Incidental Mutation 'R3797:Trim7'
ID |
272804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim7
|
Ensembl Gene |
ENSMUSG00000040350 |
Gene Name |
tripartite motif-containing 7 |
Synonyms |
|
MMRRC Submission |
040758-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R3797 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48716965-48742019 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 48736497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046903]
[ENSMUST00000109213]
[ENSMUST00000129674]
[ENSMUST00000149049]
[ENSMUST00000155478]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000046903
|
SMART Domains |
Protein: ENSMUSP00000039011 Gene: ENSMUSG00000040350
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000131270
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155478
|
SMART Domains |
Protein: ENSMUSP00000118669 Gene: ENSMUSG00000040350
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: ENSMUST00000156882
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (39/39) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Capn5 |
C |
T |
7: 97,775,036 (GRCm39) |
G535R |
probably null |
Het |
Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
Cdc73 |
A |
T |
1: 143,553,461 (GRCm39) |
D215E |
probably benign |
Het |
Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
Clns1a |
G |
A |
7: 97,346,042 (GRCm39) |
G36R |
probably benign |
Het |
Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
Mtarc2 |
T |
C |
1: 184,573,505 (GRCm39) |
E131G |
possibly damaging |
Het |
Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
Pde4d |
T |
C |
13: 109,769,431 (GRCm39) |
S40P |
probably benign |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Xpnpep1 |
A |
T |
19: 52,994,773 (GRCm39) |
V285D |
probably benign |
Het |
Zfp934 |
T |
C |
13: 62,665,702 (GRCm39) |
K313R |
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 |
|
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'- TCCCGAGACAGAAGCAGATG -3'
(R):5'- TCAGAGACTTTGGACTCAAGTGTG -3'
Sequencing Primer
(F):5'- TAGGGGCGGAGTTCCAAGC -3'
(R):5'- ACTTTGGACTCAAGTGTGTGTAGAC -3'
|
Posted On |
2015-03-25 |