Incidental Mutation 'R8969:Atg9b'
ID 682924
Institutional Source Beutler Lab
Gene Symbol Atg9b
Ensembl Gene ENSMUSG00000038295
Gene Name autophagy related 9B
Synonyms Nos3as, Apg9l2, LOC213948, eONE
MMRRC Submission 068803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8969 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 24589179-24597141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24592832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 524 (A524T)
Ref Sequence ENSEMBL: ENSMUSP00000051864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030834] [ENSMUST00000059401] [ENSMUST00000115090]
AlphaFold Q6EBV9
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000059401
AA Change: A524T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: A524T

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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (77/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,227,944 (GRCm39) N662K probably benign Het
Acp7 G A 7: 28,307,382 (GRCm39) R492W probably damaging Het
Adam33 C T 2: 130,894,994 (GRCm39) G688D probably damaging Het
Ak3 T G 19: 29,025,094 (GRCm39) M46L probably benign Het
Aldh1l1 A G 6: 90,547,790 (GRCm39) T417A probably benign Het
Ambp C T 4: 63,072,328 (GRCm39) probably benign Het
Arhgef11 T C 3: 87,632,949 (GRCm39) S687P probably damaging Het
Ash1l T C 3: 88,873,598 (GRCm39) M127T possibly damaging Het
Btbd10 A T 7: 112,925,162 (GRCm39) S277T probably damaging Het
Ccdc167 T C 17: 29,924,553 (GRCm39) D16G probably damaging Het
Cdh12 A G 15: 21,492,739 (GRCm39) T253A probably damaging Het
Cfap206 A T 4: 34,692,522 (GRCm39) D501E probably benign Het
Chrnb2 A G 3: 89,664,532 (GRCm39) F461L probably damaging Het
Clic1 T C 17: 35,274,386 (GRCm39) probably null Het
Cmah A G 13: 24,606,636 (GRCm39) Y89C probably damaging Het
Crkl A G 16: 17,286,918 (GRCm39) E158G probably damaging Het
Cyp3a59 A T 5: 146,049,630 (GRCm39) E486V probably benign Het
D16Ertd472e T G 16: 78,344,682 (GRCm39) Y142S probably damaging Het
Decr2 T A 17: 26,306,355 (GRCm39) M94L probably benign Het
Dspp A T 5: 104,325,640 (GRCm39) S668C unknown Het
Dync2h1 T C 9: 7,130,723 (GRCm39) R1708G probably damaging Het
Eno3 T A 11: 70,551,691 (GRCm39) I217N possibly damaging Het
Fcho2 A T 13: 98,891,604 (GRCm39) L386* probably null Het
Gm5114 C A 7: 39,058,732 (GRCm39) V296F probably damaging Het
Hc A G 2: 34,909,475 (GRCm39) probably null Het
Helz2 A G 2: 180,879,581 (GRCm39) V679A probably benign Het
Ifnar2 T C 16: 91,201,060 (GRCm39) F434L probably benign Het
Isl1 A G 13: 116,439,857 (GRCm39) S164P possibly damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kat2b T A 17: 53,967,116 (GRCm39) Y621* probably null Het
Kif2b T C 11: 91,468,019 (GRCm39) H88R probably benign Het
Kit G A 5: 75,799,722 (GRCm39) V485I Het
Klhl36 T C 8: 120,596,887 (GRCm39) L196P probably damaging Het
Klk1b27 T A 7: 43,703,932 (GRCm39) I25K probably damaging Het
Kmt2c T A 5: 25,519,387 (GRCm39) Q2241L possibly damaging Het
Krt10 T A 11: 99,278,434 (GRCm39) N242Y probably damaging Het
Krt36 T A 11: 99,993,129 (GRCm39) I449F probably damaging Het
Med27 G T 2: 29,236,875 (GRCm39) V7F possibly damaging Het
Mettl25b G A 3: 87,837,282 (GRCm39) probably benign Het
Mxd1 C T 6: 86,628,466 (GRCm39) V145M probably benign Het
Mylip T A 13: 45,544,820 (GRCm39) F81L probably damaging Het
Nceh1 T A 3: 27,276,885 (GRCm39) F69L probably null Het
Ndufs3 A T 2: 90,732,773 (GRCm39) N104K probably damaging Het
Nfxl1 A C 5: 72,716,473 (GRCm39) V46G unknown Het
Or51a39 T C 7: 102,363,558 (GRCm39) T21A probably benign Het
Or51f1e T G 7: 102,747,251 (GRCm39) I101S probably damaging Het
Or5as1 T A 2: 86,980,928 (GRCm39) M26L probably benign Het
Or5m10b A G 2: 85,699,832 (GRCm39) N299D probably benign Het
Palld T A 8: 62,137,883 (GRCm39) H624L probably damaging Het
Pcbp2 T G 15: 102,399,214 (GRCm39) L343R probably damaging Het
Pclo T A 5: 14,572,208 (GRCm39) I531N unknown Het
Phip T C 9: 82,809,017 (GRCm39) probably benign Het
Phldb2 A T 16: 45,592,496 (GRCm39) probably null Het
Ppp2r5e G T 12: 75,500,492 (GRCm39) T467N possibly damaging Het
Ptcd3 T C 6: 71,880,431 (GRCm39) I97M probably benign Het
Ptpn21 T A 12: 98,655,284 (GRCm39) Q561L probably benign Het
Rnf38 A T 4: 44,149,079 (GRCm39) H121Q possibly damaging Het
Sec1 A G 7: 45,328,897 (GRCm39) F50S possibly damaging Het
Sec62 A G 3: 30,873,024 (GRCm39) E369G unknown Het
Serpinb2 A T 1: 107,452,390 (GRCm39) I323F probably damaging Het
Sh3rf1 A C 8: 61,837,860 (GRCm39) T802P probably benign Het
Srd5a3 A G 5: 76,301,493 (GRCm39) R241G probably benign Het
Suox T C 10: 128,507,542 (GRCm39) N162S probably benign Het
Tenm2 C T 11: 35,942,688 (GRCm39) C1327Y probably damaging Het
Terf2ip A G 8: 112,738,370 (GRCm39) D86G probably damaging Het
Tmc1 G A 19: 20,793,593 (GRCm39) R523C probably damaging Het
Tmprss11e T A 5: 86,861,758 (GRCm39) I263L possibly damaging Het
Tmtc4 T C 14: 123,179,224 (GRCm39) probably benign Het
Tnfrsf22 T A 7: 143,192,173 (GRCm39) N171I unknown Het
Trpm3 A G 19: 22,903,308 (GRCm39) S1035G probably damaging Het
U2af1 C T 17: 31,867,854 (GRCm39) V72M possibly damaging Het
Uimc1 A G 13: 55,233,447 (GRCm39) C70R possibly damaging Het
Vmn2r83 A G 10: 79,313,853 (GRCm39) T154A probably benign Het
Xrn2 T C 2: 146,871,304 (GRCm39) I302T probably damaging Het
Zbtb6 A G 2: 37,318,677 (GRCm39) L417P probably damaging Het
Zdhhc14 C T 17: 5,775,555 (GRCm39) S269L probably benign Het
Zfp735 T A 11: 73,602,699 (GRCm39) F548I possibly damaging Het
Zfp809 T C 9: 22,137,130 (GRCm39) probably null Het
Zranb3 A T 1: 127,888,588 (GRCm39) D832E possibly 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
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
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 PCR Primer
(F):5'- ACAGCTAAGGTTTGCTAAGGG -3'
(R):5'- ATTGCACGCCTTCTACAGCC -3'

Sequencing Primer
(F):5'- CTAAGGTTTGCTAAGGGAAAGGTC -3'
(R):5'- TTCTACAGCCACGTGGAGCTG -3'
Posted On 2021-10-11