Incidental Mutation 'R5723:Tusc3'
ID 452332
Institutional Source Beutler Lab
Gene Symbol Tusc3
Ensembl Gene ENSMUSG00000039530
Gene Name tumor suppressor candidate 3
Synonyms
MMRRC Submission 043341-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # R5723 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 39472999-39619367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 39538651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 230 (G230D)
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 possibly damaging
Transcript: ENSMUST00000167992
AA Change: G230D

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126080
Gene: ENSMUSG00000039530
AA Change: G230D

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 possibly damaging
Transcript: ENSMUST00000209440
AA Change: G230D

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209970
Predicted Effect probably benign
Transcript: ENSMUST00000210890
Predicted Effect probably benign
Transcript: ENSMUST00000211241
Meta Mutation Damage Score 0.1788 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (57/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,844,445 (GRCm39) D862G possibly damaging Het
Abcg2 C T 6: 58,655,336 (GRCm39) Q109* probably null Het
Acbd7 A G 2: 3,341,455 (GRCm39) Y33C probably damaging Het
Actl7a A G 4: 56,744,310 (GRCm39) D279G probably damaging Het
Akr1c18 A T 13: 4,194,328 (GRCm39) Y110* probably null Het
Akt1 T C 12: 112,623,704 (GRCm39) K276E probably damaging Het
Bcas2 A G 3: 103,084,608 (GRCm39) probably benign Het
C9 T A 15: 6,516,297 (GRCm39) Y367N probably damaging Het
Cd163 A G 6: 124,296,022 (GRCm39) T789A probably benign Het
Cers6 T A 2: 68,938,789 (GRCm39) S344T probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Crisp3 A C 17: 40,546,804 (GRCm39) V38G probably damaging Het
Cyp2b23 A G 7: 26,380,821 (GRCm39) F135L probably benign Het
Cyrib A T 15: 63,828,447 (GRCm39) probably null Het
Ddr2 A T 1: 169,816,089 (GRCm39) C539* probably null Het
Efna5 T A 17: 62,914,458 (GRCm39) D189V probably damaging Het
Endov G T 11: 119,390,675 (GRCm39) V70F probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem3 A T 8: 81,340,026 (GRCm39) H773L probably benign Het
Gm43302 T A 5: 105,365,352 (GRCm39) Q552L possibly damaging Het
Gramd1a A T 7: 30,833,908 (GRCm39) W506R probably damaging Het
Hmcn1 C T 1: 150,570,600 (GRCm39) V2188I possibly damaging Het
Ifit1bl2 A G 19: 34,597,458 (GRCm39) F53L probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif5a GGGTTGGT GGGT 10: 127,066,898 (GRCm39) probably null Het
Krt16 A G 11: 100,139,272 (GRCm39) Y149H probably damaging Het
Krtap5-2 A T 7: 141,728,742 (GRCm39) C313S unknown Het
Mreg A G 1: 72,201,527 (GRCm39) I155T probably damaging Het
Nans T C 4: 46,499,083 (GRCm39) F130S probably benign Het
Nox4 T C 7: 86,954,181 (GRCm39) probably benign Het
Or3a1d C A 11: 74,237,954 (GRCm39) W32L possibly damaging Het
Or52ad1 A T 7: 102,995,826 (GRCm39) M103K possibly damaging Het
Or56a3 C A 7: 104,740,309 (GRCm39) C179F probably damaging Het
Or5k15 A T 16: 58,709,976 (GRCm39) Y202* probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pkd1 A G 17: 24,784,497 (GRCm39) T348A probably benign Het
Poteg T C 8: 27,940,020 (GRCm39) probably null Het
Prom1 T G 5: 44,172,236 (GRCm39) N585T probably benign Het
Rfc1 T C 5: 65,434,769 (GRCm39) S666G probably null Het
Rilp A G 11: 75,403,687 (GRCm39) probably benign Het
Serpina3i A G 12: 104,231,759 (GRCm39) E132G probably benign Het
Serpina3m T C 12: 104,360,170 (GRCm39) V414A probably damaging Het
Sfrp4 T C 13: 19,807,868 (GRCm39) F89S probably damaging Het
Stat5a A G 11: 100,772,900 (GRCm39) H692R probably benign Het
Tex29 A T 8: 11,904,279 (GRCm39) probably benign Het
Tmc5 T A 7: 118,271,416 (GRCm39) F910I probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Upb1 A T 10: 75,264,105 (GRCm39) I184F probably damaging Het
Vamp4 T C 1: 162,401,932 (GRCm39) F5L possibly damaging Het
Zfp583 C A 7: 6,326,674 (GRCm39) Q68H probably damaging Het
Zfp831 A C 2: 174,487,200 (GRCm39) H625P probably benign Het
Zfp941 G A 7: 140,392,763 (GRCm39) probably benign Het
Other mutations in Tusc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Tusc3 APN 8 39,617,880 (GRCm39) makesense probably null
IGL03247:Tusc3 APN 8 39,597,931 (GRCm39) missense possibly damaging 0.64
R0070:Tusc3 UTSW 8 39,530,421 (GRCm39) missense possibly damaging 0.49
R0594:Tusc3 UTSW 8 39,564,122 (GRCm39) missense probably damaging 1.00
R1648:Tusc3 UTSW 8 39,513,721 (GRCm39) nonsense probably null
R3615:Tusc3 UTSW 8 39,617,879 (GRCm39) missense probably damaging 0.97
R3616:Tusc3 UTSW 8 39,617,879 (GRCm39) missense probably damaging 0.97
R5502:Tusc3 UTSW 8 39,597,947 (GRCm39) nonsense probably null
R5753:Tusc3 UTSW 8 39,564,100 (GRCm39) missense probably damaging 1.00
R6004:Tusc3 UTSW 8 39,538,560 (GRCm39) missense probably damaging 0.99
R6030:Tusc3 UTSW 8 39,538,560 (GRCm39) missense probably damaging 0.99
R6030:Tusc3 UTSW 8 39,538,560 (GRCm39) missense probably damaging 0.99
R7162:Tusc3 UTSW 8 39,593,741 (GRCm39) missense probably benign 0.00
R7483:Tusc3 UTSW 8 39,538,635 (GRCm39) missense probably benign 0.01
R8309:Tusc3 UTSW 8 39,617,882 (GRCm39) makesense probably null
R8968:Tusc3 UTSW 8 39,597,898 (GRCm39) missense probably benign 0.14
R9006:Tusc3 UTSW 8 39,538,627 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGATGTGAAGAGAATACTGACTGTC -3'
(R):5'- TGGAATGTGTCACATACTAGAGTC -3'

Sequencing Primer
(F):5'- ACACGCATTGTATGTAGTTCTCAGG -3'
(R):5'- GAAGAAATCATACCCATAGCTTAAGC -3'
Posted On 2017-01-03