Incidental Mutation 'IGL00921:Trim80'
ID |
28519 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim80
|
Ensembl Gene |
ENSMUSG00000070332 |
Gene Name |
tripartite motif-containing 80 |
Synonyms |
4933422H20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
IGL00921
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115331371-115339094 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115338490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 440
(N440S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093914]
|
AlphaFold |
Q3V061 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093914
AA Change: N440S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000091442 Gene: ENSMUSG00000070332 AA Change: N440S
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,324,888 (GRCm39) |
I1530T |
probably damaging |
Het |
Actb |
T |
C |
5: 142,890,191 (GRCm39) |
E237G |
probably damaging |
Het |
Atrnl1 |
A |
G |
19: 57,690,585 (GRCm39) |
E931G |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,185,387 (GRCm39) |
T375A |
probably benign |
Het |
D1Pas1 |
A |
G |
1: 186,700,983 (GRCm39) |
D304G |
probably benign |
Het |
Ddx49 |
G |
A |
8: 70,747,406 (GRCm39) |
Q345* |
probably null |
Het |
Dnttip2 |
A |
T |
3: 122,068,939 (GRCm39) |
K51N |
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,543,066 (GRCm39) |
E621G |
probably damaging |
Het |
Grhpr |
A |
G |
4: 44,988,991 (GRCm39) |
D216G |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Hook2 |
T |
C |
8: 85,729,126 (GRCm39) |
|
probably benign |
Het |
Hspbp1 |
A |
G |
7: 4,667,750 (GRCm39) |
S248P |
probably damaging |
Het |
Kat6a |
C |
T |
8: 23,430,279 (GRCm39) |
P1878L |
unknown |
Het |
Klrg1 |
A |
T |
6: 122,259,711 (GRCm39) |
D20E |
probably benign |
Het |
Layn |
G |
A |
9: 50,968,708 (GRCm39) |
T345I |
probably damaging |
Het |
Mpi |
G |
A |
9: 57,459,549 (GRCm39) |
L9F |
probably damaging |
Het |
Nbn |
T |
C |
4: 15,963,833 (GRCm39) |
V78A |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,701,427 (GRCm39) |
I1503T |
probably damaging |
Het |
Pou2f2 |
C |
A |
7: 24,792,125 (GRCm39) |
E577* |
probably null |
Het |
Prim2 |
G |
T |
1: 33,551,241 (GRCm39) |
H292Q |
probably damaging |
Het |
Tg |
A |
G |
15: 66,636,302 (GRCm39) |
N630D |
probably benign |
Het |
Ttn |
T |
C |
2: 76,766,746 (GRCm39) |
S3111G |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,447,160 (GRCm39) |
T339A |
probably benign |
Het |
Zbtb21 |
A |
C |
16: 97,753,222 (GRCm39) |
S354A |
probably damaging |
Het |
Zfp335 |
T |
C |
2: 164,736,696 (GRCm39) |
T980A |
possibly damaging |
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 |
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 |
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 |
|
Posted On |
2013-04-17 |