Incidental Mutation 'R4114:Trim5'
ID |
314550 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim5
|
Ensembl Gene |
ENSMUSG00000060441 |
Gene Name |
tripartite motif-containing 5 |
Synonyms |
|
MMRRC Submission |
040990-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R4114 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103912593-103937301 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103914947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 374
(L374P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051795]
[ENSMUST00000060315]
[ENSMUST00000098179]
[ENSMUST00000106848]
[ENSMUST00000106849]
|
AlphaFold |
E9PV98 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051795
AA Change: L374P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000050084 Gene: ENSMUSG00000060441 AA Change: L374P
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
3.64e-7 |
SMART |
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
coiled coil region
|
172 |
232 |
N/A |
INTRINSIC |
Pfam:SPRY
|
349 |
485 |
9.2e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060315
|
SMART Domains |
Protein: ENSMUSP00000055058 Gene: ENSMUSG00000056144
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
6.79e-7 |
SMART |
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
347 |
474 |
1e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098179
AA Change: L374P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095781 Gene: ENSMUSG00000060441 AA Change: L374P
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
3.64e-7 |
SMART |
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
Pfam:SPRY
|
351 |
493 |
1.6e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106848
|
SMART Domains |
Protein: ENSMUSP00000102461 Gene: ENSMUSG00000056144
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
6.79e-7 |
SMART |
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
345 |
484 |
6.5e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106849
|
SMART Domains |
Protein: ENSMUSP00000102462 Gene: ENSMUSG00000056144
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
6.79e-7 |
SMART |
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
345 |
484 |
6.5e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217156
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
T |
G |
11: 117,693,793 (GRCm39) |
S87A |
probably damaging |
Het |
Abca16 |
T |
C |
7: 120,126,290 (GRCm39) |
F1149L |
probably benign |
Het |
Abcf1 |
A |
T |
17: 36,270,146 (GRCm39) |
D637E |
probably benign |
Het |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,256,819 (GRCm39) |
|
probably null |
Het |
Cep44 |
T |
C |
8: 56,998,457 (GRCm39) |
T74A |
probably benign |
Het |
Colq |
T |
A |
14: 31,279,824 (GRCm39) |
M1L |
probably benign |
Het |
Cym |
A |
T |
3: 107,127,065 (GRCm39) |
L30Q |
probably damaging |
Het |
Dpp6 |
T |
A |
5: 27,674,485 (GRCm39) |
|
probably null |
Het |
Gbe1 |
G |
T |
16: 70,280,715 (GRCm39) |
G372V |
possibly damaging |
Het |
Hdc |
T |
A |
2: 126,443,738 (GRCm39) |
M314L |
probably benign |
Het |
Ino80b |
A |
G |
6: 83,101,121 (GRCm39) |
S149P |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
Nlrp4a |
T |
G |
7: 26,149,365 (GRCm39) |
F324C |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,593 (GRCm39) |
|
probably null |
Het |
Or6c6c |
T |
C |
10: 129,541,668 (GRCm39) |
L307S |
probably benign |
Het |
Or8u9 |
A |
T |
2: 86,001,759 (GRCm39) |
V134D |
possibly damaging |
Het |
Pcdhb3 |
A |
G |
18: 37,435,093 (GRCm39) |
N353S |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
Pramel29 |
A |
T |
4: 143,936,173 (GRCm39) |
L29H |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,707,568 (GRCm39) |
R2823H |
probably damaging |
Het |
Scart2 |
T |
C |
7: 139,877,823 (GRCm39) |
V935A |
probably damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Slc7a1 |
T |
C |
5: 148,278,867 (GRCm39) |
T302A |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
Tspan18 |
C |
A |
2: 93,142,291 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
T |
A |
7: 9,213,092 (GRCm39) |
|
probably null |
Het |
Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
Zfp35 |
A |
C |
18: 24,135,766 (GRCm39) |
I37L |
probably benign |
Het |
|
Other mutations in Trim5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01702:Trim5
|
APN |
7 |
103,928,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02165:Trim5
|
APN |
7 |
103,928,566 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02576:Trim5
|
APN |
7 |
103,927,624 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02660:Trim5
|
APN |
7 |
103,915,425 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02732:Trim5
|
APN |
7 |
103,927,672 (GRCm39) |
missense |
probably benign |
0.02 |
R0278:Trim5
|
UTSW |
7 |
103,928,882 (GRCm39) |
missense |
probably benign |
0.00 |
R0373:Trim5
|
UTSW |
7 |
103,914,891 (GRCm39) |
missense |
probably benign |
0.00 |
R0508:Trim5
|
UTSW |
7 |
103,914,811 (GRCm39) |
missense |
probably null |
0.98 |
R0840:Trim5
|
UTSW |
7 |
103,914,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R0947:Trim5
|
UTSW |
7 |
103,914,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Trim5
|
UTSW |
7 |
103,928,728 (GRCm39) |
missense |
probably benign |
|
R1432:Trim5
|
UTSW |
7 |
103,928,726 (GRCm39) |
missense |
probably benign |
0.04 |
R1770:Trim5
|
UTSW |
7 |
103,925,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R1782:Trim5
|
UTSW |
7 |
103,915,023 (GRCm39) |
splice site |
probably null |
|
R1988:Trim5
|
UTSW |
7 |
103,914,828 (GRCm39) |
missense |
probably damaging |
0.99 |
R2140:Trim5
|
UTSW |
7 |
103,925,998 (GRCm39) |
nonsense |
probably null |
|
R3110:Trim5
|
UTSW |
7 |
103,928,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R3112:Trim5
|
UTSW |
7 |
103,928,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R3893:Trim5
|
UTSW |
7 |
103,926,042 (GRCm39) |
missense |
probably damaging |
0.98 |
R3948:Trim5
|
UTSW |
7 |
103,915,727 (GRCm39) |
nonsense |
probably null |
|
R4249:Trim5
|
UTSW |
7 |
103,926,022 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4352:Trim5
|
UTSW |
7 |
103,926,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4595:Trim5
|
UTSW |
7 |
103,914,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Trim5
|
UTSW |
7 |
103,914,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Trim5
|
UTSW |
7 |
103,926,042 (GRCm39) |
missense |
probably damaging |
0.98 |
R5861:Trim5
|
UTSW |
7 |
103,928,728 (GRCm39) |
missense |
probably benign |
|
R5861:Trim5
|
UTSW |
7 |
103,928,726 (GRCm39) |
missense |
probably benign |
0.04 |
R7027:Trim5
|
UTSW |
7 |
103,914,875 (GRCm39) |
missense |
probably benign |
0.00 |
R7078:Trim5
|
UTSW |
7 |
103,927,681 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7150:Trim5
|
UTSW |
7 |
103,926,017 (GRCm39) |
missense |
probably damaging |
0.96 |
R7657:Trim5
|
UTSW |
7 |
103,925,884 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7660:Trim5
|
UTSW |
7 |
103,928,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R7737:Trim5
|
UTSW |
7 |
103,928,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R7821:Trim5
|
UTSW |
7 |
103,927,633 (GRCm39) |
missense |
probably benign |
0.32 |
R7861:Trim5
|
UTSW |
7 |
103,915,675 (GRCm39) |
critical splice donor site |
probably null |
|
R8167:Trim5
|
UTSW |
7 |
103,927,630 (GRCm39) |
missense |
probably damaging |
0.99 |
R8220:Trim5
|
UTSW |
7 |
103,926,033 (GRCm39) |
missense |
probably damaging |
0.96 |
R8296:Trim5
|
UTSW |
7 |
103,914,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R8555:Trim5
|
UTSW |
7 |
103,927,330 (GRCm39) |
splice site |
probably null |
|
Z1088:Trim5
|
UTSW |
7 |
103,915,432 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGGCTTGCCTGTGAAAG -3'
(R):5'- TTTGTGCAGTTCAGGTGACCC -3'
Sequencing Primer
(F):5'- GGACACTCCTCAAAAGCATTATAC -3'
(R):5'- GGTGACCCTGGTTCAAAATAAC -3'
|
Posted On |
2015-05-14 |