Incidental Mutation 'R3414:Tusc1'
ID 266726
Institutional Source Beutler Lab
Gene Symbol Tusc1
Ensembl Gene ENSMUSG00000054000
Gene Name tumor suppressor candidate 1
Synonyms 2200001D17Rik, TSG-9
MMRRC Submission 040632-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3414 (G1)
Quality Score 145
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (42/43)
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
3425401B19Rik T A 14: 32,383,559 (GRCm39) Q802L probably benign Het
Atp8b4 C A 2: 126,217,677 (GRCm39) W613L probably damaging Het
AW554918 C A 18: 25,533,129 (GRCm39) T261K possibly damaging Het
Cttnbp2 A G 6: 18,389,204 (GRCm39) V1178A probably benign Het
Ddx18 T C 1: 121,489,878 (GRCm39) N177S probably benign Het
Dhx29 A G 13: 113,083,807 (GRCm39) K621E probably damaging Het
Eef2 G T 10: 81,013,692 (GRCm39) R66L probably damaging Het
Ergic2 A G 6: 148,108,179 (GRCm39) probably benign Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Hace1 T A 10: 45,524,771 (GRCm39) D234E possibly damaging Het
Ifi202b A G 1: 173,791,479 (GRCm39) S400P probably benign Het
Ighv1-23 C T 12: 114,728,087 (GRCm39) V112I probably benign Het
Il4i1 T C 7: 44,486,082 (GRCm39) L22P probably damaging Het
Il7 G T 3: 7,641,093 (GRCm39) Q67K probably benign Het
Inpp5d C A 1: 87,595,779 (GRCm39) T175N possibly damaging Het
Klk1b26 A G 7: 43,666,297 (GRCm39) I247V probably benign Het
Klrc1 A G 6: 129,654,726 (GRCm39) probably null Het
Lama1 T C 17: 68,044,598 (GRCm39) C166R probably damaging Het
Mrps5 A G 2: 127,438,832 (GRCm39) D219G probably benign Het
Mtus1 T C 8: 41,501,100 (GRCm39) T806A probably damaging Het
Naip2 G A 13: 100,325,771 (GRCm39) R46* probably null Het
Nos2 A T 11: 78,848,414 (GRCm39) Y1107F probably benign Het
Nsd3 T C 8: 26,190,047 (GRCm39) I135T probably damaging Het
Or13c7b C T 4: 43,821,258 (GRCm39) M34I probably benign Het
Or2d4 G T 7: 106,543,383 (GRCm39) S275* probably null Het
Or6c65 A G 10: 129,604,301 (GRCm39) H312R probably benign Het
Pla2g4f T C 2: 120,133,587 (GRCm39) S579G probably benign Het
Ppip5k1 A T 2: 121,158,142 (GRCm39) S252R probably damaging Het
Proc T A 18: 32,256,738 (GRCm39) T310S probably benign Het
Psg21 A T 7: 18,386,305 (GRCm39) L227Q probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sec24a T A 11: 51,620,285 (GRCm39) N456Y probably 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
Spata13 A G 14: 60,944,172 (GRCm39) T522A probably benign Het
Top1mt T C 15: 75,529,025 (GRCm39) N573S probably benign Het
Trim69 T C 2: 122,009,125 (GRCm39) V395A probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Unc13b T A 4: 43,234,658 (GRCm39) probably benign Het
Utp25 A C 1: 192,810,810 (GRCm39) S64R possibly damaging Het
Vmn1r2 T A 4: 3,172,696 (GRCm39) M205K probably damaging Het
Zfhx4 A G 3: 5,468,883 (GRCm39) K3014E 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
R3413: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'- AAACTTCCGCGTGCTGAG -3'
(R):5'- GAGAACCGCAGCCTCTTCC -3'

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