Incidental Mutation 'IGL01505:Tsg101'
ID 89025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsg101
Ensembl Gene ENSMUSG00000014402
Gene Name tumor susceptibility gene 101
Synonyms CC2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01505
Quality Score
Status
Chromosome 7
Chromosomal Location 46538697-46569717 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46558808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 46 (Y46H)
Ref Sequence ENSEMBL: ENSMUSP00000121314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014546] [ENSMUST00000143413] [ENSMUST00000156335] [ENSMUST00000209538] [ENSMUST00000210664] [ENSMUST00000211076]
AlphaFold Q61187
Predicted Effect probably damaging
Transcript: ENSMUST00000014546
AA Change: Y68H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014546
Gene: ENSMUSG00000014402
AA Change: Y68H

DomainStartEndE-ValueType
UBCc 22 177 5.96e-4 SMART
PDB:3IV1|H 229 305 1e-43 PDB
Pfam:Vps23_core 317 380 2.5e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140693
Predicted Effect probably damaging
Transcript: ENSMUST00000143413
AA Change: Y46H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121314
Gene: ENSMUSG00000014402
AA Change: Y46H

DomainStartEndE-ValueType
UBCc 17 138 1.05e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156335
SMART Domains Protein: ENSMUSP00000120856
Gene: ENSMUSG00000014402

DomainStartEndE-ValueType
UBCc 51 206 5.96e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209538
Predicted Effect probably benign
Transcript: ENSMUST00000210664
Predicted Effect probably benign
Transcript: ENSMUST00000211076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211595
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 belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced growth, fail to form mesoderm, accumulate p53 protein and die by embryonic day 6.5. Homozygotes for a mammary gland-specific knockout show impaired mammogenesis and are unable to nurse their pups. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 69,080,418 (GRCm39) probably null Het
A2m A G 6: 121,653,906 (GRCm39) N1413S possibly damaging Het
Aadacl4fm4 C T 4: 144,401,188 (GRCm39) V99M probably damaging Het
Arhgap45 A T 10: 79,862,376 (GRCm39) N488Y probably benign Het
Arid4a G A 12: 71,083,889 (GRCm39) D94N probably damaging Het
Atp7a A G X: 105,153,436 (GRCm39) K1114E probably damaging Het
Atp8a2 C T 14: 60,265,512 (GRCm39) V275M probably benign Het
Ceacam12 T C 7: 17,801,357 (GRCm39) V112A probably damaging Het
Cep295 T A 9: 15,229,345 (GRCm39) D2256V probably benign Het
Chid1 A T 7: 141,093,807 (GRCm39) probably null Het
Clcn5 A T X: 7,036,678 (GRCm39) L268* probably null Het
Cldn17 A G 16: 88,303,591 (GRCm39) I46T possibly damaging Het
Cnot1 A T 8: 96,455,346 (GRCm39) I2025N probably damaging Het
Cntn5 C T 9: 9,706,092 (GRCm39) V574M probably damaging Het
Col14a1 T A 15: 55,318,619 (GRCm39) C1373S unknown Het
Col9a1 A G 1: 24,224,205 (GRCm39) N129S unknown Het
Cp C T 3: 20,031,356 (GRCm39) P598S possibly damaging Het
Cpb1 G A 3: 20,320,410 (GRCm39) R150C probably damaging Het
Cyp2j7 T A 4: 96,115,917 (GRCm39) probably null Het
Dnajb7 T C 15: 81,291,692 (GRCm39) E215G possibly damaging Het
Dock1 G A 7: 134,760,239 (GRCm39) R1634Q possibly damaging Het
Dop1b A G 16: 93,554,004 (GRCm39) T313A possibly damaging Het
Fgd2 T A 17: 29,585,971 (GRCm39) V185E probably damaging Het
Flnb T C 14: 7,902,003 (GRCm38) probably null Het
Fzd7 A G 1: 59,523,062 (GRCm39) E315G probably benign Het
Gjd3 T A 11: 102,691,552 (GRCm39) K150N probably benign Het
Gpihbp1 C T 15: 75,469,977 (GRCm39) probably benign Het
Gpr160 T C 3: 30,950,002 (GRCm39) S25P possibly damaging Het
Grsf1 G A 5: 88,820,608 (GRCm39) R58* probably null Het
Ifit1 T A 19: 34,625,854 (GRCm39) M330K probably benign Het
Igkv1-122 T C 6: 67,994,178 (GRCm39) V22A probably benign Het
Ikbke A T 1: 131,183,048 (GRCm39) D692E probably benign Het
Il15ra T C 2: 11,737,956 (GRCm39) probably benign Het
Il18rap A G 1: 40,576,244 (GRCm39) I252V probably damaging Het
Klra10 C T 6: 130,249,680 (GRCm39) G202R probably damaging Het
Kpna7 A G 5: 144,929,661 (GRCm39) V388A probably damaging Het
L2hgdh A G 12: 69,768,175 (GRCm39) S108P probably damaging Het
Msto1 G A 3: 88,818,050 (GRCm39) T388M probably benign Het
Naip1 T C 13: 100,562,441 (GRCm39) E908G probably damaging Het
Neto1 C A 18: 86,491,814 (GRCm39) D238E possibly damaging Het
Nlrp5 T A 7: 23,117,159 (GRCm39) D294E probably benign Het
Nr3c2 T C 8: 77,635,816 (GRCm39) S306P probably damaging Het
Or8b41 T A 9: 38,055,167 (GRCm39) C240* probably null Het
Pard3 T A 8: 128,050,544 (GRCm39) L202H probably damaging Het
Pdzd2 T C 15: 12,458,293 (GRCm39) N190S probably damaging Het
Pi4ka T C 16: 17,127,222 (GRCm39) D1077G probably benign Het
Pmfbp1 A C 8: 110,240,543 (GRCm39) L208F probably damaging Het
Pms1 C T 1: 53,246,130 (GRCm39) D470N probably benign Het
Prdm10 T C 9: 31,238,578 (GRCm39) F108L probably benign Het
Rab11fip1 A T 8: 27,644,804 (GRCm39) M327K possibly damaging Het
Slc37a4 T A 9: 44,311,261 (GRCm39) L184Q probably damaging Het
Smdt1 T C 15: 82,232,094 (GRCm39) probably benign Het
Smg6 A G 11: 75,047,117 (GRCm39) Y1270C probably damaging Het
Speer4f2 T A 5: 17,581,565 (GRCm39) V169E possibly damaging Het
Stpg2 C T 3: 139,023,214 (GRCm39) A410V probably benign Het
Tnrc6b T A 15: 80,764,164 (GRCm39) D555E probably benign Het
Vmn2r111 G A 17: 22,767,553 (GRCm39) S648L probably benign Het
Vmn2r73 T A 7: 85,507,267 (GRCm39) R682* probably null Het
Xkr5 A T 8: 18,983,514 (GRCm39) I676N probably damaging Het
Other mutations in Tsg101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Tsg101 APN 7 46,558,673 (GRCm39) missense probably damaging 1.00
R1183:Tsg101 UTSW 7 46,539,372 (GRCm39) missense probably benign 0.23
R1558:Tsg101 UTSW 7 46,539,437 (GRCm39) missense probably damaging 1.00
R1560:Tsg101 UTSW 7 46,542,208 (GRCm39) splice site probably null
R1779:Tsg101 UTSW 7 46,556,835 (GRCm39) missense probably benign 0.00
R2015:Tsg101 UTSW 7 46,558,652 (GRCm39) critical splice donor site probably null
R2329:Tsg101 UTSW 7 46,540,868 (GRCm39) missense probably damaging 1.00
R3773:Tsg101 UTSW 7 46,539,363 (GRCm39) makesense probably null
R4108:Tsg101 UTSW 7 46,542,242 (GRCm39) missense probably damaging 1.00
R4618:Tsg101 UTSW 7 46,542,257 (GRCm39) missense possibly damaging 0.76
R5162:Tsg101 UTSW 7 46,542,174 (GRCm39) missense probably damaging 1.00
R5380:Tsg101 UTSW 7 46,540,868 (GRCm39) missense probably damaging 1.00
R5537:Tsg101 UTSW 7 46,540,876 (GRCm39) missense probably benign 0.02
R6939:Tsg101 UTSW 7 46,556,847 (GRCm39) missense probably benign 0.00
R7555:Tsg101 UTSW 7 46,563,159 (GRCm39) missense probably damaging 1.00
R7752:Tsg101 UTSW 7 46,563,183 (GRCm39) missense probably benign 0.01
R7901:Tsg101 UTSW 7 46,563,183 (GRCm39) missense probably benign 0.01
R7951:Tsg101 UTSW 7 46,540,891 (GRCm39) missense probably benign 0.38
R8052:Tsg101 UTSW 7 46,542,257 (GRCm39) missense probably damaging 0.96
R8329:Tsg101 UTSW 7 46,558,808 (GRCm39) missense probably damaging 1.00
R8524:Tsg101 UTSW 7 46,542,115 (GRCm39) missense probably benign 0.01
R9455:Tsg101 UTSW 7 46,563,151 (GRCm39) missense probably damaging 1.00
R9467:Tsg101 UTSW 7 46,558,772 (GRCm39) missense probably benign 0.10
R9523:Tsg101 UTSW 7 46,542,308 (GRCm39) missense possibly damaging 0.69
X0063:Tsg101 UTSW 7 46,539,379 (GRCm39) missense probably damaging 1.00
Z1177:Tsg101 UTSW 7 46,540,684 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03