Incidental Mutation 'R3615:Tusc3'
ID 473055
Institutional Source Beutler Lab
Gene Symbol Tusc3
Ensembl Gene ENSMUSG00000039530
Gene Name tumor suppressor candidate 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.384) question?
Stock # R3615 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 39005845-39165114 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39164838 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 347 (K347N)
Ref Sequence ENSEMBL: ENSMUSP00000148134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167992] [ENSMUST00000169034] [ENSMUST00000209440] [ENSMUST00000211241]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000167992
AA Change: K347N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126080
Gene: ENSMUSG00000039530
AA Change: K347N

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
Pfam:Thioredoxin 64 185 3.7e-7 PFAM
Pfam:OST3_OST6 179 329 1.6e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169034
SMART Domains Protein: ENSMUSP00000129916
Gene: ENSMUSG00000039530

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
PDB:4M90|A 44 102 7e-38 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000209440
AA Change: K347N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000211241
Meta Mutation Damage Score 0.1578 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,971,864 N399S probably benign Het
A2ml1 T C 6: 128,558,294 T818A probably benign Het
Aasdh A G 5: 76,888,782 V304A probably benign Het
Angptl3 G A 4: 99,034,465 A248T probably benign Het
Ap2b1 T A 11: 83,324,565 C112S possibly damaging Het
Aqr A T 2: 114,136,887 I549N probably damaging Het
Barhl1 C T 2: 28,911,550 D161N possibly damaging Het
Col28a1 A G 6: 8,014,942 V821A probably damaging Het
Dclk2 G A 3: 86,920,035 P46S probably damaging Het
Dnah1 A G 14: 31,315,148 L247P possibly damaging Het
Dpysl2 T A 14: 66,834,370 H107L probably damaging Het
Dzip3 A G 16: 48,937,063 L869S probably damaging Het
Efs T C 14: 54,920,095 Y160C probably damaging Het
Enam A T 5: 88,504,447 N1197Y possibly damaging Het
Espl1 A G 15: 102,312,989 I944V probably damaging Het
Fam184b A G 5: 45,582,815 V343A possibly damaging Het
Fbxw26 A T 9: 109,743,760 Y105* probably null Het
Fiz1 A G 7: 5,008,172 L449P probably benign Het
Foxi2 T A 7: 135,410,451 C23S possibly damaging Het
Gdf2 G A 14: 33,944,957 R212Q probably damaging Het
Gm5105 C A 3: 138,049,688 A46S unknown Het
Gm597 T C 1: 28,776,575 D792G probably benign Het
Grik5 C T 7: 25,022,571 A581T probably benign Het
Gse1 C G 8: 120,572,742 probably benign Het
Hsp90aa1 T A 12: 110,695,680 M1L possibly damaging Het
Hsp90aa1 C A 12: 110,695,681 probably null Het
Krt25 A C 11: 99,317,298 V368G possibly damaging Het
Lacc1 A G 14: 77,033,287 V269A probably benign Het
Lamc1 T C 1: 153,251,150 K417E probably damaging Het
Miip A G 4: 147,865,914 M75T probably benign Het
Nlrp10 A G 7: 108,924,476 F599S probably benign Het
Nlrp12 T A 7: 3,240,575 M436L probably benign Het
Olfr142 T C 2: 90,252,409 E193G possibly damaging Het
Pafah1b1 G A 11: 74,690,232 S57F probably damaging Het
Pla2g2e G A 4: 138,880,374 V22I probably benign Het
Plekhd1 A G 12: 80,717,270 E202G probably damaging Het
Prss21 A G 17: 23,872,831 T258A probably benign Het
Prss34 A G 17: 25,298,846 E65G probably benign Het
Psap A G 10: 60,294,603 N149S probably benign Het
Ptprf C T 4: 118,237,883 A275T probably benign Het
Sem1 A G 6: 6,578,520 L12P probably damaging Het
Sf3b3 A G 8: 110,844,523 Y4H probably damaging Het
Sh3bp4 G T 1: 89,137,705 R7L probably damaging Het
Slc16a1 T A 3: 104,653,570 L397Q probably damaging Het
Smg5 A G 3: 88,336,451 S10G possibly damaging Het
Tas2r102 C T 6: 132,762,818 Q230* probably null Het
Tdo2 A G 3: 81,975,428 Y13H possibly damaging Het
Tmem231 C T 8: 111,918,313 R187H possibly damaging Het
Tmem30b A G 12: 73,545,579 M254T probably damaging Het
Trpm1 G A 7: 64,243,570 G1057R probably damaging Het
Usp36 C T 11: 118,276,759 probably null Het
Vash2 T C 1: 190,970,419 Y117C probably damaging Het
Vrk2 A G 11: 26,489,866 I235T possibly damaging Het
Wdr20 A G 12: 110,793,939 T420A probably benign Het
Other mutations in Tusc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Tusc3 APN 8 39164839 makesense probably null
IGL03247:Tusc3 APN 8 39130777 missense possibly damaging 0.64
R0070:Tusc3 UTSW 8 39063267 missense possibly damaging 0.49
R0594:Tusc3 UTSW 8 39096968 missense probably damaging 1.00
R1648:Tusc3 UTSW 8 39046567 nonsense probably null
R3616:Tusc3 UTSW 8 39164838 missense probably damaging 0.97
R5502:Tusc3 UTSW 8 39130793 nonsense probably null
R5723:Tusc3 UTSW 8 39071497 missense possibly damaging 0.75
R5753:Tusc3 UTSW 8 39096946 missense probably damaging 1.00
R6004:Tusc3 UTSW 8 39071406 missense probably damaging 0.99
R6030:Tusc3 UTSW 8 39071406 missense probably damaging 0.99
R6030:Tusc3 UTSW 8 39071406 missense probably damaging 0.99
R7162:Tusc3 UTSW 8 39126587 missense probably benign 0.00
R7483:Tusc3 UTSW 8 39071481 missense probably benign 0.01
R8309:Tusc3 UTSW 8 39164841 makesense probably null
R8968:Tusc3 UTSW 8 39130744 missense probably benign 0.14
R9006:Tusc3 UTSW 8 39071473 nonsense probably null
Predicted Primers
Posted On 2017-04-14