Incidental Mutation 'R8386:Trim80'
| ID |
647173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim80
|
| Ensembl Gene |
ENSMUSG00000070332 |
| Gene Name |
tripartite motif-containing 80 |
| Synonyms |
4933422H20Rik |
| MMRRC Submission |
067752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115331371-115339094 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115335900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 274
(D274G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093914]
|
| AlphaFold |
Q3V061 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093914
AA Change: D274G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: D274G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,021,518 (GRCm39) |
A1064D |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,226,048 (GRCm39) |
I1390T |
probably damaging |
Het |
| Aktip |
G |
A |
8: 91,857,674 (GRCm39) |
R13C |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,996,747 (GRCm39) |
I71F |
probably damaging |
Het |
| Casr |
T |
A |
16: 36,335,950 (GRCm39) |
I120F |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,073,029 (GRCm39) |
R544S |
probably damaging |
Het |
| Cse1l |
T |
C |
2: 166,761,604 (GRCm39) |
S53P |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,527,488 (GRCm39) |
S207P |
probably damaging |
Het |
| Fam120b |
G |
A |
17: 15,643,246 (GRCm39) |
S675N |
probably benign |
Het |
| Fcna |
C |
T |
2: 25,516,027 (GRCm39) |
W163* |
probably null |
Het |
| Gast |
A |
G |
11: 100,227,691 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv6-14 |
T |
C |
6: 70,411,966 (GRCm39) |
Y106C |
probably damaging |
Het |
| Lin28b |
A |
G |
10: 45,345,140 (GRCm39) |
V62A |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,701,655 (GRCm39) |
S757T |
unknown |
Het |
| Ms4a15 |
A |
T |
19: 10,970,546 (GRCm39) |
C3S |
unknown |
Het |
| Muc5ac |
G |
A |
7: 141,361,371 (GRCm39) |
V1561I |
possibly damaging |
Het |
| Ndufb11b |
C |
T |
15: 81,864,830 (GRCm39) |
L24F |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5p70 |
TTTCTTCTTCT |
TTTCTTCT |
7: 107,994,555 (GRCm39) |
|
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,338 (GRCm39) |
D144G |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,282,319 (GRCm39) |
V149D |
unknown |
Het |
| Shcbp1 |
A |
C |
8: 4,817,951 (GRCm39) |
W115G |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,230 (GRCm39) |
K631M |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,832 (GRCm39) |
S168R |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,250 (GRCm39) |
N314K |
probably damaging |
Het |
| Syngap1 |
T |
A |
17: 27,179,465 (GRCm39) |
M755K |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,317,823 (GRCm39) |
D11G |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,460,403 (GRCm39) |
T2555A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,678,483 (GRCm39) |
|
probably null |
Het |
| Wnt7a |
C |
T |
6: 91,343,270 (GRCm39) |
G204D |
probably damaging |
Het |
| Zfp420 |
A |
T |
7: 29,575,043 (GRCm39) |
Y421F |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,667,962 (GRCm39) |
H263R |
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 |
|
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 |
|
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'- ATACACTTGCTCTTCTACCCTGG -3'
(R):5'- TCTGAGGTAGATGTGCAGGGAG -3'
Sequencing Primer
(F):5'- CCCTGGTCTTGGGTTCACTAAAG -3'
(R):5'- TGTACTCCACTATACTGGTCCAAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation