Incidental Mutation 'IGL01106:Atg13'
ID50526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg13
Ensembl Gene ENSMUSG00000027244
Gene Nameautophagy related 13
SynonymsD2Ertd391e, 1110053A20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock #IGL01106
Quality Score
Status
Chromosome2
Chromosomal Location91674618-91710576 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91695952 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 12 (D12G)
Ref Sequence ENSEMBL: ENSMUSP00000076081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028678] [ENSMUST00000076803]
Predicted Effect probably damaging
Transcript: ENSMUST00000028678
AA Change: D12G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244
AA Change: D12G

DomainStartEndE-ValueType
Pfam:ATG13 77 195 1.5e-10 PFAM
low complexity region 252 269 N/A INTRINSIC
low complexity region 423 442 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000076803
AA Change: D12G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244
AA Change: D12G

DomainStartEndE-ValueType
Pfam:ATG13 17 195 1.1e-35 PFAM
low complexity region 386 405 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136412
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cmya5 A G 13: 93,084,612 L3163P probably damaging Het
Cntn2 A G 1: 132,521,884 probably benign Het
Ddx23 C T 15: 98,650,940 R327Q probably benign Het
Dlec1 G A 9: 119,102,785 E91K probably benign Het
Fam13c T C 10: 70,448,816 probably null Het
Fbn1 T C 2: 125,351,706 T1398A possibly damaging Het
Frem1 T C 4: 82,922,257 T1793A probably benign Het
Gprc5b T C 7: 118,983,861 K262E probably benign Het
Hadh A T 3: 131,240,970 Y226N possibly damaging Het
Herc1 T A 9: 66,476,438 probably benign Het
Ikbke A G 1: 131,260,055 probably benign Het
Iqcg T A 16: 33,035,600 I202L possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Kcna3 A G 3: 107,037,864 E481G possibly damaging Het
Kdm1a A G 4: 136,572,328 probably benign Het
Klhdc8a A T 1: 132,304,700 S321C probably benign Het
Kntc1 A G 5: 123,762,603 K255E probably benign Het
Lhfpl4 T A 6: 113,193,863 T121S probably benign Het
Lsm11 G A 11: 45,933,663 Q346* probably null Het
Mcoln3 A G 3: 146,137,264 T368A probably benign Het
Nlrp4g A T 9: 124,350,452 noncoding transcript Het
Nol8 A G 13: 49,654,481 I58V possibly damaging Het
Olfr1040 C T 2: 86,146,216 V173M probably benign Het
Phactr4 A G 4: 132,370,805 F384S probably benign Het
Prkg1 T A 19: 30,585,278 I509L probably benign Het
Rims1 T A 1: 22,379,447 D1019V probably damaging Het
Sclt1 T C 3: 41,675,319 probably benign Het
Sntg2 T A 12: 30,257,988 K233* probably null Het
Syt5 T C 7: 4,541,157 T295A probably damaging Het
Other mutations in Atg13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00550:Atg13 APN 2 91692459 missense probably damaging 0.99
IGL00688:Atg13 APN 2 91686497 splice site probably benign
IGL01309:Atg13 APN 2 91678831 missense possibly damaging 0.80
IGL03213:Atg13 APN 2 91685167 missense probably damaging 0.96
neodwarf UTSW 2 91684765 splice site probably null
R0201:Atg13 UTSW 2 91684762 splice site probably null
R0571:Atg13 UTSW 2 91678718 splice site probably benign
R0606:Atg13 UTSW 2 91682073 missense probably benign
R1445:Atg13 UTSW 2 91679990 missense probably damaging 0.99
R2281:Atg13 UTSW 2 91679425 missense probably benign 0.17
R4739:Atg13 UTSW 2 91684695 missense probably damaging 1.00
R5356:Atg13 UTSW 2 91692466 nonsense probably null
R5434:Atg13 UTSW 2 91684765 splice site probably null
R6166:Atg13 UTSW 2 91676391 missense probably damaging 0.99
R6891:Atg13 UTSW 2 91685791 missense probably benign 0.42
R7126:Atg13 UTSW 2 91680420 missense probably damaging 0.99
Posted On2013-06-21