Incidental Mutation 'R0734:Trim24'
ID 68145
Institutional Source Beutler Lab
Gene Symbol Trim24
Ensembl Gene ENSMUSG00000029833
Gene Name tripartite motif-containing 24
Synonyms D430004I05Rik, A130082H20Rik, TIF1alpha, Tif1a
MMRRC Submission 038915-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0734 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 37847746-37943231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37896400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 286 (Y286H)
Ref Sequence ENSEMBL: ENSMUSP00000113063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031859] [ENSMUST00000120238] [ENSMUST00000120428]
AlphaFold Q64127
Predicted Effect possibly damaging
Transcript: ENSMUST00000031859
AA Change: Y286H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031859
Gene: ENSMUSG00000029833
AA Change: Y286H

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000120238
AA Change: Y216H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114001
Gene: ENSMUSG00000029833
AA Change: Y216H

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000120428
AA Change: Y286H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113063
Gene: ENSMUSG00000029833
AA Change: Y286H

DomainStartEndE-ValueType
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 0.1795 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 93.3%
Validation Efficiency 99% (80/81)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,668,198 (GRCm39) S530T probably benign Het
Acer2 G T 4: 86,835,796 (GRCm39) K223N probably benign Het
Adam19 T G 11: 46,018,230 (GRCm39) C431G probably damaging Het
Adamts16 T G 13: 70,886,600 (GRCm39) probably benign Het
Aox1 A T 1: 58,344,500 (GRCm39) E531V probably benign Het
Apaf1 A T 10: 90,872,883 (GRCm39) N720K probably benign Het
Atrnl1 T A 19: 57,643,293 (GRCm39) W394R probably damaging Het
Bcl6 T C 16: 23,786,889 (GRCm39) E634G probably damaging Het
Cfap65 T A 1: 74,958,046 (GRCm39) Y954F probably damaging Het
Cobl A G 11: 12,325,971 (GRCm39) V168A probably damaging Het
Cped1 C T 6: 22,085,040 (GRCm39) P210S probably damaging Het
Crb1 C T 1: 139,264,822 (GRCm39) V199M probably benign Het
Cyp2j6 A T 4: 96,412,081 (GRCm39) probably benign Het
Dhrs3 C G 4: 144,653,746 (GRCm39) S289W probably damaging Het
Dido1 T G 2: 180,301,835 (GRCm39) Q2023P probably benign Het
Dlg4 G A 11: 69,933,531 (GRCm39) G550R probably damaging Het
Dnah12 C A 14: 26,521,970 (GRCm39) H1928N probably benign Het
Dthd1 A C 5: 62,996,753 (GRCm39) probably benign Het
Erg C A 16: 95,170,884 (GRCm39) G269C possibly damaging Het
Erich6 G A 3: 58,536,809 (GRCm39) probably benign Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fancc T C 13: 63,479,656 (GRCm39) R300G probably damaging Het
Fcer1g T A 1: 171,058,748 (GRCm39) K47* probably null Het
Flt4 A G 11: 49,517,544 (GRCm39) T289A possibly damaging Het
Gcnt2 T A 13: 41,013,997 (GRCm39) F56Y probably benign Het
Gpatch8 G T 11: 102,372,226 (GRCm39) S437R unknown Het
Grin2a T A 16: 9,397,475 (GRCm39) I871F possibly damaging Het
Hsd17b4 T C 18: 50,303,844 (GRCm39) V439A possibly damaging Het
Hykk A T 9: 54,853,716 (GRCm39) K346M possibly damaging Het
Ifi208 T C 1: 173,510,901 (GRCm39) L352S probably damaging Het
Ikzf1 T C 11: 11,708,195 (GRCm39) V110A probably damaging Het
Irak3 A T 10: 119,981,542 (GRCm39) probably benign Het
Lamp5 T A 2: 135,900,950 (GRCm39) V50E probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrch3 C T 16: 32,817,853 (GRCm39) R570* probably null Het
Map1lc3a T C 2: 155,118,896 (GRCm39) V20A possibly damaging Het
Map3k14 C A 11: 103,117,826 (GRCm39) K655N probably benign Het
Mark2 A G 19: 7,263,346 (GRCm39) probably benign Het
Mbtd1 G A 11: 93,813,972 (GRCm39) G205D probably damaging Het
Med13 T C 11: 86,192,063 (GRCm39) T861A probably benign Het
Meltf T A 16: 31,700,776 (GRCm39) Y99N probably damaging Het
Mex3d G A 10: 80,217,366 (GRCm39) T617I possibly damaging Het
Muc13 G A 16: 33,623,452 (GRCm39) V249I probably damaging Het
Myo18a C A 11: 77,738,230 (GRCm39) P1688Q probably damaging Het
Naaladl1 A T 19: 6,162,904 (GRCm39) probably null Het
Ncoa3 T A 2: 165,911,111 (GRCm39) probably benign Het
Nf2 T C 11: 4,770,409 (GRCm39) T67A probably benign Het
Nin A G 12: 70,076,887 (GRCm39) V1056A probably benign Het
Or1p1 A T 11: 74,179,772 (GRCm39) Q100L probably damaging Het
Or4d10c T A 19: 12,065,483 (GRCm39) R224S probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
P3h1 T C 4: 119,095,885 (GRCm39) L331P probably damaging Het
Pabpc4l T C 3: 46,401,408 (GRCm39) K79E possibly damaging Het
Pam T A 1: 97,792,087 (GRCm39) R445* probably null Het
Pcdhb6 T C 18: 37,468,387 (GRCm39) I436T probably damaging Het
Piezo2 A G 18: 63,174,794 (GRCm39) Y1987H probably damaging Het
Plch2 G A 4: 155,080,740 (GRCm39) T477I probably damaging Het
Postn G A 3: 54,270,136 (GRCm39) G72R probably damaging Het
Proca1 G A 11: 78,092,628 (GRCm39) probably benign Het
Psip1 T A 4: 83,381,825 (GRCm39) probably benign Het
Ptprd G A 4: 76,058,834 (GRCm39) P153L probably damaging Het
Rgl1 T C 1: 152,430,051 (GRCm39) D242G probably damaging Het
Ric1 T A 19: 29,572,218 (GRCm39) I671K possibly damaging Het
Rxrg T A 1: 167,455,013 (GRCm39) C199S probably damaging Het
Sec24c A C 14: 20,743,813 (GRCm39) D1006A probably damaging Het
Sec63 A G 10: 42,672,204 (GRCm39) T173A probably benign Het
Sfxn5 T C 6: 85,244,847 (GRCm39) probably benign Het
Spam1 A G 6: 24,796,948 (GRCm39) I300V probably benign Het
Spem1 A G 11: 69,712,097 (GRCm39) L189P probably damaging Het
Sptbn2 A T 19: 4,798,151 (GRCm39) R1959* probably null Het
Timeless C T 10: 128,085,929 (GRCm39) R935W probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ttyh2 A G 11: 114,601,019 (GRCm39) probably benign Het
Zbtb21 C T 16: 97,753,827 (GRCm39) C180Y probably damaging Het
Zfp746 T C 6: 48,041,833 (GRCm39) T298A probably damaging Het
Other mutations in Trim24
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGCCAGGATCATCATCTCTCTAGCC -3'
(R):5'- TCCAAGTCCCCTAGCTGCTTCAAG -3'

Sequencing Primer
(F):5'- CAGAGTCTCTCCCTTACAGTG -3'
(R):5'- TAGGTTATGATAGATGACCAGCAC -3'
Posted On 2013-09-03