Incidental Mutation 'R4108:Tsg101'
ID 321470
Institutional Source Beutler Lab
Gene Symbol Tsg101
Ensembl Gene ENSMUSG00000014402
Gene Name tumor susceptibility gene 101
Synonyms CC2
MMRRC Submission 040987-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4108 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 46538697-46569717 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46542242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 99 (D99V)
Ref Sequence ENSEMBL: ENSMUSP00000147748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014546] [ENSMUST00000156335] [ENSMUST00000209538] [ENSMUST00000211076]
AlphaFold Q61187
Predicted Effect probably damaging
Transcript: ENSMUST00000014546
AA Change: D237V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014546
Gene: ENSMUSG00000014402
AA Change: D237V

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 damaging
Transcript: ENSMUST00000156335
AA Change: D143V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120856
Gene: ENSMUSG00000014402
AA Change: D143V

DomainStartEndE-ValueType
UBCc 51 206 5.96e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209538
AA Change: D99V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211076
Meta Mutation Damage Score 0.6325 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (65/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,061,796 (GRCm39) Y82C probably damaging Het
4930579F01Rik T C 3: 137,889,431 (GRCm39) N62S probably benign Het
Acad10 G T 5: 121,769,527 (GRCm39) S643Y probably damaging Het
Acox3 T C 5: 35,758,896 (GRCm39) F369S probably damaging Het
Arhgap31 A G 16: 38,422,788 (GRCm39) S1093P probably damaging Het
Atp4b A G 8: 13,446,640 (GRCm39) probably null Het
Bmper G A 9: 23,136,059 (GRCm39) V47I probably benign Het
Caskin1 C A 17: 24,721,121 (GRCm39) T487K probably benign Het
Ccr7 C T 11: 99,036,204 (GRCm39) M239I probably damaging Het
Cdh23 C A 10: 60,246,601 (GRCm39) V944L possibly damaging Het
Cenpf A G 1: 189,416,065 (GRCm39) S87P probably damaging Het
Chd9 A T 8: 91,737,304 (GRCm39) D1461V probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyb5r2 A T 7: 107,353,136 (GRCm39) M102K probably damaging Het
Cyp2j7 T C 4: 96,087,687 (GRCm39) T408A possibly damaging Het
Dnajb2 G T 1: 75,213,543 (GRCm39) E6* probably null Het
Dtx4 G A 19: 12,478,487 (GRCm39) A32V probably damaging Het
Eml5 T C 12: 98,807,807 (GRCm39) probably null Het
Eml6 A C 11: 29,755,136 (GRCm39) S880A probably damaging Het
Fsd2 C T 7: 81,194,715 (GRCm39) V483I probably benign Het
Inf2 T C 12: 112,574,015 (GRCm39) L773P unknown Het
Kif26b A G 1: 178,744,530 (GRCm39) Q1095R possibly damaging Het
Leprotl1 A G 8: 34,607,913 (GRCm39) probably null Het
Lrp1b A G 2: 40,555,099 (GRCm39) V340A unknown Het
Myh1 T C 11: 67,102,403 (GRCm39) V898A probably benign Het
Ncstn G T 1: 171,900,111 (GRCm39) N254K probably damaging Het
Nfatc1 T A 18: 80,741,583 (GRCm39) H139L possibly damaging Het
Nfe2l1 C T 11: 96,710,220 (GRCm39) probably null Het
Nfya G T 17: 48,699,912 (GRCm39) Y37* probably null Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or2b6 A G 13: 21,822,952 (GRCm39) V247A probably damaging Het
Or7g26 T A 9: 19,230,608 (GRCm39) Y265* probably null Het
Otogl C T 10: 107,607,105 (GRCm39) V2093I probably benign Het
Phc2 A G 4: 128,601,776 (GRCm39) Y77C probably damaging Het
Pik3c2g C A 6: 139,676,096 (GRCm39) A80E probably benign Het
Plxnd1 G T 6: 115,936,276 (GRCm39) H1675N probably damaging Het
Pou4f3 A G 18: 42,528,987 (GRCm39) K310R probably damaging Het
Ppp1r12c T C 7: 4,489,565 (GRCm39) D199G probably damaging Het
Prss22 A G 17: 24,212,847 (GRCm39) Y297H probably benign Het
Psmb7 T A 2: 38,532,211 (GRCm39) H78L probably damaging Het
Rad51ap2 T C 12: 11,508,396 (GRCm39) C773R probably damaging Het
Rpl12 A T 2: 32,851,836 (GRCm39) N8Y probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Sbf1 T C 15: 89,172,788 (GRCm39) probably benign Het
Scn3a A G 2: 65,325,379 (GRCm39) I1046T probably benign Het
Setd1a G A 7: 127,398,374 (GRCm39) probably benign Het
Slc15a2 G T 16: 36,602,755 (GRCm39) probably benign Het
Slc34a2 G A 5: 53,221,351 (GRCm39) V266I possibly damaging Het
Smtn G A 11: 3,476,449 (GRCm39) T144I probably benign Het
Spta1 A G 1: 174,002,122 (GRCm39) N84S probably benign Het
Sult6b1 G T 17: 79,214,291 (GRCm39) T6N probably damaging Het
Supt16 T C 14: 52,400,188 (GRCm39) E985G probably damaging Het
Tbcd T A 11: 121,384,637 (GRCm39) H39Q probably benign Het
Tpo G A 12: 30,142,585 (GRCm39) P713L probably damaging Het
Ttn G C 2: 76,581,215 (GRCm39) A23226G probably damaging Het
Ttn C T 2: 76,608,809 (GRCm39) V15990I probably benign Het
Ubald1 C A 16: 4,693,731 (GRCm39) M61I probably benign Het
Ush1c C T 7: 45,847,869 (GRCm39) D465N probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vps54 A G 11: 21,262,877 (GRCm39) I655V probably benign 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
R3773:Tsg101 UTSW 7 46,539,363 (GRCm39) makesense probably null
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'- CCCACGATGTTTTCAGTGC -3'
(R):5'- TCCGCTTATGGTATGTGCTC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CTAGCGTTCTGTAGAAGGATTGACAC -3'
Posted On 2015-06-12