Incidental Mutation 'R4235:Trim24'
ID 321063
Institutional Source Beutler Lab
Gene Symbol Trim24
Ensembl Gene ENSMUSG00000029833
Gene Name tripartite motif-containing 24
Synonyms D430004I05Rik, A130082H20Rik, TIF1alpha, Tif1a
MMRRC Submission 041052-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4235 (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 37941675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 911 (D911G)
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: D945G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031859
Gene: ENSMUSG00000029833
AA Change: D945G

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: D875G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114001
Gene: ENSMUSG00000029833
AA Change: D875G

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: D911G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113063
Gene: ENSMUSG00000029833
AA Change: D911G

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
Meta Mutation Damage Score 0.9163 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
5730596B20Rik G T 6: 52,155,941 (GRCm39) probably benign Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atp7b A G 8: 22,501,039 (GRCm39) Y955H possibly damaging Het
Bnc2 A G 4: 84,211,751 (GRCm39) V231A probably damaging Het
Bod1l A G 5: 41,978,798 (GRCm39) S839P probably damaging Het
Casp8 T A 1: 58,872,857 (GRCm39) H264Q possibly damaging Het
Cc2d1b A T 4: 108,482,549 (GRCm39) probably benign Het
Cpne6 A T 14: 55,751,057 (GRCm39) probably benign Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dgkd T A 1: 87,859,704 (GRCm39) L774* probably null Het
Fbxl2 T A 9: 113,818,231 (GRCm39) N205I probably benign Het
Fcgbpl1 T A 7: 27,856,073 (GRCm39) D1953E probably damaging Het
Fkbp15 A T 4: 62,254,693 (GRCm39) I269K probably benign Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Has1 G T 17: 18,070,298 (GRCm39) R208S possibly damaging Het
Hecw1 C G 13: 14,491,724 (GRCm39) A423P probably benign Het
Hspa12b T C 2: 130,980,932 (GRCm39) V162A probably benign Het
Ifi208 T G 1: 173,510,477 (GRCm39) S211A probably benign Het
Ighv6-3 T C 12: 114,355,494 (GRCm39) E65G probably damaging Het
Igkv9-120 A T 6: 68,027,317 (GRCm39) D77V probably benign Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kdm2a A G 19: 4,372,549 (GRCm39) I932T probably damaging Het
Krt17 T C 11: 100,148,694 (GRCm39) T279A possibly damaging Het
Lamp1 T C 8: 13,217,192 (GRCm39) V67A possibly damaging Het
Limk1 T C 5: 134,699,332 (GRCm39) I142V probably benign Het
Mamdc2 T C 19: 23,351,381 (GRCm39) N182D possibly damaging Het
Mcpt1 G A 14: 56,256,017 (GRCm39) probably null Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mfsd10 G T 5: 34,792,969 (GRCm39) T44N probably damaging Het
Mrps27 T C 13: 99,541,549 (GRCm39) S218P probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Neil2 A C 14: 63,429,290 (GRCm39) M1R probably null Het
Nelfcd T C 2: 174,268,841 (GRCm39) F587L probably damaging Het
Nfil3 T C 13: 53,122,835 (GRCm39) D23G probably benign Het
Nit2 T C 16: 56,977,523 (GRCm39) K169R probably benign Het
Nxt1 T C 2: 148,517,267 (GRCm39) S3P probably benign Het
Ogt A G X: 100,711,131 (GRCm39) N434D probably damaging Het
Or56a3 T A 7: 104,734,994 (GRCm39) S24T possibly damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pramel25 G C 4: 143,521,344 (GRCm39) C320S probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rsl1 T C 13: 67,325,226 (GRCm39) probably null Het
Sobp G A 10: 42,898,896 (GRCm39) H230Y probably damaging Het
Sptan1 A G 2: 29,916,600 (GRCm39) E2096G probably damaging Het
Tie1 G T 4: 118,335,602 (GRCm39) S797* probably null Het
Tmem266 T C 9: 55,325,391 (GRCm39) I186T probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tnfaip6 T C 2: 51,940,876 (GRCm39) F139S probably damaging Het
Tnrc6a T C 7: 122,770,903 (GRCm39) S898P probably benign Het
Tyw5 T C 1: 57,427,647 (GRCm39) probably benign Het
Ubr3 C T 2: 69,846,729 (GRCm39) Q1651* probably null Het
Unc13c T A 9: 73,438,234 (GRCm39) I1943F possibly damaging Het
Usp47 T A 7: 111,709,255 (GRCm39) S1334T probably damaging Het
Vmn1r215 T A 13: 23,260,101 (GRCm39) V47E probably benign Het
Vmn1r224 T A 17: 20,639,624 (GRCm39) M67K possibly damaging Het
Wdfy3 T A 5: 102,070,500 (GRCm39) probably null Het
Zfc3h1 T C 10: 115,254,704 (GRCm39) Y1433H 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
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'- CTCAATTATGGGTCTGCGGG -3'
(R):5'- TGGCAAGCTGTCTGGTTAAG -3'

Sequencing Primer
(F):5'- AACCTGTGTGAAAACATAGTAGC -3'
(R):5'- GCAAGCTGTCTGGTTAAGATCACTC -3'
Posted On 2015-06-12