Incidental Mutation 'R1888:Trim24'
ID 211877
Institutional Source Beutler Lab
Gene Symbol Trim24
Ensembl Gene ENSMUSG00000029833
Gene Name tripartite motif-containing 24
Synonyms D430004I05Rik, A130082H20Rik, TIF1alpha, Tif1a
MMRRC Submission 039909-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1888 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 37847746-37943231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37934013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 652 (R652L)
Ref Sequence ENSEMBL: ENSMUSP00000114001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031859] [ENSMUST00000120238] [ENSMUST00000120428]
AlphaFold Q64127
Predicted Effect probably damaging
Transcript: ENSMUST00000031859
AA Change: R722L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031859
Gene: ENSMUSG00000029833
AA Change: R722L

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: R652L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114001
Gene: ENSMUSG00000029833
AA Change: R652L

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: R688L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113063
Gene: ENSMUSG00000029833
AA Change: R688L

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: ENSMUST00000135387
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,960,030 (GRCm39) M80T unknown Het
4930578I06Rik A G 14: 64,223,632 (GRCm39) L48P probably damaging Het
Abcc9 A G 6: 142,625,040 (GRCm39) S452P probably benign Het
Adgrb2 T C 4: 129,907,419 (GRCm39) F977S probably damaging Het
Adgrf5 T G 17: 43,737,896 (GRCm39) probably null Het
Adgrl4 A G 3: 151,144,914 (GRCm39) N21S probably benign Het
Adss2 A T 1: 177,612,517 (GRCm39) Y77* probably null Het
Ahnak A T 19: 8,984,452 (GRCm39) D1912V probably damaging Het
Ahnak2 A G 12: 112,740,325 (GRCm39) M1249T possibly damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Bbs12 C A 3: 37,374,712 (GRCm39) L387I probably damaging Het
Ciita T C 16: 10,328,948 (GRCm39) Y411H probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clec9a G A 6: 129,387,249 (GRCm39) V35I probably benign Het
Cntn5 T A 9: 9,984,082 (GRCm39) Q382L possibly damaging Het
Cracdl T C 1: 37,663,364 (GRCm39) K845E possibly damaging Het
Dock2 A T 11: 34,598,169 (GRCm39) I334N probably damaging Het
Dock9 G T 14: 121,862,617 (GRCm39) T833K probably benign Het
Drd2 G A 9: 49,313,442 (GRCm39) V204I probably benign Het
Fam120a A T 13: 49,039,342 (GRCm39) I938N possibly damaging Het
Fndc1 T C 17: 7,990,621 (GRCm39) E1025G unknown Het
Fsip2 G A 2: 82,774,504 (GRCm39) D64N probably benign Het
Gm14496 T A 2: 181,641,989 (GRCm39) C553* probably null Het
Gm6020 C T 19: 61,172,391 (GRCm39) H22Y possibly damaging Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Hmcn1 C G 1: 150,695,251 (GRCm39) A218P possibly damaging Het
Hpgds A G 6: 65,115,217 (GRCm39) F22S probably damaging Het
Il5ra T A 6: 106,708,874 (GRCm39) N289Y probably damaging Het
Irf2 A T 8: 47,260,388 (GRCm39) R107* probably null Het
Kcnk6 T C 7: 28,925,075 (GRCm39) I180M probably benign Het
Krtap5-3 G A 7: 141,755,979 (GRCm39) probably benign Het
Lrig1 C T 6: 94,631,859 (GRCm39) A114T probably benign Het
Lrrc37a A G 11: 103,389,587 (GRCm39) V1946A probably benign Het
Lrrc8b T C 5: 105,629,217 (GRCm39) V521A probably benign Het
Macf1 T G 4: 123,348,835 (GRCm39) I2154L possibly damaging Het
Macf1 C A 4: 123,368,505 (GRCm39) E2085D probably benign Het
Maml1 C T 11: 50,157,468 (GRCm39) A236T probably benign Het
Mdc1 C A 17: 36,165,117 (GRCm39) T1481K probably benign Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mfap3l T C 8: 61,124,424 (GRCm39) V222A possibly damaging Het
Mis18bp1 A G 12: 65,196,102 (GRCm39) I554T probably benign Het
Mpped2 T C 2: 106,529,790 (GRCm39) I13T probably benign Het
Mthfd1l C A 10: 4,056,528 (GRCm39) T948K probably damaging Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mtx3 A G 13: 92,984,191 (GRCm39) E156G probably benign Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Myh2 G A 11: 67,071,676 (GRCm39) V498M probably damaging Het
Myo15b G A 11: 115,777,899 (GRCm39) G1049S probably damaging Het
Myo1b T A 1: 51,799,562 (GRCm39) probably null Het
Ndufa2 T A 18: 36,877,573 (GRCm39) probably benign Het
Nipal2 T C 15: 34,625,167 (GRCm39) I129M possibly damaging Het
Nt5dc3 A G 10: 86,669,926 (GRCm39) N507S possibly damaging Het
Or4b12 A G 2: 90,095,913 (GRCm39) L287P probably damaging Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Pcdhb17 G A 18: 37,620,438 (GRCm39) probably null Het
Pcyt2 A G 11: 120,508,677 (GRCm39) M1T probably null Het
Pla2g2d T C 4: 138,503,126 (GRCm39) M1T probably null Het
Plekhg6 T C 6: 125,340,306 (GRCm39) T685A probably damaging Het
Pramel19 T A 4: 101,798,335 (GRCm39) V102E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pxk T C 14: 8,151,540 (GRCm38) S452P probably damaging Het
Rab42 A T 4: 132,030,529 (GRCm39) D40E probably benign Het
Rapgef6 A C 11: 54,551,654 (GRCm39) T836P probably damaging Het
Serpina3a A G 12: 104,082,362 (GRCm39) D45G probably benign Het
Sntb1 T A 15: 55,612,745 (GRCm39) R278* probably null Het
Spice1 T G 16: 44,185,989 (GRCm39) S111A probably damaging Het
Stk40 T A 4: 126,019,538 (GRCm39) L90Q probably damaging Het
Syk A G 13: 52,794,826 (GRCm39) Y520C probably damaging Het
Syngr2 G A 11: 117,704,224 (GRCm39) V170M possibly damaging Het
Tcf12 A T 9: 71,765,816 (GRCm39) D541E possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tlr4 T C 4: 66,759,409 (GRCm39) V734A probably damaging Het
Tmem132a T C 19: 10,840,863 (GRCm39) E389G probably damaging Het
Tmem150b A G 7: 4,712,044 (GRCm39) I112T probably benign Het
Tril A G 6: 53,796,577 (GRCm39) L215P probably damaging Het
Ttn G A 2: 76,623,151 (GRCm39) P15429S probably damaging Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Tubgcp2 A G 7: 139,579,183 (GRCm39) V701A probably damaging Het
Tubgcp2 A G 7: 139,586,069 (GRCm39) F407L probably damaging Het
Vmn1r30 A C 6: 58,412,475 (GRCm39) L119R possibly damaging Het
Washc5 A C 15: 59,231,174 (GRCm39) L363R probably damaging Het
Zan T C 5: 137,387,590 (GRCm39) T4874A unknown Het
Zfp420 A T 7: 29,573,933 (GRCm39) H51L probably damaging Het
Zfp512b C A 2: 181,230,235 (GRCm39) R497L probably damaging Het
Zmat4 A G 8: 24,505,177 (GRCm39) N139S probably damaging Het
Zng1 A T 19: 24,932,769 (GRCm39) V88D 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
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
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'- CGTTACTATTGTGAAGTGGCAG -3'
(R):5'- GCAGTGTGGAAGTCAATGC -3'

Sequencing Primer
(F):5'- GGCAGTATTCCAGAATGTTCTTCAG -3'
(R):5'- TTGACACAATCTGGAGCCATG -3'
Posted On 2014-06-30