Incidental Mutation 'R5901:Atg9b'
ID 456314
Institutional Source Beutler Lab
Gene Symbol Atg9b
Ensembl Gene ENSMUSG00000038295
Gene Name autophagy related 9B
Synonyms Nos3as, Apg9l2, LOC213948, eONE
MMRRC Submission 043239-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5901 (G1)
Quality Score 144
Status Not validated
Chromosome 5
Chromosomal Location 24589179-24597141 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 24597017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059401] [ENSMUST00000073076] [ENSMUST00000115077] [ENSMUST00000138168]
AlphaFold Q6EBV9
Predicted Effect probably benign
Transcript: ENSMUST00000059401
SMART Domains Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295

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 noncoding transcript
Transcript: ENSMUST00000138716
Predicted Effect probably benign
Transcript: ENSMUST00000138168
SMART Domains Protein: ENSMUSP00000119791
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
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
2300003K06Rik T A 11: 99,728,163 (GRCm39) S227C unknown Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts15 C T 9: 30,813,786 (GRCm39) R793H probably damaging Het
Ankra2 A G 13: 98,407,644 (GRCm39) E38G probably damaging Het
Aqp8 G A 7: 123,061,807 (GRCm39) C8Y probably damaging Het
Atp6v1b1 A G 6: 83,735,339 (GRCm39) E469G possibly damaging Het
B4gat1 T A 19: 5,089,241 (GRCm39) Y79* probably null Het
BB019430 T A 10: 58,540,014 (GRCm39) noncoding transcript Het
Calhm3 T C 19: 47,146,052 (GRCm39) Y51C probably damaging Het
Ccr2 C T 9: 123,906,239 (GRCm39) T173I possibly damaging Het
Cfap43 T C 19: 47,885,538 (GRCm39) D359G probably damaging Het
Dop1b A G 16: 93,566,639 (GRCm39) E1022G possibly damaging Het
Drd2 T A 9: 49,318,259 (GRCm39) C400* probably null Het
Efcab7 T A 4: 99,766,941 (GRCm39) H495Q probably damaging Het
Faim T C 9: 98,874,195 (GRCm39) V29A probably benign Het
Fancd2 T C 6: 113,526,326 (GRCm39) S350P probably damaging Het
Fbxw16 T C 9: 109,270,285 (GRCm39) E152G probably benign Het
Kif17 T C 4: 138,025,643 (GRCm39) probably null Het
Kif24 A T 4: 41,428,604 (GRCm39) S119T probably damaging Het
Ly6k A T 15: 74,670,429 (GRCm39) S38T probably benign Het
Mapk10 A G 5: 103,061,158 (GRCm39) S430P probably damaging Het
Megf10 G A 18: 57,410,180 (GRCm39) A654T probably benign Het
Mlph T C 1: 90,867,536 (GRCm39) L450P probably damaging Het
Otof T C 5: 30,532,323 (GRCm39) D1603G probably damaging Het
Pdcd11 T C 19: 47,116,771 (GRCm39) S1580P possibly damaging Het
Rad54b G A 4: 11,595,919 (GRCm39) R232H possibly damaging Het
Sar1b C T 11: 51,670,576 (GRCm39) T40I possibly damaging Het
Scyl2 C T 10: 89,496,124 (GRCm39) S242N probably benign Het
Sema4b A G 7: 79,874,715 (GRCm39) N702D possibly damaging Het
Slc16a11 A G 11: 70,107,172 (GRCm39) I394V probably benign Het
Stard9 A C 2: 120,531,851 (GRCm39) T2703P probably damaging Het
Stat5b A T 11: 100,695,733 (GRCm39) L83Q possibly damaging Het
Tas2r119 T A 15: 32,177,932 (GRCm39) V166D possibly damaging Het
Tmem117 T A 15: 94,612,839 (GRCm39) I125N probably benign Het
Tmem39a T C 16: 38,393,568 (GRCm39) I89T probably benign Het
Ubr4 T A 4: 139,178,565 (GRCm39) H3272Q probably damaging Het
Vmn1r7 T C 6: 57,001,591 (GRCm39) E223G probably damaging Het
Vmn2r78 T C 7: 86,603,796 (GRCm39) V658A probably damaging Het
Xirp2 A T 2: 67,343,410 (GRCm39) T1884S possibly damaging Het
Xkr4 A T 1: 3,286,901 (GRCm39) F430I probably damaging Het
Yae1d1 A G 13: 18,164,200 (GRCm39) M1T probably null Het
Zfand4 T C 6: 116,265,084 (GRCm39) V183A probably damaging Het
Other mutations in Atg9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Atg9b APN 5 24,591,513 (GRCm39) splice site probably null
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
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
Predicted Primers
Posted On 2017-02-15