Incidental Mutation 'R6004:Tusc3'
ID 478515
Institutional Source Beutler Lab
Gene Symbol Tusc3
Ensembl Gene ENSMUSG00000039530
Gene Name tumor suppressor candidate 3
Synonyms
MMRRC Submission 044182-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # R6004 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 39472999-39619367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 39538560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 200 (G200R)
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: G200R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126080
Gene: ENSMUSG00000039530
AA Change: G200R

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: G200R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209970
Predicted Effect probably benign
Transcript: ENSMUST00000210890
Predicted Effect probably benign
Transcript: ENSMUST00000211241
Meta Mutation Damage Score 0.9055 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.1%
Validation Efficiency 98% (55/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 C T 3: 97,082,997 (GRCm39) A336V probably benign Het
Adam5 T A 8: 25,271,685 (GRCm39) Y574F probably benign Het
Arl6 A T 16: 59,444,257 (GRCm39) W80R probably damaging Het
Bmal1 A T 7: 112,879,934 (GRCm39) D22V probably damaging Het
Cars2 A G 8: 11,597,743 (GRCm39) I111T probably damaging Het
Chrd T C 16: 20,553,987 (GRCm39) L317S possibly damaging Het
Cyp4a12b A G 4: 115,290,664 (GRCm39) D262G probably benign Het
Dcaf6 A G 1: 165,216,254 (GRCm39) S450P probably benign Het
Dnah3 T C 7: 119,685,520 (GRCm39) D164G probably benign Het
Gpx6 A C 13: 21,503,239 (GRCm39) T218P probably benign Het
Htr1f T C 16: 64,746,239 (GRCm39) N351S probably damaging Het
Idua A G 5: 108,828,510 (GRCm39) E241G probably benign Het
Ighv14-2 T A 12: 113,958,255 (GRCm39) Q62L probably damaging Het
Ighv1-65 C T 12: 115,496,056 (GRCm39) noncoding transcript Het
Inpp4a T C 1: 37,411,451 (GRCm39) S372P probably damaging Het
Itgax A T 7: 127,730,624 (GRCm39) H114L probably damaging Het
Lama2 A T 10: 27,111,781 (GRCm39) F746L probably benign Het
Lrrc37a C T 11: 103,393,362 (GRCm39) V688M possibly damaging Het
Ltbp2 A G 12: 84,922,923 (GRCm39) V28A probably benign Het
Mill2 A T 7: 18,590,463 (GRCm39) D166V probably benign Het
Mroh2a G A 1: 88,176,377 (GRCm39) C982Y probably damaging Het
Msh3 T A 13: 92,478,922 (GRCm39) probably null Het
Myh15 A T 16: 48,980,062 (GRCm39) M1395L probably benign Het
Npepps T C 11: 97,113,950 (GRCm39) E642G probably benign Het
Nrg4 T C 9: 55,166,667 (GRCm39) T68A possibly damaging Het
Or10ag60 T A 2: 87,438,253 (GRCm39) F174I probably damaging Het
Or4b1d T C 2: 89,969,343 (GRCm39) N47D probably benign Het
Or4f60 G T 2: 111,902,371 (GRCm39) L186I probably damaging Het
Or6c66b T A 10: 129,376,759 (GRCm39) Y118N probably benign Het
Or8b41 A G 9: 38,055,256 (GRCm39) K270R probably damaging Het
Or9g20 A T 2: 85,629,726 (GRCm39) V296E probably damaging Het
Otogl T A 10: 107,715,390 (GRCm39) I429F probably damaging Het
Pank4 G T 4: 155,061,678 (GRCm39) G532C probably damaging Het
Plce1 A G 19: 38,710,315 (GRCm39) T1150A probably damaging Het
Ppp2r2b T C 18: 43,192,224 (GRCm39) probably null Het
Prkrip1 A G 5: 136,226,636 (GRCm39) M68T probably damaging Het
Psme4 T A 11: 30,806,896 (GRCm39) probably benign Het
Raet1d T A 10: 22,247,293 (GRCm39) I123N probably damaging Het
Rp1 T G 1: 4,267,808 (GRCm39) T825P unknown Het
Rttn T C 18: 89,039,816 (GRCm39) I839T probably damaging Het
Sgo2b G A 8: 64,379,707 (GRCm39) Q1042* probably null Het
Skint11 A G 4: 114,088,925 (GRCm39) T240A probably benign Het
Speg A T 1: 75,392,247 (GRCm39) K1382* probably null Het
Srsf7 A T 17: 80,513,282 (GRCm39) D68E probably damaging Het
Stag3 A T 5: 138,287,468 (GRCm39) D131V probably damaging Het
Strip2 T A 6: 29,926,570 (GRCm39) C152S probably damaging Het
Timm44 G T 8: 4,317,747 (GRCm39) D191E probably benign Het
Tlnrd1 A G 7: 83,531,987 (GRCm39) V148A probably damaging Het
Trp63 T C 16: 25,582,146 (GRCm39) probably null Het
Vmn2r10 T G 5: 109,146,944 (GRCm39) N448T probably benign Het
Vmn2r50 G A 7: 9,783,986 (GRCm39) R163C probably benign Het
Vmn2r53 T C 7: 12,316,328 (GRCm39) H497R probably benign Het
Vps39 A G 2: 120,176,131 (GRCm39) V83A possibly damaging Het
Ylpm1 A T 12: 85,075,858 (GRCm39) N861I possibly damaging Het
Zfp712 A G 13: 67,189,769 (GRCm39) C253R probably damaging Het
Zfp930 A G 8: 69,680,556 (GRCm39) T84A 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
R5723:Tusc3 UTSW 8 39,538,651 (GRCm39) missense possibly damaging 0.75
R5753:Tusc3 UTSW 8 39,564,100 (GRCm39) missense probably damaging 1.00
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'- CTGGATGTGAAGAGAATACTGACTGTC -3'
(R):5'- TCACACTGAAGTAATAATCTGGCTC -3'

Sequencing Primer
(F):5'- TTCAGTGGCTAGCCCCAAC -3'
(R):5'- GCCCAACCAGTCTTGTTA -3'
Posted On 2017-06-26