Incidental Mutation 'R3412:Tusc1'
ID 353158
Institutional Source Beutler Lab
Gene Symbol Tusc1
Ensembl Gene ENSMUSG00000054000
Gene Name tumor suppressor candidate 1
Synonyms 2200001D17Rik, TSG-9
MMRRC Submission 040630-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3412 (G1)
Quality Score 53
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: 97.2%
  • 20x: 94.8%
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 T C 13: 8,802,654 (GRCm39) F643S probably damaging Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Arhgef5 A G 6: 43,250,724 (GRCm39) I492V probably benign Het
Atp8b4 C A 2: 126,217,677 (GRCm39) W613L probably damaging Het
Ccdc162 T C 10: 41,415,545 (GRCm39) probably benign Het
Duxf4 G A 10: 58,072,175 (GRCm39) T13I possibly damaging Het
Esp24 T A 17: 39,349,207 (GRCm39) I11N possibly damaging Het
Exoc4 A G 6: 33,242,910 (GRCm39) E41G probably damaging Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Gria4 T A 9: 4,513,278 (GRCm39) D277V probably benign Het
Il18r1 A T 1: 40,530,227 (GRCm39) D318V probably damaging Het
Il4i1 T C 7: 44,486,082 (GRCm39) L22P probably damaging Het
Inpp5d C A 1: 87,595,779 (GRCm39) T175N possibly damaging Het
Krt90 T A 15: 101,469,028 (GRCm39) L171F probably damaging Het
Mthfd1 A G 12: 76,350,523 (GRCm39) probably null Het
Or51f5 T C 7: 102,423,962 (GRCm39) L77P possibly damaging Het
Or51q1 T C 7: 103,628,609 (GRCm39) L76P probably damaging Het
Or5an1c T C 19: 12,218,954 (GRCm39) I24V probably benign Het
Or6c1b A T 10: 129,273,176 (GRCm39) D165V probably damaging Het
Pla2g4f T C 2: 120,133,587 (GRCm39) S579G probably benign Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Prss43 G C 9: 110,658,532 (GRCm39) Q277H probably damaging Het
Ramp2 TTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 11: 101,137,371 (GRCm39) probably benign 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
Slc12a5 A G 2: 164,810,351 (GRCm39) D10G probably benign Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Sos1 T C 17: 80,714,146 (GRCm39) D1108G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Tacc2 A G 7: 130,336,724 (GRCm39) T2369A probably benign Het
Taok2 T C 7: 126,470,030 (GRCm39) I933V possibly damaging Het
Tex9 C A 9: 72,385,040 (GRCm39) Q265H possibly damaging Het
Trim69 T C 2: 122,009,125 (GRCm39) V395A probably benign Het
Ubr5 T C 15: 38,004,479 (GRCm39) probably benign Het
Utp25 A C 1: 192,810,810 (GRCm39) S64R possibly damaging 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
R3413: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'- ACTTCCGCGTGCTGAGAG -3'
(R):5'- GAGAACCGCAGCCTCTTCC -3'

Sequencing Primer
(F):5'- CGGAGTACTACGGAGGCG -3'
(R):5'- CAGCCTCTTCCGCCAGG -3'
Posted On 2015-10-16