Incidental Mutation 'IGL01472:Trim45'
ID |
88293 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim45
|
Ensembl Gene |
ENSMUSG00000033233 |
Gene Name |
tripartite motif-containing 45 |
Synonyms |
4921530N01Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01472
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
100829518-100844236 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100835381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 455
(T455A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037409]
[ENSMUST00000094048]
[ENSMUST00000106980]
[ENSMUST00000134993]
|
AlphaFold |
Q6PFY8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037409
AA Change: T455A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043389 Gene: ENSMUSG00000033233 AA Change: T455A
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
AA Change: T406A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091590 Gene: ENSMUSG00000033233 AA Change: T406A
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
AA Change: T455A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102593 Gene: ENSMUSG00000033233 AA Change: T455A
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: ENSMUST00000134993
AA Change: T455A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115669 Gene: ENSMUSG00000033233 AA Change: T455A
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163914
AA Change: T455A
|
SMART Domains |
Protein: ENSMUSP00000129861 Gene: ENSMUSG00000033233 AA Change: T455A
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 |
|
Validation Efficiency |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
G |
A |
7: 119,153,759 (GRCm39) |
|
probably null |
Het |
Adamts4 |
T |
C |
1: 171,080,419 (GRCm39) |
F324S |
probably damaging |
Het |
Alg10b |
T |
A |
15: 90,111,900 (GRCm39) |
L248Q |
possibly damaging |
Het |
Antxr2 |
T |
A |
5: 98,175,358 (GRCm39) |
T90S |
probably benign |
Het |
Arhgap21 |
C |
T |
2: 20,854,392 (GRCm39) |
E1657K |
probably damaging |
Het |
Atp13a5 |
T |
G |
16: 29,094,175 (GRCm39) |
D803A |
probably damaging |
Het |
Bzw2 |
T |
C |
12: 36,159,795 (GRCm39) |
D185G |
probably damaging |
Het |
Camta2 |
A |
G |
11: 70,574,950 (GRCm39) |
S62P |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,861,477 (GRCm39) |
Q599R |
possibly damaging |
Het |
Chsy3 |
G |
A |
18: 59,309,439 (GRCm39) |
V231I |
probably damaging |
Het |
Cnbd2 |
C |
T |
2: 156,217,268 (GRCm39) |
R457W |
probably damaging |
Het |
Col20a1 |
A |
G |
2: 180,649,625 (GRCm39) |
T1036A |
probably benign |
Het |
Colgalt2 |
T |
C |
1: 152,382,629 (GRCm39) |
Y494H |
probably damaging |
Het |
Cox15 |
G |
T |
19: 43,732,104 (GRCm39) |
Y237* |
probably null |
Het |
Cpne9 |
C |
A |
6: 113,269,983 (GRCm39) |
S281Y |
possibly damaging |
Het |
D830013O20Rik |
G |
A |
12: 73,411,090 (GRCm39) |
|
noncoding transcript |
Het |
Dnah5 |
C |
T |
15: 28,331,872 (GRCm39) |
R2153C |
probably damaging |
Het |
Fam228a |
A |
G |
12: 4,765,610 (GRCm39) |
I267T |
possibly damaging |
Het |
Fat4 |
G |
A |
3: 38,942,219 (GRCm39) |
A371T |
probably damaging |
Het |
Gm1818 |
T |
C |
12: 48,603,072 (GRCm39) |
|
noncoding transcript |
Het |
Gm5592 |
T |
C |
7: 40,935,498 (GRCm39) |
|
probably benign |
Het |
Golga4 |
C |
A |
9: 118,361,642 (GRCm39) |
L207I |
probably damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,250,226 (GRCm39) |
|
probably benign |
Het |
Hao1 |
C |
T |
2: 134,396,150 (GRCm39) |
E35K |
probably benign |
Het |
Iqch |
T |
C |
9: 63,455,216 (GRCm39) |
I194V |
probably benign |
Het |
Ism1 |
A |
T |
2: 139,599,223 (GRCm39) |
T392S |
probably damaging |
Het |
Lcmt1 |
A |
G |
7: 123,027,376 (GRCm39) |
Y313C |
probably damaging |
Het |
Loxl4 |
A |
G |
19: 42,585,988 (GRCm39) |
C718R |
probably damaging |
Het |
Lyar |
T |
G |
5: 38,382,066 (GRCm39) |
I16R |
possibly damaging |
Het |
Map3k20 |
T |
C |
2: 72,185,897 (GRCm39) |
|
probably benign |
Het |
Mtus1 |
T |
C |
8: 41,455,449 (GRCm39) |
T941A |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,179,205 (GRCm39) |
|
probably benign |
Het |
Myof |
T |
C |
19: 37,911,524 (GRCm39) |
D1482G |
probably benign |
Het |
Nr4a3 |
C |
A |
4: 48,071,133 (GRCm39) |
A534D |
probably damaging |
Het |
Oas1c |
A |
G |
5: 120,940,986 (GRCm39) |
V269A |
probably damaging |
Het |
Odf2 |
T |
A |
2: 29,783,071 (GRCm39) |
S5T |
probably damaging |
Het |
Or5d36 |
T |
A |
2: 87,901,322 (GRCm39) |
T135S |
possibly damaging |
Het |
Or5p4 |
T |
C |
7: 107,680,411 (GRCm39) |
S137P |
probably benign |
Het |
Or9s27 |
T |
A |
1: 92,516,694 (GRCm39) |
M214K |
possibly damaging |
Het |
Pbk |
A |
G |
14: 66,054,159 (GRCm39) |
T235A |
probably benign |
Het |
Phrf1 |
T |
C |
7: 140,836,403 (GRCm39) |
|
probably benign |
Het |
Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
Prom2 |
T |
A |
2: 127,374,802 (GRCm39) |
Y578F |
probably benign |
Het |
Prph |
T |
C |
15: 98,956,474 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,502,593 (GRCm39) |
V3527A |
probably benign |
Het |
Scn10a |
C |
T |
9: 119,446,829 (GRCm39) |
V1400I |
probably damaging |
Het |
Slc10a2 |
A |
G |
8: 5,141,652 (GRCm39) |
L244P |
probably damaging |
Het |
Tardbp |
A |
G |
4: 148,706,521 (GRCm39) |
V96A |
probably benign |
Het |
Tbc1d4 |
C |
A |
14: 101,727,300 (GRCm39) |
E504* |
probably null |
Het |
Tmed3 |
T |
C |
9: 89,584,928 (GRCm39) |
E109G |
probably benign |
Het |
Tnc |
C |
T |
4: 63,924,656 (GRCm39) |
R1014H |
probably benign |
Het |
Tpcn2 |
C |
T |
7: 144,821,115 (GRCm39) |
R313Q |
probably damaging |
Het |
Txlna |
A |
G |
4: 129,525,908 (GRCm39) |
I313T |
probably damaging |
Het |
Vmn1r202 |
A |
T |
13: 22,686,159 (GRCm39) |
I86K |
possibly damaging |
Het |
Vmn2r14 |
C |
A |
5: 109,364,180 (GRCm39) |
E579* |
probably null |
Het |
Wrn |
T |
A |
8: 33,819,200 (GRCm39) |
I8F |
possibly damaging |
Het |
Zc3h18 |
A |
G |
8: 123,143,396 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,323,117 (GRCm39) |
H876Q |
probably benign |
Het |
Znrf2 |
C |
T |
6: 54,840,957 (GRCm39) |
T177I |
probably damaging |
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 |
|
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 |
|
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 |
|
Posted On |
2013-11-18 |