Incidental Mutation 'R4173:Trim28'
ID 318206
Institutional Source Beutler Lab
Gene Symbol Trim28
Ensembl Gene ENSMUSG00000005566
Gene Name tripartite motif-containing 28
Synonyms MommeD9, KRIP-1, Tif1b, KAP-1
MMRRC Submission 041012-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4173 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 12758079-12764959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12763805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 622 (D622G)
Ref Sequence ENSEMBL: ENSMUSP00000005705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005705] [ENSMUST00000005711] [ENSMUST00000211369] [ENSMUST00000210587] [ENSMUST00000211626] [ENSMUST00000211344]
AlphaFold Q62318
Predicted Effect probably benign
Transcript: ENSMUST00000005705
AA Change: D622G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566
AA Change: D622G

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 noncoding transcript
Transcript: ENSMUST00000123603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129122
Predicted Effect probably benign
Transcript: ENSMUST00000211369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142421
Predicted Effect probably benign
Transcript: ENSMUST00000210587
Predicted Effect probably benign
Transcript: ENSMUST00000211626
Predicted Effect probably benign
Transcript: ENSMUST00000211344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149061
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akip1 C T 7: 109,306,716 (GRCm39) Q138* probably null Het
Cdk1 T C 10: 69,180,991 (GRCm39) D73G probably benign Het
Cspg4 A G 9: 56,795,214 (GRCm39) E983G probably damaging Het
Gnmt A G 17: 47,037,047 (GRCm39) V217A probably damaging Het
Myo5c A G 9: 75,153,540 (GRCm39) E142G probably damaging Het
Nr1h5 C T 3: 102,859,546 (GRCm39) R171H probably damaging Het
Opcml C T 9: 28,814,654 (GRCm39) T302I probably benign Het
Or4c58 T G 2: 89,675,122 (GRCm39) D65A probably damaging Het
Pcdha11 T C 18: 37,145,676 (GRCm39) V589A probably damaging Het
Pigl T A 11: 62,349,337 (GRCm39) F18I probably benign Het
Pip4k2b T C 11: 97,613,201 (GRCm39) K265R probably benign Het
Rora C A 9: 68,561,192 (GRCm39) T35K probably benign Het
Serpinb9e A G 13: 33,439,141 (GRCm39) N189S probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc25a45 C A 19: 5,930,611 (GRCm39) Y99* probably null Het
Smgc T C 15: 91,744,759 (GRCm39) S655P possibly damaging Het
Thbs2 A C 17: 14,901,893 (GRCm39) probably null Het
Timd2 T C 11: 46,561,787 (GRCm39) T286A probably benign Het
Trav6d-3 A G 14: 52,962,806 (GRCm39) I14M probably benign Het
Txnl4b G A 8: 110,295,706 (GRCm39) V37I probably benign Het
Ubr1 C T 2: 120,777,103 (GRCm39) probably null Het
Vps13c A G 9: 67,843,595 (GRCm39) N1959D probably benign Het
Xkr4 A G 1: 3,286,711 (GRCm39) F493S probably damaging Het
Xrn2 T C 2: 146,889,612 (GRCm39) V665A probably damaging Het
Other mutations in Trim28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Trim28 APN 7 12,764,629 (GRCm39) missense probably damaging 1.00
R0113:Trim28 UTSW 7 12,762,628 (GRCm39) missense probably damaging 1.00
R0610:Trim28 UTSW 7 12,759,711 (GRCm39) splice site probably benign
R1558:Trim28 UTSW 7 12,761,761 (GRCm39) missense probably damaging 1.00
R1650:Trim28 UTSW 7 12,764,776 (GRCm39) missense possibly damaging 0.79
R3120:Trim28 UTSW 7 12,762,341 (GRCm39) missense probably damaging 1.00
R4022:Trim28 UTSW 7 12,762,485 (GRCm39) unclassified probably benign
R4237:Trim28 UTSW 7 12,761,838 (GRCm39) missense possibly damaging 0.94
R4379:Trim28 UTSW 7 12,763,407 (GRCm39) missense probably damaging 0.99
R5206:Trim28 UTSW 7 12,759,275 (GRCm39) missense probably benign 0.01
R5754:Trim28 UTSW 7 12,763,036 (GRCm39) missense probably benign 0.12
R6788:Trim28 UTSW 7 12,759,273 (GRCm39) missense probably benign 0.00
R6864:Trim28 UTSW 7 12,763,385 (GRCm39) missense possibly damaging 0.85
R7089:Trim28 UTSW 7 12,758,833 (GRCm39) missense probably damaging 0.99
R7588:Trim28 UTSW 7 12,763,347 (GRCm39) missense probably damaging 1.00
R7677:Trim28 UTSW 7 12,762,040 (GRCm39) missense possibly damaging 0.92
R7861:Trim28 UTSW 7 12,762,339 (GRCm39) missense possibly damaging 0.67
R7878:Trim28 UTSW 7 12,758,289 (GRCm39) start gained probably benign
R8814:Trim28 UTSW 7 12,762,454 (GRCm39) missense probably damaging 0.96
R9226:Trim28 UTSW 7 12,763,490 (GRCm39) missense probably benign 0.25
R9231:Trim28 UTSW 7 12,763,490 (GRCm39) missense probably benign 0.25
R9232:Trim28 UTSW 7 12,763,490 (GRCm39) missense probably benign 0.25
R9233:Trim28 UTSW 7 12,763,490 (GRCm39) missense probably benign 0.25
R9235:Trim28 UTSW 7 12,763,490 (GRCm39) missense probably benign 0.25
R9236:Trim28 UTSW 7 12,763,490 (GRCm39) missense probably benign 0.25
R9518:Trim28 UTSW 7 12,764,445 (GRCm39) missense probably damaging 1.00
X0050:Trim28 UTSW 7 12,763,398 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- CCTTAGAGAGTGAAACCTGTCAC -3'
(R):5'- AGTGAGCAACTCCATTCCTCC -3'

Sequencing Primer
(F):5'- GTGAAACCTGTCACCCTAAGATTTTG -3'
(R):5'- GAGCAACTCCATTCCTCCCTAGG -3'
Posted On 2015-06-10