Incidental Mutation 'R9121:Trim7'
| ID |
692787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim7
|
| Ensembl Gene |
ENSMUSG00000040350 |
| Gene Name |
tripartite motif-containing 7 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R9121 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
48716965-48742019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48740674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 257
(L257Q)
|
| 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: L464Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039011
Gene: ENSMUSG00000040350
AA Change: L464Q
| 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: L257Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104836
Gene: ENSMUSG00000040350
AA Change: L257Q
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (44/44) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,820,078 (GRCm39) |
N720K |
probably benign |
Het |
| Ampd1 |
C |
T |
3: 103,005,998 (GRCm39) |
Q603* |
probably null |
Het |
| Arap2 |
G |
A |
5: 62,906,326 (GRCm39) |
T231M |
possibly damaging |
Het |
| Atp2b4 |
TCT |
TCTGCT |
1: 133,629,463 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
C |
T |
4: 122,761,516 (GRCm39) |
R122Q |
probably damaging |
Het |
| Cdh10 |
G |
A |
15: 19,011,074 (GRCm39) |
V586M |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,389,331 (GRCm39) |
V303E |
possibly damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,563,158 (GRCm39) |
C707* |
probably null |
Het |
| Crtc3 |
A |
G |
7: 80,242,323 (GRCm39) |
F497L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,683,774 (GRCm39) |
Y949C |
|
Het |
| D5Ertd579e |
A |
T |
5: 36,772,778 (GRCm39) |
I539N |
probably damaging |
Het |
| Dctpp1 |
T |
C |
7: 126,856,456 (GRCm39) |
R89G |
probably damaging |
Het |
| Dnah7c |
T |
A |
1: 46,704,650 (GRCm39) |
V2221E |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,816,896 (GRCm39) |
L3628I |
probably benign |
Het |
| E030025P04Rik |
A |
G |
11: 109,034,738 (GRCm39) |
F50S |
unknown |
Het |
| Edrf1 |
CGG |
CG |
7: 133,258,770 (GRCm39) |
|
probably null |
Het |
| Epb41l1 |
T |
G |
2: 156,364,487 (GRCm39) |
S999A |
probably benign |
Het |
| Fbxw10 |
T |
A |
11: 62,738,153 (GRCm39) |
C16S |
possibly damaging |
Het |
| Fbxw19 |
G |
A |
9: 109,324,890 (GRCm39) |
P9L |
probably damaging |
Het |
| Gpi1 |
A |
T |
7: 33,907,114 (GRCm39) |
Y327N |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,525,195 (GRCm39) |
L637P |
probably damaging |
Het |
| Idh3a |
T |
C |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
| Ighv1-56 |
T |
A |
12: 115,206,634 (GRCm39) |
T47S |
probably benign |
Het |
| Iglc2 |
A |
C |
16: 19,017,294 (GRCm39) |
C103G |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,148,102 (GRCm39) |
T771A |
possibly damaging |
Het |
| Mcm2 |
C |
A |
6: 88,861,019 (GRCm39) |
R893L |
probably benign |
Het |
| Mettl15 |
A |
T |
2: 109,104,948 (GRCm39) |
V19E |
|
Het |
| Mier2 |
G |
A |
10: 79,377,594 (GRCm39) |
A453V |
|
Het |
| Mlf1 |
T |
C |
3: 67,307,054 (GRCm39) |
S255P |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,482,636 (GRCm39) |
D78G |
possibly damaging |
Het |
| Or5w14 |
T |
A |
2: 87,541,975 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,726,976 (GRCm39) |
M59K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,536,462 (GRCm39) |
K1340E |
probably benign |
Het |
| Pla2g4c |
A |
G |
7: 13,091,010 (GRCm39) |
D589G |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,235,156 (GRCm39) |
V278A |
probably damaging |
Het |
| Qrich2 |
T |
A |
11: 116,347,272 (GRCm39) |
H1184L |
unknown |
Het |
| Rnaset2a |
A |
G |
17: 8,347,549 (GRCm39) |
F250S |
possibly damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,356 (GRCm39) |
Y32C |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,254,786 (GRCm39) |
S611P |
probably benign |
Het |
| Slco1a1 |
C |
A |
6: 141,892,542 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,040,599 (GRCm39) |
D225V |
probably damaging |
Het |
| Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,312,423 (GRCm39) |
N1101K |
probably benign |
Het |
| Unc79 |
C |
T |
12: 102,968,095 (GRCm39) |
T107M |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,631,523 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,756,946 (GRCm39) |
Y1150* |
probably null |
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 |
|
|
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 |
|
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'- GCTTTGATACCAACACCCGC -3'
(R):5'- GATAAAGTACCTCGGTCTCACC -3'
Sequencing Primer
(F):5'- TCCTCTGGGCGACATCACTG -3'
(R):5'- GTCTCACCGAGATACACCGCTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation