Incidental Mutation 'R3773:Tsg101'
ID 273434
Institutional Source Beutler Lab
Gene Symbol Tsg101
Ensembl Gene ENSMUSG00000014402
Gene Name tumor susceptibility gene 101
Synonyms CC2
MMRRC Submission 040749-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3773 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 46538697-46569717 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 46539363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 254 (*254W)
Ref Sequence ENSEMBL: ENSMUSP00000147748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014546] [ENSMUST00000156335] [ENSMUST00000209538] [ENSMUST00000211076]
AlphaFold Q61187
Predicted Effect probably null
Transcript: ENSMUST00000014546
AA Change: *392W
SMART Domains Protein: ENSMUSP00000014546
Gene: ENSMUSG00000014402
AA Change: *392W

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: ENSMUST00000146130
Predicted Effect probably benign
Transcript: ENSMUST00000156335
SMART Domains Protein: ENSMUSP00000120856
Gene: ENSMUSG00000014402

DomainStartEndE-ValueType
UBCc 51 206 5.96e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000209538
AA Change: *254W
Predicted Effect probably benign
Transcript: ENSMUST00000211076
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,532,046 (GRCm39) K899N probably benign Het
Acsbg3 T C 17: 57,183,262 (GRCm39) M1T probably null Het
Adgrv1 G A 13: 81,647,162 (GRCm39) S3126L probably damaging Het
Apba3 C A 10: 81,108,443 (GRCm39) probably null Het
Apobec4 G T 1: 152,632,556 (GRCm39) A195S probably benign Het
Asap3 C T 4: 135,954,886 (GRCm39) T72I probably benign Het
Cand2 T A 6: 115,762,178 (GRCm39) H201Q probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Chd1 A G 17: 17,594,913 (GRCm39) D16G probably damaging Het
Csgalnact2 T C 6: 118,103,180 (GRCm39) K19E probably benign Het
Cspg4b A G 13: 113,454,743 (GRCm39) E263G probably benign Het
Cyp17a1 T G 19: 46,658,162 (GRCm39) K250T probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dgcr8 T C 16: 18,074,639 (GRCm39) D712G probably damaging Het
Dsg2 T C 18: 20,724,919 (GRCm39) W442R probably damaging Het
Elavl2 C T 4: 91,152,325 (GRCm39) G131R probably damaging Het
Elf1 T C 14: 79,804,650 (GRCm39) V105A possibly damaging Het
Ercc6l2 A G 13: 63,989,264 (GRCm39) D270G probably damaging Het
Fmn1 T G 2: 113,412,463 (GRCm39) S996A probably damaging Het
Frmd4a A T 2: 4,595,433 (GRCm39) E109D probably damaging Het
Fry A T 5: 150,321,663 (GRCm39) R999S probably damaging Het
Gak G A 5: 108,730,538 (GRCm39) T956I probably benign Het
Gps2 T C 11: 69,806,927 (GRCm39) F21L probably damaging Het
Grhl3 C T 4: 135,283,158 (GRCm39) W303* probably null Het
Hmcn2 C T 2: 31,250,908 (GRCm39) T790M probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Matk T A 10: 81,094,131 (GRCm39) L21Q probably benign Het
Mthfr T C 4: 148,128,907 (GRCm39) V160A probably benign Het
Nhlrc4 T A 17: 26,162,367 (GRCm39) K127* probably null Het
Nsd1 G A 13: 55,394,486 (GRCm39) V696I probably benign Het
Nup210l T G 3: 90,027,201 (GRCm39) Y194* probably null Het
Or1j16 A T 2: 36,530,333 (GRCm39) Y94F probably benign Het
Or2h2 G T 17: 37,396,957 (GRCm39) Y33* probably null Het
Or7a41 G A 10: 78,871,014 (GRCm39) C128Y possibly damaging Het
Or9q2 T A 19: 13,772,568 (GRCm39) M136L probably benign Het
Pcdhb15 T A 18: 37,608,943 (GRCm39) V725D probably benign Het
Pes1 A G 11: 3,925,548 (GRCm39) Y221C probably damaging Het
Prkd3 T C 17: 79,266,535 (GRCm39) I603V possibly damaging Het
Ptpn13 A G 5: 103,624,987 (GRCm39) E97G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,735,978 (GRCm39) T152A possibly damaging Het
Rims1 T C 1: 22,492,034 (GRCm39) D842G probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf26rt C T 6: 76,473,942 (GRCm39) V225I probably benign Het
Rngtt T C 4: 33,330,889 (GRCm39) I164T probably damaging Het
Scn9a T C 2: 66,313,992 (GRCm39) N1909D probably benign Het
Shisal1 A T 15: 84,290,886 (GRCm39) Y120* probably null Het
Ska3 C T 14: 58,047,534 (GRCm39) V334I probably benign Het
Slco1a8 T C 6: 141,918,061 (GRCm39) K605R probably benign Het
Srebf2 A G 15: 82,066,309 (GRCm39) K579R probably benign Het
Stxbp5 G A 10: 9,644,671 (GRCm39) T960I probably damaging Het
Suco A T 1: 161,671,565 (GRCm39) probably null Het
Tecta T C 9: 42,242,292 (GRCm39) T2094A probably damaging Het
Tenm4 A T 7: 96,344,087 (GRCm39) R227W probably damaging Het
Tmem131l A G 3: 83,805,893 (GRCm39) S1517P probably damaging Het
Trio A G 15: 27,748,177 (GRCm39) S2492P probably damaging Het
Ttn T C 2: 76,601,711 (GRCm39) T16872A probably benign Het
Ugt2b38 A G 5: 87,571,954 (GRCm39) V26A probably damaging Het
Upb1 T A 10: 75,275,672 (GRCm39) probably null Het
Vmn1r32 T A 6: 66,530,351 (GRCm39) I142F probably benign Het
Vmn1r60 C A 7: 5,547,710 (GRCm39) C130F possibly damaging Het
Vmn2r101 A G 17: 19,809,919 (GRCm39) D235G probably benign Het
Wnk1 C T 6: 119,979,241 (GRCm39) R282Q possibly damaging Het
Xrn2 T C 2: 146,903,207 (GRCm39) V765A probably benign Het
Zbed4 T C 15: 88,665,050 (GRCm39) S373P probably benign Het
Zfp251 A G 15: 76,737,836 (GRCm39) I414T possibly damaging Het
Zfp423 A T 8: 88,507,140 (GRCm39) L1047Q probably benign Het
Zfp426 A T 9: 20,384,413 (GRCm39) probably null Het
Zfp61 T C 7: 23,995,406 (GRCm39) M1V probably null Het
Other mutations in Tsg101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Tsg101 APN 7 46,558,673 (GRCm39) missense probably damaging 1.00
IGL01505:Tsg101 APN 7 46,558,808 (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
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
Predicted Primers PCR Primer
(F):5'- TTATTTAGCCCAGTCAGTCCCAG -3'
(R):5'- CAATTGGTTTCAAAGGTTGCTG -3'

Sequencing Primer
(F):5'- CAGCACAGACGCTTACAGAGG -3'
(R):5'- AGGTTGCTGTATATATTTAGGATTGC -3'
Posted On 2015-03-25