Incidental Mutation 'R5680:Trim40'
| ID |
442998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim40
|
| Ensembl Gene |
ENSMUSG00000073399 |
| Gene Name |
tripartite motif-containing 40 |
| Synonyms |
LOC240093, LOC333872, LOC195359 |
| MMRRC Submission |
043177-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37192490-37201015 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37199874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 68
(I68N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087158]
[ENSMUST00000172711]
|
| AlphaFold |
Q3UWA4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087158
AA Change: I68N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399
AA Change: I68N
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
54 |
6e-8 |
SMART |
|
Pfam:zf-B_box
|
65 |
105 |
1.1e-6 |
PFAM |
|
coiled coil region
|
106 |
150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172640
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172711
AA Change: I68N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399
AA Change: I68N
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
54 |
6e-8 |
SMART |
|
Pfam:zf-B_box
|
65 |
105 |
3.4e-7 |
PFAM |
|
coiled coil region
|
106 |
150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174107
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,127,471 (GRCm39) |
F362S |
possibly damaging |
Het |
| Adcy1 |
G |
A |
11: 7,059,020 (GRCm39) |
V309M |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,923,880 (GRCm39) |
K752E |
unknown |
Het |
| Ahdc1 |
T |
A |
4: 132,792,907 (GRCm39) |
F1383I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Atn1 |
A |
T |
6: 124,724,778 (GRCm39) |
S152T |
possibly damaging |
Het |
| Bcl11a |
G |
A |
11: 24,114,264 (GRCm39) |
V536M |
possibly damaging |
Het |
| Cdc20 |
T |
C |
4: 118,290,264 (GRCm39) |
T466A |
probably damaging |
Het |
| Cecr2 |
C |
G |
6: 120,738,387 (GRCm39) |
T1010R |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,814,879 (GRCm39) |
L1318* |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,126,508 (GRCm39) |
V1273A |
probably damaging |
Het |
| G3bp2 |
T |
C |
5: 92,216,219 (GRCm39) |
R106G |
probably damaging |
Het |
| Ggt7 |
A |
T |
2: 155,348,353 (GRCm39) |
C100S |
probably damaging |
Het |
| Grik4 |
A |
T |
9: 42,540,415 (GRCm39) |
M255K |
probably benign |
Het |
| Kcnj11 |
A |
T |
7: 45,748,232 (GRCm39) |
S364T |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,799,444 (GRCm39) |
Y70* |
probably null |
Het |
| Mark1 |
T |
C |
1: 184,677,013 (GRCm39) |
H79R |
probably damaging |
Het |
| Mdfic2 |
T |
A |
6: 98,225,187 (GRCm39) |
Q32L |
probably damaging |
Het |
| Myo9b |
T |
G |
8: 71,743,016 (GRCm39) |
S26A |
probably benign |
Het |
| Pa2g4 |
G |
T |
10: 128,395,326 (GRCm39) |
N306K |
probably benign |
Het |
| Pik3c3 |
T |
A |
18: 30,410,166 (GRCm39) |
Y133* |
probably null |
Het |
| Prpf6 |
G |
T |
2: 181,290,933 (GRCm39) |
A675S |
probably damaging |
Het |
| Psca |
A |
G |
15: 74,587,948 (GRCm39) |
D44G |
probably benign |
Het |
| Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,453,202 (GRCm39) |
L1231P |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,458,172 (GRCm39) |
S157P |
probably benign |
Het |
| Slc27a2 |
A |
T |
2: 126,403,530 (GRCm39) |
R184S |
probably benign |
Het |
| Tagln2 |
T |
C |
1: 172,333,479 (GRCm39) |
F111S |
probably damaging |
Het |
| Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,481,887 (GRCm39) |
D696G |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,790,470 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
G |
A |
17: 71,996,204 (GRCm39) |
R68K |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,946,078 (GRCm39) |
M1018V |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,839,884 (GRCm39) |
N322K |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,820,779 (GRCm39) |
T52S |
probably benign |
Het |
| Vmn2r90 |
T |
G |
17: 17,947,034 (GRCm39) |
V437G |
possibly damaging |
Het |
| Vps16 |
C |
A |
2: 130,282,244 (GRCm39) |
H389N |
possibly damaging |
Het |
|
| Other mutations in Trim40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Trim40
|
APN |
17 |
37,193,289 (GRCm39) |
makesense |
probably null |
|
|
IGL01085:Trim40
|
APN |
17 |
37,194,133 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02071:Trim40
|
APN |
17 |
37,200,070 (GRCm39) |
missense |
probably benign |
|
|
IGL02343:Trim40
|
APN |
17 |
37,200,030 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0116:Trim40
|
UTSW |
17 |
37,194,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1853:Trim40
|
UTSW |
17 |
37,199,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2216:Trim40
|
UTSW |
17 |
37,199,875 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4649:Trim40
|
UTSW |
17 |
37,193,531 (GRCm39) |
splice site |
probably null |
|
|
R4903:Trim40
|
UTSW |
17 |
37,194,117 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5384:Trim40
|
UTSW |
17 |
37,199,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5969:Trim40
|
UTSW |
17 |
37,193,319 (GRCm39) |
missense |
probably benign |
|
|
R6830:Trim40
|
UTSW |
17 |
37,199,742 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7008:Trim40
|
UTSW |
17 |
37,194,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7112:Trim40
|
UTSW |
17 |
37,193,534 (GRCm39) |
missense |
probably null |
1.00 |
|
R7283:Trim40
|
UTSW |
17 |
37,193,554 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8288:Trim40
|
UTSW |
17 |
37,194,210 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9742:Trim40
|
UTSW |
17 |
37,199,902 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTACCAAGCCTCTGTGAGGATC -3'
(R):5'- TGGGCTCTCTTGACAAGGAC -3'
Sequencing Primer
(F):5'- CAAGCCTCTGTGAGGATCTGAAC -3'
(R):5'- AGGACAACCAGGACATTTGTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation