Incidental Mutation 'R1385:Trim33'
ID 163204
Institutional Source Beutler Lab
Gene Symbol Trim33
Ensembl Gene ENSMUSG00000033014
Gene Name tripartite motif-containing 33
Synonyms 8030451N04Rik, ectodermin, Ecto, Tif1g
MMRRC Submission 039447-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1385 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 103186609-103266086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103218266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 272 (K272E)
Ref Sequence ENSEMBL: ENSMUSP00000029444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029444] [ENSMUST00000106860]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029444
AA Change: K272E

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: K272E

DomainStartEndE-ValueType
low complexity region 6 31 N/A INTRINSIC
low complexity region 33 134 N/A INTRINSIC
PHD 138 199 9.85e0 SMART
RING 139 198 2.12e-8 SMART
BBOX 226 273 1.24e-9 SMART
RING 231 293 2.01e0 SMART
BBOX 285 326 1.54e-10 SMART
BBC 333 459 7.55e-45 SMART
low complexity region 540 583 N/A INTRINSIC
low complexity region 731 773 N/A INTRINSIC
low complexity region 820 837 N/A INTRINSIC
PHD 902 945 4.15e-11 SMART
BROMO 972 1095 3.74e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106860
AA Change: K272E

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: K272E

DomainStartEndE-ValueType
low complexity region 6 31 N/A INTRINSIC
low complexity region 33 134 N/A INTRINSIC
PHD 138 199 9.85e0 SMART
RING 139 198 2.12e-8 SMART
BBOX 226 273 1.24e-9 SMART
RING 231 293 2.01e0 SMART
BBOX 285 326 1.54e-10 SMART
BBC 333 459 7.55e-45 SMART
low complexity region 540 583 N/A INTRINSIC
low complexity region 731 773 N/A INTRINSIC
low complexity region 820 837 N/A INTRINSIC
PHD 902 945 4.15e-11 SMART
BROMO 972 1078 3.52e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197779
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A G 18: 56,675,357 (GRCm39) S269P probably damaging Het
Arf3 A G 15: 98,640,494 (GRCm39) V43A probably damaging Het
Arhgap1 C A 2: 91,501,176 (GRCm39) N457K probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Bltp3b A G 10: 89,626,503 (GRCm39) N399S possibly damaging Het
Ccdc39 C T 3: 33,875,561 (GRCm39) E544K probably damaging Het
Cfap44 A G 16: 44,291,138 (GRCm39) E1546G probably damaging Het
Cntn6 A G 6: 104,838,861 (GRCm39) I900V probably benign Het
Edem1 A G 6: 108,823,645 (GRCm39) N347S probably damaging Het
Erich6 A G 3: 58,544,251 (GRCm39) I112T probably benign Het
Gemin2 A G 12: 59,064,932 (GRCm39) probably null Het
Hunk T A 16: 90,269,374 (GRCm39) V306E possibly damaging Het
Hydin A G 8: 111,249,836 (GRCm39) I2260V probably benign Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Itgbl1 A G 14: 123,898,923 (GRCm39) probably null Het
Iws1 T A 18: 32,223,483 (GRCm39) N630K probably benign Het
Lama2 C A 10: 27,100,039 (GRCm39) R822L probably benign Het
Lrrc56 A G 7: 140,785,438 (GRCm39) D130G probably damaging Het
Mageb11 T A X: 89,935,874 (GRCm39) C43S probably benign Het
Malrd1 A T 2: 16,047,039 (GRCm39) I1722F unknown Het
Mark4 G T 7: 19,159,952 (GRCm39) probably null Het
Muc5b T C 7: 141,415,874 (GRCm39) V2940A probably benign Het
Mxd1 T A 6: 86,628,549 (GRCm39) Q62L probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Nr2c2 T G 6: 92,131,451 (GRCm39) F171C probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nynrin A T 14: 56,102,356 (GRCm39) Q675L probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ocstamp T C 2: 165,237,959 (GRCm39) D435G probably benign Het
Pdzd2 T C 15: 12,411,108 (GRCm39) T553A probably benign Het
Pllp A G 8: 95,405,996 (GRCm39) Y96H probably benign Het
Polg2 A G 11: 106,659,149 (GRCm39) S455P probably damaging Het
Ppp1r9b A G 11: 94,883,037 (GRCm39) T222A probably benign Het
Prkcd G A 14: 30,329,362 (GRCm39) T26I probably damaging Het
Prkcq A G 2: 11,261,097 (GRCm39) H383R probably damaging Het
Prune2 A G 19: 17,102,312 (GRCm39) I2490M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Scn9a G A 2: 66,393,886 (GRCm39) P229L probably damaging Het
Serpinb5 A G 1: 106,803,853 (GRCm39) T180A probably damaging Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sphk2 A G 7: 45,361,715 (GRCm39) I82T probably 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
Treml1 T G 17: 48,667,226 (GRCm39) V37G probably damaging Het
Trpv6 T C 6: 41,598,063 (GRCm39) D748G probably benign Het
Ubr4 A G 4: 139,129,923 (GRCm39) H681R probably benign Het
Vmn2r82 A T 10: 79,232,325 (GRCm39) R775* probably null Het
Xpo1 T C 11: 23,211,863 (GRCm39) L8S probably damaging Het
Zfand4 G A 6: 116,250,599 (GRCm39) G10R probably damaging Het
Zfp119a T A 17: 56,172,826 (GRCm39) H339L probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Trim33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Trim33 APN 3 103,237,498 (GRCm39) missense probably benign 0.44
IGL00981:Trim33 APN 3 103,259,311 (GRCm39) splice site probably benign
IGL01010:Trim33 APN 3 103,254,031 (GRCm39) nonsense probably null
IGL01025:Trim33 APN 3 103,261,234 (GRCm39) utr 3 prime probably benign
IGL01082:Trim33 APN 3 103,234,175 (GRCm39) missense possibly damaging 0.49
IGL02245:Trim33 APN 3 103,254,086 (GRCm39) critical splice donor site probably null
IGL02291:Trim33 APN 3 103,234,181 (GRCm39) missense probably damaging 1.00
IGL03248:Trim33 APN 3 103,218,289 (GRCm39) unclassified probably benign
IGL03400:Trim33 APN 3 103,236,459 (GRCm39) missense probably damaging 0.99
abilene UTSW 3 103,228,875 (GRCm39) missense probably damaging 0.99
Bemoaned UTSW 3 103,234,109 (GRCm39) missense possibly damaging 0.92
Excision UTSW 3 103,251,892 (GRCm39) missense probably damaging 1.00
Peaked UTSW 3 103,244,848 (GRCm39) critical splice donor site probably null
Pike UTSW 3 103,218,201 (GRCm39) missense probably damaging 0.98
westworld UTSW 3 103,234,217 (GRCm39) missense possibly damaging 0.46
R0143:Trim33 UTSW 3 103,259,417 (GRCm39) missense probably benign 0.00
R0471:Trim33 UTSW 3 103,234,217 (GRCm39) missense possibly damaging 0.46
R0513:Trim33 UTSW 3 103,217,700 (GRCm39) missense probably damaging 1.00
R0573:Trim33 UTSW 3 103,259,306 (GRCm39) splice site probably benign
R0586:Trim33 UTSW 3 103,217,660 (GRCm39) missense probably damaging 0.99
R1103:Trim33 UTSW 3 103,218,201 (GRCm39) missense probably damaging 0.98
R1157:Trim33 UTSW 3 103,261,146 (GRCm39) missense probably damaging 1.00
R1328:Trim33 UTSW 3 103,260,913 (GRCm39) missense possibly damaging 0.86
R1331:Trim33 UTSW 3 103,217,670 (GRCm39) missense probably damaging 0.99
R1397:Trim33 UTSW 3 103,217,750 (GRCm39) unclassified probably benign
R1785:Trim33 UTSW 3 103,236,536 (GRCm39) frame shift probably null
R1848:Trim33 UTSW 3 103,231,956 (GRCm39) unclassified probably benign
R1903:Trim33 UTSW 3 103,244,760 (GRCm39) missense probably damaging 1.00
R3404:Trim33 UTSW 3 103,228,875 (GRCm39) missense probably damaging 0.99
R3878:Trim33 UTSW 3 103,259,321 (GRCm39) missense probably damaging 1.00
R4156:Trim33 UTSW 3 103,217,630 (GRCm39) missense possibly damaging 0.94
R4281:Trim33 UTSW 3 103,236,402 (GRCm39) missense probably damaging 0.99
R4570:Trim33 UTSW 3 103,237,481 (GRCm39) missense probably damaging 0.96
R4809:Trim33 UTSW 3 103,236,572 (GRCm39) missense possibly damaging 0.91
R4904:Trim33 UTSW 3 103,238,963 (GRCm39) missense possibly damaging 0.46
R5168:Trim33 UTSW 3 103,248,997 (GRCm39) nonsense probably null
R5458:Trim33 UTSW 3 103,237,496 (GRCm39) missense possibly damaging 0.64
R5910:Trim33 UTSW 3 103,251,892 (GRCm39) missense probably damaging 1.00
R6195:Trim33 UTSW 3 103,244,848 (GRCm39) critical splice donor site probably null
R6331:Trim33 UTSW 3 103,248,925 (GRCm39) missense probably benign 0.00
R6636:Trim33 UTSW 3 103,261,035 (GRCm39) missense probably damaging 1.00
R6642:Trim33 UTSW 3 103,244,830 (GRCm39) missense probably damaging 0.99
R6783:Trim33 UTSW 3 103,259,403 (GRCm39) missense probably damaging 1.00
R6856:Trim33 UTSW 3 103,259,365 (GRCm39) missense probably damaging 0.97
R7220:Trim33 UTSW 3 103,234,109 (GRCm39) missense possibly damaging 0.92
R7325:Trim33 UTSW 3 103,228,952 (GRCm39) missense possibly damaging 0.93
R7374:Trim33 UTSW 3 103,217,639 (GRCm39) missense probably damaging 0.98
R7430:Trim33 UTSW 3 103,218,219 (GRCm39) missense possibly damaging 0.92
R7438:Trim33 UTSW 3 103,253,956 (GRCm39) splice site probably benign
R7491:Trim33 UTSW 3 103,233,464 (GRCm39) missense probably benign 0.28
R8001:Trim33 UTSW 3 103,218,831 (GRCm39) critical splice donor site probably null
R8127:Trim33 UTSW 3 103,239,043 (GRCm39) missense possibly damaging 0.66
R8326:Trim33 UTSW 3 103,218,770 (GRCm39) nonsense probably null
R8334:Trim33 UTSW 3 103,261,145 (GRCm39) missense probably benign 0.06
R8813:Trim33 UTSW 3 103,254,052 (GRCm39) missense probably benign 0.01
R8828:Trim33 UTSW 3 103,236,392 (GRCm39) missense probably damaging 0.97
R8894:Trim33 UTSW 3 103,218,807 (GRCm39) missense probably damaging 1.00
R9239:Trim33 UTSW 3 103,237,453 (GRCm39) missense probably benign 0.08
R9433:Trim33 UTSW 3 103,228,979 (GRCm39) critical splice donor site probably null
R9495:Trim33 UTSW 3 103,239,074 (GRCm39) missense probably benign 0.17
R9514:Trim33 UTSW 3 103,239,074 (GRCm39) missense probably benign 0.17
R9564:Trim33 UTSW 3 103,238,965 (GRCm39) missense probably benign 0.28
R9595:Trim33 UTSW 3 103,259,350 (GRCm39) missense probably damaging 1.00
R9722:Trim33 UTSW 3 103,261,146 (GRCm39) missense possibly damaging 0.55
R9784:Trim33 UTSW 3 103,244,823 (GRCm39) missense possibly damaging 0.66
RF005:Trim33 UTSW 3 103,187,528 (GRCm39) frame shift probably null
RF007:Trim33 UTSW 3 103,187,533 (GRCm39) small deletion probably benign
RF014:Trim33 UTSW 3 103,236,408 (GRCm39) missense possibly damaging 0.94
RF061:Trim33 UTSW 3 103,187,533 (GRCm39) small deletion probably benign
RF064:Trim33 UTSW 3 103,187,511 (GRCm39) frame shift probably null
Z1176:Trim33 UTSW 3 103,261,043 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTCTTCCACACCCTAAGACTTGGTAGA -3'
(R):5'- GCTGACCAGATGTTCCAACAGACTC -3'

Sequencing Primer
(F):5'- TTAAGAGCAAGTTACAAAGTTTTCAG -3'
(R):5'- GGCATACACATACACAGGTGTGTA -3'
Posted On 2014-03-17