Incidental Mutation 'IGL01326:Atg2b'
ID74271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg2b
Ensembl Gene ENSMUSG00000041341
Gene Nameautophagy related 2B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #IGL01326
Quality Score
Status
Chromosome12
Chromosomal Location105616136-105685211 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 105622144 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 1936 (A1936T)
Ref Sequence ENSEMBL: ENSMUSP00000037441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041055]
Predicted Effect probably damaging
Transcript: ENSMUST00000041055
AA Change: A1936T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: A1936T

DomainStartEndE-ValueType
Pfam:Chorein_N 11 127 3.5e-19 PFAM
low complexity region 286 298 N/A INTRINSIC
low complexity region 409 428 N/A INTRINSIC
low complexity region 864 870 N/A INTRINSIC
low complexity region 893 904 N/A INTRINSIC
low complexity region 1722 1733 N/A INTRINSIC
Pfam:ATG_C 1976 2071 1.4e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220960
Predicted Effect unknown
Transcript: ENSMUST00000221015
AA Change: A776T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222395
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
C8a T C 4: 104,856,420 Y171C probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdk4 A G 10: 127,064,623 D86G possibly damaging Het
Cdr2l G T 11: 115,390,970 R100S probably benign Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fam102b A G 3: 108,979,785 V299A possibly damaging Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Maml1 G A 11: 50,265,888 P487S probably benign Het
Marc2 T C 1: 184,833,851 probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfm1 T C 2: 28,229,552 Y385H probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Ptpn11 T C 5: 121,143,136 D493G probably damaging Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Saxo2 T C 7: 82,648,405 I9V probably benign Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in Atg2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Atg2b APN 12 105644916 missense probably benign 0.20
IGL02063:Atg2b APN 12 105648322 missense possibly damaging 0.89
IGL02260:Atg2b APN 12 105636440 splice site probably benign
IGL02376:Atg2b APN 12 105645468 missense probably damaging 1.00
IGL02381:Atg2b APN 12 105648348 missense probably damaging 1.00
IGL02434:Atg2b APN 12 105639207 missense probably benign 0.00
IGL02534:Atg2b APN 12 105643267 missense probably damaging 1.00
IGL03011:Atg2b APN 12 105626362 missense probably damaging 0.98
IGL03173:Atg2b APN 12 105658294 missense possibly damaging 0.68
R6669_atg2b_067 UTSW 12 105671529 missense possibly damaging 0.90
R0066:Atg2b UTSW 12 105648449 missense probably benign
R0066:Atg2b UTSW 12 105648449 missense probably benign
R0511:Atg2b UTSW 12 105617153 missense probably damaging 1.00
R0762:Atg2b UTSW 12 105674970 missense possibly damaging 0.56
R0786:Atg2b UTSW 12 105636508 missense probably benign 0.00
R1029:Atg2b UTSW 12 105635773 missense probably damaging 0.96
R1529:Atg2b UTSW 12 105661133 missense probably benign
R1563:Atg2b UTSW 12 105623488 missense probably damaging 0.99
R1746:Atg2b UTSW 12 105669329 missense possibly damaging 0.79
R1887:Atg2b UTSW 12 105654092 missense probably benign 0.01
R1956:Atg2b UTSW 12 105669418 missense probably damaging 1.00
R1957:Atg2b UTSW 12 105669418 missense probably damaging 1.00
R2272:Atg2b UTSW 12 105638008 missense probably benign 0.00
R2877:Atg2b UTSW 12 105664009 nonsense probably null
R2878:Atg2b UTSW 12 105664009 nonsense probably null
R4798:Atg2b UTSW 12 105652629 missense probably benign 0.37
R4836:Atg2b UTSW 12 105646814 missense probably benign
R5007:Atg2b UTSW 12 105643876 splice site probably null
R5042:Atg2b UTSW 12 105621262 missense probably benign 0.01
R5134:Atg2b UTSW 12 105674950 missense probably damaging 0.96
R5212:Atg2b UTSW 12 105646796 missense probably benign 0.00
R5250:Atg2b UTSW 12 105635765 missense probably damaging 1.00
R5307:Atg2b UTSW 12 105658329 missense probably benign 0.17
R5342:Atg2b UTSW 12 105658916 missense possibly damaging 0.90
R5583:Atg2b UTSW 12 105649155 missense possibly damaging 0.94
R5656:Atg2b UTSW 12 105621328 missense probably benign 0.00
R5660:Atg2b UTSW 12 105649124 nonsense probably null
R5903:Atg2b UTSW 12 105639359 missense possibly damaging 0.90
R6018:Atg2b UTSW 12 105661171 missense probably damaging 0.96
R6153:Atg2b UTSW 12 105623482 missense possibly damaging 0.80
R6326:Atg2b UTSW 12 105661092 nonsense probably null
R6584:Atg2b UTSW 12 105657995 missense probably damaging 1.00
R6593:Atg2b UTSW 12 105644848 missense probably damaging 1.00
R6669:Atg2b UTSW 12 105671529 missense possibly damaging 0.90
R6847:Atg2b UTSW 12 105635788 missense probably damaging 1.00
R7003:Atg2b UTSW 12 105654249 missense probably benign 0.01
R7193:Atg2b UTSW 12 105664708 missense probably damaging 1.00
R7387:Atg2b UTSW 12 105622775 missense probably damaging 1.00
R7432:Atg2b UTSW 12 105661204 missense probably damaging 0.98
R7432:Atg2b UTSW 12 105664698 missense probably benign 0.08
R7630:Atg2b UTSW 12 105646954 critical splice acceptor site probably null
R7634:Atg2b UTSW 12 105652120 missense probably damaging 1.00
R7645:Atg2b UTSW 12 105623430 missense probably benign 0.06
R7653:Atg2b UTSW 12 105636472 missense possibly damaging 0.68
R8157:Atg2b UTSW 12 105662940 missense probably damaging 1.00
R8222:Atg2b UTSW 12 105652216 missense possibly damaging 0.95
R8469:Atg2b UTSW 12 105637911 missense probably benign 0.00
R8708:Atg2b UTSW 12 105669428 critical splice acceptor site probably benign
R8784:Atg2b UTSW 12 105639241 missense probably damaging 1.00
X0018:Atg2b UTSW 12 105666697 missense possibly damaging 0.86
X0066:Atg2b UTSW 12 105646785 missense probably benign 0.12
Z1177:Atg2b UTSW 12 105635764 missense probably damaging 0.99
Posted On2013-10-07