Incidental Mutation 'IGL02056:Atg101'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg101
Ensembl Gene ENSMUSG00000037204
Gene Nameautophagy related 101
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.273) question?
Stock #IGL02056
Quality Score
Chromosomal Location101284272-101290945 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101290337 bp
Amino Acid Change Serine to Proline at position 108 (S108P)
Ref Sequence ENSEMBL: ENSMUSP00000045474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048393] [ENSMUST00000071328] [ENSMUST00000191426] [ENSMUST00000229525] [ENSMUST00000230525]
Predicted Effect probably damaging
Transcript: ENSMUST00000048393
AA Change: S108P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045474
Gene: ENSMUSG00000037204
AA Change: S108P

Pfam:DUF1649 9 172 4.6e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071328
SMART Domains Protein: ENSMUSP00000071291
Gene: ENSMUSG00000075408

transmembrane domain 37 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071328
Predicted Effect probably benign
Transcript: ENSMUST00000191426
Predicted Effect probably benign
Transcript: ENSMUST00000229525
Predicted Effect probably damaging
Transcript: ENSMUST00000230525
AA Change: S108P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310050C09Rik T A 3: 92,868,893 Q161L probably benign Het
BB014433 A T 8: 15,042,435 C139* probably null Het
Cacna1s A G 1: 136,119,000 N1808S probably benign Het
Ccdc148 A G 2: 59,004,069 probably benign Het
Dnah7a T G 1: 53,504,342 N2223T probably benign Het
Fgl2 T A 5: 21,375,545 I295K probably damaging Het
Foxj3 T C 4: 119,585,757 I126T probably damaging Het
Gm4540 T A 3: 106,034,740 probably benign Het
Hps5 T G 7: 46,788,182 K156N probably damaging Het
Hsp90aa1 T C 12: 110,694,015 probably benign Het
Il12rb1 C T 8: 70,811,187 R131* probably null Het
Itgb2l T C 16: 96,427,689 E438G probably damaging Het
Nbeal2 A T 9: 110,627,324 L2379Q probably benign Het
Neurl4 T C 11: 69,905,790 V481A probably damaging Het
Nos1ap A G 1: 170,318,623 F454S possibly damaging Het
Pik3r5 G T 11: 68,490,855 G242C possibly damaging Het
Pkd1l3 A G 8: 109,631,378 N834S probably benign Het
Prkar2b A G 12: 31,975,910 probably benign Het
Pusl1 T C 4: 155,890,572 T191A probably benign Het
Rasal2 A G 1: 157,299,261 V51A probably damaging Het
Rsc1a1 T A 4: 141,685,485 I39F probably benign Het
Slc2a3 G A 6: 122,735,478 P269L probably damaging Het
Sntb1 C T 15: 55,648,039 G383D possibly damaging Het
Washc5 T C 15: 59,350,336 T547A possibly damaging Het
Zfr T C 15: 12,154,447 V572A probably damaging Het
Zmym6 T A 4: 127,103,414 N275K probably damaging Het
Other mutations in Atg101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Atg101 APN 15 101287095 missense possibly damaging 0.94
IGL03237:Atg101 APN 15 101287173 missense probably damaging 0.99
R1329:Atg101 UTSW 15 101290290 missense probably null 0.48
R2096:Atg101 UTSW 15 101290501 missense possibly damaging 0.85
R4622:Atg101 UTSW 15 101293332 unclassified probably benign
R6159:Atg101 UTSW 15 101290638 missense possibly damaging 0.52
R6414:Atg101 UTSW 15 101290460 missense probably benign 0.00
Posted On2014-05-07