Incidental Mutation 'IGL02837:Trim45'
| ID |
391898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim45
|
| Ensembl Gene |
ENSMUSG00000033233 |
| Gene Name |
tripartite motif-containing 45 |
| Synonyms |
4921530N01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02837 (G1)
|
| Quality Score |
69 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100829518-100844236 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 100838943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037409]
[ENSMUST00000094048]
[ENSMUST00000106980]
[ENSMUST00000134993]
|
| AlphaFold |
Q6PFY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037409
|
| SMART Domains |
Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
29 |
97 |
5.35e-5 |
SMART |
|
BBOX
|
130 |
176 |
1.03e-1 |
SMART |
|
BBOX
|
186 |
227 |
4.34e-5 |
SMART |
|
BBC
|
234 |
360 |
3.55e-9 |
SMART |
|
IG_FLMN
|
398 |
500 |
7.63e-33 |
SMART |
|
low complexity region
|
532 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094048
|
| SMART Domains |
Protein: ENSMUSP00000091590
Gene: ENSMUSG00000033233
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
81 |
127 |
1.03e-1 |
SMART |
|
BBOX
|
137 |
178 |
4.34e-5 |
SMART |
|
BBC
|
185 |
311 |
3.55e-9 |
SMART |
|
IG_FLMN
|
349 |
451 |
7.63e-33 |
SMART |
|
low complexity region
|
483 |
500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106980
|
| SMART Domains |
Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
29 |
97 |
5.35e-5 |
SMART |
|
BBOX
|
130 |
176 |
1.03e-1 |
SMART |
|
BBOX
|
186 |
227 |
4.34e-5 |
SMART |
|
BBC
|
234 |
360 |
3.55e-9 |
SMART |
|
IG_FLMN
|
398 |
500 |
7.63e-33 |
SMART |
|
low complexity region
|
532 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134993
AA Change: T615I
|
| SMART Domains |
Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: T615I
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
29 |
97 |
5.35e-5 |
SMART |
|
BBOX
|
130 |
176 |
1.03e-1 |
SMART |
|
BBOX
|
186 |
227 |
4.34e-5 |
SMART |
|
BBC
|
234 |
360 |
3.55e-9 |
SMART |
|
IG_FLMN
|
398 |
500 |
7.63e-33 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,268,473 (GRCm39) |
V786I |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,881,432 (GRCm39) |
N803S |
probably benign |
Het |
| Ago4 |
C |
G |
4: 126,391,093 (GRCm39) |
G730R |
possibly damaging |
Het |
| Amn |
T |
A |
12: 111,238,333 (GRCm39) |
M55K |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,055,102 (GRCm39) |
Y1334F |
probably damaging |
Het |
| Arl14ep |
A |
C |
2: 106,799,574 (GRCm39) |
L89R |
probably damaging |
Het |
| Bcam |
T |
G |
7: 19,498,111 (GRCm39) |
E304A |
probably damaging |
Het |
| Car10 |
A |
T |
11: 93,488,077 (GRCm39) |
Y258F |
probably damaging |
Het |
| Cerk |
T |
A |
15: 86,028,896 (GRCm39) |
K82* |
probably null |
Het |
| Chac2 |
T |
C |
11: 30,927,496 (GRCm39) |
N141S |
probably damaging |
Het |
| Clpx |
T |
G |
9: 65,231,541 (GRCm39) |
L556R |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,101,364 (GRCm39) |
I55V |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,500,139 (GRCm39) |
V650A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,269,546 (GRCm39) |
E895D |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
| Dpys |
A |
G |
15: 39,720,701 (GRCm39) |
S20P |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,470,471 (GRCm39) |
V1490I |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,109,044 (GRCm39) |
C357W |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,591,980 (GRCm39) |
D494V |
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,513 (GRCm39) |
D173E |
probably benign |
Het |
| Gm2666 |
G |
T |
1: 85,412,824 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3867 |
C |
A |
9: 36,169,096 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5436 |
A |
T |
12: 84,305,374 (GRCm39) |
|
noncoding transcript |
Het |
| Kit |
G |
A |
5: 75,799,668 (GRCm39) |
V467I |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,741,863 (GRCm39) |
V179A |
unknown |
Het |
| Lrp8 |
C |
A |
4: 107,718,478 (GRCm39) |
H693Q |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,517,605 (GRCm39) |
S75P |
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,013,806 (GRCm39) |
V1068L |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,028,008 (GRCm39) |
P304L |
possibly damaging |
Het |
| Muc19 |
T |
A |
15: 91,766,850 (GRCm39) |
|
noncoding transcript |
Het |
| Npas3 |
T |
C |
12: 53,993,980 (GRCm39) |
V175A |
possibly damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,352,342 (GRCm39) |
H8Q |
probably benign |
Het |
| Ntsr2 |
G |
A |
12: 16,703,876 (GRCm39) |
V126M |
probably damaging |
Het |
| Odf2 |
A |
T |
2: 29,816,725 (GRCm39) |
T725S |
probably damaging |
Het |
| Or52e19b |
C |
T |
7: 103,032,822 (GRCm39) |
C129Y |
probably damaging |
Het |
| Or5h17 |
C |
T |
16: 58,820,909 (GRCm39) |
P287L |
probably damaging |
Het |
| Or9s13 |
T |
C |
1: 92,548,404 (GRCm39) |
Y259H |
possibly damaging |
Het |
| Pgr |
T |
C |
9: 8,946,639 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,603,562 (GRCm39) |
C249* |
probably null |
Het |
| Plcd3 |
C |
T |
11: 102,961,929 (GRCm39) |
V726M |
possibly damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,617 (GRCm39) |
L140P |
probably damaging |
Het |
| Prpf6 |
C |
A |
2: 181,264,056 (GRCm39) |
D239E |
probably damaging |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Rimbp2 |
G |
T |
5: 128,874,809 (GRCm39) |
Q268K |
probably damaging |
Het |
| Rps19-ps13 |
A |
T |
18: 40,859,447 (GRCm39) |
|
noncoding transcript |
Het |
| Sema4c |
C |
A |
1: 36,591,965 (GRCm39) |
G266V |
probably damaging |
Het |
| Sema4g |
T |
C |
19: 44,985,150 (GRCm39) |
F156S |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Speer4f1 |
G |
T |
5: 17,685,381 (GRCm39) |
L225F |
unknown |
Het |
| Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 144,995,568 (GRCm39) |
E497G |
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,261,863 (GRCm39) |
N631S |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,949,731 (GRCm39) |
D445G |
probably benign |
Het |
|
| Other mutations in Trim45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00802:Trim45
|
APN |
3 |
100,839,042 (GRCm39) |
intron |
probably benign |
|
|
IGL01472:Trim45
|
APN |
3 |
100,835,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01996:Trim45
|
APN |
3 |
100,835,425 (GRCm39) |
nonsense |
probably null |
0.00 |
|
IGL02392:Trim45
|
APN |
3 |
100,832,621 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03229:Trim45
|
APN |
3 |
100,830,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Trim45
|
UTSW |
3 |
100,832,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Trim45
|
UTSW |
3 |
100,837,160 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0501:Trim45
|
UTSW |
3 |
100,830,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Trim45
|
UTSW |
3 |
100,834,614 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1418:Trim45
|
UTSW |
3 |
100,834,614 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1813:Trim45
|
UTSW |
3 |
100,830,283 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2148:Trim45
|
UTSW |
3 |
100,839,360 (GRCm39) |
nonsense |
probably null |
|
|
R2383:Trim45
|
UTSW |
3 |
100,832,543 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4368:Trim45
|
UTSW |
3 |
100,830,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Trim45
|
UTSW |
3 |
100,839,050 (GRCm39) |
intron |
probably benign |
|
|
R4840:Trim45
|
UTSW |
3 |
100,832,804 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5030:Trim45
|
UTSW |
3 |
100,835,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Trim45
|
UTSW |
3 |
100,837,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5298:Trim45
|
UTSW |
3 |
100,832,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Trim45
|
UTSW |
3 |
100,832,457 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5589:Trim45
|
UTSW |
3 |
100,837,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6537:Trim45
|
UTSW |
3 |
100,832,712 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6850:Trim45
|
UTSW |
3 |
100,830,541 (GRCm39) |
nonsense |
probably null |
|
|
R7009:Trim45
|
UTSW |
3 |
100,839,195 (GRCm39) |
intron |
probably benign |
|
|
R7122:Trim45
|
UTSW |
3 |
100,839,353 (GRCm39) |
missense |
unknown |
|
|
R7583:Trim45
|
UTSW |
3 |
100,832,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:Trim45
|
UTSW |
3 |
100,834,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8368:Trim45
|
UTSW |
3 |
100,830,672 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8924:Trim45
|
UTSW |
3 |
100,835,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Trim45
|
UTSW |
3 |
100,838,960 (GRCm39) |
missense |
unknown |
|
|
R8999:Trim45
|
UTSW |
3 |
100,838,960 (GRCm39) |
missense |
unknown |
|
|
R9069:Trim45
|
UTSW |
3 |
100,832,440 (GRCm39) |
nonsense |
probably null |
|
|
R9368:Trim45
|
UTSW |
3 |
100,832,319 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9594:Trim45
|
UTSW |
3 |
100,830,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9634:Trim45
|
UTSW |
3 |
100,839,306 (GRCm39) |
missense |
unknown |
|
|
R9651:Trim45
|
UTSW |
3 |
100,832,705 (GRCm39) |
nonsense |
probably null |
|
|
X0066:Trim45
|
UTSW |
3 |
100,839,083 (GRCm39) |
intron |
probably benign |
|
|
Z1088:Trim45
|
UTSW |
3 |
100,832,956 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTTTGTATTATGCAGGTGG -3'
(R):5'- TTCCGTGGAGTAGATCAGCAG -3'
Sequencing Primer
(F):5'- GGATACCTTGGCTGTGGC -3'
(R):5'- TAGATCAGCAGCCTGCCTTGAG -3'
|
| Posted On |
2016-06-08 |
Incidental Mutation