Incidental Mutation 'R8999:Trim45'
| ID |
684851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim45
|
| Ensembl Gene |
ENSMUSG00000033233 |
| Gene Name |
tripartite motif-containing 45 |
| Synonyms |
4921530N01Rik |
| MMRRC Submission |
068830-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8999 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100829518-100844236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100838960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 621
(T621A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115669
(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: T621A
|
| SMART Domains |
Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: T621A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
T |
C |
11: 71,921,083 (GRCm39) |
E245G |
possibly damaging |
Het |
| Cd6 |
A |
T |
19: 10,776,642 (GRCm39) |
C128S |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,666,165 (GRCm39) |
D98G |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,818,137 (GRCm39) |
K525E |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,140,534 (GRCm39) |
E289G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,018,235 (GRCm39) |
T1428A |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,666,684 (GRCm39) |
L631P |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,461,271 (GRCm39) |
C187S |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,640,477 (GRCm39) |
M1072L |
probably benign |
Het |
| Fap |
T |
C |
2: 62,367,368 (GRCm39) |
H338R |
probably benign |
Het |
| Fxyd2 |
T |
C |
9: 45,314,295 (GRCm39) |
|
probably benign |
Het |
| Gabrg1 |
T |
A |
5: 70,973,378 (GRCm39) |
I59F |
probably benign |
Het |
| Glb1l3 |
A |
T |
9: 26,764,914 (GRCm39) |
|
probably null |
Het |
| Gpr27 |
T |
C |
6: 99,669,776 (GRCm39) |
I46T |
possibly damaging |
Het |
| Igkv8-26 |
C |
A |
6: 70,170,514 (GRCm39) |
A35E |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,635,013 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
A |
C |
15: 101,939,874 (GRCm39) |
E357D |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,646,512 (GRCm39) |
G470E |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,452,473 (GRCm39) |
K454N |
possibly damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,817 (GRCm39) |
V282A |
|
Het |
| Men1 |
G |
A |
19: 6,389,960 (GRCm39) |
V538I |
probably benign |
Het |
| Mfn1 |
T |
A |
3: 32,623,683 (GRCm39) |
M621K |
possibly damaging |
Het |
| Mpdz |
C |
A |
4: 81,202,882 (GRCm39) |
G1838* |
probably null |
Het |
| Msantd5f9 |
G |
C |
4: 73,837,420 (GRCm39) |
N99K |
probably damaging |
Het |
| Mypn |
A |
T |
10: 62,998,050 (GRCm39) |
L420* |
probably null |
Het |
| Nkx6-1 |
T |
C |
5: 101,812,082 (GRCm39) |
M7V |
unknown |
Het |
| Notum |
G |
A |
11: 120,545,207 (GRCm39) |
H451Y |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,211,574 (GRCm39) |
V767L |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,728,999 (GRCm39) |
I292N |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,988 (GRCm39) |
K297E |
probably damaging |
Het |
| Or6c3 |
A |
G |
10: 129,309,386 (GRCm39) |
N275S |
probably benign |
Het |
| Pabpc4l |
A |
C |
3: 46,400,783 (GRCm39) |
I287S |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,073,428 (GRCm39) |
T353M |
possibly damaging |
Het |
| Plekha1 |
T |
C |
7: 130,510,199 (GRCm39) |
I315T |
unknown |
Het |
| Ppp2r2b |
C |
T |
18: 42,870,993 (GRCm39) |
A106T |
probably benign |
Het |
| Prkch |
T |
C |
12: 73,742,973 (GRCm39) |
V209A |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,028,930 (GRCm39) |
C284R |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,671 (GRCm39) |
V804A |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,684,360 (GRCm39) |
R1130* |
probably null |
Het |
| Serpina6 |
C |
G |
12: 103,617,988 (GRCm39) |
R275P |
probably damaging |
Het |
| Six3 |
T |
A |
17: 85,931,164 (GRCm39) |
H273Q |
probably benign |
Het |
| Stk35 |
C |
A |
2: 129,652,509 (GRCm39) |
P337T |
probably damaging |
Het |
| Supt5 |
A |
G |
7: 28,037,848 (GRCm39) |
S2P |
unknown |
Het |
| Tnik |
A |
G |
3: 28,719,920 (GRCm39) |
Y1264C |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,763,094 (GRCm39) |
L327P |
probably damaging |
Het |
| Vmn2r69 |
A |
C |
7: 85,060,307 (GRCm39) |
S426A |
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 |
|
IGL02837:Trim45
|
UTSW |
3 |
100,838,943 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
|
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'- CCCTTTGTATTATGCAGGTGGATAC -3'
(R):5'- TTTCCGTGGAGTAGATCAGC -3'
Sequencing Primer
(F):5'- TGGCCACGGACACAAAG -3'
(R):5'- TAGATCAGCAGCCTGCCTTGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation