Incidental Mutation 'IGL02020:Atg9b'
ID183929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg9b
Ensembl Gene ENSMUSG00000038295
Gene Nameautophagy related 9B
SynonymsLOC213948, Apg9l2, Nos3as, eONE
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.166) question?
Stock #IGL02020
Quality Score
Status
Chromosome5
Chromosomal Location24384181-24392143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 24391058 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 205 (N205K)
Ref Sequence ENSEMBL: ENSMUSP00000051864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059401] [ENSMUST00000073076] [ENSMUST00000115077] [ENSMUST00000138168]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059401
AA Change: N205K

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: N205K

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 benign
Transcript: ENSMUST00000073076
SMART Domains Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:ABC_membrane 130 407 3.6e-48 PFAM
AAA 481 668 8.58e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115074
SMART Domains Protein: ENSMUSP00000110726
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:ABC_membrane 130 407 2.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115077
SMART Domains Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:ABC_membrane 130 407 1.1e-56 PFAM
AAA 481 668 8.58e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136414
Predicted Effect probably benign
Transcript: ENSMUST00000138168
SMART Domains Protein: ENSMUSP00000119791
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138716
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 83,932,948 Q711L probably benign Het
Brinp3 T C 1: 146,902,127 probably benign Het
Cdh7 A G 1: 110,138,348 Y784C probably damaging Het
Csmd2 T A 4: 128,559,879 D142E probably damaging Het
Dscam A G 16: 96,716,069 L880P probably damaging Het
Gm12355 C A 11: 98,625,509 V13L probably damaging Het
Gm14496 A G 2: 181,996,089 T319A possibly damaging Het
Hr A G 14: 70,556,437 T46A probably benign Het
Ighv1-7 A G 12: 114,538,725 C41R probably damaging Het
Itga3 C T 11: 95,057,390 V539I probably benign Het
Kif13a T A 13: 46,794,019 I830F probably benign Het
Mphosph9 T C 5: 124,258,950 N1110S probably damaging Het
Olfr1029 A G 2: 85,975,235 probably benign Het
Pdia3 G A 2: 121,436,419 probably null Het
Phpt1 T C 2: 25,574,209 I87M probably damaging Het
Psd3 T C 8: 67,974,170 probably benign Het
Ranbp2 A G 10: 58,479,947 E2163G probably damaging Het
Ranbp6 T C 19: 29,809,776 I1059V probably benign Het
Runx2 C T 17: 44,658,599 G253D probably damaging Het
S100a5 A G 3: 90,609,814 probably benign Het
Skint1 T A 4: 112,025,527 M256K probably benign Het
Slc9a3 C T 13: 74,158,848 A364V probably damaging Het
Trip11 C T 12: 101,884,313 R879Q probably damaging Het
Tubgcp3 T C 8: 12,637,780 T588A possibly damaging Het
Vmn2r100 T A 17: 19,504,938 V43E possibly damaging Het
Washc4 T C 10: 83,564,472 S421P probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wwp2 G A 8: 107,556,495 R354Q probably damaging Het
Zfp804b T A 5: 6,769,118 Q1315L probably damaging Het
Other mutations in Atg9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Atg9b APN 5 24386515 unclassified probably null
R0045:Atg9b UTSW 5 24387398 missense probably damaging 0.99
R1698:Atg9b UTSW 5 24388188 missense probably damaging 1.00
R1807:Atg9b UTSW 5 24387057 missense probably damaging 1.00
R1885:Atg9b UTSW 5 24388254 missense probably damaging 1.00
R2183:Atg9b UTSW 5 24390493 missense probably benign 0.01
R2224:Atg9b UTSW 5 24386395 missense possibly damaging 0.77
R2226:Atg9b UTSW 5 24386395 missense possibly damaging 0.77
R2227:Atg9b UTSW 5 24386395 missense possibly damaging 0.77
R2426:Atg9b UTSW 5 24386994 missense probably damaging 1.00
R2919:Atg9b UTSW 5 24391544 missense possibly damaging 0.66
R3003:Atg9b UTSW 5 24391219 missense probably damaging 1.00
R4772:Atg9b UTSW 5 24385239 makesense probably null
R4786:Atg9b UTSW 5 24386089 missense possibly damaging 0.92
R5901:Atg9b UTSW 5 24392019 unclassified probably benign
R6410:Atg9b UTSW 5 24386110 missense possibly damaging 0.46
R6505:Atg9b UTSW 5 24390577 missense probably damaging 1.00
Posted On2014-05-07