Incidental Mutation 'IGL02381:Atg2b'
ID291379
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: 0.262) question?
Stock #IGL02381
Quality Score
Status
Chromosome12
Chromosomal Location105616136-105685211 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105648348 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 1108 (C1108F)
Ref Sequence ENSEMBL: ENSMUSP00000037441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041055]
Predicted Effect probably damaging
Transcript: ENSMUST00000041055
AA Change: C1108F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: C1108F

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: ENSMUST00000157229
Predicted Effect probably benign
Transcript: ENSMUST00000221015
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810041L15Rik A G 15: 84,406,453 S218P probably damaging Het
9030624J02Rik A G 7: 118,775,375 Y342C probably damaging Het
Abcb5 T A 12: 118,940,678 I126F probably damaging Het
Antxrl T G 14: 34,056,611 probably null Het
Arsa A T 15: 89,475,537 Y62* probably null Het
Atp8a1 T C 5: 67,705,995 Q651R probably benign Het
Atxn7l2 A G 3: 108,204,495 probably benign Het
Cacna1f A G X: 7,616,068 D597G probably damaging Het
Capn12 T C 7: 28,886,455 probably benign Het
Ctnna2 A T 6: 76,954,783 D624E probably benign Het
Dnah2 T C 11: 69,446,292 E3274G probably benign Het
Dnah7b A T 1: 46,277,120 N3131I probably damaging Het
Fam3a C T X: 74,387,084 G112E probably damaging Het
Focad T G 4: 88,274,090 probably benign Het
Fyb2 G A 4: 104,948,666 probably benign Het
Htt C T 5: 34,829,760 P1108S probably benign Het
Ift80 A T 3: 68,962,320 probably null Het
Insc T C 7: 114,849,942 *533Q probably null Het
Itga2 A G 13: 114,856,722 C786R probably damaging Het
Lman2 A G 13: 55,351,469 W198R possibly damaging Het
Med23 A G 10: 24,900,728 T713A possibly damaging Het
Mtus1 A T 8: 41,083,119 M520K probably benign Het
Mvd C A 8: 122,437,155 G252V probably benign Het
Ncoa3 T A 2: 166,052,817 V340E probably damaging Het
Necab1 A G 4: 15,148,812 probably null Het
Noxred1 T C 12: 87,225,002 D131G probably damaging Het
P2ry4 C A X: 100,594,201 K30N probably damaging Het
Pcdhac2 T A 18: 37,144,267 V100D possibly damaging Het
Piezo1 C A 8: 122,498,544 R571L probably benign Het
Pkd1l2 C T 8: 117,035,800 probably benign Het
Plekhm2 T C 4: 141,642,723 T32A possibly damaging Het
Rev3l T C 10: 39,821,346 V613A possibly damaging Het
Rp1 A G 1: 4,352,390 S156P probably benign Het
Sema3f A T 9: 107,692,395 D48E probably damaging Het
Slc29a4 T C 5: 142,720,099 V446A probably benign Het
Sppl3 C T 5: 115,074,910 probably null Het
Ttn T C 2: 76,769,638 E19064G probably 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
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
X0018:Atg2b UTSW 12 105666697 missense possibly damaging 0.86
X0066:Atg2b UTSW 12 105646785 missense probably benign 0.12
Posted On2015-04-16