Incidental Mutation 'IGL01785:Tusc5'
ID278865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tusc5
Ensembl Gene ENSMUSG00000046275
Gene Nametumor suppressor candidate 5
SynonymsC130069F04Rik, LOST1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL01785
Quality Score
Status
Chromosome11
Chromosomal Location76679808-76698664 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 76680466 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 103 (V103I)
Ref Sequence ENSEMBL: ENSMUSP00000061634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062024]
Predicted Effect probably benign
Transcript: ENSMUST00000062024
AA Change: V103I

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000061634
Gene: ENSMUSG00000046275
AA Change: V103I

DomainStartEndE-ValueType
Pfam:Dispanin 83 165 3.7e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display abnormal adipocyte glucose uptake and show increased body weight, elevated blood insulin and glucose levels, and insulin resistance when fed a high-fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,915,058 Y309* probably null Het
Abhd18 G A 3: 40,905,904 R42Q probably damaging Het
Ano3 T A 2: 110,682,715 Q645L probably damaging Het
Clasp1 T A 1: 118,497,736 L272Q possibly damaging Het
Clec1b A G 6: 129,403,562 D115G probably damaging Het
Clec2e A T 6: 129,093,401 probably benign Het
Corin T C 5: 72,339,876 N532S probably damaging Het
Csn1s2b A G 5: 87,809,913 K2R possibly damaging Het
Mcm8 A G 2: 132,827,948 D314G probably benign Het
Mga T A 2: 119,902,912 D80E probably damaging Het
Msh4 A G 3: 153,857,507 L744P probably damaging Het
Myof A T 19: 37,980,423 L348* probably null Het
Olfr1348 T C 7: 6,501,900 I109V probably benign Het
Olfr530 T A 7: 140,373,125 M162L probably benign Het
Otud3 T C 4: 138,896,897 D278G probably benign Het
Pdpr C A 8: 111,129,656 H670Q probably damaging Het
Phf21b C A 15: 84,808,061 probably benign Het
Polr3a G A 14: 24,484,120 Q106* probably null Het
Ptprm G T 17: 66,685,623 N1366K probably damaging Het
Slc10a5 G A 3: 10,335,199 P134S probably benign Het
Slc30a9 A G 5: 67,346,238 probably benign Het
Stat6 T A 10: 127,657,227 V576D probably damaging Het
Tmem132d T C 5: 127,984,315 I408V probably benign Het
Tmem50a T C 4: 134,898,447 E153G probably damaging Het
Tmod4 A G 3: 95,125,618 T22A probably benign Het
Tmprss7 C T 16: 45,680,634 G268D probably damaging Het
Tor1a A G 2: 30,963,703 probably null Het
Ttc29 T C 8: 78,282,341 L280P probably damaging Het
Usp20 A G 2: 31,017,163 E594G probably benign Het
Vmn1r31 A C 6: 58,472,724 M3R possibly damaging Het
Other mutations in Tusc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01786:Tusc5 APN 11 76680466 missense probably benign 0.07
R5184:Tusc5 UTSW 11 76680308 missense probably damaging 1.00
R5217:Tusc5 UTSW 11 76694276 missense possibly damaging 0.57
R6377:Tusc5 UTSW 11 76680529 missense probably damaging 1.00
R6703:Tusc5 UTSW 11 76694162 critical splice acceptor site probably null
Posted On2015-04-16