Incidental Mutation 'IGL01778:Trim28'
ID153744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim28
Ensembl Gene ENSMUSG00000005566
Gene Nametripartite motif-containing 28
SynonymsKRIP-1, Tif1b, KAP-1, MommeD9
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01778
Quality Score
Status
Chromosome7
Chromosomal Location12999114-13031035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13030702 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 782 (V782D)
Ref Sequence ENSEMBL: ENSMUSP00000005705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005705] [ENSMUST00000005711] [ENSMUST00000005714] [ENSMUST00000125964] [ENSMUST00000165394] [ENSMUST00000210587] [ENSMUST00000211344] [ENSMUST00000211369] [ENSMUST00000211626]
Predicted Effect probably damaging
Transcript: ENSMUST00000005705
AA Change: V782D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566
AA Change: V782D

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
low complexity region 37 57 N/A INTRINSIC
RING 66 121 1.2e-7 SMART
BBOX 149 196 2.97e-12 SMART
BBOX 205 246 1.11e-11 SMART
BBC 253 379 7.92e-39 SMART
low complexity region 420 432 N/A INTRINSIC
low complexity region 525 551 N/A INTRINSIC
low complexity region 555 576 N/A INTRINSIC
PHD 627 670 2.16e-9 SMART
RING 628 669 8.32e0 SMART
BROMO 697 801 6.5e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000005711
SMART Domains Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916

DomainStartEndE-ValueType
Pfam:Snf7 17 187 9.5e-50 PFAM
coiled coil region 196 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000005714
SMART Domains Protein: ENSMUSP00000005714
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 32 173 8.83e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123541
SMART Domains Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 1 162 2.43e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125136
Predicted Effect probably benign
Transcript: ENSMUST00000125964
SMART Domains Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 20 161 3.67e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149061
Predicted Effect probably benign
Transcript: ENSMUST00000165394
SMART Domains Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 2 76 4.51e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209577
Predicted Effect probably benign
Transcript: ENSMUST00000210587
Predicted Effect probably benign
Transcript: ENSMUST00000211344
Predicted Effect probably benign
Transcript: ENSMUST00000211369
Predicted Effect probably benign
Transcript: ENSMUST00000211626
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 mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted disruption of this gene develop normally until the blastocyst stage and undergo uterine implantation, but become arrested at the early egg-cylinder stage, fail to gastrulate, and are completely resorbed by E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Trim28
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0113:Trim28 UTSW 7 13028701 missense probably damaging 1.00
R0610:Trim28 UTSW 7 13025784 splice site probably benign
R1558:Trim28 UTSW 7 13027834 missense probably damaging 1.00
R1650:Trim28 UTSW 7 13030849 missense possibly damaging 0.79
R3120:Trim28 UTSW 7 13028414 missense probably damaging 1.00
R4022:Trim28 UTSW 7 13028558 unclassified probably benign
R4173:Trim28 UTSW 7 13029878 missense probably benign 0.00
R4237:Trim28 UTSW 7 13027911 missense possibly damaging 0.94
R4379:Trim28 UTSW 7 13029480 missense probably damaging 0.99
R5206:Trim28 UTSW 7 13025348 missense probably benign 0.01
R5754:Trim28 UTSW 7 13029109 missense probably benign 0.12
R6788:Trim28 UTSW 7 13025346 missense probably benign 0.00
R6864:Trim28 UTSW 7 13029458 missense possibly damaging 0.85
R7089:Trim28 UTSW 7 13024906 missense not run
X0050:Trim28 UTSW 7 13029471 missense probably benign 0.10
Posted On2014-02-04