Incidental Mutation 'IGL03011:Atg2b'
ID407788
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? Possibly non essential (E-score: 0.270) question?
Stock #IGL03011
Quality Score
Status
Chromosome12
Chromosomal Location105616136-105685211 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105626362 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 1745 (D1745Y)
Ref Sequence ENSEMBL: ENSMUSP00000037441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041055]
Predicted Effect probably damaging
Transcript: ENSMUST00000041055
AA Change: D1745Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: D1745Y

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: D585Y
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik T A 19: 23,652,653 D25V unknown Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Apob C A 12: 7,997,883 P941Q probably damaging Het
Armc9 T A 1: 86,199,916 probably null Het
Arpc5l T C 2: 39,013,718 probably benign Het
Atp9a A G 2: 168,652,632 V651A probably damaging Het
Ccnyl1 T C 1: 64,708,472 I148T possibly damaging Het
Chrna6 A T 8: 27,413,654 W17R possibly damaging Het
Cpne1 G A 2: 156,077,997 H244Y probably damaging Het
Cpxm2 A G 7: 132,049,078 Y618H possibly damaging Het
Csf1r T C 18: 61,110,401 I163T probably benign Het
Ctdsp1 T C 1: 74,395,447 probably benign Het
Ctsb T A 14: 63,133,357 I6N probably benign Het
D430042O09Rik T C 7: 125,852,002 C1102R probably benign Het
Dcbld1 A G 10: 52,284,148 N44S probably damaging Het
Dnah11 C T 12: 118,012,377 C2769Y probably benign Het
Efemp2 C A 19: 5,480,065 Q187K probably damaging Het
Elavl3 A T 9: 22,036,316 I109N probably damaging Het
Elovl5 G T 9: 77,982,784 K292N probably benign Het
Epb41 G T 4: 132,003,794 P1T probably damaging Het
Gm13084 A C 4: 143,811,760 F214V possibly damaging Het
Gm44865 G T 7: 108,565,800 probably benign Het
Gnat2 C A 3: 108,100,052 T262K probably damaging Het
Kmt2e A T 5: 23,497,542 I951F probably damaging Het
Large2 T C 2: 92,367,582 H258R probably damaging Het
Lnx1 G A 5: 74,685,759 P10L probably benign Het
Lrp6 G A 6: 134,520,417 S209L possibly damaging Het
Mc3r A G 2: 172,249,796 I313V probably benign Het
Med1 T C 11: 98,161,033 D468G possibly damaging Het
Mlxip T C 5: 123,445,951 S526P probably benign Het
Myo15 T C 11: 60,509,531 probably benign Het
Nedd1 T C 10: 92,689,641 D602G possibly damaging Het
Nol7 C T 13: 43,401,293 probably benign Het
Olfr250 T C 9: 38,368,068 I174T possibly damaging Het
Piezo2 T C 18: 63,124,660 D329G probably benign Het
Pkia G T 3: 7,442,082 E75* probably null Het
Ptpn14 A T 1: 189,839,557 T282S probably damaging Het
Ptprg C T 14: 12,219,029 P408S probably damaging Het
Rpa2 A G 4: 132,775,047 I147V probably benign Het
Serpina12 T C 12: 104,031,138 T375A possibly damaging Het
Serpinb11 T A 1: 107,379,816 S326T probably damaging Het
Slc18a1 T C 8: 69,038,863 T500A probably benign Het
Tapt1 A G 5: 44,193,187 F247L possibly damaging Het
Trav8d-2 A G 14: 53,042,761 I69M possibly damaging Het
Other mutations in Atg2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Atg2b APN 12 105644916 missense probably benign 0.20
IGL01326:Atg2b APN 12 105622144 missense probably damaging 1.00
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
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
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 On2016-08-02