Incidental Mutation 'R9350:Trim24'
ID |
708008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim24
|
Ensembl Gene |
ENSMUSG00000029833 |
Gene Name |
tripartite motif-containing 24 |
Synonyms |
D430004I05Rik, A130082H20Rik, TIF1alpha, Tif1a |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9350 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
37847746-37943231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37892208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 247
(Q247R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031859]
[ENSMUST00000120238]
[ENSMUST00000120428]
|
AlphaFold |
Q64127 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031859
AA Change: Q247R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031859 Gene: ENSMUSG00000029833 AA Change: Q247R
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
RING
|
52 |
130 |
2.5e-10 |
SMART |
BBOX
|
158 |
205 |
2e-13 |
SMART |
BBOX
|
218 |
259 |
7e-14 |
SMART |
BBC
|
266 |
392 |
3e-44 |
SMART |
low complexity region
|
474 |
491 |
N/A |
INTRINSIC |
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
low complexity region
|
573 |
598 |
N/A |
INTRINSIC |
low complexity region
|
686 |
709 |
N/A |
INTRINSIC |
low complexity region
|
759 |
774 |
N/A |
INTRINSIC |
PHD
|
829 |
872 |
2.1e-13 |
SMART |
BROMO
|
902 |
1007 |
2.4e-40 |
SMART |
low complexity region
|
1025 |
1033 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120238
AA Change: Q177R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114001 Gene: ENSMUSG00000029833 AA Change: Q177R
Domain | Start | End | E-Value | Type |
BBOX
|
88 |
135 |
2e-13 |
SMART |
BBOX
|
148 |
189 |
6.8e-14 |
SMART |
BBC
|
196 |
322 |
3e-44 |
SMART |
low complexity region
|
404 |
421 |
N/A |
INTRINSIC |
low complexity region
|
431 |
444 |
N/A |
INTRINSIC |
low complexity region
|
503 |
528 |
N/A |
INTRINSIC |
low complexity region
|
616 |
639 |
N/A |
INTRINSIC |
low complexity region
|
689 |
704 |
N/A |
INTRINSIC |
PHD
|
759 |
802 |
2e-13 |
SMART |
BROMO
|
832 |
937 |
2.4e-40 |
SMART |
low complexity region
|
955 |
963 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120428
AA Change: Q247R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113063 Gene: ENSMUSG00000029833 AA Change: Q247R
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
RING
|
52 |
130 |
5.22e-8 |
SMART |
BBOX
|
158 |
205 |
6.27e-11 |
SMART |
BBOX
|
218 |
259 |
2.22e-11 |
SMART |
BBC
|
266 |
392 |
5.86e-42 |
SMART |
low complexity region
|
539 |
564 |
N/A |
INTRINSIC |
low complexity region
|
652 |
675 |
N/A |
INTRINSIC |
low complexity region
|
725 |
740 |
N/A |
INTRINSIC |
PHD
|
795 |
838 |
3.15e-11 |
SMART |
BROMO
|
868 |
973 |
3.95e-38 |
SMART |
low complexity region
|
991 |
999 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is part of the tripartite-motif containing family (TRIM), which are typified by the RING, B-box type 1, B-box type 2, and coiled-coil region domains. This protein, which also contains a PHD/TTC finger and bromodomain important for regulating nuclear receptors and binding chromatin, has important roles in differentiation, development, and tissue homeostasis. This protein has been reported to regulate the activity of the tumor suppressor p53 and of the retinoic acid receptor. A translocation event between this gene and Braf transforming gene, which results in the fusion protein T18, has been reported in hepatocellular carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased hepatocyte ploidy and uncontrolled hepatocellular proliferation; most adult mice develop malignant hepatocellular carcinomas. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
A |
8: 44,022,669 (GRCm39) |
M274L |
probably benign |
Het |
Adarb1 |
T |
A |
10: 77,158,267 (GRCm39) |
N60I |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,654,274 (GRCm39) |
N2919I |
probably damaging |
Het |
Adora3 |
C |
T |
3: 105,814,613 (GRCm39) |
T121M |
possibly damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,965,260 (GRCm39) |
N423Y |
probably damaging |
Het |
Arhgap19 |
A |
T |
19: 41,761,566 (GRCm39) |
F466Y |
probably benign |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Atxn7l1 |
C |
T |
12: 33,417,315 (GRCm39) |
T492I |
probably benign |
Het |
B3galnt2 |
T |
C |
13: 14,170,393 (GRCm39) |
S248P |
probably damaging |
Het |
Casp2 |
T |
C |
6: 42,246,332 (GRCm39) |
V230A |
probably benign |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
Ctnnbl1 |
G |
A |
2: 157,651,445 (GRCm39) |
G240E |
possibly damaging |
Het |
Dennd2c |
T |
C |
3: 103,039,308 (GRCm39) |
L152P |
possibly damaging |
Het |
Dhx16 |
T |
A |
17: 36,200,203 (GRCm39) |
F874Y |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,562,369 (GRCm39) |
Y2643F |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,384,073 (GRCm39) |
V1048L |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,436,307 (GRCm39) |
I4012V |
probably benign |
Het |
Duox2 |
G |
A |
2: 122,115,729 (GRCm39) |
R1002* |
probably null |
Het |
Ears2 |
T |
A |
7: 121,643,786 (GRCm39) |
K391* |
probably null |
Het |
Eif4e |
T |
C |
3: 138,259,470 (GRCm39) |
V176A |
probably benign |
Het |
Erbb4 |
T |
A |
1: 68,329,638 (GRCm39) |
I626L |
probably benign |
Het |
Fam171a1 |
C |
T |
2: 3,226,037 (GRCm39) |
T390I |
probably benign |
Het |
Fam187b |
A |
G |
7: 30,677,037 (GRCm39) |
E182G |
possibly damaging |
Het |
Fam204a |
A |
G |
19: 60,209,685 (GRCm39) |
V15A |
probably benign |
Het |
Fscn3 |
C |
T |
6: 28,430,432 (GRCm39) |
R201* |
probably null |
Het |
Fzd6 |
A |
G |
15: 38,895,043 (GRCm39) |
D403G |
probably damaging |
Het |
Gars1 |
G |
A |
6: 55,029,249 (GRCm39) |
A210T |
probably null |
Het |
Gmcl1 |
A |
T |
6: 86,677,569 (GRCm39) |
I428N |
probably damaging |
Het |
Gmip |
T |
A |
8: 70,263,832 (GRCm39) |
I92N |
probably damaging |
Het |
Il17rc |
G |
A |
6: 113,456,048 (GRCm39) |
V298I |
probably damaging |
Het |
Kifap3 |
A |
G |
1: 163,610,630 (GRCm39) |
I37V |
probably benign |
Het |
Marf1 |
T |
C |
16: 13,963,789 (GRCm39) |
K505E |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,692,396 (GRCm39) |
|
probably null |
Het |
Mmp15 |
G |
A |
8: 96,093,002 (GRCm39) |
R127H |
probably damaging |
Het |
Nrdc |
A |
G |
4: 108,889,658 (GRCm39) |
T402A |
possibly damaging |
Het |
Or10d1c |
A |
T |
9: 38,894,081 (GRCm39) |
N86K |
probably benign |
Het |
Or4k6 |
T |
A |
14: 50,475,407 (GRCm39) |
I312L |
probably benign |
Het |
Papln |
A |
T |
12: 83,833,638 (GRCm39) |
I1185F |
probably damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,814,705 (GRCm39) |
N399D |
probably benign |
Het |
Pcdhgb6 |
T |
A |
18: 37,876,872 (GRCm39) |
S527T |
probably benign |
Het |
Phkb |
T |
A |
8: 86,743,493 (GRCm39) |
Y530* |
probably null |
Het |
Pira2 |
A |
G |
7: 3,844,030 (GRCm39) |
S581P |
probably benign |
Het |
Pou4f3 |
A |
T |
18: 42,528,329 (GRCm39) |
T91S |
probably benign |
Het |
Prpf38a |
A |
G |
4: 108,424,112 (GRCm39) |
S296P |
unknown |
Het |
Rnf213 |
T |
C |
11: 119,332,975 (GRCm39) |
V2729A |
|
Het |
Rtl1 |
G |
A |
12: 109,557,226 (GRCm39) |
Q1538* |
probably null |
Het |
Sars2 |
T |
C |
7: 28,447,273 (GRCm39) |
S224P |
probably damaging |
Het |
Senp8 |
A |
G |
9: 59,645,105 (GRCm39) |
V17A |
probably benign |
Het |
Serpinb13 |
T |
A |
1: 106,923,562 (GRCm39) |
L89* |
probably null |
Het |
Sh3bp2 |
T |
A |
5: 34,718,453 (GRCm39) |
|
probably null |
Het |
Shank2 |
A |
G |
7: 143,960,945 (GRCm39) |
T254A |
probably benign |
Het |
Smdt1 |
A |
T |
15: 82,231,504 (GRCm39) |
E12D |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Taar2 |
A |
G |
10: 23,817,345 (GRCm39) |
N295S |
probably damaging |
Het |
Trpc4 |
T |
A |
3: 54,209,610 (GRCm39) |
N658K |
probably damaging |
Het |
Ube2e1 |
T |
C |
14: 18,284,348 (GRCm38) |
D137G |
probably damaging |
Het |
Ubn1 |
T |
A |
16: 4,899,422 (GRCm39) |
H1055Q |
probably benign |
Het |
Vmn1r235 |
A |
G |
17: 21,482,190 (GRCm39) |
T172A |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,882,333 (GRCm39) |
F1087L |
|
Het |
Xirp2 |
T |
C |
2: 67,349,653 (GRCm39) |
S3283P |
probably damaging |
Het |
Zeb2 |
C |
A |
2: 44,887,158 (GRCm39) |
S633I |
possibly damaging |
Het |
|
Other mutations in Trim24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00225:Trim24
|
APN |
6 |
37,880,583 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL01307:Trim24
|
APN |
6 |
37,942,570 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01790:Trim24
|
APN |
6 |
37,922,548 (GRCm39) |
missense |
probably benign |
|
IGL02525:Trim24
|
APN |
6 |
37,922,653 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02557:Trim24
|
APN |
6 |
37,942,434 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02671:Trim24
|
APN |
6 |
37,937,719 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02795:Trim24
|
APN |
6 |
37,896,324 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02877:Trim24
|
APN |
6 |
37,942,581 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02889:Trim24
|
APN |
6 |
37,934,696 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02930:Trim24
|
APN |
6 |
37,928,380 (GRCm39) |
splice site |
probably benign |
|
IGL03076:Trim24
|
APN |
6 |
37,942,567 (GRCm39) |
missense |
probably damaging |
0.98 |
accomodating
|
UTSW |
6 |
37,896,332 (GRCm39) |
missense |
probably damaging |
1.00 |
apprehensive
|
UTSW |
6 |
37,934,435 (GRCm39) |
splice site |
probably benign |
|
Flexible
|
UTSW |
6 |
37,880,588 (GRCm39) |
critical splice donor site |
probably benign |
|
Lithe
|
UTSW |
6 |
37,935,504 (GRCm39) |
missense |
probably damaging |
1.00 |
Nervous
|
UTSW |
6 |
37,934,664 (GRCm39) |
missense |
probably damaging |
1.00 |
perturbed
|
UTSW |
6 |
37,896,427 (GRCm39) |
critical splice donor site |
probably null |
|
pliant
|
UTSW |
6 |
37,896,426 (GRCm39) |
critical splice donor site |
probably null |
|
qualmish
|
UTSW |
6 |
37,880,587 (GRCm39) |
critical splice donor site |
probably null |
|
Queasy
|
UTSW |
6 |
37,885,240 (GRCm39) |
missense |
probably damaging |
0.99 |
squeamish
|
UTSW |
6 |
37,892,137 (GRCm39) |
nonsense |
probably null |
|
uneasy
|
UTSW |
6 |
37,933,412 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4651001:Trim24
|
UTSW |
6 |
37,877,667 (GRCm39) |
critical splice donor site |
probably null |
|
R0037:Trim24
|
UTSW |
6 |
37,934,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R0037:Trim24
|
UTSW |
6 |
37,934,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R0183:Trim24
|
UTSW |
6 |
37,920,415 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0471:Trim24
|
UTSW |
6 |
37,892,130 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0485:Trim24
|
UTSW |
6 |
37,934,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R0606:Trim24
|
UTSW |
6 |
37,848,169 (GRCm39) |
missense |
probably benign |
|
R0609:Trim24
|
UTSW |
6 |
37,934,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R0637:Trim24
|
UTSW |
6 |
37,935,494 (GRCm39) |
splice site |
probably null |
|
R0734:Trim24
|
UTSW |
6 |
37,896,400 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0855:Trim24
|
UTSW |
6 |
37,892,137 (GRCm39) |
nonsense |
probably null |
|
R1131:Trim24
|
UTSW |
6 |
37,934,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R1141:Trim24
|
UTSW |
6 |
37,892,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1159:Trim24
|
UTSW |
6 |
37,933,412 (GRCm39) |
critical splice donor site |
probably null |
|
R1460:Trim24
|
UTSW |
6 |
37,941,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R1672:Trim24
|
UTSW |
6 |
37,892,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Trim24
|
UTSW |
6 |
37,928,447 (GRCm39) |
missense |
probably damaging |
0.99 |
R1888:Trim24
|
UTSW |
6 |
37,934,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R1888:Trim24
|
UTSW |
6 |
37,934,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R1894:Trim24
|
UTSW |
6 |
37,934,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R1913:Trim24
|
UTSW |
6 |
37,934,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R2254:Trim24
|
UTSW |
6 |
37,935,612 (GRCm39) |
missense |
probably benign |
|
R2511:Trim24
|
UTSW |
6 |
37,880,587 (GRCm39) |
critical splice donor site |
probably null |
|
R2849:Trim24
|
UTSW |
6 |
37,933,388 (GRCm39) |
missense |
probably damaging |
0.99 |
R3878:Trim24
|
UTSW |
6 |
37,941,708 (GRCm39) |
missense |
probably benign |
0.14 |
R4084:Trim24
|
UTSW |
6 |
37,892,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4235:Trim24
|
UTSW |
6 |
37,941,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R4292:Trim24
|
UTSW |
6 |
37,877,627 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4633:Trim24
|
UTSW |
6 |
37,933,371 (GRCm39) |
missense |
probably damaging |
0.98 |
R4651:Trim24
|
UTSW |
6 |
37,934,774 (GRCm39) |
critical splice donor site |
probably null |
|
R4652:Trim24
|
UTSW |
6 |
37,934,774 (GRCm39) |
critical splice donor site |
probably null |
|
R4686:Trim24
|
UTSW |
6 |
37,885,240 (GRCm39) |
missense |
probably damaging |
0.99 |
R5000:Trim24
|
UTSW |
6 |
37,935,547 (GRCm39) |
missense |
probably benign |
0.01 |
R5213:Trim24
|
UTSW |
6 |
37,934,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R5258:Trim24
|
UTSW |
6 |
37,896,335 (GRCm39) |
missense |
probably benign |
0.37 |
R5292:Trim24
|
UTSW |
6 |
37,880,539 (GRCm39) |
missense |
probably benign |
0.23 |
R5395:Trim24
|
UTSW |
6 |
37,934,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R5547:Trim24
|
UTSW |
6 |
37,942,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R5666:Trim24
|
UTSW |
6 |
37,942,536 (GRCm39) |
missense |
probably benign |
0.19 |
R5670:Trim24
|
UTSW |
6 |
37,942,536 (GRCm39) |
missense |
probably benign |
0.19 |
R5849:Trim24
|
UTSW |
6 |
37,934,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R5927:Trim24
|
UTSW |
6 |
37,935,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R5932:Trim24
|
UTSW |
6 |
37,934,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R6286:Trim24
|
UTSW |
6 |
37,896,426 (GRCm39) |
critical splice donor site |
probably null |
|
R6374:Trim24
|
UTSW |
6 |
37,930,484 (GRCm39) |
missense |
probably benign |
0.12 |
R6449:Trim24
|
UTSW |
6 |
37,880,587 (GRCm39) |
critical splice donor site |
probably null |
|
R6723:Trim24
|
UTSW |
6 |
37,928,403 (GRCm39) |
missense |
probably benign |
0.00 |
R6731:Trim24
|
UTSW |
6 |
37,920,420 (GRCm39) |
missense |
probably damaging |
0.99 |
R6975:Trim24
|
UTSW |
6 |
37,896,427 (GRCm39) |
critical splice donor site |
probably null |
|
R7000:Trim24
|
UTSW |
6 |
37,935,613 (GRCm39) |
missense |
probably benign |
0.24 |
R7067:Trim24
|
UTSW |
6 |
37,934,775 (GRCm39) |
splice site |
probably null |
|
R7126:Trim24
|
UTSW |
6 |
37,896,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R7162:Trim24
|
UTSW |
6 |
37,942,456 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7486:Trim24
|
UTSW |
6 |
37,934,774 (GRCm39) |
critical splice donor site |
probably null |
|
R7779:Trim24
|
UTSW |
6 |
37,896,333 (GRCm39) |
missense |
probably damaging |
0.99 |
R7779:Trim24
|
UTSW |
6 |
37,896,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Trim24
|
UTSW |
6 |
37,934,661 (GRCm39) |
missense |
probably damaging |
0.99 |
R8096:Trim24
|
UTSW |
6 |
37,935,592 (GRCm39) |
missense |
probably benign |
0.03 |
R8184:Trim24
|
UTSW |
6 |
37,848,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R8323:Trim24
|
UTSW |
6 |
37,892,233 (GRCm39) |
critical splice donor site |
probably null |
|
R8476:Trim24
|
UTSW |
6 |
37,922,578 (GRCm39) |
nonsense |
probably null |
|
R8705:Trim24
|
UTSW |
6 |
37,880,588 (GRCm39) |
critical splice donor site |
probably benign |
|
R8770:Trim24
|
UTSW |
6 |
37,934,435 (GRCm39) |
splice site |
probably benign |
|
R9021:Trim24
|
UTSW |
6 |
37,933,949 (GRCm39) |
missense |
probably damaging |
0.99 |
R9166:Trim24
|
UTSW |
6 |
37,934,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R9212:Trim24
|
UTSW |
6 |
37,896,335 (GRCm39) |
missense |
probably benign |
0.37 |
R9678:Trim24
|
UTSW |
6 |
37,942,449 (GRCm39) |
missense |
probably damaging |
1.00 |
RF007:Trim24
|
UTSW |
6 |
37,930,471 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGAGTAGAAATGGACCTCTAGTG -3'
(R):5'- TTCAATGTACTGCCCAGACCC -3'
Sequencing Primer
(F):5'- GACCAGTGTTTTGTCCCT -3'
(R):5'- AGCTGAAGCAGTAGACGT -3'
|
Posted On |
2022-04-18 |