Mutagenetix > Incidental Mutation

Incidental Mutation 'R8096:Trim24'

630190

Institutional Source

Beutler Lab

Gene Symbol

Trim24

Ensembl Gene

ENSMUSG00000029833

Gene Name

tripartite motif-containing 24

Synonyms

D430004I05Rik, A130082H20Rik, TIF1alpha, Tif1a

MMRRC Submission

067528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37847746-37943231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37935592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 895 (S895I)

Ref Sequence

ENSEMBL: ENSMUSP00000031859 (fasta)

Gene Model

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

AlphaFold

Q64127

Predicted Effect

probably benign
Transcript: ENSMUST00000031859
AA Change: S895I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031859
Gene: ENSMUSG00000029833
AA Change: S895I

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: S825I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114001
Gene: ENSMUSG00000029833
AA Change: S825I

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: S861I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113063
Gene: ENSMUSG00000029833
AA Change: S861I

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: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.3%

Validation Efficiency

98% (44/45)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	G	A	14: 54,882,726 (GRCm39)	A999V	possibly damaging	Het
Actn4	A	G	7: 28,594,008 (GRCm39)	I833T	possibly damaging	Het
Actn4	C	A	7: 28,601,338 (GRCm39)	R470L	probably damaging	Het
Adgre4	T	A	17: 56,127,700 (GRCm39)	I580N	probably damaging	Het
Arid5b	T	A	10: 68,021,982 (GRCm39)	T203S	probably benign	Het
Astn1	A	G	1: 158,436,890 (GRCm39)	Y824C	probably damaging	Het
Cacna2d3	A	G	14: 28,825,657 (GRCm39)	V506A	possibly damaging	Het
Cdk17	T	G	10: 93,052,229 (GRCm39)	M103R	probably damaging	Het
Clca3a1	T	A	3: 144,455,446 (GRCm39)	E449V	probably damaging	Het
Cux2	A	G	5: 122,007,160 (GRCm39)	Y834H	possibly damaging	Het
Dynlrb2	A	G	8: 117,234,256 (GRCm39)	T7A	possibly damaging	Het
Ggcx	G	A	6: 72,406,976 (GRCm39)	R704Q	probably benign	Het
Gpr87	A	T	3: 59,087,229 (GRCm39)	L92Q	possibly damaging	Het
Grik1	C	T	16: 87,803,355 (GRCm39)	G279E		Het
Igsf10	G	T	3: 59,236,380 (GRCm39)	T1267N	probably damaging	Het
Mrc2	G	T	11: 105,234,333 (GRCm39)	R951L	probably damaging	Het
Muc4	T	A	16: 32,575,764 (GRCm39)	S1755T	unknown	Het
Muc5b	T	C	7: 141,403,292 (GRCm39)	V751A	unknown	Het
Or10a3	A	T	7: 108,480,248 (GRCm39)	C188*	probably null	Het
Or1l4	T	A	2: 37,092,078 (GRCm39)	V275E	probably damaging	Het
Or8u9	T	A	2: 86,002,056 (GRCm39)	Y35F	probably damaging	Het
Pclo	A	G	5: 14,762,975 (GRCm39)	Y531C		Het
Pigr	A	G	1: 130,774,247 (GRCm39)	E409G	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rsph14	T	A	10: 74,795,493 (GRCm39)	I231F	possibly damaging	Het
Ryr1	A	G	7: 28,708,626 (GRCm39)	S4812P	unknown	Het
Scgb2b24	T	A	7: 33,438,646 (GRCm39)		probably null	Het
Scn2a	T	A	2: 65,594,366 (GRCm39)	H1738Q	probably damaging	Het
Scrib	A	T	15: 75,934,558 (GRCm39)	D678E	probably benign	Het
Slc39a8	T	C	3: 135,590,417 (GRCm39)	F370S	probably damaging	Het
Sphkap	A	T	1: 83,255,279 (GRCm39)	D823E	probably damaging	Het
Srrm3	T	A	5: 135,898,094 (GRCm39)	I555N	unknown	Het
Stx19	A	C	16: 62,642,524 (GRCm39)	E113D	possibly damaging	Het
Tex30	A	T	1: 44,127,663 (GRCm39)	Y91N	probably damaging	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Tnik	G	A	3: 28,715,927 (GRCm39)	M1180I	possibly damaging	Het
Tnn	C	T	1: 159,950,411 (GRCm39)	A732T	probably damaging	Het
Tpra1	C	T	6: 88,888,699 (GRCm39)	Q294*	probably null	Het
Trim68	A	G	7: 102,327,649 (GRCm39)	S435P	probably damaging	Het
Vrtn	C	T	12: 84,696,809 (GRCm39)	R520C	probably damaging	Het
Zfp280d	T	C	9: 72,226,560 (GRCm39)	C335R	probably damaging	Het
Zfp958	G	T	8: 4,663,273 (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
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
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'- TGTCCAAAGAAACCTGCCATAG -3'
(R):5'- GCATGGATGAGCGTTCATG -3'

Sequencing Primer
(F):5'- CATAGGTGGCCTGCAAGTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2020-06-30