Incidental Mutation 'R1081:Trim7'
ID |
152711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim7
|
Ensembl Gene |
ENSMUSG00000040350 |
Gene Name |
tripartite motif-containing 7 |
Synonyms |
|
MMRRC Submission |
039167-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R1081 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
48716965-48742019 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 48740532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 210
(V210L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046903]
[ENSMUST00000109213]
[ENSMUST00000129674]
[ENSMUST00000149049]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046903
AA Change: V417L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039011 Gene: ENSMUSG00000040350 AA Change: V417L
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 damaging
Transcript: ENSMUST00000109213
AA Change: V210L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104836 Gene: ENSMUSG00000040350 AA Change: V210L
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 |
noncoding transcript
Transcript: ENSMUST00000131270
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156882
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
Atxn2l |
T |
C |
7: 126,093,384 (GRCm39) |
Y785C |
probably damaging |
Het |
Atxn3 |
T |
G |
12: 101,900,608 (GRCm39) |
D225A |
probably damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,497,861 (GRCm39) |
L488P |
probably benign |
Het |
Mndal |
T |
A |
1: 173,687,788 (GRCm39) |
E482V |
probably benign |
Het |
Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
Ntsr1 |
G |
A |
2: 180,180,549 (GRCm39) |
S285N |
probably benign |
Het |
Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
P2rx4 |
A |
G |
5: 122,865,296 (GRCm39) |
E307G |
probably damaging |
Het |
Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
Tcf25 |
T |
C |
8: 124,108,212 (GRCm39) |
V89A |
probably benign |
Het |
Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
Zfp28 |
A |
G |
7: 6,392,779 (GRCm39) |
I152V |
possibly damaging |
Het |
Zfp628 |
A |
G |
7: 4,923,182 (GRCm39) |
H468R |
probably damaging |
Het |
Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
probably damaging |
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 |
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 |
|
R3901:Trim7
|
UTSW |
11 |
48,728,435 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- CCTGATTGTAGAGGCAGCAGTGTG -3'
(R):5'- CTGACAGCTCTTCAAGGCCAGATTC -3'
Sequencing Primer
(F):5'- CCTCAGTGGAACTCACTTTGG -3'
(R):5'- AACACTCGCTCCTGGAAGTTG -3'
|
Posted On |
2014-01-29 |