,338,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0409:Trim80
|
UTSW |
11 |
115,332,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Trim80
|
UTSW |
11 |
115,337,619 (GRCm39) |
missense |
probably benign |
|
|
R1952:Trim80
|
UTSW |
11 |
115,332,155 (GRCm39) |
nonsense |
probably null |
|
|
R2892:Trim80
|
UTSW |
11 |
115,338,849 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4301:Trim80
|
UTSW |
11 |
115,335,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4748:Trim80
|
UTSW |
11 |
115,338,964 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4795:Trim80
|
UTSW |
11 |
115,338,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4819:Trim80
|
UTSW |
11 |
115,338,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Trim80
|
UTSW |
11 |
115,337,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5245:Trim80
|
UTSW |
11 |
115,332,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Trim80
|
UTSW |
11 |
115,338,843 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5384:Trim80
|
UTSW |
11 |
115,338,843 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5386:Trim80
|
UTSW |
11 |
115,338,843 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5508:Trim80
|
UTSW |
11 |
115,335,904 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5645:Trim80
|
UTSW |
11 |
115,337,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Trim80
|
UTSW |
11 |
115,337,301 (GRCm39) |
nonsense |
probably null |
|
|
R5822:Trim80
|
UTSW |
11 |
115,338,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6754:Trim80
|
UTSW |
11 |
115,339,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Trim80
|
UTSW |
11 |
115,332,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6788:Trim80
|
UTSW |
11 |
115,338,843 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7336:Trim80
|
UTSW |
11 |
115,332,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Trim80
|
UTSW |
11 |
115,332,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8386:Trim80
|
UTSW |
11 |
115,335,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8955:Trim80
|
UTSW |
11 |
115,331,538 (GRCm39) |
missense |
probably benign |
|
|
R9764:Trim80
|
UTSW |
11 |
115,338,757 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCAACATCGTCTACCTGCTG -3'
(R):5'- TGGGCCACCGACTTTCATTCTTAAC -3'
Sequencing Primer
(F):5'- GTCTACCTGCTGGGCCG -3'
(R):5'- TTCTGCCCTGGGAACAATGAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation