Incidental Mutation 'IGL00502:Trim33'
ID 6804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim33
Ensembl Gene ENSMUSG00000033014
Gene Name tripartite motif-containing 33
Synonyms 8030451N04Rik, ectodermin, Ecto, Tif1g
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00502
Quality Score
Status
Chromosome 3
Chromosomal Location 103186609-103266086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103237498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 185 (P185S)
Ref Sequence ENSEMBL: ENSMUSP00000142585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029444] [ENSMUST00000106860] [ENSMUST00000198706]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029444
AA Change: P614S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: P614S

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: P614S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: P614S

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 noncoding transcript
Transcript: ENSMUST00000196678
Predicted Effect probably benign
Transcript: ENSMUST00000197779
Predicted Effect probably benign
Transcript: ENSMUST00000198706
AA Change: P185S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014
AA Change: P185S

DomainStartEndE-ValueType
Blast:BBC 1 30 9e-11 BLAST
low complexity region 111 154 N/A INTRINSIC
low complexity region 302 344 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198969
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,301,278 (GRCm39) I82N probably damaging Het
Ampd2 A T 3: 107,984,712 (GRCm39) L422H probably damaging Het
Angptl2 T A 2: 33,118,406 (GRCm39) V60E probably damaging Het
Ano3 G A 2: 110,601,395 (GRCm39) probably benign Het
Arhgap40 A G 2: 158,373,078 (GRCm39) D112G probably benign Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Btrc A T 19: 45,515,704 (GRCm39) E553V probably damaging Het
Cacna1b A T 2: 24,541,212 (GRCm39) Y1323* probably null Het
Ccdc146 A G 5: 21,506,420 (GRCm39) C674R possibly damaging Het
Ccdc170 A G 10: 4,496,836 (GRCm39) D458G probably damaging Het
Cfap57 T A 4: 118,438,198 (GRCm39) M898L probably benign Het
Crybg1 C T 10: 43,834,309 (GRCm39) V1961I probably damaging Het
Dsp T C 13: 38,381,822 (GRCm39) S2257P probably damaging Het
Dytn A G 1: 63,717,999 (GRCm39) V12A probably benign Het
Foxk2 A G 11: 121,187,925 (GRCm39) probably benign Het
Galnt2l T C 8: 125,054,837 (GRCm39) M204T probably damaging Het
Gfi1b G A 2: 28,504,797 (GRCm39) Q70* probably null Het
Gsdmc T C 15: 63,676,270 (GRCm39) T58A probably benign Het
Hikeshi G A 7: 89,572,818 (GRCm39) T26I probably benign Het
Mpdz T C 4: 81,287,960 (GRCm39) D433G probably damaging Het
Ndufb5 T A 3: 32,799,048 (GRCm39) V55D probably damaging Het
Nostrin T C 2: 69,014,336 (GRCm39) S431P probably benign Het
Pdcd1lg2 A T 19: 29,423,462 (GRCm39) T169S possibly damaging Het
Plekha7 A T 7: 115,734,419 (GRCm39) M1006K probably damaging Het
Rgs6 A T 12: 83,098,097 (GRCm39) I94F probably benign Het
Rims2 A T 15: 39,370,380 (GRCm39) D938V probably damaging Het
Slc4a8 A G 15: 100,705,319 (GRCm39) T842A possibly damaging Het
Spata21 C A 4: 140,838,675 (GRCm39) probably null Het
Stk32a C T 18: 43,443,510 (GRCm39) T229I possibly damaging Het
Tent4b C T 8: 88,978,886 (GRCm39) Q63* probably null Het
Tspoap1 A G 11: 87,668,647 (GRCm39) probably null Het
Vcan A G 13: 89,840,438 (GRCm39) V742A probably benign Het
Vrtn A T 12: 84,695,837 (GRCm39) I196F probably benign Het
Wasf1 A T 10: 40,796,293 (GRCm39) I8F probably damaging Het
Ythdc2 A G 18: 44,980,879 (GRCm39) I491M probably damaging Het
Zfp292 T C 4: 34,809,775 (GRCm39) T1095A possibly damaging Het
Other mutations in Trim33
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1385:Trim33 UTSW 3 103,218,266 (GRCm39) missense possibly damaging 0.46
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
Posted On 2012-04-20