Incidental Mutation 'R3413:Tusc1'
ID 267794
Institutional Source Beutler Lab
Gene Symbol Tusc1
Ensembl Gene ENSMUSG00000054000
Gene Name tumor suppressor candidate 1
Synonyms 2200001D17Rik, TSG-9
MMRRC Submission 040631-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3413 (G1)
Quality Score 124
Status Validated
Chromosome 4
Chromosomal Location 93222385-93223748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 93223173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 162 (R162L)
Ref Sequence ENSEMBL: ENSMUSP00000069652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066774]
AlphaFold Q673H1
Predicted Effect probably damaging
Transcript: ENSMUST00000066774
AA Change: R162L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069652
Gene: ENSMUSG00000054000
AA Change: R162L

DomainStartEndE-ValueType
low complexity region 5 52 N/A INTRINSIC
coiled coil region 66 110 N/A INTRINSIC
Meta Mutation Damage Score 0.3637 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,037,387 (GRCm39) probably benign Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Axin1 A G 17: 26,407,012 (GRCm39) H535R probably damaging Het
Ccnb3 T A X: 6,874,040 (GRCm39) E846D probably benign Het
Cdca7 G A 2: 72,315,631 (GRCm39) G365R probably damaging Het
Clvs2 T A 10: 33,498,967 (GRCm39) probably benign Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Ddx42 A G 11: 106,138,636 (GRCm39) T812A probably benign Het
Dnaaf6 T A X: 139,006,770 (GRCm39) N216K possibly damaging Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
Got1l1 A G 8: 27,689,864 (GRCm39) probably null Het
Hip1 T C 5: 135,451,026 (GRCm39) E451G probably damaging Het
Hs6st2 C T X: 50,770,332 (GRCm39) V50I possibly damaging Het
Ighv1-23 C T 12: 114,728,087 (GRCm39) V112I probably benign Het
Map1s A G 8: 71,365,163 (GRCm39) N107D probably damaging Het
Mmel1 T A 4: 154,974,043 (GRCm39) V361D probably damaging Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nup210 G T 6: 91,002,224 (GRCm39) Q755K probably benign Het
Or14j3 A G 17: 37,900,587 (GRCm39) V219A probably benign Het
Or51q1c A G 7: 103,653,039 (GRCm39) M186V probably damaging Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Sspo C T 6: 48,457,631 (GRCm39) R3178C probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syk A G 13: 52,785,775 (GRCm39) D327G probably benign Het
Tbc1d8b C T X: 138,614,140 (GRCm39) A391V probably benign Het
Tmed9 A G 13: 55,743,387 (GRCm39) E173G probably benign Het
Top1mt T C 15: 75,529,025 (GRCm39) N573S probably benign Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp92 C T X: 72,463,900 (GRCm39) probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably damaging Het
Other mutations in Tusc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4548:Tusc1 UTSW 4 93,223,540 (GRCm39) small insertion probably benign
FR4589:Tusc1 UTSW 4 93,223,544 (GRCm39) small insertion probably benign
FR4737:Tusc1 UTSW 4 93,223,550 (GRCm39) small insertion probably benign
R0131:Tusc1 UTSW 4 93,223,070 (GRCm39) missense probably benign 0.00
R2212:Tusc1 UTSW 4 93,223,173 (GRCm39) missense probably damaging 0.99
R3412:Tusc1 UTSW 4 93,223,173 (GRCm39) missense probably damaging 0.99
R3414:Tusc1 UTSW 4 93,223,173 (GRCm39) missense probably damaging 0.99
R9507:Tusc1 UTSW 4 93,223,245 (GRCm39) missense probably benign 0.01
RF021:Tusc1 UTSW 4 93,223,553 (GRCm39) small insertion probably benign
RF046:Tusc1 UTSW 4 93,223,539 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- GACTTCAAACTTCCGCGTG -3'
(R):5'- GAGAACCGCAGCCTCTTC -3'

Sequencing Primer
(F):5'- AAACTTCCGCGTGCTGAGAG -3'
(R):5'- CAGCCTCTTCCGCCAGG -3'
Posted On 2015-02-18