Incidental Mutation 'IGL00899:Trim80'
ID |
28475 |
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 # |
IGL00899
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115331371-115339094 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 115338491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 440
(N440K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093914]
|
AlphaFold |
Q3V061 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093914
AA Change: N440K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000091442 Gene: ENSMUSG00000070332 AA Change: N440K
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AU018091 |
A |
G |
7: 3,208,603 (GRCm39) |
I442T |
probably benign |
Het |
Bpifb9a |
T |
C |
2: 154,106,647 (GRCm39) |
|
probably null |
Het |
Ccp110 |
T |
A |
7: 118,321,907 (GRCm39) |
C521S |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,871,218 (GRCm39) |
|
probably benign |
Het |
Cndp2 |
A |
T |
18: 84,695,501 (GRCm39) |
D133E |
probably damaging |
Het |
Crygs |
T |
C |
16: 22,625,312 (GRCm39) |
E43G |
possibly damaging |
Het |
Ednra |
C |
T |
8: 78,401,700 (GRCm39) |
G197R |
probably damaging |
Het |
Esyt1 |
A |
G |
10: 128,352,932 (GRCm39) |
L656P |
probably damaging |
Het |
Ets1 |
C |
T |
9: 32,664,104 (GRCm39) |
P118L |
probably damaging |
Het |
Fam98c |
A |
G |
7: 28,852,278 (GRCm39) |
|
probably benign |
Het |
Foxi1 |
G |
A |
11: 34,155,772 (GRCm39) |
T286I |
probably benign |
Het |
Gimap5 |
G |
A |
6: 48,730,107 (GRCm39) |
A226T |
possibly damaging |
Het |
Heatr1 |
C |
T |
13: 12,450,057 (GRCm39) |
A2017V |
probably benign |
Het |
Ikbkb |
T |
C |
8: 23,150,463 (GRCm39) |
S740G |
possibly damaging |
Het |
Inppl1 |
A |
T |
7: 101,478,365 (GRCm39) |
I617N |
probably damaging |
Het |
Itpkb |
T |
C |
1: 180,160,558 (GRCm39) |
L228P |
probably benign |
Het |
Kcnc4 |
T |
A |
3: 107,365,779 (GRCm39) |
D143V |
possibly damaging |
Het |
Krtdap |
T |
A |
7: 30,489,387 (GRCm39) |
|
probably null |
Het |
Lilra6 |
T |
A |
7: 3,916,056 (GRCm39) |
T268S |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,292,354 (GRCm39) |
E183G |
possibly damaging |
Het |
Muc5ac |
T |
A |
7: 141,366,440 (GRCm39) |
V2168D |
possibly damaging |
Het |
Nbea |
A |
G |
3: 55,550,266 (GRCm39) |
S2721P |
probably benign |
Het |
Or1j20 |
A |
T |
2: 36,760,222 (GRCm39) |
I215L |
probably benign |
Het |
Pqbp1 |
T |
C |
X: 7,762,243 (GRCm39) |
N94S |
probably benign |
Het |
Prl3d2 |
T |
C |
13: 27,306,332 (GRCm39) |
S20P |
probably damaging |
Het |
Psmb2 |
T |
C |
4: 126,601,350 (GRCm39) |
I151T |
probably benign |
Het |
Rapgef6 |
G |
T |
11: 54,510,844 (GRCm39) |
E107* |
probably null |
Het |
Slc2a13 |
T |
C |
15: 91,381,602 (GRCm39) |
T296A |
probably benign |
Het |
Tcl1b4 |
A |
G |
12: 105,170,916 (GRCm39) |
T55A |
probably damaging |
Het |
Tg |
T |
C |
15: 66,545,922 (GRCm39) |
|
probably null |
Het |
Ttc13 |
C |
T |
8: 125,415,586 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
T |
A |
15: 85,728,663 (GRCm39) |
I205N |
possibly damaging |
Het |
Ufl1 |
T |
C |
4: 25,262,238 (GRCm39) |
D336G |
probably damaging |
Het |
Vmn2r74 |
A |
T |
7: 85,606,338 (GRCm39) |
I336K |
probably benign |
Het |
Zbtb26 |
G |
T |
2: 37,326,270 (GRCm39) |
Y255* |
probably null |
Het |
Zfp462 |
T |
A |
4: 55,007,732 (GRCm39) |
V57E |
probably damaging |
Het |
|
Other mutations in Trim80 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |