Incidental Mutation 'R4686:Trim24'
ID 353669
Institutional Source Beutler Lab
Gene Symbol Trim24
Ensembl Gene ENSMUSG00000029833
Gene Name tripartite motif-containing 24
Synonyms D430004I05Rik, A130082H20Rik, TIF1alpha, Tif1a
MMRRC Submission 041937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4686 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 37847746-37943231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37885240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 191 (H191R)
Ref Sequence ENSEMBL: ENSMUSP00000113063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031859] [ENSMUST00000120238] [ENSMUST00000120428]
AlphaFold Q64127
Predicted Effect probably damaging
Transcript: ENSMUST00000031859
AA Change: H191R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031859
Gene: ENSMUSG00000029833
AA Change: H191R

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 probably damaging
Transcript: ENSMUST00000120238
AA Change: H121R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114001
Gene: ENSMUSG00000029833
AA Change: H121R

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 probably damaging
Transcript: ENSMUST00000120428
AA Change: H191R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113063
Gene: ENSMUSG00000029833
AA Change: H191R

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: ENSMUST00000149561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153004
Meta Mutation Damage Score 0.9524 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (68/70)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,983,837 (GRCm39) N411S probably damaging Het
Adnp A C 2: 168,024,309 (GRCm39) C995W possibly damaging Het
Akap6 CA C 12: 52,934,406 (GRCm39) probably null Het
Ano2 T G 6: 125,767,254 (GRCm39) I228M probably benign Het
Arhgap21 T C 2: 20,868,033 (GRCm39) D830G probably damaging Het
Atp13a2 G A 4: 140,730,587 (GRCm39) probably null Het
Ccdc175 C T 12: 72,159,052 (GRCm39) S629N probably damaging Het
Cdhr4 T C 9: 107,872,883 (GRCm39) W311R probably benign Het
Chaf1b A G 16: 93,681,472 (GRCm39) H30R probably benign Het
Clnk G A 5: 38,899,180 (GRCm39) probably benign Het
Copb1 A G 7: 113,820,971 (GRCm39) S773P possibly damaging Het
Cse1l A G 2: 166,774,080 (GRCm39) D198G probably damaging Het
Ears2 A G 7: 121,647,427 (GRCm39) S286P probably damaging Het
Efcab7 A G 4: 99,735,318 (GRCm39) E114G probably benign Het
Fanca G C 8: 123,995,673 (GRCm39) probably benign Het
Flt3 A G 5: 147,313,858 (GRCm39) L64P probably damaging Het
Gabrb1 A G 5: 71,857,365 (GRCm39) T3A possibly damaging Het
Gm10384 T C 15: 36,871,897 (GRCm39) noncoding transcript Het
Gm5117 G A 8: 32,229,284 (GRCm39) noncoding transcript Het
Gpr141 T A 13: 19,935,951 (GRCm39) I275F probably benign Het
Greb1l A T 18: 10,522,112 (GRCm39) E736V probably damaging Het
Hc T C 2: 34,929,260 (GRCm39) E279G possibly damaging Het
Hivep1 C T 13: 42,309,326 (GRCm39) T522M probably benign Het
Hspa12a T A 19: 58,788,181 (GRCm39) E547V possibly damaging Het
Il10ra A G 9: 45,180,357 (GRCm39) L5S probably damaging Het
Iqcf6 G T 9: 106,504,543 (GRCm39) W69L probably damaging Het
Iqgap2 T C 13: 95,858,117 (GRCm39) N379S probably damaging Het
Itpr2 A G 6: 146,131,273 (GRCm39) I1977T probably damaging Het
Kcnq1 A T 7: 142,661,466 (GRCm39) Y124F probably benign Het
Lamp5 C T 2: 135,900,923 (GRCm39) T41M probably damaging Het
Lgr5 A G 10: 115,294,648 (GRCm39) probably benign Het
Mlec A G 5: 115,288,355 (GRCm39) I167T possibly damaging Het
Myf6 A G 10: 107,329,689 (GRCm39) V198A probably benign Het
Nceh1 C T 3: 27,295,818 (GRCm39) R360C probably damaging Het
Nos2 C A 11: 78,819,456 (GRCm39) T56N possibly damaging Het
Npw T G 17: 24,876,386 (GRCm39) H175P probably benign Het
Nrxn3 A T 12: 89,477,421 (GRCm39) I899F probably damaging Het
Ociad1 A G 5: 73,464,078 (GRCm39) T179A possibly damaging Het
Or1e19 A G 11: 73,316,264 (GRCm39) S182P probably benign Het
Or52b4 A G 7: 102,184,356 (GRCm39) Y134C probably damaging Het
Or8b48 T A 9: 38,493,327 (GRCm39) F251L probably damaging Het
Pacsin2 T C 15: 83,265,976 (GRCm39) N74D probably benign Het
Pcdh7 A G 5: 58,286,511 (GRCm39) I1196V probably benign Het
Pdxk A T 10: 78,282,837 (GRCm39) probably null Het
Phb2 G A 6: 124,690,105 (GRCm39) probably null Het
Pus7l T A 15: 94,438,092 (GRCm39) N251I probably damaging Het
Rgs7bp T A 13: 105,100,597 (GRCm39) N226I probably damaging Het
Runx2 T A 17: 44,950,572 (GRCm39) D327V probably damaging Het
Srp68 A T 11: 116,156,227 (GRCm39) C172S probably damaging Het
Stk25 A G 1: 93,551,142 (GRCm39) probably null Het
Tbrg4 C T 11: 6,568,468 (GRCm39) R437Q probably benign Het
Tedc2 C T 17: 24,436,862 (GRCm39) probably null Het
Teddm1a T A 1: 153,768,196 (GRCm39) I220N probably damaging Het
Thoc1 G T 18: 9,970,312 (GRCm39) E221* probably null Het
Tmem132d G T 5: 127,869,674 (GRCm39) D553E possibly damaging Het
Topors A T 4: 40,261,694 (GRCm39) V530D probably benign Het
Tpx2 T C 2: 152,731,103 (GRCm39) V515A possibly damaging Het
Ttn G A 2: 76,567,914 (GRCm39) R27660W probably damaging Het
Vmn1r203 T C 13: 22,708,528 (GRCm39) L103P probably damaging Het
Vmn1r233 C T 17: 21,214,368 (GRCm39) S194N probably benign Het
Vmn2r108 T C 17: 20,691,636 (GRCm39) K296E probably damaging Het
Vmn2r88 G A 14: 51,650,796 (GRCm39) E170K probably benign Het
Zfp740 C T 15: 102,117,184 (GRCm39) probably benign Het
Zmym5 A G 14: 57,049,618 (GRCm39) probably benign 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
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
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'- TTGCCTAGTTCCTGGAATGTC -3'
(R):5'- ACCAAATTGAATTTACAGAAGCAGG -3'

Sequencing Primer
(F):5'- AAGGCTGCATAGTGAGACCTTGTC -3'
(R):5'- TTGAATTTACAGAAGCAGGAGAGTTG -3'
Posted On 2015-10-21