Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02889:Trim24'

363123

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim24

Ensembl Gene

ENSMUSG00000029833

Gene Name

tripartite motif-containing 24

Synonyms

D430004I05Rik, A130082H20Rik, TIF1alpha, Tif1a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02889

Quality Score

Status

Chromosome

Chromosomal Location

37847746-37943231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37934696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 768 (E768K)

Ref Sequence

ENSEMBL: ENSMUSP00000114001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031859] [ENSMUST00000120238] [ENSMUST00000120428]

AlphaFold

Q64127

Predicted Effect

probably benign
Transcript: ENSMUST00000031859
AA Change: E838K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031859
Gene: ENSMUSG00000029833
AA Change: E838K

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 benign
Transcript: ENSMUST00000120238
AA Change: E768K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114001
Gene: ENSMUSG00000029833
AA Change: E768K

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 benign
Transcript: ENSMUST00000120428
AA Change: E804K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113063
Gene: ENSMUSG00000029833
AA Change: E804K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135387

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	C	T	10: 77,149,375 (GRCm39)	V371I	probably benign	Het
Amdhd2	A	G	17: 24,376,761 (GRCm39)	L308P	probably damaging	Het
Antxr2	G	T	5: 98,125,509 (GRCm39)	H249Q	probably benign	Het
Arg1	A	T	10: 24,791,653 (GRCm39)	M276K	probably damaging	Het
Bloc1s6	T	C	2: 122,584,604 (GRCm39)	Y60H	probably damaging	Het
Btnl9	A	T	11: 49,069,604 (GRCm39)	V225E	probably damaging	Het
Col1a1	T	C	11: 94,842,335 (GRCm39)	Y1418H	unknown	Het
Ct45a	C	A	X: 55,592,551 (GRCm39)	K19N	probably damaging	Het
Dhx57	A	T	17: 80,554,581 (GRCm39)	I1162K	possibly damaging	Het
Dmgdh	T	C	13: 93,852,185 (GRCm39)		probably null	Het
Ear10	A	G	14: 44,160,726 (GRCm39)	F34L	probably damaging	Het
Fli1	A	G	9: 32,376,992 (GRCm39)	I92T	probably damaging	Het
Fpgs	G	A	2: 32,575,891 (GRCm39)		probably benign	Het
Glp1r	T	A	17: 31,150,118 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Ifitm3	C	T	7: 140,589,792 (GRCm39)	R87Q	probably damaging	Het
Ints3	G	T	3: 90,300,143 (GRCm39)	H925N	probably damaging	Het
Itgb4	T	A	11: 115,879,731 (GRCm39)	C628S	probably damaging	Het
Itprid1	A	T	6: 55,878,443 (GRCm39)	D402V	possibly damaging	Het
Kcnh3	A	T	15: 99,124,991 (GRCm39)	E147V	probably null	Het
Krtap19-4	T	C	16: 88,681,944 (GRCm39)	Y4C	unknown	Het
Lrp2	A	T	2: 69,382,794 (GRCm39)	S30R	possibly damaging	Het
Or11g27	A	G	14: 50,770,970 (GRCm39)	I34V	probably benign	Het
Or8g2b	A	G	9: 39,751,533 (GRCm39)	M268V	probably benign	Het
Prima1	A	G	12: 103,163,575 (GRCm39)	V132A	probably benign	Het
Psme1	A	G	14: 55,817,383 (GRCm39)		probably benign	Het
Rab11fip3	C	A	17: 26,286,653 (GRCm39)	R500L	possibly damaging	Het
Rnf40	C	A	7: 127,190,601 (GRCm39)	S255*	probably null	Het
Sebox	T	C	11: 78,395,156 (GRCm39)	V166A	probably benign	Het
Spata24	C	A	18: 35,789,805 (GRCm39)	R194L	probably benign	Het
Spata31h1	C	T	10: 82,119,654 (GRCm39)	S482N	probably damaging	Het
Tbx4	T	A	11: 85,790,621 (GRCm39)	Y154*	probably null	Het
Ttn	A	G	2: 76,562,304 (GRCm39)	V28847A	possibly damaging	Het
Utp6	T	A	11: 79,839,896 (GRCm39)	Q264L	possibly damaging	Het
Vim	A	G	2: 13,585,491 (GRCm39)	R424G	probably damaging	Het
Vmn1r216	A	C	13: 23,283,649 (GRCm39)	T111P	probably damaging	Het
Wnt11	G	A	7: 98,499,566 (GRCm39)	A244T	probably damaging	Het
Zbtb26	A	C	2: 37,326,261 (GRCm39)	N247K	probably benign	Het
Zfp629	T	G	7: 127,209,203 (GRCm39)		probably benign	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
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
R9350:Trim24	UTSW	6	37,892,208 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-12-18