Incidental Mutation 'IGL01739:Atg9b'
ID 105820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg9b
Ensembl Gene ENSMUSG00000038295
Gene Name autophagy related 9B
Synonyms Nos3as, Apg9l2, LOC213948, eONE
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01739
Quality Score
Status
Chromosome 5
Chromosomal Location 24589179-24597141 bp(-) (GRCm39)
Type of Mutation splice site (2188 bp from exon)
DNA Base Change (assembly) A to G at 24591513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030834] [ENSMUST00000059401] [ENSMUST00000115090]
AlphaFold Q6EBV9
Predicted Effect probably null
Transcript: ENSMUST00000030834
SMART Domains Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
Pfam:NO_synthase 118 480 1.7e-183 PFAM
Pfam:Flavodoxin_1 521 697 4.8e-54 PFAM
Pfam:FAD_binding_1 750 978 2.1e-82 PFAM
Pfam:NAD_binding_1 1010 1124 1.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000059401
AA Change: L695P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: L695P

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 22 38 N/A INTRINSIC
low complexity region 115 131 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
transmembrane domain 279 296 N/A INTRINSIC
Pfam:APG9 321 681 1.2e-100 PFAM
low complexity region 782 799 N/A INTRINSIC
low complexity region 838 847 N/A INTRINSIC
low complexity region 854 871 N/A INTRINSIC
low complexity region 876 889 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115090
SMART Domains Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
Pfam:NO_synthase 114 485 9e-214 PFAM
Pfam:Flavodoxin_1 521 697 3.8e-54 PFAM
Pfam:FAD_binding_1 750 978 1.6e-79 PFAM
Pfam:NAD_binding_1 1010 1091 5.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156403
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 functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 43,906,210 (GRCm39) Y88* probably null Het
Aftph T C 11: 20,676,994 (GRCm39) D205G probably damaging Het
Arhgap31 T C 16: 38,423,793 (GRCm39) I758V probably benign Het
Auts2 T C 5: 131,469,056 (GRCm39) T754A probably benign Het
Birc6 A G 17: 74,966,216 (GRCm39) M4048V probably benign Het
Cacna1s T C 1: 136,024,870 (GRCm39) probably null Het
Cmpk1 C T 4: 114,822,121 (GRCm39) A143T probably benign Het
Cstf2t C A 19: 31,060,536 (GRCm39) P24Q probably damaging Het
Cwc22 A G 2: 77,757,640 (GRCm39) S163P probably damaging Het
Dnaaf11 T A 15: 66,321,326 (GRCm39) M272L probably benign Het
Faf1 T A 4: 109,534,278 (GRCm39) probably benign Het
Focad T A 4: 88,289,043 (GRCm39) I1279N unknown Het
Gp5 T C 16: 30,127,459 (GRCm39) D405G possibly damaging Het
Guf1 C A 5: 69,718,501 (GRCm39) N213K probably damaging Het
Hacd4 T C 4: 88,341,285 (GRCm39) T145A probably damaging Het
Itga11 T C 9: 62,681,399 (GRCm39) M1005T probably benign Het
Mast4 T A 13: 102,910,781 (GRCm39) T621S probably damaging Het
Mme T C 3: 63,247,534 (GRCm39) M273T possibly damaging Het
Mos A G 4: 3,871,816 (GRCm39) probably benign Het
Msln C T 17: 25,969,004 (GRCm39) probably null Het
Mtg1 A T 7: 139,730,149 (GRCm39) Q315L probably benign Het
Myh1 A G 11: 67,105,354 (GRCm39) E1048G probably damaging Het
Ndufa9 C T 6: 126,821,777 (GRCm39) G66D probably damaging Het
Nr1i2 T C 16: 38,086,333 (GRCm39) K44R probably benign Het
Nup155 T A 15: 8,165,272 (GRCm39) M636K probably benign Het
Or12d12 A T 17: 37,610,673 (GRCm39) F213L probably benign Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Plekha6 T C 1: 133,187,869 (GRCm39) V130A probably benign Het
Prag1 A G 8: 36,569,834 (GRCm39) N139S probably benign Het
Rbpj-ps3 T C 6: 46,507,694 (GRCm39) T19A probably benign Het
Scai A G 2: 38,984,803 (GRCm39) probably benign Het
Slc12a7 A G 13: 73,947,733 (GRCm39) T617A probably benign Het
Slc15a2 T C 16: 36,576,592 (GRCm39) M481V probably benign Het
Snx5 A G 2: 144,112,325 (GRCm39) L8P probably benign Het
Spg11 C T 2: 121,945,152 (GRCm39) A123T probably damaging Het
Supt6 T A 11: 78,113,013 (GRCm39) I977F probably damaging Het
Tjp3 T C 10: 81,114,490 (GRCm39) D442G probably benign Het
Ttc21b A T 2: 66,068,200 (GRCm39) N275K probably benign Het
Vmn2r50 A G 7: 9,771,364 (GRCm39) F779S probably damaging Het
Xirp2 A T 2: 67,345,482 (GRCm39) R2574S probably benign Het
Zbp1 T C 2: 173,054,038 (GRCm39) E161G possibly damaging Het
Other mutations in Atg9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:Atg9b APN 5 24,596,056 (GRCm39) missense possibly damaging 0.89
PIT4418001:Atg9b UTSW 5 24,590,513 (GRCm39) missense possibly damaging 0.93
R0045:Atg9b UTSW 5 24,592,396 (GRCm39) missense probably damaging 0.99
R1698:Atg9b UTSW 5 24,593,186 (GRCm39) missense probably damaging 1.00
R1807:Atg9b UTSW 5 24,592,055 (GRCm39) missense probably damaging 1.00
R1885:Atg9b UTSW 5 24,593,252 (GRCm39) missense probably damaging 1.00
R2183:Atg9b UTSW 5 24,595,491 (GRCm39) missense probably benign 0.01
R2224:Atg9b UTSW 5 24,591,393 (GRCm39) missense possibly damaging 0.77
R2226:Atg9b UTSW 5 24,591,393 (GRCm39) missense possibly damaging 0.77
R2227:Atg9b UTSW 5 24,591,393 (GRCm39) missense possibly damaging 0.77
R2426:Atg9b UTSW 5 24,591,992 (GRCm39) missense probably damaging 1.00
R2919:Atg9b UTSW 5 24,596,542 (GRCm39) missense possibly damaging 0.66
R3003:Atg9b UTSW 5 24,596,217 (GRCm39) missense probably damaging 1.00
R4772:Atg9b UTSW 5 24,590,237 (GRCm39) makesense probably null
R4786:Atg9b UTSW 5 24,591,087 (GRCm39) missense possibly damaging 0.92
R5901:Atg9b UTSW 5 24,597,017 (GRCm39) unclassified probably benign
R6410:Atg9b UTSW 5 24,591,108 (GRCm39) missense possibly damaging 0.46
R6505:Atg9b UTSW 5 24,595,575 (GRCm39) missense probably damaging 1.00
R7215:Atg9b UTSW 5 24,593,039 (GRCm39) missense probably damaging 1.00
R8134:Atg9b UTSW 5 24,590,220 (GRCm39) critical splice donor site probably null
R8219:Atg9b UTSW 5 24,591,330 (GRCm39) missense probably damaging 1.00
R8257:Atg9b UTSW 5 24,591,303 (GRCm39) unclassified probably benign
R8460:Atg9b UTSW 5 24,591,966 (GRCm39) missense probably damaging 0.97
R8671:Atg9b UTSW 5 24,591,107 (GRCm39) missense probably benign 0.08
R8774:Atg9b UTSW 5 24,595,571 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Atg9b UTSW 5 24,595,571 (GRCm39) missense probably damaging 1.00
R8870:Atg9b UTSW 5 24,592,032 (GRCm39) missense probably damaging 1.00
R8956:Atg9b UTSW 5 24,591,850 (GRCm39) unclassified probably benign
R8966:Atg9b UTSW 5 24,596,200 (GRCm39) critical splice donor site probably null
R8969:Atg9b UTSW 5 24,592,832 (GRCm39) missense probably benign 0.00
R9521:Atg9b UTSW 5 24,593,107 (GRCm39) missense probably benign
R9638:Atg9b UTSW 5 24,596,406 (GRCm39) missense possibly damaging 0.67
Z1177:Atg9b UTSW 5 24,596,785 (GRCm39) missense probably benign 0.01
Posted On 2014-01-21