Incidental Mutation 'R3901:Trim7'
| ID |
308988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim7
|
| Ensembl Gene |
ENSMUSG00000040350 |
| Gene Name |
tripartite motif-containing 7 |
| Synonyms |
|
| MMRRC Submission |
040810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R3901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
48716965-48742019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48728435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 28
(T28S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046903]
[ENSMUST00000109213]
[ENSMUST00000129674]
[ENSMUST00000149049]
[ENSMUST00000155478]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046903
AA Change: T28S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039011
Gene: ENSMUSG00000040350
AA Change: T28S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
RING
|
29 |
80 |
2.95e-7 |
SMART |
|
BBOX
|
124 |
165 |
3.23e-13 |
SMART |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
coiled coil region
|
246 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
304 |
N/A |
INTRINSIC |
|
PRY
|
340 |
392 |
4.61e-18 |
SMART |
|
SPRY
|
393 |
506 |
1.63e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109213
|
| SMART Domains |
Protein: ENSMUSP00000104836
Gene: ENSMUSG00000040350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
coiled coil region
|
39 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
97 |
N/A |
INTRINSIC |
|
PRY
|
133 |
185 |
4.61e-18 |
SMART |
|
SPRY
|
186 |
299 |
1.63e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129674
|
| SMART Domains |
Protein: ENSMUSP00000116067
Gene: ENSMUSG00000040350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149049
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155478
AA Change: T28S
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118669
Gene: ENSMUSG00000040350
AA Change: T28S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
RING
|
29 |
80 |
2.95e-7 |
SMART |
|
BBOX
|
124 |
165 |
3.23e-13 |
SMART |
|
low complexity region
|
221 |
238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216796
|
| Meta Mutation Damage Score |
0.1512 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (39/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,226,726 (GRCm39) |
D1109V |
possibly damaging |
Het |
| Apc2 |
G |
C |
10: 80,150,922 (GRCm39) |
R1992P |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Casp16 |
A |
T |
17: 23,771,922 (GRCm39) |
V101E |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Clec7a |
A |
G |
6: 129,445,877 (GRCm39) |
S98P |
possibly damaging |
Het |
| Cpne5 |
G |
A |
17: 29,378,082 (GRCm39) |
R566C |
unknown |
Het |
| Csrnp1 |
C |
T |
9: 119,801,707 (GRCm39) |
E451K |
probably damaging |
Het |
| Dlst |
A |
G |
12: 85,179,465 (GRCm39) |
T435A |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,078,269 (GRCm39) |
T525A |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,939,070 (GRCm39) |
T45A |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,974,713 (GRCm39) |
N5307S |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,357,539 (GRCm39) |
Y820H |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,199,083 (GRCm39) |
N1395I |
probably damaging |
Het |
| Fcnb |
T |
A |
2: 27,969,208 (GRCm39) |
Y163F |
probably damaging |
Het |
| Gm5444 |
T |
C |
13: 4,884,278 (GRCm39) |
|
noncoding transcript |
Het |
| Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,360 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,555,323 (GRCm39) |
I416T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,144 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,712,707 (GRCm39) |
V3095A |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,475,346 (GRCm39) |
*372W |
probably null |
Het |
| Or7d11 |
C |
T |
9: 19,966,169 (GRCm39) |
V197I |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pgap1 |
C |
T |
1: 54,532,507 (GRCm39) |
V671I |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 119,999,085 (GRCm39) |
S760G |
probably benign |
Het |
| Plk3 |
T |
C |
4: 116,990,633 (GRCm39) |
I94V |
probably benign |
Het |
| Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Rims1 |
T |
A |
1: 22,572,578 (GRCm39) |
Q541L |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,664 (GRCm39) |
Q999R |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,645,163 (GRCm39) |
L911P |
probably damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,362,753 (GRCm39) |
|
probably benign |
Het |
| Zfp595 |
T |
C |
13: 67,465,379 (GRCm39) |
I295V |
probably benign |
Het |
|
| Other mutations in Trim7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Trim7
|
APN |
11 |
48,736,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00476:Trim7
|
APN |
11 |
48,738,905 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0119:Trim7
|
UTSW |
11 |
48,740,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Trim7
|
UTSW |
11 |
48,740,328 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0546:Trim7
|
UTSW |
11 |
48,736,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:Trim7
|
UTSW |
11 |
48,728,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1081:Trim7
|
UTSW |
11 |
48,740,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Trim7
|
UTSW |
11 |
48,729,721 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3796:Trim7
|
UTSW |
11 |
48,736,497 (GRCm39) |
splice site |
probably null |
|
|
R3797:Trim7
|
UTSW |
11 |
48,736,497 (GRCm39) |
splice site |
probably null |
|
|
R4157:Trim7
|
UTSW |
11 |
48,738,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4603:Trim7
|
UTSW |
11 |
48,728,355 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R5429:Trim7
|
UTSW |
11 |
48,740,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Trim7
|
UTSW |
11 |
48,736,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5988:Trim7
|
UTSW |
11 |
48,728,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7960:Trim7
|
UTSW |
11 |
48,728,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8100:Trim7
|
UTSW |
11 |
48,740,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9121:Trim7
|
UTSW |
11 |
48,740,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Trim7
|
UTSW |
11 |
48,736,281 (GRCm39) |
nonsense |
probably null |
|
|
R9574:Trim7
|
UTSW |
11 |
48,728,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9581:Trim7
|
UTSW |
11 |
48,738,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Trim7
|
UTSW |
11 |
48,740,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACTGGGCGGCCTAGAAAG -3'
(R):5'- CTTGGCAGTAGAGCTTAAGTTG -3'
Sequencing Primer
(F):5'- ATTCTCAGCTGGGTGCAC -3'
(R):5'- AGCTTAAGTTGCTCTCCGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation