Incidental Mutation 'R0019:Trim80'
| ID |
201353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim80
|
| Ensembl Gene |
ENSMUSG00000070332 |
| Gene Name |
tripartite motif-containing 80 |
| Synonyms |
4933422H20Rik |
| MMRRC Submission |
038314-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R0019 (G1)
|
| Quality Score |
40 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115331371-115339094 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 115338768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 533
(Y533D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093914]
|
| AlphaFold |
Q3V061 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093914
AA Change: Y533D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: Y533D
| 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: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
T |
A |
8: 46,974,287 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
A |
5: 114,924,142 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,064,795 (GRCm39) |
V737D |
probably damaging |
Het |
| Dhx37 |
C |
A |
5: 125,507,098 (GRCm39) |
G133C |
probably benign |
Het |
| Espl1 |
A |
C |
15: 102,214,754 (GRCm39) |
Q765P |
probably null |
Het |
| Fasn |
A |
T |
11: 120,698,824 (GRCm39) |
|
probably benign |
Het |
| Fshb |
T |
C |
2: 106,887,690 (GRCm39) |
S110G |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,475,620 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,862,050 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
C |
T |
1: 40,164,210 (GRCm39) |
T359M |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,584,330 (GRCm39) |
R905* |
probably null |
Het |
| Myh7 |
T |
A |
14: 55,221,191 (GRCm39) |
N911Y |
possibly damaging |
Het |
| Nfatc1 |
C |
A |
18: 80,678,719 (GRCm39) |
V890L |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,577,017 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,241,932 (GRCm39) |
L273M |
probably damaging |
Het |
| Pycr3 |
A |
G |
15: 75,791,155 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,003,769 (GRCm39) |
V1737A |
possibly damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,935 (GRCm39) |
L186S |
probably damaging |
Het |
| Trim69 |
A |
T |
2: 122,004,958 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
C |
4: 43,096,990 (GRCm39) |
I121T |
possibly damaging |
Het |
| Vinac1 |
G |
T |
2: 128,880,946 (GRCm39) |
H327N |
probably benign |
Het |
| Ywhab |
T |
A |
2: 163,858,090 (GRCm39) |
I219N |
probably damaging |
Het |
| Zfp560 |
G |
A |
9: 20,259,656 (GRCm39) |
S402L |
probably benign |
Het |
| Zfp943 |
C |
T |
17: 22,211,070 (GRCm39) |
|
probably benign |
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 |
|
R0409:Trim80
|
UTSW |
11 |
115,332,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1069:Trim80
|
UTSW |
11 |
115,338,909 (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'- TGAACTTGGGCATCCTTCTGGAGC -3'
(R):5'- GCAAACTGAACTTTGACCCCTGCAC -3'
Sequencing Primer
(F):5'- TTCTGGAGCCCTCGACC -3'
(R):5'- ACTTTATTGGCAGCAAGCCTG -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation