Incidental Mutation 'R0947:Trim5'
ID |
81664 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim5
|
Ensembl Gene |
ENSMUSG00000060441 |
Gene Name |
tripartite motif-containing 5 |
Synonyms |
|
MMRRC Submission |
039086-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R0947 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
103912593-103937301 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103914958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 370
(D370E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051795]
[ENSMUST00000060315]
[ENSMUST00000098179]
[ENSMUST00000106848]
[ENSMUST00000106849]
|
AlphaFold |
E9PV98 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051795
AA Change: D370E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050084 Gene: ENSMUSG00000060441 AA Change: D370E
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: D370E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095781 Gene: ENSMUSG00000060441 AA Change: D370E
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.2%
- 10x: 95.4%
- 20x: 89.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh7a1 |
A |
T |
18: 56,693,910 (GRCm39) |
|
probably null |
Het |
Atm |
A |
G |
9: 53,415,392 (GRCm39) |
V833A |
probably benign |
Het |
Atp6v1b1 |
A |
T |
6: 83,730,814 (GRCm39) |
I180F |
probably damaging |
Het |
Cwf19l2 |
T |
C |
9: 3,421,286 (GRCm39) |
S188P |
probably benign |
Het |
Gdpd1 |
T |
G |
11: 86,928,707 (GRCm39) |
E240D |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Htt |
T |
C |
5: 35,056,268 (GRCm39) |
S2681P |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,774,865 (GRCm39) |
D40G |
probably benign |
Het |
Krt18 |
A |
G |
15: 101,939,163 (GRCm39) |
Y249C |
possibly damaging |
Het |
Lrp2 |
G |
T |
2: 69,318,182 (GRCm39) |
P2090T |
probably damaging |
Het |
Lrrc32 |
A |
G |
7: 98,148,090 (GRCm39) |
D290G |
probably benign |
Het |
Man1a |
A |
T |
10: 53,809,619 (GRCm39) |
Y486* |
probably null |
Het |
Mcm9 |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
10: 53,413,597 (GRCm39) |
|
probably benign |
Het |
Nin |
A |
T |
12: 70,107,960 (GRCm39) |
C211S |
probably damaging |
Het |
Npat |
A |
C |
9: 53,481,624 (GRCm39) |
I1111L |
probably benign |
Het |
Or5p79 |
A |
G |
7: 108,221,879 (GRCm39) |
I287V |
probably benign |
Het |
Or9i1b |
T |
A |
19: 13,896,535 (GRCm39) |
H50Q |
probably benign |
Het |
Pbx1 |
A |
G |
1: 168,030,935 (GRCm39) |
S228P |
probably damaging |
Het |
Pcsk7 |
G |
T |
9: 45,822,470 (GRCm39) |
R230L |
probably damaging |
Het |
Prom2 |
G |
T |
2: 127,380,183 (GRCm39) |
Q350K |
possibly damaging |
Het |
Racgap1 |
C |
T |
15: 99,522,195 (GRCm39) |
A458T |
possibly damaging |
Het |
Rsf1 |
T |
A |
7: 97,318,985 (GRCm39) |
C912S |
probably damaging |
Het |
Setd2 |
G |
A |
9: 110,377,579 (GRCm39) |
E465K |
possibly damaging |
Het |
Sgk2 |
T |
A |
2: 162,848,758 (GRCm39) |
D269E |
probably benign |
Het |
Spsb1 |
T |
C |
4: 149,991,536 (GRCm39) |
T11A |
probably benign |
Het |
Tln2 |
A |
T |
9: 67,203,095 (GRCm39) |
S509T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,715,574 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
C |
A |
17: 47,252,038 (GRCm39) |
G1501C |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r93 |
A |
T |
17: 18,524,343 (GRCm39) |
R112S |
probably benign |
Het |
Vps26b |
T |
C |
9: 26,924,077 (GRCm39) |
Y222C |
probably damaging |
Het |
Wdr64 |
T |
A |
1: 175,603,315 (GRCm39) |
Y198N |
probably benign |
Het |
Xrn1 |
A |
T |
9: 95,880,316 (GRCm39) |
K752I |
possibly damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,398 (GRCm39) |
I372T |
probably benign |
Het |
Zfp804a |
T |
C |
2: 82,089,062 (GRCm39) |
Y964H |
possibly damaging |
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 |
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 |
|
R4114:Trim5
|
UTSW |
7 |
103,914,947 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CTTGCCTGTGAAAGGACACTCCTC -3'
(R):5'- TGCACAAAGTTCTCTCCAGTGCC -3'
Sequencing Primer
(F):5'- TGTGAAAGGACACTCCTCAAAAG -3'
(R):5'- CGTCACAGATAAGGATGTTTCCTG -3'
|
Posted On |
2013-11-08 |