Incidental Mutation 'IGL02056:Atg101'
ID185240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg101
Ensembl Gene ENSMUSG00000037204
Gene Nameautophagy related 101
Synonyms9430023L20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.273) question?
Stock #IGL02056
Quality Score
Status
Chromosome15
Chromosomal Location101284272-101290945 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101290337 bp
ZygosityHeterozygous
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

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

DomainStartEndE-ValueType
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