Mutagenetix > Incidental Mutation

Incidental Mutation 'R0855:Trim24'

82688

Institutional Source

Beutler Lab

Gene Symbol

Trim24

Ensembl Gene

ENSMUSG00000029833

Gene Name

tripartite motif-containing 24

Synonyms

D430004I05Rik, A130082H20Rik, TIF1alpha, Tif1a

MMRRC Submission

039034-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37847746-37943231 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 37892137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 223 (C223*)

Ref Sequence

ENSEMBL: ENSMUSP00000113063 (fasta)

Gene Model

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

AlphaFold

Q64127

Predicted Effect

probably null
Transcript: ENSMUST00000031859
AA Change: C223*

SMART Domains

Protein: ENSMUSP00000031859
Gene: ENSMUSG00000029833
AA Change: C223*

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 null
Transcript: ENSMUST00000120238
AA Change: C153*

SMART Domains

Protein: ENSMUSP00000114001
Gene: ENSMUSG00000029833
AA Change: C153*

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 null
Transcript: ENSMUST00000120428
AA Change: C223*

SMART Domains

Protein: ENSMUSP00000113063
Gene: ENSMUSG00000029833
AA Change: C223*

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: ENSMUST00000123007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153004

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (35/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	A	G	18: 62,886,414 (GRCm39)		noncoding transcript	Het
Ak3	T	C	19: 29,000,345 (GRCm39)	K189E	probably benign	Het
Anks3	A	T	16: 4,773,811 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,961,761 (GRCm39)	H2378N	possibly damaging	Het
Baz1a	A	G	12: 54,947,348 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,705,929 (GRCm39)	F1504S	probably damaging	Het
Blzf1	T	C	1: 164,119,950 (GRCm39)	T353A	possibly damaging	Het
Btn1a1	C	A	13: 23,648,489 (GRCm39)	V115F	probably damaging	Het
Cd38	T	A	5: 44,060,927 (GRCm39)		probably null	Het
Cep250	T	C	2: 155,806,031 (GRCm39)	C109R	probably damaging	Het
Cnksr1	C	T	4: 133,960,377 (GRCm39)		probably benign	Het
Dmxl2	T	A	9: 54,273,724 (GRCm39)	N3048I	probably benign	Het
Impdh1	T	A	6: 29,206,971 (GRCm39)	H116L	probably damaging	Het
Kank4	C	A	4: 98,659,681 (GRCm39)	W799L	probably damaging	Het
Kcnk7	C	T	19: 5,756,103 (GRCm39)	H110Y	probably benign	Het
Mak	T	C	13: 41,223,640 (GRCm39)	E25G	probably damaging	Het
Mrpl54	G	A	10: 81,102,759 (GRCm39)		probably benign	Het
Myh10	A	C	11: 68,702,627 (GRCm39)	D1767A	possibly damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Ndufaf6	A	T	4: 11,051,169 (GRCm39)	H310Q	probably damaging	Het
Osbpl6	G	T	2: 76,415,477 (GRCm39)	G467V	probably damaging	Het
Osbpl6	A	G	2: 76,422,183 (GRCm39)	E673G	probably damaging	Het
Picalm	T	A	7: 89,840,356 (GRCm39)	D458E	possibly damaging	Het
Ppp2ca	G	A	11: 52,012,752 (GRCm39)	R294H	probably benign	Het
Prdm14	T	A	1: 13,195,761 (GRCm39)	N100I	probably benign	Het
Rbbp6	A	G	7: 122,591,471 (GRCm39)	T510A	probably benign	Het
Sars1	C	A	3: 108,334,248 (GRCm39)	E503D	probably benign	Het
Smtn	T	C	11: 3,471,880 (GRCm39)	D853G	probably damaging	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Thada	T	C	17: 84,744,083 (GRCm39)	T742A	probably damaging	Het
Tmem63a	T	C	1: 180,788,625 (GRCm39)	S321P	possibly damaging	Het
Usp48	T	C	4: 137,335,465 (GRCm39)	F213L	probably damaging	Het
Vmn2r109	A	T	17: 20,761,670 (GRCm39)	Y562*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCATCTATCTGAGCCTTGCTTTGTAACTATT -3'
(R):5'- CCAACAAAGAAAACCCTGTGTAAGCC -3'

Sequencing Primer
(F):5'- tcagccaccatcagcac -3'
(R):5'- AACACATACAAATTGCCATTTAGC -3'

Posted On

2013-11-08